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Arthrogryposis v0.411 PSMF1 Zornitza Stark Marked gene: PSMF1 as ready
Arthrogryposis v0.411 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Arthrogryposis v0.411 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Arthrogryposis v0.411 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Arthrogryposis v0.410 PSMF1 Zornitza Stark gene: PSMF1 was added
gene: PSMF1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Review for gene: PSMF1 was set to GREEN
Added comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data.
Sources: Expert list
Arthrogryposis v0.409 PIP5K1C Zornitza Stark Publications for gene: PIP5K1C were set to 17701898
Arthrogryposis v0.408 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Arthrogryposis v0.408 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Arthrogryposis v0.407 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Arthrogryposis v0.407 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Arthrogryposis v0.406 PIP5K1C Achchuthan Shanmugasundram reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 38491417; Phenotypes: Lethal congenital contractural syndrome 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.406 FILIP1 Zornitza Stark Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita MONDO:0015168, FILIP1-related to Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775
Arthrogryposis v0.405 FILIP1 Zornitza Stark reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.405 THOC2 Elena Savva Classified gene: THOC2 as Amber List (moderate evidence)
Arthrogryposis v0.405 THOC2 Elena Savva Gene: thoc2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.405 THOC2 Elena Savva Classified gene: THOC2 as Amber List (moderate evidence)
Arthrogryposis v0.405 THOC2 Elena Savva Gene: thoc2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.404 THOC2 Elena Savva Classified gene: THOC2 as Amber List (moderate evidence)
Arthrogryposis v0.404 THOC2 Elena Savva Gene: thoc2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.403 THOC2 Elena Savva Marked gene: THOC2 as ready
Arthrogryposis v0.403 THOC2 Elena Savva Gene: thoc2 has been classified as Red List (Low Evidence).
Arthrogryposis v0.403 THOC2 Elena Savva gene: THOC2 was added
gene: THOC2 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: THOC2 were set to PMID: 34976470; 37945483
Phenotypes for gene: THOC2 were set to Arthrogryposis (MONDO:0008779), THOC2-related
Review for gene: THOC2 was set to AMBER
Added comment: PMID: 34976470 - arthrogryposis multiplex congenita phenotype (AMC) in two male fetuses in a family, caused by splice deletion c.2482-1_2484delGTCA which was mat inherited. No splice studies conducted, mother was normal.
Postulate that amorphic or severe null pathogenic variants (possible complete loss of function) lead to AMC phenotype

PMID: 37945483 - a proband with AMC and the same splice site mutation ^ above, but de novo. Cytoplasmic bodies also detected in muscle
Sources: Literature
Arthrogryposis v0.402 ADAMTS15 Zornitza Stark Phenotypes for gene: ADAMTS15 were changed from Arthrogryposis (MONDO:0008779), ADMATS15-related to Arthrogryposis, distal, type 12, MIM# 620545
Arthrogryposis v0.401 ADAMTS15 Zornitza Stark reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 12, MIM# 620545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.401 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Arthrogryposis v0.401 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.400 SENP7 Elena Savva Marked gene: SENP7 as ready
Arthrogryposis v0.400 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.400 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Arthrogryposis v0.400 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.399 SENP7 Elena Savva gene: SENP7 was added
gene: SENP7 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to PMID: 37460201
Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Review for gene: SENP7 was set to AMBER
Added comment: PMID: 37460201
- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.
- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.
- Additional studies performed supporting downstream proteins expression being affected
- Neutropenia observed in 2/3 patients
Sources: Literature
Arthrogryposis v0.398 MED11 Zornitza Stark Phenotypes for gene: MED11 were changed from neurodevelopmental disorder MONDO#0700092, MED11-related to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327
Arthrogryposis v0.397 MED11 Zornitza Stark reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.397 KIF21A Chirag Patel Classified gene: KIF21A as Amber List (moderate evidence)
Arthrogryposis v0.397 KIF21A Chirag Patel Gene: kif21a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.396 KIF21A Chirag Patel gene: KIF21A was added
gene: KIF21A was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF21A were set to PMID: 34740919
Phenotypes for gene: KIF21A were set to Severe fetal akinesia with arthrogryposis multiplex
Review for gene: KIF21A was set to AMBER
Added comment: 2 unrelated consanguineous Turkish families with 5 affected fetuses with severe fetal akinesia with arthrogryposis multiplex. WES identified different homozygous LOF variants in KIF21A gene (p.Leu449* and p.Arg791Glufs*8). Parents and a healthy sibling were heterozygous carriers. No functional studies.
Sources: Literature
Arthrogryposis v0.395 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Arthrogryposis v0.395 ACTC1 Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence).
Arthrogryposis v0.395 ACTC1 Zornitza Stark Classified gene: ACTC1 as Green List (high evidence)
Arthrogryposis v0.395 ACTC1 Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence).
Arthrogryposis v0.394 ACTC1 Lilian Downie gene: ACTC1 was added
gene: ACTC1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to PMID: 36945405
Phenotypes for gene: ACTC1 were set to MONDO:0019942 ACTC1 related distal arthrogrypsis
Penetrance for gene: ACTC1 were set to Incomplete
Review for gene: ACTC1 was set to GREEN
Added comment: 5 new families (8 individuals) with a distral arthrogryposis phenotype:
multiple congenital contractures, neck pterygia, scoliosis, and congenital heart defects/cardiomyopathy, short stature
All missense variants
One variant p.Arg185Trp previously reported in patient with cardiac phenotype only
Sources: Literature
Arthrogryposis v0.394 FILIP1 Zornitza Stark Marked gene: FILIP1 as ready
Arthrogryposis v0.394 FILIP1 Zornitza Stark Gene: filip1 has been classified as Green List (High Evidence).
Arthrogryposis v0.394 FILIP1 Zornitza Stark Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita MONDO:0015168, FILIP1 to Arthrogryposis multiplex congenita MONDO:0015168, FILIP1-related
Arthrogryposis v0.394 FILIP1 Zornitza Stark Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita MONDO:0015168 to Arthrogryposis multiplex congenita MONDO:0015168, FILIP1
Arthrogryposis v0.393 FILIP1 Zornitza Stark Classified gene: FILIP1 as Green List (high evidence)
Arthrogryposis v0.393 FILIP1 Zornitza Stark Gene: filip1 has been classified as Green List (High Evidence).
Arthrogryposis v0.392 FILIP1 Paul De Fazio gene: FILIP1 was added
gene: FILIP1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FILIP1 were set to 36943452
Phenotypes for gene: FILIP1 were set to Arthrogryposis multiplex congenita MONDO:0015168
Penetrance for gene: FILIP1 were set to unknown
Review for gene: FILIP1 was set to GREEN
gene: FILIP1 was marked as current diagnostic
Added comment: 3 families, all consanguineous, reported with 3 different homozygous loss of function variants (2x NMD-predicted nonsense, 1x intragenic deletion of exons 3-6 of 6). In one family, the variant segregated in 3 affected siblings.

