GENE
|
OMIM DISEASES
|
INHERITANCE*
|
% GENE COVERAGE (20X)
|
HGMD**
|
ABCC8
|
Permanent Neonatal Diabetes Mellitus With Or Without Neurologic Features, Dend Syndrome
|
AD,AR
|
99.98
|
710 of 712
|
ACADM
|
Medium Chain Acyl-CoA Dehydrogenase Deficiency
|
AR
|
99.98
|
181 of 181
|
ACTA1
|
Congenital Myopathy With Fiber-Type Disproportion, Nemaline Myopathy, Zebra Body Myopathy
|
AD,AR
|
100
|
224 of 224
|
ADCY6
|
Lethal Congenital Contracture Syndrome, Hypomyelination Neuropathy- Arthrogryposis Syndrome
|
AR
|
100
|
2 of 2
|
ADGRG6
|
Lethal Congenital Contracture Syndrome
|
AR
|
99.91
|
NA of NA
|
AGRN
|
Congential Myasthenic Syndrome
|
AR
|
99.71
|
18 of 18
|
AIMP1
|
Hypomyelinating Leukodystrophy, Autosomal Recessive Non-Syndromic Intellectual Disability
|
AR
|
100
|
10 of 10
|
AK9
|
Postsynaptic Congenital Myasthenic Syndromes
|
–
|
98.37
|
4 of 4
|
ALG14
|
Congenital Myasthenic Syndrome
|
AR
|
99.99
|
7 of 7
|
ALG2
|
Congenital Disorder Of Glycosylation Type II
|
AR
|
99.61
|
7 of 7
|
ALG3
|
Congenital Disorder Of Glycosylation Type Id
|
AR
|
99.2
|
25 of 25
|
ASCC1
|
Spinal Muscular Atrophy With Congenital Bone Fractures
|
AR
|
99.97
|
6 of 6
|
ATAD1
|
Hereditary Hyperekplexia
|
AR
|
99.97
|
3 of 3
|
AUTS2
|
Autosomal Dominant Metal Retardation, Autism Spectrum Disorder
|
AD
|
99.63
|
9 of 17
|
BICD2
|
Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
|
AD
|
99.94
|
39 of 39
|
BIN1
|
Autosomal Recessive Centronuclear Myopathy, Autosomal Dominant Centronuclear Myopathy
|
AR
|
100
|
20 of 20
|
C12ORF65
|
Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia
|
AR
|
na
|
na
|
CACNA1E
|
Epileptic Encephalopathy
|
AD
|
99.94
|
25 of 25
|
CASK
|
Nonspherocytic Hemolytic Anemia, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, Early Infantile Epileptic Encephalopathy
|
X,XR,XD,G
|
99.98
|
NA of NA
|
CCDC47
|
Trichohepatoneu- rodevelopmental Syndrome
|
AR
|
99.94
|
5 of 5
|
CDK5
|
Lissencephaly With Cerebellar Hypoplasia
|
AR
|
100
|
5 of 5
|
CEP55
|
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly, Meckel Syndrome
|
AR
|
99.22
|
3 of 3
|
CFL2
|
Nemaline Myopathy
|
AR
|
99.98
|
9 of 9
|
CHAT
|
Congenital Myasthenic Syndrome Associated With Episodic Apnea
|
AR
|
100
|
49 of 49
|
CHMP1A
|
Pontocerebellar Hypoplasia Type 8
|
AR
|
100
|
4 of 4
|
CHRNA1
|
Multiple Pterygium Syndrome, Congenital Myasthenic Syndrome
|
AD,AR
|
100
|
35 of 35
|
CHRNB1
|
Congential Myasthenic Syndrome
|
AD,AR
|
95
|
9 of 9
|
CHRND
|
Multiple Pterygium Syndrome, Congenital Myasthenic Syndrome, Congenital
|
AD,AR
|
100
|
31 of 31
|
CHRNE
|
Familial Infantile Myasthenia, Congenital Myasthenic Syndrome
|
AD,AR
|
99.87
|
138 of 138
|
CHRNG
|
Multiple Pterygium Syndrome
|
AR
|
100
|
36 of 36
|
CHST14
|
Musculocontractural Ehlers-Danlos Syndrome
|
AR
|
97.7
|
21 of 22
|
CHUK
|
Cocoon Syndrome
|
AR
|
100
|
5 of 5
|
CNTNAP1
|
Lethal Congenital Contracture Syndrome, Congenital Hypomyelinating Neuropathy
|
AR
|
99.97
|
25 of 25
|
