1. Panels
  2. Arthrogryposis

Arthrogryposis (Version 0.416)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Flexion contracture, HP:0001371
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.

This panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.
Panel Activity

21 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Sue White (Victorian Clinical Genetics Services)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Tiong Tan (Victorian Clinical Genetics Services)

  • Anna Le Fevre (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Arina Puzriakova (Genomics England)

  • Manny Jacobs (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Achchuthan Shanmugasundram (Genomics England)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

211 Entities

142 reviewed, 163 green

List Entity Reviews Mode of inheritance Details
211 Entitiess
Green List (high evidence)
ACTA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ACTC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MONDO:0019942 ACTC1 related distal arthrogrypsis
Tags
Green List (high evidence)
ADAMTS10
2 reviews
2 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Weill-Marchesani syndrome 1, recessive, MIM#277600
Tags
Green List (high evidence)
ADAMTS15
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis, distal, type 12, MIM# 620545
Tags
Green List (high evidence)
ADCY6
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 8, OMIM # 616287
  • MONDO:0014570
Tags
Green List (high evidence)
ADGRG6
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lethal congenital contracture syndrome 9
  • OMIM #616503
  • MONDO:0014670
Tags
Green List (high evidence)
ALG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Id 601110
Tags
Green List (high evidence)
ANTXR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyaline fibromatosis syndrome, MIM# 228600
  • MONDO:0009229
Tags
Green List (high evidence)
ASCC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 2 MIM#616867
Tags
Green List (high evidence)
ASXL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ATP1A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602
  • hydrops
  • arthrogryposis
  • microcephaly
  • malformations of cortical development
  • dysmorphic features
  • severe respiratory insufficiency
Tags
Green List (high evidence)
BICD2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290
  • Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291
Tags
Green List (high evidence)
BIN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Centronuclear myopathy 2
  • OMIM #255200
Tags
Green List (high evidence)
CACNA1E
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 69 618285
Tags
Green List (high evidence)
CACNA1S
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM #620246
Tags
Green List (high evidence)
CHAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenic syndrome, congenital, 6, presynaptic, 254210
Tags
  • treatable
Green List (high evidence)
CHRNA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CHRNB1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313
  • Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Tags
Green List (high evidence)
CHRND
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CHRNE
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CHRNG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Escobar syndrome, MIM# 265000
  • Multiple pterygium syndrome, lethal type, MIM# 253290
  • MONDO:0009926
  • MONDO:0009668
Tags
Green List (high evidence)
CHST14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1 (MIM#601776)
Tags
Green List (high evidence)
CNTNAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypomyelinating neuropathy, congenital, 3, MIM#618186
  • Lethal congenital contracture syndrome 7, MIM# 616286
Tags
Green List (high evidence)
COASY
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia
  • microcephaly
  • arthrogryposis
Tags
Green List (high evidence)
COL12A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
COL25A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • arthrogryposis multiplex congenita MONDO:0015168
Tags
Green List (high evidence)
COL6A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
COL6A2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
COL6A3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
COLQ
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CRLF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cold-induced sweating syndrome 1, MIM#272430
Tags
Green List (high evidence)
CSMD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
Tags
Green List (high evidence)
DHCR24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Desmosterolosis, MIM# 602398
Tags
Green List (high evidence)
DNM2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DOK7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DPAGT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ij
  • Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
Tags
Green List (high evidence)
DYNC1H1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
  • Mental retardation, autosomal dominant 13, MIM# 614563
  • Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600
Tags
Green List (high evidence)
EBP
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Tags
Green List (high evidence)
ECEL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, distal, type 5D, MIM# 615065
Tags
Green List (high evidence)
ERCC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cerebrooculofacioskeletal syndrome 3, MIM# 616570
Tags
Green List (high evidence)
ERCC6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ERCC8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ERGIC1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita 2, neurogenic type
  • OMIM # 208100
Tags
Green List (high evidence)
EXOSC3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FBN2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Contractural arachnodactyly, congenital, MIM# 121050
Tags