Phenotypes consist of congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly (-1.5 to -4 SD), and facial dysmorphism.
Sources: Literature
Arthrogryposis v0.392 NALCN Zornitza Stark Marked gene: NALCN as ready
Arthrogryposis v0.392 NALCN Zornitza Stark Gene: nalcn has been classified as Green List (High Evidence).
Arthrogryposis v0.392 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Arthrogryposis v0.392 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Green List (High Evidence).
Arthrogryposis v0.392 LIFR Zornitza Stark Marked gene: LIFR as ready
Arthrogryposis v0.392 LIFR Zornitza Stark Gene: lifr has been classified as Green List (High Evidence).
Arthrogryposis v0.392 KY Zornitza Stark Marked gene: KY as ready
Arthrogryposis v0.392 KY Zornitza Stark Gene: ky has been classified as Green List (High Evidence).
Arthrogryposis v0.392 KIF5C Zornitza Stark Marked gene: KIF5C as ready
Arthrogryposis v0.392 KIF5C Zornitza Stark Gene: kif5c has been classified as Green List (High Evidence).
Arthrogryposis v0.392 CNTN1 Zornitza Stark Marked gene: CNTN1 as ready
Arthrogryposis v0.392 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.392 CNTN1 Zornitza Stark Classified gene: CNTN1 as Amber List (moderate evidence)
Arthrogryposis v0.392 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.391 CNTN1 Zornitza Stark reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 12, OMIM #612540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.391 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Arthrogryposis v0.391 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Arthrogryposis v0.391 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Arthrogryposis v0.391 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.391 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Arthrogryposis v0.391 VRK1 Zornitza Stark Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.391 PPP3CA Zornitza Stark Marked gene: PPP3CA as ready
Arthrogryposis v0.391 PPP3CA Zornitza Stark Gene: ppp3ca has been classified as Green List (High Evidence).
Arthrogryposis v0.391 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Arthrogryposis v0.391 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Arthrogryposis v0.391 LMNA Zornitza Stark Marked gene: LMNA as ready
Arthrogryposis v0.391 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Arthrogryposis v0.391 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Arthrogryposis v0.391 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence).
Arthrogryposis v0.391 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Arthrogryposis v0.391 BIN1 Zornitza Stark Gene: bin1 has been classified as Green List (High Evidence).
Arthrogryposis v0.391 TMEM5 Zornitza Stark Marked gene: TMEM5 as ready
Arthrogryposis v0.391 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Red List (Low Evidence).
Arthrogryposis v0.391 TMEM5 Zornitza Stark Phenotypes for gene: TMEM5 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041
Arthrogryposis v0.390 TMEM5 Zornitza Stark Mode of inheritance for gene: TMEM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.389 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Arthrogryposis v0.389 FAM20C Zornitza Stark Gene: fam20c has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.389 FAM20C Zornitza Stark Mode of inheritance for gene: FAM20C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.388 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from to Raine syndrome, MIM# 259775
Arthrogryposis v0.387 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Arthrogryposis v0.387 DAG1 Zornitza Stark Gene: dag1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.387 DAG1 Zornitza Stark Phenotypes for gene: DAG1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Arthrogryposis v0.386 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Arthrogryposis v0.386 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Red List (Low Evidence).
Arthrogryposis v0.386 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
Arthrogryposis v0.385 SLC35A3 Chirag Patel Classified gene: SLC35A3 as Green List (high evidence)
Arthrogryposis v0.385 SLC35A3 Chirag Patel Gene: slc35a3 has been classified as Green List (High Evidence).
Arthrogryposis v0.384 LIFR Chirag Patel Classified gene: LIFR as Green List (high evidence)
Arthrogryposis v0.384 LIFR Chirag Patel Gene: lifr has been classified as Green List (High Evidence).
Arthrogryposis v0.384 SLC35A3 Chirag Patel gene: SLC35A3 was added
gene: SLC35A3 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to PMID: 28777481, 24031089, 28328131, 33416188
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, impaired intellectual development, and seizures, OMIM #615553
Review for gene: SLC35A3 was set to GREEN
Added comment: Arthrogryposis, impaired intellectual development, and seizures (AMRS) is an autosomal recessive disorder characterized by skeletal abnormalities, including arthrogryposis, short limbs, and vertebral malformations, impaired intellectual development, and seizures consistent with early-onset epileptic encephalopathy in some patients. Other features may include cleft palate, micrognathia, posterior embryotoxon, talipes valgus, rocker-bottom feet, and dysmorphic facies.