COL13A1
|
Congenital Myasthenic Syndrome
|
AR
|
99.97
|
16 of 16
|
COL6A2
|
Bethlem Myopathy , Congenital Myosclerosis, Ullrich Congenital Muscular Dystrophy
|
AD,AR
|
100
|
223 of 225
|
COLQ
|
Endplate Acetylcholinesterase Deficiency, Synaptic Congenital Myasthenic Syndromes
|
AR
|
100
|
70 of 71
|
DHCR24
|
Desmosterolosis
|
AR
|
100
|
10 of 10
|
DOK7
|
Fetal Akinesia Deformation Sequence, Limb-Girdle Myasthenia, Postsynaptic Congenital Myasthenic Syndromes
|
AR
|
99.88
|
72 of 72
|
DPAGT1
|
Congenital Disorder Of Glycosylation, Type Ij, Congenital Myasthenic Syndrome
|
AR
|
100
|
41 of 41
|
DSE
|
Musculocontractural Ehlers-Danlos Syndrome
|
AR
|
99.94
|
3 of 3
|
ECEL1
|
Distal Arthrogryposis Type 5d
|
AR
|
99.52
|
39 of 39
|
EGR2
|
Demyelinating Charcot- Marie-Tooth Disease Type 1d, Hypertrophic Neuropathy Of Dejerine- Sottas, Congenital Hypomyelinating Neuropathy
|
AD,AR
|
100
|
23 of 23
|
ERBB3
|
Lethal Congenital Contracture Syndrome
|
AD,AR
|
99.91
|
6 of 6
|
ERCC1
|
Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome Type 2
|
AR
|
93.12
|
6 of 6
|
ERCC2
|
Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum Complementation Group D, Xeroderma Pigmentosum-Cockayne Syndrome Complex
|
AR
|
100
|
102 of 102
|
ERCC5
|
Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum Complementation Group G, Xeroderma Pigmentosum-Cockayne Syndrome Complex
|
AR
|
99.94
|
58 of 58
|
ERCC6
|
Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome Type B, De Sanctis-Cacchione Syndrome Type 3
|
AD,AR
|
99.98
|
127 of 128
|
ERGIC1
|
Neurogenic Arthrogryposis Multiplex Congenita
|
AR
|
100
|
2 of 2
|
EXOSC3
|
Pontocerebellar Hypoplasia Type 1b
|
AR
|
100
|
19 of 20
|
FAM20C
|
Lethal Osteosclerotic Bone Dysplasia
|
AR
|
97.8
|
29 of 29
|
FBN2
|
Congenital Contractural Arachnodactyly
|
AD
|
100
|
115 of 115
|
FHL1
|
Reducing Body Myopathy, Scapuloperoneal Myopathy, Uruguay Faciocardiomusculoskeletal Syndrome, X-linked Emery-Dreifuss Muscular Dystrophy
|
X,XR,XD,G
|
99.98
|
NA of NA
|
FIG4
|
Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease Type 4j, Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal , Polymicrogyria, Bilateral Temporooccipital, Yunis-Varon Syndrome
|
AD,AR
|
99.92
|
72 of 72
|
FKBP10
|
Bruck Syndrome, Osteogenesis Imperfecta Type XI, Kuskokwim Syndrome
|
AR
|
100
|
51 of 51
|
FKTN
|
Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Limb-Girdle Muscular Dystrophy Type 2m, Congenital Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome
|
AR
|
98
|
54 of 56
|
FLAD1
|
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
|
AR
|
97.13
|
13 of 14
|
FLVCR2
|
Proliferative Vasculopathy And Hydranencephaly- Hydrocephaly Syndrome
|
AR
|
99.97
|
16 of 16
|
GBA
|
Gaucher Disease- Ophthalmoplegia- Cardiovascular Calcification Syndrome, Hereditary Late-Onset Parkinson Disease
|
AD,AR
|
100
|
469 of 471
|
GBE1
|
Glycogen Storage Disease IV, Adult Polyglucosan Body Disease
|
AR
|
99.95
|
71 of 74
|
GCK
