Arthrogryposis (Version 1.1)

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.

Updated following literature review 25/11/2025.

Panel Activity

23 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)
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)
Melanie Marty (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Krithika Murali (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)

236 Entities

235 reviewed, 165 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 236 Entitiess
Green Green List (high evidence)	ACTA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myopathy 2C, severe infantile, autosomal dominant, MIM# 620278 Tags
Green 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 Green List (high evidence)	ADAMTS10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Weill-Marchesani syndrome 1, recessive, MIM#277600 Tags
Green 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 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 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 Green List (high evidence)	ALG14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ALG14-congenital disorder of glycosylation, MONDO:0100559 Tags
Green 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 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 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 Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bohring-Opitz syndrome , MIM#605039 Tags
Green Green List (high evidence)	ATN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM# 618494 Tags
Green 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 Green List (high evidence)	B3GAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600 Tags
Green 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 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 Green List (high evidence)	BORCS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal storage disease, MONDO:0002561, BORCS5-related Tags
Green Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498 Tags
Green 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 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 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 Green List (high evidence)	CHRNA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 Tags
Green 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 Green List (high evidence)	CHRND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 Tags
Green Green List (high evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Escobar syndrome, MIM# 265000 Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009668 Tags
Green 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 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 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 Green List (high evidence)	COG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIl 614576 Tags
Green Green List (high evidence)	COL12A1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ullrich congenital muscular dystrophy 2 , MIM# 616470 Tags
Green 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 Green List (high evidence)	COL6A1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090 Tags
Green Green List (high evidence)	COL6A2	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green Green List (high evidence)	COL6A3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bethlem myopathy, MIM#158810 Ullrich congenital muscular dystrophy, MIM#254090 Tags
Green 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 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 Green List (high evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Desmosterolosis, MONDO:0011217 Tags
Green Green List (high evidence)	DOK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 3, MIM# 618389 Myasthenic syndrome, congenital, 10, MIM# 254300 Tags
Green 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 Green List (high evidence)	DSE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ehlers-Danlos syndrome, musculocontractural type 2, MIM# 615539 Tags
Green Green List (high evidence)	DST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes congenital myopathy MONDO:0019952, DST-related Tags
Green 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 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 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 Green List (high evidence)	EMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, MIM#310300 Tags
Green Green List (high evidence)	ERCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrooculofacioskeletal syndrome 2, MIM# 610756 Tags
Green 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 Green List (high evidence)	ERCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebrooculofacioskeletal syndrome 1, MIM# 214150 Tags
Green Green List (high evidence)	ERCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cockayne syndrome, type A, MIM# 216400 Tags
Green 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 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 Green List (high evidence)	FGFR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410 Tags
Green 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 Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bruck syndrome 1 MIM#259450 Tags
Green Green List (high evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 MIM#613153 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 MIM#606612 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 MIM#607155 Tags
Green Green List (high evidence)	FKTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800 Tags
Green 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 Green List (high evidence)	FLNB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes filamin-related bone disorder MONDO:0019690 Tags
Green 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 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 Green List (high evidence)	GAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 89, MIM# 619124 Tags
Green Green List (high evidence)	GBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease, perinatal lethal,MIM# 608013 Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IV, MIM# 232500 Tags
Green 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 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 Green List (high evidence)	GMPPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350) Tags
Green 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 Green List (high evidence)	IGHMBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 1, MIM# 604320 Tags
Green Green List (high evidence)	IRF6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Popliteal pterygium syndrome 1MIM#119500 Tags
Green Green List (high evidence)	ISPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 Tags new gene name
Green Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes KAT6B-related multiple congenital anomalies syndrome MONDO:0036042 Tags
Green 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 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 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 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 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 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 Green List (high evidence)	KLHL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes PERCHING syndrome, MIM# 617055 Tags
Green 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 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 Green List (high evidence)	LARGE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154 Tags
Green Green List (high evidence)	LGI4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468 Tags
Green 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 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 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 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 Green List (high evidence)	MADD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes DEEAH syndrome, MIM# 619004 Tags
Green 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 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 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 Green List (high evidence)	MTM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes X-linked myotubular myopathy MONDO:0010683 Tags
Green Green List (high evidence)	MUSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 1, MIM# 208150 MONDO:0100101 Tags
Green 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 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 Green List (high evidence)	MYH3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469 Tags
Green Green List (high evidence)	MYH8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trismus-pseudocamptodactyly syndrome (MIM#158300) Tags
Green 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 Green List (high evidence)	MYO18B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549 Tags
Green 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 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 Green List (high evidence)	NKAP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type, MIM# 301039 Tags
Green 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 Green List (high evidence)	ORAI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, tubular aggregate, 2, MIM# 615883 Tags
Green Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100 Tags
Green Green List (high evidence)	PEX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870 Tags
Green Green List (high evidence)	PEX19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886 Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 Tags
Green Green List (high evidence)	PFKM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease VII (MIM#232800) Tags
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neu-Laxova syndrome 1, MIM# 256520 Tags
Green 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 Green List (high evidence)	PIGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143 Tags
Green 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 Green List (high evidence)	PLOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bruck syndrome 2, MIM# 609220 Tags
Green 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 Green List (high evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157 Tags
Green Green List (high evidence)	POMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249 Tags
Green Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, MIM# 609308 Tags
Green Green List (high evidence)	POMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150 Tags
Green 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 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 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 Green List (high evidence)	PRUNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MIM#617481 Tags
Green Green List (high evidence)	PSAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neu-Laxova syndrome 2, MIM# 616038 Tags