Green List (high evidence)
FGFR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FGFR3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FILIP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775
Tags
Green List (high evidence)
FKBP10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FKRP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FKTN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FLNA
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • FLNA-related disorders
  • Otopalatodigital syndrome, type I 311300
  • Otopalatodigital syndrome, type II 304120
  • Terminal osseous dysplasia 300244
Tags
Green List (high evidence)
FLNB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FLNC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiomyopathy, familial restrictive 5 617047
  • Myopathy, distal, 4 614065
  • Myopathy, myofibrillar, 5 609524
Tags
Green List (high evidence)
FLVCR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, OMIM #225790
Tags
Green List (high evidence)
GBA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
GBE1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
GLDN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lethal congenital contracture syndrome 11, MIM# 617194
  • MONDO:0014965
Tags
Green List (high evidence)
GLE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lethal congenital contracture syndrome 1, MIM# 253310
Tags
Green List (high evidence)
GMPPB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
HSPG2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Schwartz-Jampel syndrome, type 1, MIM# 255800
  • MONDO:0009717
Tags
Green List (high evidence)
IRF6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ISPD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
KAT6B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
KCNK3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, KCNK3-related
  • developmental delay with sleep apnoea (DDSA)
Tags
Green List (high evidence)
KIAA1109
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alkuraya-Kucinskas syndrome, MIM# 617822
Tags
Green List (high evidence)
KIDINS220
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ventriculomegaly and arthrogryposis, MIM# 619501
  • cerebral ventriculomegaly
  • limb contractures
Tags
Green List (high evidence)
KIF5C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 2, OMIM #615282
Tags
Green List (high evidence)
KLHL40
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, MIM# 615348
Tags
  • founder
Green List (high evidence)
KLHL41
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nemaline myopathy 9, MIM# 615731
Tags
Green List (high evidence)
KLHL7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
KY
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar, 7, OMIM #617114
Tags
Green List (high evidence)
LAMA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
  • Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Tags
Green List (high evidence)
LARGE1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
LGI4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
LIFR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM #601559
Tags
Green List (high evidence)
LMNA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, congenital, OMIM #613205
Tags
Green List (high evidence)
LMOD3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nemaline myopathy 10, MIM# 616165
Tags
Green List (high evidence)
LMX1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nail-patella syndrome, MIM# 161200, MONDO:0008061
Tags
Green List (high evidence)
MAGEL2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Schaaf-Yang syndrome
Tags
Green List (high evidence)
MED11
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327
Tags
Green List (high evidence)
MED12
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MED12-related disorders
Tags
Green List (high evidence)
MTM1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MUSK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MYBPC1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, distal, type 1B 614335
  • Lethal congenital contracture syndrome 4, MIM# 614915
Tags
Green List (high evidence)
MYH2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Proximal myopathy and ophthalmoplegia, MIM# 605637
Tags
Green List (high evidence)
MYH3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MYH8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MYMK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Carey-Fineman-Ziter syndrome 254940
Tags
  • founder
Green List (high evidence)
NALCN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266
Tags
Green List (high evidence)
NEB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis multiplex congenita 6, MIM# 619334
Tags
Green List (high evidence)
NUP88
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fetal akinesia deformation sequence 4, MIM# 618393
Tags
Green List (high evidence)
ORAI1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX11B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX12
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX13
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX14
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX16
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX19
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX26
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PFKM
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PIEZO2
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, distal, type 3 (MIM#114300)
  • Arthrogryposis, distal, type 5 (MIM#108145)
  • Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Tags
Green List (high evidence)
PIP5K1C
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lethal congenital contractural syndrome 3, MIM# 611369
Tags
Green List (high evidence)
PLOD1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PLOD2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PMM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ia, OMIM #212065