|
Permanent Neonatal Diabetes Mellitus, Familial Hyperinsulinemic Hypoglycemia
|
AD,AR
|
100
|
905 of 909
|
GFM2
|
Combined Oxidative Phosphorylation Deficiency Type 39
|
AR
|
99.35
|
5 of 7
|
GFPT1
|
Congenital Myasthenic Syndromes With Glycosylation Defect
|
AR
|
100
|
57 of 57
|
GLDN
|
Lethal Congenital Contracture Syndrome
|
AR
|
98.46
|
13 of 13
|
GLE1
|
Congenital Arthrogryposis With Anterior Horn Cell Disease, Lethal Congenital Contracture Syndrome, Amyotrophic Lateral Sclerosis
|
AR
|
100
|
17 of 17
|
GLI3
|
Greig Cephalopolysyndactyly Syndrome, Congenital Hypothalamic Hamartoma Syndrome, Pallister-Hall Syndrome, Postaxial and Preaxial Polydactyly, Acrocallosal Syndrome
|
AD,AR
|
100
|
231 of 231
|
GMPPB
|
Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Congential Muscular Dystrophy With Cerebellar Involvement, Congenital Myasthenic Syndromes With Glycosylation Defect, Muscle-Eye- Brain Disease
|
AR
|
99.95
|
53 of 53
|
HSPG2
|
Dyssegmental Dysplasia, Silverman-Handmaker Type, Schwartz-Jampel Syndrome
|
AR
|
99.41
|
68 of 69
|
HYMAI
|
Paternal Uniparental Disomy Of Chromosome 6, Transient Neonatal Diabetes Mellitus
|
AD
|
na
|
na
|
IBA57
|
Multiple Mitochondrial Dysfunctions Syndrome, Autosomal Recessive Spastic Paraplegia
|
AR
|
93.35
|
25 of 27
|
INS
|
Permanent Neonatal Diabetes Mellitus, Hyperproinsulinemia
|
AD,AR
|
100
|
78 of 84
|
ITGA6
|
Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Junctional Epidermolysis Bullosa- Pyloric Atresia Syndrome
|
AR
|
100
|
10 of 10
|
ITGB4
|
Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis Bullosa Simplex Weber- Cockayne Type, Aplasia Cutis Congenita
|
AD,AR
|
99.12
|
115 of 115
|
KAT6B
|
Genitopatellar Syndrome, Ohdo Syndrome, Blepharophimosis-Intellectual Disability Syndrome
|
AD
|
99.97
|
80 of 80
|
KBTBD13
|
Childhood-Onset Nemaline Myopathy
|
AD
|
99.66
|
15 of 15
|
KCNJ11
|
Permanent Neonatal Diabetes Mellitus With Or Without Neurologic Features, Hyperinsulinemic Hypoglycemia, Dend Syndrome
|
AD,AR
|
100
|
190 of 191
|
KIAA1109
|
Alkuraya-Kucinskas Syndrome
|
AR
|
99.95
|
21 of 21
|
KIF14
|
Meckel Syndrome, Autosomal Recessive Primary Microcephaly
|
AR
|
99.84
|
18 of 18
|
KIF1A
|
Autosomal Dominant Mental Retardation Neuropathy, Hereditary Sensory And Autonomic Type II, Autosomal Spastic Paraplegia Type 30, Peho Syndrome
|
AD,AR
|
100
|
76 of 76
|
KIF5C
|
Cortical Dysplasia, Complex, With Other Brain Malformations
|
AD
|
99.96
|
7 of 7
|
KLHL40
|
Severe Congenital Nemaline Myopathy
|
AR
|
99.98
|
26 of 26
|
KLHL41
|
Childhood-Onset Nemaline Myopathy
|
AR
|
99.92
|
8 of 8
|
LAMB2
|
Pierson Syndrome , Synaptic Congenital Myasthenic Syndromes
|
AR
|
100
|
129 of 129
|
LGI4
|
Arthrogryposis Multiplex Congenita, Neurogenic, With Myelin Defect , Hypomyelination Neuropathy- Arthrogryposis Syndrome
|
AR
|
99.86
|
9 of 9
|
LMNA
|