Green 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 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 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 Green List (high evidence)	RYR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia, MIM# 117000 Congenital myopathy 1B, autosomal recessive, MIM# 255320 Tags
Green 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 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 Green List (high evidence)	SELENON	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myopathy 3 with rigid spine, MIM# 602771 Tags
Green 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 Green List (high evidence)	SKI	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shprintzen-Goldberg syndrome, MIM# 182212 Tags
Green 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 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 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 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 Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myhre syndrome, MIM# 139210 Tags
Green 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 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 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 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 Green List (high evidence)	SYNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Distal arthrogryposis Tags
Green 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 Green List (high evidence)	TGFB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 4, MIM# 614816 Tags
Green Green List (high evidence)	TGFB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 5, MI# 615582 Tags
Green Green List (high evidence)	TGFBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 1, MIM# 609192 Tags
Green Green List (high evidence)	TGFBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 2, MIM# 610168 Tags
Green 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 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 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 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 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 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 Green List (high evidence)	TPM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myopathy 4B, autosomal recessive, MIM# 609284 Tags
Green 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 Green List (high evidence)	TRPV4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, autosomal dominant 8, MIM# 600175 Tags
Green Green List (high evidence)	TSEN54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2A, MIM# 277470 Pontocerebellar hypoplasia type 4, MIM# 225753 Tags
Green 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 Green List (high evidence)	TUBB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Fibrosis of extraocular muscles, congenital, 3A (MIM#600638) Neuropathy Tags
Green 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 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 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 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 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 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 Amber List (moderate evidence)	ACTB	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Baraitser-Winter syndrome 1 (MIM#243310) Tags
Amber 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 Amber List (moderate evidence)	ASAH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Farber lipogranulomatosis, MIM# 228000 Tags
Amber Amber List (moderate evidence)	ATAD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Hyperekplexia 4, MIM# 618011 Tags
Amber 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 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 Amber List (moderate evidence)	CHRNE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital myasthenic syndrome 4, MONDO:1040021 Tags
Amber 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 Amber List (moderate evidence)	COLQ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 5, MIM# 603034 Tags
Amber 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 Amber List (moderate evidence)	ELMSAN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related Tags new gene name
Amber 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 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 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 Amber List (moderate evidence)	ISLR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes hydrocephalus arthrogryposis abdominal distension Tags
Amber 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 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 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 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 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 Amber List (moderate evidence)	PEX11B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 14B - MIM#614920 Tags
Amber Amber List (moderate evidence)	PEX12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859 Tags
Amber Amber List (moderate evidence)	PEX13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883) Tags
Amber Amber List (moderate evidence)	PEX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Tags
Amber Amber List (moderate evidence)	PEX16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Tags
Amber Amber List (moderate evidence)	PEX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866 Tags
Amber Amber List (moderate evidence)	PEX26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 Tags
Amber Amber List (moderate evidence)	PEX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882 Tags
Amber Amber List (moderate evidence)	PEX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110) Tags
Amber Amber List (moderate evidence)	PEX6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) Tags
Amber Amber List (moderate evidence)	POMGNT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135 Tags
Amber 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 Amber List (moderate evidence)	SEC31A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Halperin-Birk syndrome, MIM# 618651 Tags
Amber 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 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 Amber List (moderate evidence)	SMAD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 3, MIM# 613795 Tags
Amber Amber List (moderate evidence)	SVIL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myofibrillar myopathy, MIM#619040 Tags
Amber 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 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 Amber List (moderate evidence)	UNC50	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis multiplex congenita MONDO:0015168 Tags
Amber 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 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 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 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 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 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 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 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 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 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 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 Red List (low evidence)	DNM2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Lethal congenital contracture syndrome 5, MIM# 615368 Tags
Red 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 Red List (low evidence)	EXOSC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1B, MIM# 614678 Tags
Red 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 Red List (low evidence)	FGFR3	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red 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 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 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 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 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 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 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 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 Red List (low evidence)	PLOD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400 Tags
Red 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 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 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 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 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 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

Major version comments

2025-11-25 02:33 Zornitza Stark (Victorian Clinical Genetics Services) promoted panel to 1.0
Fully reviewed and promoted to V1.

Arthrogryposis (Version 1.1)

23 reviewers

236 Entities

235 reviewed, 165 green

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1 review

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Phenotypes

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2 reviews

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Phenotypes

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2 reviews

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Phenotypes

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2 reviews

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Phenotypes

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2 reviews

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Phenotypes

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1 review

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Phenotypes

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1 review

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1 review

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Phenotypes

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1 review

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Phenotypes

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1 review

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Phenotypes

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1 review

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Phenotypes

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1 review

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Phenotypes

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1 review

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Phenotypes

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2 reviews

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Phenotypes

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1 review

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Phenotypes

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1 review

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Phenotypes

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1 review

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Phenotypes

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1 review

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Phenotypes

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