4 families with 12 affected individuals reported with biallelic variants in SLC35A3 gene. Functional studies in one family showed patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlcNAc compared to controls.
Sources: Expert list
Arthrogryposis v0.383 LIFR Chirag Patel gene: LIFR was added
gene: LIFR was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIFR were set to PMID: 9674905, 9674906, 14740318, 24988918, 35663789
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM #601559
Review for gene: LIFR was set to GREEN
Added comment: Patients reported as having either neonatal SJS or STWS presented a combination of a severe, prenatal-onset neuromuscular disorder with congenital joint contractures, respiratory and feeding difficulties, tendency to hyperthermia, and frequent death in infancy and a distinct campomelic-metaphyseal skeletal dysplasia. Multiple families with biallelic variants in LIFR gene reported.
Sources: Expert list
Arthrogryposis v0.382 KY Chirag Patel Classified gene: KY as Green List (high evidence)
Arthrogryposis v0.382 KY Chirag Patel Gene: ky has been classified as Green List (High Evidence).
Arthrogryposis v0.381 KIF5C Chirag Patel Classified gene: KIF5C as Green List (high evidence)
Arthrogryposis v0.381 KIF5C Chirag Patel Gene: kif5c has been classified as Green List (High Evidence).
Arthrogryposis v0.381 KY Chirag Patel gene: KY was added
gene: KY was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KY were set to PMID: 27484770, 27485408, 30591934, 35752288
Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7, OMIM #617114
Review for gene: KY was set to GREEN
Added comment: Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures. 4 families with 6 affected individuals, with homozygous variants in KY gene. Immunostaining showed absence of the KY protein in patient muscle, consistent with a loss of function in one family.
Sources: Expert list
Arthrogryposis v0.380 KIF5C Chirag Patel gene: KIF5C was added
gene: KIF5C was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF5C were set to Cortical dysplasia, complex, with other brain malformations 2, OMIM #615282
Review for gene: KIF5C was set to GREEN
Added comment: 2 families with 5 affecteds with severe malformations of cortical development. One family with 4 siblings with severe arthrogryposis. Same heterozygous missense variant found in both families (E237V) in KIF5C gene.

Family 1: unaffected mother was determined to be germline mosaic for the mutation. In vitro functional expression studies in E. coli and COS-7 cells showed that the mutant protein had a complete loss of ATP hydrolysis activity. In COS-7 cells, mutant KIF5C heavily colocalized with microtubules throughout the cell, but did not appear as puncta or accumulate in cortical clusters as did the wildtype protein. Poirier et al. (2013) postulated a dominant-negative effect. The findings extended the association between microtubule-based cellular processes and proper cortical development.
Sources: Expert list
Arthrogryposis v0.379 CACNA1S Chirag Patel Classified gene: CACNA1S as Green List (high evidence)
Arthrogryposis v0.379 CACNA1S Chirag Patel Gene: cacna1s has been classified as Green List (High Evidence).
Arthrogryposis v0.378 CNTN1 Chirag Patel gene: CNTN1 was added
gene: CNTN1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN1 were set to PMID:19026398
Phenotypes for gene: CNTN1 were set to Congenital myopathy 12, OMIM #612540
Review for gene: CNTN1 was set to RED
Added comment: Congenital myopathy-12 (CMYP12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures. One family reported with homozygous mutation in the CNTN1 gene.
Sources: Expert list
Arthrogryposis v0.377 CACNA1S Chirag Patel gene: CACNA1S was added
gene: CACNA1S was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: CACNA1S was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1S were set to PMID: 33060286, 31227654, 28012042
Phenotypes for gene: CACNA1S were set to Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM #620246
Review for gene: CACNA1S was set to GREEN
Added comment: Congenital myopathy-18 (CMYP18) is a disorder of the skeletal muscle characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy. There is clinical heterogeneity in the manifestations and severity, ranging from fetal akinesia sequence causing early death to onset of symptoms in adulthood.
Sources: Expert list
Arthrogryposis v0.376 B3GALT6 Chirag Patel Classified gene: B3GALT6 as Amber List (moderate evidence)
Arthrogryposis v0.376 B3GALT6 Chirag Patel Gene: b3galt6 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.376 VRK1 Chirag Patel Classified gene: VRK1 as Amber List (moderate evidence)
Arthrogryposis v0.376 VRK1 Chirag Patel Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.375 B3GALT6 Chirag Patel gene: B3GALT6 was added
gene: B3GALT6 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALT6 were set to PMID: 29443383, 25149931
Phenotypes for gene: B3GALT6 were set to Al-Gazali syndrome, OMIM #609465
Review for gene: B3GALT6 was set to AMBER
Added comment: Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality.

In an infant with Al-Gazali syndrome, Sellars et al. (2014) identified compound heterozygous missense mutations in the B3GALT6 gene. The mutation, which was found by exome sequencing, segregated with the disorder in the family.