Charcot-Marie-Tooth Disease Axonal Type 2b1 , Emery- Dreifuss Muscular Dystrophy , Heart-Hand Syndrome, Hutchinson-Gilford Progeria Syndrome, Familial Partial Lipodystrophy Type 2, Malouf Syndrome, Mandibuloacral Dysplasia, Congenital Muscular Dystrophy, Atypical Werner Syndrome
|
AD,AR
|
100
|
619 of 620
|
LMOD3
|
Severe Congenital Nemaline Myopathy
|
AR
|
98.68
|
23 of 26
|
LRP4
|
Cenani-Lenz Syndactyly Syndrome, Congenital Myasthenic Syndrome, Sclerosteosis, Cenani-Lenz Syndrome
|
AD,AR
|
100
|
32 of 32
|
MAGEL2
|
Prader-Willi Syndrome
|
AD
|
99.99
|
43 of 48
|
MED13L
|
Mental Retardation And Distinctive Facial Features With Or Without Cardiac Defects, Developmental Delay-Facial Dysmorphism Syndrome
|
AD
|
100
|
90 of 92
|
MPZ
|
Axonal Type Charcot-Marie- Tooth Disease, Demyelinating Type Charcot-Marie-Tooth Disease, Hypertrophic Neuropathy Of Dejerine- Sottas, Congenital Hypomyelinating Neuropathy, Roussy-Levy Hereditary Areflexic Dystasia, Charcot-Marie-Tooth Disease Type 1b, Roussy-Levy Syndrome
|
AD,AR
|
99.98
|
245 of 245
|
MTM1
|
Myotubular Myopathy, X-linked Centronuclear Myopathy , X-linked Myotubular Myopathy- Abnormal Genitalia Syndrome
|
X,XR,G
|
99.98
|
NA of NA
|
MUSK
|
Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome
|
AR
|
95.58
|
23 of 25
|
MYBPC1
|
Distal Arthrogryposis Type 1b, Lethal Congenital Contracture Syndrome, Congenital Myopathy With Tremor, Digitotalar Dysmorphism
|
AD,AR
|
100
|
13 of 13
|
MYH2
|
Proximal Myopathy And Ophthalmoplegia
|
AD,AR
|
99.98
|
31 of 31
|
MYH3
|
Distal Arthrogryposis, Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome, Autosomal Recessive Multiple Pterygium Syndrome, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Sheldon-Hall Syndrome
|
AD,AR
|
100
|
46 of 47
|
MYH8
|
Carney Complex Variant, Trismus- Pseudocamptodactyly Syndrome
|
AD
|
100
|
6 of 6
|
MYO9A
|
Congenital Myasthenic Syndrome
|
AR
|
99.62
|
7 of 7
|
MYOD1
|
Congenital Myopathy With Diaphragmatic Defects, Respiratory Insufficiency , And Dysmorphic Facies , Fetal Akinesia Deformation Sequence
|
AR
|
99.97
|
6 of 6
|
MYPN
|
Nemaline Myopathy, Childhood-Onset Nemaline Myopathy
|
AD,AR
|
99.94
|
49 of 49
|
NALCN
|
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome
|
AD,AR
|
99.97
|
69 of 69
|
NEB
|
Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy
|
AR
|
86.77
|
304 of 339
|
NEK9
|
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy, Lethal Congenital Contracture Syndrome
|
AR
|
99.98
|
4 of 4
|
NUP88
|
Fetal Akinesia Deformation Sequence
|
AR
|
95.82
|
3 of 3
|
PDX1
|
Pancreatic Permanent Neonatal Diabetes Mellitus
|
AD,AR
|
98.02
|
32 of 36
|
PHGDH
|
Neu-Laxova Syndrome, Phosphoglycerate Dehydrogenase Deficiency
|
AR
|
100
|
26 of 26
|
PI4KA
|
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
|
AR
|
99.76
|
4 of 4
|
PIEZO2
|
Distal Arthrogryposis, Gordon Syndrome, Marden-Walker Syndrome, Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
|
AD,AR
|
96.93
|
37 of 37
|
PIGS
|
Glycosylphosphatidylinositol Biosynthesis Defect
|
AR
|
100
|
6 of 6
|
PIP5K1C
|