Tags
Green List (high evidence)
POMGNT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
POMGNT2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
POMK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
POMT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
POMT2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
POR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750
Tags
Green List (high evidence)
PPP3CA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM #618265
Tags
Green List (high evidence)
PRG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250
Tags
Green List (high evidence)
PSMF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Tags
Green List (high evidence)
RAPSN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fetal akinesia deformation sequence 2 MIM# 618388
  • AChR deficiency
  • fetal akinesia
  • IUGR
  • micrognathia
  • hypokinesia
  • contractures
  • muscular hypotonia
  • feeding difficulties
  • severe respiratory insufficiency
  • history of miscarriage
Tags
Green List (high evidence)
RIPK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650
Tags
Green List (high evidence)
RYR1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SCARF2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Van den Ende-Gupta syndrome, MIM# 600920
Tags
Green List (high evidence)
SCN1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita
  • Dravet syndrome, MIM# 607208
Tags
Green List (high evidence)
SELENON
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SENP7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Tags
Green List (high evidence)
SKI
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC29A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Tags
Green List (high evidence)
SLC35A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arthrogryposis, impaired intellectual development, and seizures, OMIM #615553
Tags
Green List (high evidence)
SLC5A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Tags
Green List (high evidence)
SLC6A9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Glycine encephalopathy with normal serum glycine, MIM#617301
  • arthrogryposis
Tags
Green List (high evidence)
SMAD3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SMAD4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SMN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy, type 0
Tags
Green List (high evidence)
SMPD4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly
  • congenital arthrogryposis, intellectual disability
Tags
Green List (high evidence)
STAC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopathy, congenital, Baily-Bloch, MIM# 255995
Tags
Green List (high evidence)
STIM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, tubular aggregate, 1 160565
  • Stormorken syndrome 185070
Tags
Green List (high evidence)
SYNE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Distal arthrogryposis
Tags
Green List (high evidence)
TBCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
Tags
Green List (high evidence)
TGFB2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TGFB3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TGFBR1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TGFBR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TNNI2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, distal, type 2B1, MIM# 601680
Tags
Green List (high evidence)
TNNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nemaline myopathy 5, Amish type, MIM# 605355
Tags
Green List (high evidence)
TNNT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, distal, type 2B2, MIM# 618435
Tags
Green List (high evidence)
TOR1A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita, MIM#618947
Tags
Green List (high evidence)
TOR1AIP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072
  • Progeroid appearance
  • Cataracts
  • Microcephaly
  • Deafness
  • Contractures
Tags
Green List (high evidence)
TPM2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, distal, type 1A/2B4 (MIM#108120)
Tags
Green List (high evidence)
TPM3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TRIP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Tags
Green List (high evidence)
TRPV4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TSEN54
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TTN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Salih myopathy
  • Muscular dystrophy, limb-girdle, autosomal recessive 10
Tags
Green List (high evidence)
UBA1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830
Tags
Green List (high evidence)
VAMP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 25, MIM# 618323
Tags
Green List (high evidence)
VIPAS39
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Tags
Green List (high evidence)
VPS33B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Tags
Green List (high evidence)
ZC4H2
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wieacker-Wolff syndrome (MIM#314580)
Tags
Green List (high evidence)
ZMPSTE24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612
  • MONDO:0012074
  • Restrictive dermopathy, lethal, MIM# 275210
  • MONDO:0010143
Tags
Amber List (moderate evidence)
ARX
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 1 308350
  • Hydranencephaly with abnormal genitalia 300215
  • Lissencephaly, X-linked 2 300215
  • Mental retardation, X-linked 29 and others 300419
  • Partington syndrome 309510
  • Proud syndrome 300004
Tags
Amber List (moderate evidence)
ATAD1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hyperekplexia 4, MIM# 618011
Tags
Amber List (moderate evidence)
ATRX
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome, MIM# 301040
Tags
Amber List (moderate evidence)
B3GALT6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Al-Gazali syndrome, OMIM #609465
Tags
Amber List (moderate evidence)
CNTN1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Congenital myopathy 12, OMIM #612540
Tags
Amber List (moderate evidence)