In 1 of the Palestinian infants with Al-Gazali syndrome reported by al-Gazali et al. (1999), Ben-Mahmoud et al. (2018) identified homozygosity for a missense mutation in the B3GALT6 gene. The parents were heterozygous for the mutation.
Sources: Expert list
Arthrogryposis v0.374 VRK1 Chirag Patel gene: VRK1 was added
gene: VRK1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to PMID: 21937992, 21937992
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, OMIM# 607596
Review for gene: VRK1 was set to AMBER
Added comment: contractures reported and mutation found in 2 families
Sources: Expert list
Arthrogryposis v0.373 PPP3CA Chirag Patel Classified gene: PPP3CA as Green List (high evidence)
Arthrogryposis v0.373 PPP3CA Chirag Patel Gene: ppp3ca has been classified as Green List (High Evidence).
Arthrogryposis v0.372 PMM2 Chirag Patel Classified gene: PMM2 as Green List (high evidence)
Arthrogryposis v0.372 PMM2 Chirag Patel Gene: pmm2 has been classified as Green List (High Evidence).
Arthrogryposis v0.372 PPP3CA Chirag Patel gene: PPP3CA was added
gene: PPP3CA was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP3CA were set to PMID: 29432562
Phenotypes for gene: PPP3CA were set to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM #618265
Review for gene: PPP3CA was set to GREEN
Added comment: 2 unrelated patients with arthrogryposis, cleft palate, craniosynostosis, micrognathia, short stature, and impaired intellectual development. Whole-exome sequencing (+ Sanger confirmation) found de novo heterozygous mutations in the autoinhibitory domain of PPP3CA gene. Using a yeast model, the mutations were found to be constitutively activating.
Sources: Expert list
Arthrogryposis v0.371 PMM2 Chirag Patel gene: PMM2 was added
gene: PMM2 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, OMIM #212065
Review for gene: PMM2 was set to GREEN
Added comment: Arthrogryposis reported
Sources: Expert list
Arthrogryposis v0.370 LMNA Chirag Patel Classified gene: LMNA as Green List (high evidence)
Arthrogryposis v0.370 LMNA Chirag Patel Gene: lmna has been classified as Green List (High Evidence).
Arthrogryposis v0.369 LMNA Chirag Patel gene: LMNA was added
gene: LMNA was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to PMID:18551513
Phenotypes for gene: LMNA were set to Muscular dystrophy, congenital, OMIM #613205
Review for gene: LMNA was set to GREEN
Added comment: Arthrogryposis reported
Sources: Expert list
Arthrogryposis v0.368 FLVCR2 Chirag Patel Classified gene: FLVCR2 as Green List (high evidence)
Arthrogryposis v0.368 FLVCR2 Chirag Patel Gene: flvcr2 has been classified as Green List (High Evidence).
Arthrogryposis v0.367 FLVCR2 Chirag Patel gene: FLVCR2 was added
gene: FLVCR2 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR2 were set to PMID: 20206334, 20014121, 20014121
Phenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, OMIM #225790
Review for gene: FLVCR2 was set to GREEN
Added comment: Severe arthrogryposis disorder
Sources: Expert list
Arthrogryposis v0.366 BIN1 Chirag Patel Classified gene: BIN1 as Green List (high evidence)
Arthrogryposis v0.366 BIN1 Chirag Patel Gene: bin1 has been classified as Green List (High Evidence).
Arthrogryposis v0.366 BIN1 Chirag Patel Classified gene: BIN1 as Green List (high evidence)
Arthrogryposis v0.366 BIN1 Chirag Patel Gene: bin1 has been classified as Green List (High Evidence).
Arthrogryposis v0.366 BIN1 Chirag Patel Classified gene: BIN1 as Green List (high evidence)
Arthrogryposis v0.366 BIN1 Chirag Patel Gene: bin1 has been classified as Green List (High Evidence).
Arthrogryposis v0.365 BIN1 Chirag Patel gene: BIN1 was added
gene: BIN1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to Centronuclear myopathy 2; OMIM #255200
Review for gene: BIN1 was set to GREEN
Added comment: Arthrogryposis reported
Sources: Expert list
Arthrogryposis v0.364 TMEM5 Chirag Patel Classified gene: TMEM5 as Red List (low evidence)
Arthrogryposis v0.364 TMEM5 Chirag Patel Gene: tmem5 has been classified as Red List (Low Evidence).
Arthrogryposis v0.364 TMEM5 Chirag Patel Classified gene: TMEM5 as Red List (low evidence)
Arthrogryposis v0.364 TMEM5 Chirag Patel Gene: tmem5 has been classified as Red List (Low Evidence).
Arthrogryposis v0.364 TMEM5 Chirag Patel Classified gene: TMEM5 as Red List (low evidence)
Arthrogryposis v0.364 TMEM5 Chirag Patel Gene: tmem5 has been classified as Red List (Low Evidence).
Arthrogryposis v0.363 TMEM5 Chirag Patel reviewed gene: TMEM5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arthrogryposis v0.363 FAM20C Chirag Patel Classified gene: FAM20C as Amber List (moderate evidence)
Arthrogryposis v0.363 FAM20C Chirag Patel Gene: fam20c has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.362 FAM20C Chirag Patel reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arthrogryposis v0.362 DAG1 Chirag Patel Classified gene: DAG1 as Red List (low evidence)
Arthrogryposis v0.362 DAG1 Chirag Patel Gene: dag1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.361 DAG1 Chirag Patel reviewed gene: DAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arthrogryposis v0.361 B4GAT1 Chirag Patel Classified gene: B4GAT1 as Red List (low evidence)
Arthrogryposis v0.361 B4GAT1 Chirag Patel Gene: b4gat1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.360 B4GAT1 Chirag Patel reviewed gene: B4GAT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arthrogryposis v0.360 B3GALNT2 Chirag Patel Classified gene: B3GALNT2 as Red List (low evidence)
Arthrogryposis v0.360 B3GALNT2 Chirag Patel Gene: b3galnt2 has been classified as Red List (Low Evidence).
Arthrogryposis v0.359 B3GALNT2 Chirag Patel reviewed gene: B3GALNT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arthrogryposis v0.359 CAMLG Seb Lunke Marked gene: CAMLG as ready
Arthrogryposis v0.359 CAMLG Seb Lunke Gene: camlg has been classified as Red List (Low Evidence).
Arthrogryposis v0.359 CAMLG Seb Lunke Classified gene: CAMLG as Red List (low evidence)
Arthrogryposis v0.359 CAMLG Seb Lunke Gene: camlg has been classified as Red List (Low Evidence).
Arthrogryposis v0.358 CAMLG Manny Jacobs gene: CAMLG was added
gene: CAMLG was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMLG were set to 35262690
Phenotypes for gene: CAMLG were set to Congenital disorder of glycosylation type IIz, OMIM #: 620201
Penetrance for gene: CAMLG were set to unknown
Review for gene: CAMLG was set to RED
Added comment: PMID: 35262690 (2022)
Report one patient with hom splice variant. No other reported patients.
GDD, seizures, contractures, hypotonia and brain malformations.
Sources: Literature
Arthrogryposis v0.358 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Arthrogryposis v0.357 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Arthrogryposis v0.357 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Arthrogryposis v0.357 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Arthrogryposis v0.357 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Arthrogryposis v0.356 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Arthrogryposis v0.356 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Arthrogryposis v0.355 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Arthrogryposis v0.355 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Arthrogryposis v0.355 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Arthrogryposis v0.355 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Arthrogryposis v0.354 MED11 Ain Roesley Marked gene: MED11 as ready
Arthrogryposis v0.354 MED11 Ain Roesley Gene: med11 has been classified as Red List (Low Evidence).
Arthrogryposis v0.354 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to GREEN
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Arthrogryposis v0.353 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

----

Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Arthrogryposis v0.353 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Arthrogryposis v0.353 Zornitza Stark List of related panels changed from to Flexion contracture; HP:0001371
Arthrogryposis v0.352 ADAMTS15 Zornitza Stark Marked gene: ADAMTS15 as ready
Arthrogryposis v0.352 ADAMTS15 Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence).
Arthrogryposis v0.352 ADAMTS15 Zornitza Stark Classified gene: ADAMTS15 as Green List (high evidence)
Arthrogryposis v0.352 ADAMTS15 Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence).
Arthrogryposis v0.351 MET Zornitza Stark Marked gene: MET as ready
Arthrogryposis v0.351 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.351 MET Zornitza Stark Classified gene: MET as Amber List (moderate evidence)
Arthrogryposis v0.351 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.351 MET Zornitza Stark Classified gene: MET as Amber List (moderate evidence)
Arthrogryposis v0.351 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.350 ADAMTS15 Naomi Baker changed review comment from: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding,
missing teeth, or arched palate) (4/5).
Sources: Literature; to: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding,
missing teeth, or arched palate) (4/5).
Sources: Literature
Arthrogryposis v0.350 ADAMTS15 Naomi Baker gene: ADAMTS15 was added
gene: ADAMTS15 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS15 were set to PMID: 35962790
Phenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related
Review for gene: ADAMTS15 was set to GREEN
Added comment: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding,
missing teeth, or arched palate) (4/5).
Sources: Literature
Arthrogryposis v0.350 MET Lucy Spencer gene: MET was added
gene: MET was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MET were set to 30777867
Phenotypes for gene: MET were set to ?Arthrogryposis, distal, type 11 (MIM#620019), AD
Review for gene: MET was set to AMBER
Added comment: Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad.

Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts.

Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.
Sources: Literature
Arthrogryposis v0.350 Zornitza Stark HPO terms changed from to Flexion contracture, HP:0001371
Arthrogryposis v0.349 NFATC2 Zornitza Stark Marked gene: NFATC2 as ready
Arthrogryposis v0.349 NFATC2 Zornitza Stark Gene: nfatc2 has been classified as Red List (Low Evidence).
Arthrogryposis v0.349 NFATC2 Zornitza Stark Classified gene: NFATC2 as Red List (low evidence)
Arthrogryposis v0.349 NFATC2 Zornitza Stark Gene: nfatc2 has been classified as Red List (Low Evidence).
Arthrogryposis v0.348 NFATC2 Paul De Fazio gene: NFATC2 was added
gene: NFATC2 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFATC2 were set to 35789258
Phenotypes for gene: NFATC2 were set to Skeletal system disorder MONDO:0005172
Review for gene: NFATC2 was set to RED
gene: NFATC2 was marked as current diagnostic
Added comment: Patient born to consanguineous parents homozygous for a frameshift variant. No other (unaffected) members of the family were homozygous. Family history of recurrent childhood deaths.

After a healthy birth the patient developed painless decreased range of motion at 1.5yrs leading to difficulty with ambulation at 3yrs. Formal orthopedic assessment at age 15 years
demonstrated a neurodevelopmentally normal young man with marked bilateral fixed flexion contractures of knees, hips, and ankles. The main musculoskeletal findings were painless contractures of the large and small joints of the upper and lower limbs, osteochondromas, and osteopenia. Patient was diagnosed with B-cell lymphoma at age 18.

Patient CD8+ T-cells show impaired polyfunctionality, and the patient had an accumulation of non-functional memory CD4+ T-cells. TFH cell function was also impaired.
Sources: Literature
Arthrogryposis v0.348 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Arthrogryposis v0.348 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Arthrogryposis v0.348 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from to Lethal congenital contracture syndrome 1, MIM# 253310
Arthrogryposis v0.347 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Arthrogryposis v0.346 GLE1 Zornitza Stark Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.345 MYO9A Zornitza Stark Phenotypes for gene: MYO9A were changed from MYASTHENIC SYNDROME, CONGENITAL, 24 OMIM# 618198 to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
Arthrogryposis v0.344 MYO9A Zornitza Stark Classified gene: MYO9A as Amber List (moderate evidence)
Arthrogryposis v0.344 MYO9A Zornitza Stark Gene: myo9a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.343 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.343 USP14 Zornitza Stark Marked gene: USP14 as ready
Arthrogryposis v0.343 USP14 Zornitza Stark Gene: usp14 has been classified as Red List (Low Evidence).
Arthrogryposis v0.343 USP14 Zornitza Stark Phenotypes for gene: USP14 were changed from Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM # to Syndromic disease MONDO:0002254, USP14-related; Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features
Arthrogryposis v0.342 GLE1 Chirag Patel reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.342 USP14 Chirag Patel gene: USP14 was added
gene: USP14 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP14 were set to PMID: 35066879
Phenotypes for gene: USP14 were set to Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #
Review for gene: USP14 was set to RED
Added comment: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay.
Sources: Literature
Arthrogryposis v0.341 COASY Ain Roesley changed review comment from: 5 more families with arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers.


c.1486-3C>G is the variant identified in all families; to: 5 more families with PCH and arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers.


c.1486-3C>G is the variant identified in all families
Arthrogryposis v0.341 COASY Ain Roesley Publications for gene: COASY were set to 30089828
Arthrogryposis v0.341 COASY Ain Roesley Classified gene: COASY as Green List (high evidence)
Arthrogryposis v0.341 COASY Ain Roesley Gene: coasy has been classified as Green List (High Evidence).
Arthrogryposis v0.340 COASY Ain Roesley changed review comment from: 5 more families. But 1 family did not have the affecteds sequenced, presumed homozygous as parents are carriers.

arthrogryposis reported in 4 families

c.1486-3C>G is the variant identified in all families; to: 5 more families with arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers.


c.1486-3C>G is the variant identified in all families
Arthrogryposis v0.340 COASY Ain Roesley reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 35499143; Phenotypes: Pontocerebellar hypoplasia, type 12 MIM#618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Arthrogryposis v0.340 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, with impaired proprioception and touch (MIM # 617146) to Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Arthrogryposis v0.339 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to 30941898
Arthrogryposis v0.338 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.337 PIEZO2 Zornitza Stark commented on gene: PIEZO2: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.
DA3, more than 10 families reported, R2686H is recurrent.
Arthrogryposis v0.337 PIEZO2 Zornitza Stark reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27653382, 27607563, 27843126, 27974811, 24726473; Phenotypes: Arthrogryposis, distal, type 3 (MIM#114300), Arthrogryposis, distal, type 5 (MIM#108145), Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.337 PRG4 Zornitza Stark Marked gene: PRG4 as ready
Arthrogryposis v0.337 PRG4 Zornitza Stark Gene: prg4 has been classified as Green List (High Evidence).
Arthrogryposis v0.337 PRG4 Zornitza Stark Phenotypes for gene: PRG4 were changed from to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250
Arthrogryposis v0.336 PRG4 Zornitza Stark Publications for gene: PRG4 were set to
Arthrogryposis v0.335 PRG4 Zornitza Stark Mode of inheritance for gene: PRG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.334 PRG4 Zornitza Stark reviewed gene: PRG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545950, 29397575; Phenotypes: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.334 TNNI1 Zornitza Stark Marked gene: TNNI1 as ready
Arthrogryposis v0.334 TNNI1 Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.334 TNNI1 Zornitza Stark Classified gene: TNNI1 as Amber List (moderate evidence)
Arthrogryposis v0.334 TNNI1 Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.333 TNNI1 Zornitza Stark Phenotypes for gene: TNNI1 were changed from arthrogryposis; joint contractures to Arthrogryposis MONDO:0008779, TNNI1-related
Arthrogryposis v0.332 TNNI1 Krithika Murali gene: TNNI1 was added
gene: TNNI1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: TNNI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI1 were set to 34934811
Phenotypes for gene: TNNI1 were set to arthrogryposis; joint contractures
Review for gene: TNNI1 was set to AMBER
Added comment: No OMIM gene disease association reported