Lethal Congenital Contracture Syndrome
|
AR
|
99.83
|
3 of 3
|
PLAGL1
|
Paternal Uniparental Disomy Of Chromosome 6, Transient Neonatal Diabetes Mellitus
|
–
|
95.56
|
2 of 2
|
PLEC
|
Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis Bullosa Simplex
|
AD,AR
|
99.98
|
113 of 113
|
PLOD2
|
Bruck Syndrome
|
AR
|
99.97
|
29 of 29
|
PLXND1
|
Moebius Syndrome
|
–
|
98.44
|
6 of 6
|
PMM2
|
Congenital Disorder Of Glycosylation Type Ia
|
AR
|
100
|
127 of 129
|
PPP3CA
|
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual , Undetermined Early-Onset Epileptic Encephalopathy
|
AD
|
99.98
|
16 of 16
|
PREPL
|
Congenital Myasthenic Syndrome, 2p21 Microdeletion Syndrome, Hypotonia-Cystinuria Syndrome
|
AR
|
99.92
|
7 of 12
|
PSAT1
|
Neu-Laxova Syndrome, Phosphoserine Aminotransferase Deficiency
|
AR
|
99.95
|
9 of 9
|
PSMB8
|
Proteasome-Associated Autoinflammatory Syndrome 1 And Digenic Forms
|
AR
|
100
|
11 of 11
|
RAPSN
|
Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome
|
AR
|
99.98
|
59 of 61
|
RARS2
|
Pontocerebellar Hypoplasia Type 6
|
AR
|
99.98
|
39 of 40
|
REV3L
|
Moebius Syndrome
|
|
99.08
|
7 of 7
|
RFT1
|
Congenital Disorder Of Glycosylation Type In
|
AR
|
99.98
|
18 of 18
|
RIPK4
|
Popliteal Pterygium Syndrome Lethal Type, Bartsocas-Papas Syndrome, Chand Syndrome
|
AR
|
99.98
|
16 of 16
|
RYR1
|
Central Core Disease Of Muscle, Minicore Myopathy With External Ophthalmoplegia , Myopathy, Congenital, With Fiber-Type Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital Myopathy With Myasthenic-Like Onset
|
AD,AR
|
97.63
|
733 of 746
|
SCN4A
|
Congenital Myasthenic Syndrome, Paramyotonia Congenita Of Von Eulenburg
|
AD,AR
|
99.77
|
136 of 142
|
SCO2
|
Autosomal Recessive Axonal Charcot-Marie- Tooth Disease Due To Copper Metabolism Defect, Leigh Syndrome With Cardiomyopathy
|
AD,AR
|
100
|
38 of 38
|
SELENON
|
Congoenital Myopathy With Fiber-Type Disproportion, Rigid Spine Muscular Dystrophy, Classic Multiminicore Myopathy
|
AD,AR
|
89
|
NA of NA
|
SHPK
|
Isolated Sedoheptulokinase Deficiency
|
–
|
99.96
|
2 of 2
|
SLC18A3
|
Congenital Myasthenic Syndrome, Fetal Akinesia Deformation Sequence
|
AR
|
99.97
|
5 of 5
|
SLC25A1
|
Congenital Myasthenic Syndrome
|
AR
|
90
|
23 of 25
|
SLC35A3
|
Arthrogryposis, Mental Retardation, And Seizures, Autism Spectrum Disorder- Epilepsy-Arthrogryposis Syndrome
|
AR
|
99.94
|
5 of 5
|
SLC5A7
|
Congenital Myasthenic Syndrome, Distal Neuronopathy Hereditary Motor Type VIIa
|
AD,AR
|
99.92
|
21 of 21
|
SLC6A9
|
Glycine Encephalopathy With Normal Serum Glycine
|
AR
|
99.99
|
5 of 5
|
SLC9A6
|
Christianson Syndrome
|
X,XD,G
|
98.87
|
NA of NA
|
SMN1
|
Spinal Muscular Atrophy
|
AR
|
5.2
|
17 of 91
|
SMN2
|
Spinal Muscular Atrophy
|
AR
|
7.6
|
0 of 3
|
SNAP25
|
Congenital Myasthenic Syndromes
|
AD
|
100
|
6 of 6
|
SOX10
|
Peripheral Demyelinating Neuropathy, Waardenburg Syndrome
|
AD
|
99.74
|
139 of 147
|
STAC3
|
Native American Myopathy
|
AR
|
99.98
|
5 of 5
|
STAT3
|