DPM2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iu, MIM# 615042
Tags
Amber List (moderate evidence)
ERBB3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Lethal congenital contractural syndrome 2, MIM# 607598
Tags
Amber List (moderate evidence)
FAM20C
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Raine syndrome, MIM# 259775
Tags
Amber List (moderate evidence)
HS2ST1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194
  • Intellectual disability
  • dysmorphic features
  • congenital anomalies
  • arthrogryposis
Tags
Amber List (moderate evidence)
ISLR2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • hydrocephalus
  • arthrogryposis
  • abdominal distension
Tags
Amber List (moderate evidence)
KIF21A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Severe fetal akinesia with arthrogryposis multiplex
Tags
Amber List (moderate evidence)
MET
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Arthrogryposis, distal, type 11 (MIM#620019), AD
Tags
Amber List (moderate evidence)
MYLPF
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Distal arthrogryposis type 1C (DA1C), MIM#619110
Tags
Amber List (moderate evidence)
MYO9A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
Tags
Amber List (moderate evidence)
NEK9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Lethal congenital contracture syndrome 10, MIM# 617022
  • Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262
Tags
Amber List (moderate evidence)
SCYL2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita (AMC)
  • Zain syndrome
Tags
Amber List (moderate evidence)
SLC18A3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
  • arthrogryposis
Tags
Amber List (moderate evidence)
SLC9A6
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
Tags
Amber List (moderate evidence)
THOC2
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arthrogryposis (MONDO:0008779), THOC2-related
Tags
Amber List (moderate evidence)
TNNI1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arthrogryposis MONDO:0008779, TNNI1-related
Tags
Amber List (moderate evidence)
UNC50
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita
Tags
Amber List (moderate evidence)
VRK1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia type 1A, OMIM# 607596
Tags
Amber List (moderate evidence)
ZBTB42
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Lethal congenital contracture syndrome 6, MIM# 616248
Tags
Red List (low evidence)
AP1S2
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Pettigrew syndrome, MIM# 304340
Tags
Red List (low evidence)
B3GALNT2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
Tags
Red List (low evidence)
B3GNT2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy
Tags
Red List (low evidence)
B4GAT1
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Tags
Red List (low evidence)
CAMLG
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital disorder of glycosylation type IIz, OMIM #: 620201
Tags
Red List (low evidence)
CASK
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • FG syndrome 4, MIM# 300422
  • Mental retardation, with or without nystagmus, MIM# 300422
Tags
Red List (low evidence)
COG8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIh 611182
Tags
Red List (low evidence)
DAG1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Tags
Red List (low evidence)
DCX
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly, X-linked, MIM# 300067
Tags
Red List (low evidence)
EIF2S3
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • MEHMO syndrome, MIM# 300148
Tags
Red List (low evidence)
FGD1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Aarskog-Scott syndrome, MIM# 305400
  • Mental retardation, X-linked syndromic 16, MIM# 305400
Tags
Red List (low evidence)
FHL1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
  • Myopathy, X-linked, with postural muscle atrophy, MIM# 300696
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, MIM# 300718
  • Scapuloperoneal myopathy, X-linked dominant, MIM# 300695
Tags
Red List (low evidence)
GPC3
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Tags
Red List (low evidence)
KIF26B
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis
Tags
Red List (low evidence)
L1CAM
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hydrocephalus due to aqueductal stenosis 307000
Tags
Red List (low evidence)
MYH7
2 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Laing distal myopathy 160500
  • Myopathy, myosin storage, autosomal dominant 608358
  • Myopathy, myosin storage, autosomal recessive 255160
  • Scapuloperoneal syndrome, myopathic type 181430
Tags
Red List (low evidence)
MYL1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414
Tags
Red List (low evidence)
NFATC2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Skeletal system disorder MONDO:0005172
Tags
Red List (low evidence)
OFD1
1 review
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 10, MIM# 300804
  • Orofaciodigital syndrome I, MIM# 311200
  • Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Tags
Red List (low evidence)
RBM10
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • TARP syndrome, MIM# 311900
Tags
Red List (low evidence)
TBX22
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate with ankyloglossia, MIM# 303400
Tags
Red List (low evidence)
TMEM5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041
Tags
Red List (low evidence)
UNC80
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801
Tags
Red List (low evidence)
USP14
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Syndromic disease MONDO:0002254, USP14-related
  • Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features
Tags
Red List (low evidence)
ZIC3
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 1, X-linked, MIM# 306955
  • VACTERL association, X-linked, MIM# 314390
Tags

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  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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