PMID 34934811 Nishimori et al report 2 individuals from a Japanese family with joint contractures, elevated CK and a novel heterozygous TNNI1 variant.

The proband was born with clasped thumbs (gestational age not stated) requiring surgical correction at 5 months of age. At age 14 was diagnosed with contractures of the neck, trunk, hip and knee with elevated serum CK (1689 IU/L). No muscle weakness noted. Muscle biopsy showed moth-eaten appearance of type I fibres and electron microscopy showed type 1 fibre Z disk streaming.

Trio exome sequencing identified a paternally heterozygous nonsense TNNI1 variant (c.523A>T p.K175*). The proband's father and paternal grandfather (not genotyped) also have a history of joint contractures with elevated CK.

The affected amino acid residue is in the tropomyosin binding site near the C-terminus and is highly conserved. The variant is absent from gnomAD. rt-PCR products of mRNA from the patient's muscle biopsy showed presence of both mutated and normal transcripts.
Sources: Literature
Arthrogryposis v0.332 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Arthrogryposis v0.332 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Arthrogryposis v0.332 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Arthrogryposis v0.331 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Arthrogryposis v0.330 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
Arthrogryposis v0.329 VIPAS39 Zornitza Stark Mode of inheritance for gene: VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.328 VIPAS39 Zornitza Stark reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753, 35151346; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.328 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Arthrogryposis v0.328 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Arthrogryposis v0.328 KIAA1109 Zornitza Stark Mode of inheritance for gene: KIAA1109 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.327 KIAA1109 Zornitza Stark Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.327 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to
Arthrogryposis v0.326 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome, MIM# 617822
Arthrogryposis v0.325 KIAA1109 Zornitza Stark reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome, MIM# 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.325 NALCN Zornitza Stark Phenotypes for gene: NALCN were changed from to Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266
Arthrogryposis v0.324 NALCN Zornitza Stark Publications for gene: NALCN were set to
Arthrogryposis v0.323 NALCN Zornitza Stark Mode of inheritance for gene: NALCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.322 NALCN Zornitza Stark reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.322 COL25A1 Bryony Thompson Marked gene: COL25A1 as ready
Arthrogryposis v0.322 COL25A1 Bryony Thompson Gene: col25a1 has been classified as Green List (High Evidence).
Arthrogryposis v0.322 COL25A1 Bryony Thompson Classified gene: COL25A1 as Green List (high evidence)
Arthrogryposis v0.322 COL25A1 Bryony Thompson Gene: col25a1 has been classified as Green List (High Evidence).
Arthrogryposis v0.321 COL25A1 Bryony Thompson gene: COL25A1 was added
gene: COL25A1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL25A1 were set to 35077597; 26437029
Phenotypes for gene: COL25A1 were set to arthrogryposis multiplex congenita MONDO:0015168
Review for gene: COL25A1 was set to GREEN
Added comment: 6 cases from 4 unrelated families with AMC as a feature of the phenotype
PMID: 35077597 - 5 patients from 3 unrelated families with biallelic missense and splice site COL25A1 variants presenting with arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder phenotype
PMID: 26437029 - Patient: 273182 in DECIPHER with compound het missense variants. Phenotype includes Congenital finger flexion contractures, Contracture of the distal interphalangeal joint of the 2nd finger, Duane anomaly
Sources: Literature
Arthrogryposis v0.320 KIF26B Zornitza Stark Marked gene: KIF26B as ready
Arthrogryposis v0.320 KIF26B Zornitza Stark Gene: kif26b has been classified as Red List (Low Evidence).
Arthrogryposis v0.320 KIF26B Zornitza Stark gene: KIF26B was added
gene: KIF26B was added to Arthrogryposis. Sources: Expert Review
Mode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF26B were set to 30151950
Phenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis
Review for gene: KIF26B was set to RED
Added comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity.
Sources: Expert Review
Arthrogryposis v0.319 CHRNB1 Zornitza Stark Marked gene: CHRNB1 as ready
Arthrogryposis v0.319 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Arthrogryposis v0.319 CHRNB1 Zornitza Stark Phenotypes for gene: CHRNB1 were changed from to Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Arthrogryposis v0.318 CHRNB1 Zornitza Stark Publications for gene: CHRNB1 were set to
Arthrogryposis v0.317 CHRNB1 Zornitza Stark Mode of inheritance for gene: CHRNB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.316 CHRNB1 Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.316 ANTXR2 Zornitza Stark Marked gene: ANTXR2 as ready
Arthrogryposis v0.316 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Green List (High Evidence).
Arthrogryposis v0.316 ANTXR2 Zornitza Stark Phenotypes for gene: ANTXR2 were changed from to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229
Arthrogryposis v0.315 ANTXR2 Zornitza Stark Publications for gene: ANTXR2 were set to 12973667; 14508707
Arthrogryposis v0.314 ANTXR2 Zornitza Stark Publications for gene: ANTXR2 were set to