Multisystem Autoimmune Disease, Permanent Neonatal Diabetes Mellitus
|
AD
|
100
|
171 of 171
|
STIM1
|
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect, Myopathy, Tubular Aggregate, Stormorken Syndrome Stormorken-Sjaastad- Langslet Syndrome, Tubular Aggregate Myopathy
|
AD,AR
|
100
|
28 of 28
|
SYNE1
|
Arthrogryposis Multiplex Congenita, Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive Ataxia
|
AD,AR
|
99.99
|
193 of 193
|
SYT2
|
Congenital Myasthenic Syndrome With Or Without Motorneuropathy
|
AD
|
99.98
|
4 of 4
|
TBCD
|
Progressive Encephalopathy, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
|
AR
|
94.89
|
28 of 28
|
TGFB3
|
Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection
|
AD
|
100
|
34 of 35
|
TK2
|
External Ophthalmoplegia With Mitochondrial DNA Deletions
|
AR
|
97.08
|
64 of 65
|
TNNI2
|
Distal Arthrogryposis Type 2b, Digitotalar Dysmorphism, Sheldon-Hall Syndrome
|
AD
|
100
|
11 of 11
|
TNNT1
|
Nemaline Myopathy
|
AR
|
89.94
|
7 of 8
|
TNNT3
|
Distal Arthrogryposis Digitotalar Dysmorphism, Sheldon-Hall Syndrome
|
AD
|
99.98
|
5 of 5
|
TPM2
|
Distal Arthrogryposis, Congenital Myopathy With Fiber-type Disproportion, Nemaline Myopathy, Cap Myopathy, Digitotalar Dysmorphism, Sheldon-Hall Syndrome
|
AD,AR
|
100
|
41 of 41
|
TPM3
|
Congenital Myopathy With Fiber-Type Disproportion, Nemaline Myopathy, Cap Myopathy
|
AD,AR
|
100
|
27 of 27
|
TRIP4
|
Congenital Muscular Dystrophy, Spinal Muscular Atrophy With Congenital Bone Fractures, Congenital Muscular Dystrophy-Respiratory- Skin Abnormalities- Joint Hyperlaxity Syndrome
|
AR
|
99.92
|
3 of 3
|
TRPV4
|
Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, Metatropic Dysplasia, Parastremmatic Dwarfism, Scapuloperoneal Spinal Muscular Atrophy, Spondylometaphyseal Dysplasia
|
AD
|
100
|
88 of 88
|
TSEN2
|
Pontocerebellar Hypoplasia
|
AR
|
95.47
|
4 of 5
|
TSEN54
|
Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia
|
AR
|
96.94
|
20 of 22
|
UBA1
|
Infantile-Onset X- linked Spinal Muscular Atrophy
|
X,XR,G
|
99.58
|
NA of NA
|
VAMP1
|
Spastic Ataxia, Congenital Myasthenic Syndrome
|
AD,AR
|
99.51
|
8 of 8
|
VIPAS39
|
Arthrogryposis, Renal Dysfunction, And Cholestasis
|
AR
|
100
|
15 of 15
|
VPS33B
|
Arthrogryposis, Renal Dysfunction, And Cholestasis
|
AR
|
100
|
62 of 62
|
VRK1
|
Pontocerebellar Hypoplasia
|
AR
|
99.64
|
15 of 15
|
YY1
|
Gabriele-de Vries Syndrome
|
AD
|
99.89
|
13 of 13
|
ZBTB42
|
Lethal Congenital Contracture Syndrome
|
AR
|
99.81
|
1 of 1
|
ZC4H2
|
Wieacker-Wolff Syndrome, Intellectual Disability- Developmental Delay-Contractures Syndrome
|
X,XR,XD,G
|
99.69
|
NA of NA
|
ZFP57
|
Transient Neonatal Diabetes Mellitus
|
AD
|
100
|
15 of 15
|
ZMPSTE24
|
Mandibuloacral Dysplasia With Type B Lipodystrophy, Hutchinson- Gilford Progeria Syndrome
|
AR
|
100
|
35 of 36
|
ZNF335
|
Primary Autosomal Recessive Microcephaly, Microcephalic Primordial Dwarfism
|
AR
|
99.83
|
20 of 20
|
ZNHIT3
|
Peho Syndrome
|
AR
|
73.96
|
1 of 1
|