Arthrogryposis v0.313 ANTXR2 Zornitza Stark Mode of inheritance for gene: ANTXR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.312 ANTXR2 Zornitza Stark reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.312 SLC6A9 Zornitza Stark Publications for gene: SLC6A9 were set to 27773429; 27481395
Arthrogryposis v0.311 SLC6A9 Zornitza Stark Classified gene: SLC6A9 as Green List (high evidence)
Arthrogryposis v0.311 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Arthrogryposis v0.310 SLC6A9 Zornitza Stark edited their review of gene: SLC6A9: Added comment: Dempsey et al 2020 (PMID: 31875334) report a fetus with persistently raised NT, hyperextended legs, unilateral talipes. Flexed arms. Small stomach. Consanguineous family. Other reports of SLC6A9 causing arthrogryposis multiplex congenita (presenting prenatally) include: Kurolap et al 2016, PMID: 27773429 (2 families); Hauf et al 2020, PMID: 32712301 (1 family); Mademont-Soler et al 2021, PMID: 33269555 (1 family); Changed rating: GREEN; Changed publications: 27773429, 27481395, 31875334, 32712301, 33269555
Arthrogryposis v0.310 CRLF1 Zornitza Stark Marked gene: CRLF1 as ready
Arthrogryposis v0.310 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Green List (High Evidence).
Arthrogryposis v0.310 CRLF1 Zornitza Stark Phenotypes for gene: CRLF1 were changed from to Cold-induced sweating syndrome 1, MIM#272430
Arthrogryposis v0.309 CRLF1 Zornitza Stark Publications for gene: CRLF1 were set to
Arthrogryposis v0.308 CRLF1 Zornitza Stark Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.307 CRLF1 Zornitza Stark reviewed gene: CRLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509788, 17436251, 17436252; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.307 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency
Arthrogryposis v0.306 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, hydrops, arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features, severe respiratory insufficiency
Arthrogryposis v0.306 CHAT Zornitza Stark Marked gene: CHAT as ready
Arthrogryposis v0.306 CHAT Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
Arthrogryposis v0.306 CHAT Zornitza Stark Phenotypes for gene: CHAT were changed from to Myasthenic syndrome, congenital, 6, presynaptic, 254210
Arthrogryposis v0.305 CHAT Zornitza Stark Publications for gene: CHAT were set to
Arthrogryposis v0.304 CHAT Zornitza Stark Mode of inheritance for gene: CHAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.303 CHAT Zornitza Stark reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068, 12756141, 31192527, 29518833, 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.303 ERGIC1 Zornitza Stark Publications for gene: ERGIC1 were set to 28317099, 34037256; 31230720
Arthrogryposis v0.302 ERGIC1 Zornitza Stark Publications for gene: ERGIC1 were set to PMID: 28317099, 34037256
Arthrogryposis v0.301 ERGIC1 Zornitza Stark Classified gene: ERGIC1 as Green List (high evidence)
Arthrogryposis v0.301 ERGIC1 Zornitza Stark Gene: ergic1 has been classified as Green List (High Evidence).
Arthrogryposis v0.300 ERGIC1 Arina Puzriakova reviewed gene: ERGIC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230720; Phenotypes: Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.300 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Arthrogryposis v0.300 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Arthrogryposis v0.300 SLC29A3 Zornitza Stark Classified gene: SLC29A3 as Green List (high evidence)
Arthrogryposis v0.300 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Arthrogryposis v0.299 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Arthrogryposis. Sources: Expert Review
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 18940313; 19336477; 22238637
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Review for gene: SLC29A3 was set to GREEN
Added comment: Joint contractures are a feature.
Sources: Expert Review
Arthrogryposis v0.298 ZC4H2 Zornitza Stark Publications for gene: ZC4H2 were set to 23623388; 31885220
Arthrogryposis v0.297 ZC4H2 Zornitza Stark Mode of inheritance for gene: ZC4H2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v0.296 ZC4H2 Zornitza Stark reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623388, 34322088, 33949289, 31885220, 31206972; Phenotypes: Wieacker-Wolff syndrome, MIM# 314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v0.296 ERGIC1 Zornitza Stark Marked gene: ERGIC1 as ready
Arthrogryposis v0.296 ERGIC1 Zornitza Stark Gene: ergic1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.296 ERGIC1 Chirag Patel Classified gene: ERGIC1 as Amber List (moderate evidence)
Arthrogryposis v0.296 ERGIC1 Chirag Patel Gene: ergic1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.295 ERGIC1 Chirag Patel gene: ERGIC1 was added
gene: ERGIC1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC1 were set to PMID: 28317099, 34037256
Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type; OMIM # 208100
Review for gene: ERGIC1 was set to AMBER
Added comment: Reinstein et al. (2018) used WES in a large consanguineous Israeli Arab kindred consisting of 16 patients affected with the neurogenic type of arthrogryposis multiplex congenita. They identified a homozygous missense (V98E) mutation in ERGIC1 gene, which segregated with the disorder in the kindred, and was not found in the ExAC database or in 212 ethnically matched controls. Functional studies of the variant and studies of patient cells were not performed. ERGIC1 encodes a cycling membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.

Marconi et al (2021) used genome sequencing in a consanguineous family with 2 affected siblings presenting congenital arthrogryposis and some facial dysmorphism. They identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1. mRNA quantification showed the complete absence of ERGIC1 expression in the two affected siblings and a decrease in heterozygous parents.
Sources: Literature
Arthrogryposis v0.294 MAGEL2 Zornitza Stark Publications for gene: MAGEL2 were set to 24076603; 27195816; 26365340
Arthrogryposis v0.293 MAGEL2 Zornitza Stark Mode of inheritance for gene: MAGEL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Arthrogryposis v0.292 MAGEL2 Anna Le Fevre reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26365340, 33820833, 34128869; Phenotypes: Schaaf-Yang syndrome, Chitayat-Hall Syndrome, Arthrogryposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Arthrogryposis v0.292 KIDINS220 Zornitza Stark Phenotypes for gene: KIDINS220 were changed from cerebral ventriculomegaly; limb contractures to Ventriculomegaly and arthrogryposis, MIM# 619501; cerebral ventriculomegaly; limb contractures
Arthrogryposis v0.291 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Changed phenotypes: Ventriculomegaly and arthrogryposis, MIM# 619501, cerebral ventriculomegaly, limb contractures
Arthrogryposis v0.291 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Arthrogryposis v0.291 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Arthrogryposis v0.291 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from to 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
Arthrogryposis v0.290 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Arthrogryposis v0.289 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.288 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179903, 18252226, 28495245, 22482962; 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.288 GLDN Zornitza Stark Marked gene: GLDN as ready
Arthrogryposis v0.288 GLDN Zornitza Stark Gene: gldn has been classified as Green List (High Evidence).
Arthrogryposis v0.288 GLDN Zornitza Stark Phenotypes for gene: GLDN were changed from to Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965
Arthrogryposis v0.287 GLDN Zornitza Stark Publications for gene: GLDN were set to
Arthrogryposis v0.286 GLDN Zornitza Stark Mode of inheritance for gene: GLDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.285 GLDN Zornitza Stark reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616481, 32812332, 28726266; Phenotypes: Lethal congenital contracture syndrome 11, MIM# 617194, MONDO:0014965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.285 ZBTB42 Zornitza Stark Marked gene: ZBTB42 as ready
Arthrogryposis v0.285 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.285 ZBTB42 Zornitza Stark Classified gene: ZBTB42 as Amber List (moderate evidence)
Arthrogryposis v0.285 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.284 ZBTB42 Zornitza Stark gene: ZBTB42 was added
gene: ZBTB42 was added to Arthrogryposis. Sources: Expert Review
Mode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB42 were set to 25055871
Phenotypes for gene: ZBTB42 were set to Lethal congenital contracture syndrome 6, MIM# 616248
Review for gene: ZBTB42 was set to AMBER
Added comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model.
Sources: Expert Review
Arthrogryposis v0.283 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
Arthrogryposis v0.283 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Green List (High Evidence).
Arthrogryposis v0.283 MYBPC1 Zornitza Stark Phenotypes for gene: MYBPC1 were changed from to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915
Arthrogryposis v0.282 MYBPC1 Zornitza Stark Publications for gene: MYBPC1 were set to
Arthrogryposis v0.281 MYBPC1 Zornitza Stark Mode of inheritance for gene: MYBPC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.280 MYBPC1 Zornitza Stark reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20045868, 22610851, 23873045, 26661508, 31264822; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.280 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM # 616287; MONDO:0014570 to Lethal congenital contracture syndrome 8, OMIM # 616287; MONDO:0014570
Arthrogryposis v0.279 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM # 616287 to Lethal congenital contracture syndrome 8, OMIM # 616287; MONDO:0014570
Arthrogryposis v0.278 ADGRG6 Zornitza Stark Phenotypes for gene: ADGRG6 were changed from Lethal congenital contracture syndrome 9; OMIM #616503 to Lethal congenital contracture syndrome 9; OMIM #616503; MONDO:0014670
Arthrogryposis v0.277 ADGRG6 Zornitza Stark changed review comment from: Comment when marking as ready: Gene previously known as GPR126.; to: Comment when marking as ready: Gene previously known as GPR126. Three unrelated families with severe perinatal arthrogryposis.
Arthrogryposis v0.277 ADGRG6 Zornitza Stark edited their review of gene: ADGRG6: Changed rating: GREEN
Arthrogryposis v0.277 ADGRG6 Zornitza Stark edited their review of gene: ADGRG6: Changed phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503, MONDO:0014670
Arthrogryposis v0.277 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Arthrogryposis v0.277 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Arthrogryposis v0.277 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668
Arthrogryposis v0.276 CHRNG Zornitza Stark Publications for gene: CHRNG were set to
Arthrogryposis v0.275 CHRNG Zornitza Stark Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.274 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826520, 16826531, 22167768; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009926, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.274 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Arthrogryposis v0.274 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence).
Arthrogryposis v0.274 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from to Schwartz-Jampel syndrome, type 1, MIM# 255800; MONDO:0009717
Arthrogryposis v0.273 HSPG2 Zornitza Stark Publications for gene: HSPG2 were set to
Arthrogryposis v0.272 HSPG2 Zornitza Stark Mode of inheritance for gene: HSPG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.271 HSPG2 Zornitza Stark reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11101850, 16927315; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, MONDO:0009717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.271 NEB Zornitza Stark Marked gene: NEB as ready
Arthrogryposis v0.271 NEB Zornitza Stark Gene: neb has been classified as Green List (High Evidence).
Arthrogryposis v0.271 NEB Zornitza Stark Phenotypes for gene: NEB were changed from to Arthrogryposis multiplex congenita 6, MIM# 619334
Arthrogryposis v0.270 NEB Zornitza Stark Publications for gene: NEB were set to
Arthrogryposis v0.269 NEB Zornitza Stark Mode of inheritance for gene: NEB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.268 NEB Zornitza Stark reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051637, 22367672, 26578207, 33376055; Phenotypes: Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.268 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Arthrogryposis v0.268 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Arthrogryposis v0.268 SLC5A7 Zornitza Stark Phenotypes for gene: SLC5A7 were changed from to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Arthrogryposis v0.267 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Arthrogryposis v0.266 SLC5A7 Zornitza Stark Mode of inheritance for gene: SLC5A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.265 SLC5A7 Zornitza Stark reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 29189923, 30172469; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.265 UNC50 Zornitza Stark Marked gene: UNC50 as ready
Arthrogryposis v0.265 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.265 UNC50 Zornitza Stark Classified gene: UNC50 as Amber List (moderate evidence)
Arthrogryposis v0.265 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.264 UNC50 Zornitza Stark gene: UNC50 was added
gene: UNC50 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 33820833
Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
Review for gene: UNC50 was set to AMBER
Added comment: UNC50 is currently not associated with any phenotype in OMIM (last edited on 02/01/2018) or Gene2Phenotype. - PMID: 29016857 (2017) - Homozygosity mapping of disease loci combined with WES in a single male from a consanguineous family presenting with lethal AMC revealed a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4). Functional studies in C. elegans showed the variant caused loss of acetylcholine receptor expression in the muscle. - PMID: 33820833 (2021) - Single individual reported with the same homozygous c.750_751del:p.Cys251Phefs*4 variant in UNC50 as previously described. The case was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and tetra ventricular dilation were detected prenatally.

Unclear if these are two separate cases or the same case reported twice or ?founder variant.
Sources: Literature
Arthrogryposis v0.263 ADCY6 Zornitza Stark Publications for gene: ADCY6 were set to PMID: 24319099, 26257172, 31846058
Arthrogryposis v0.262 ADCY6 Arina Puzriakova reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33820833; Phenotypes: Lethal congenital contracture syndrome 8, OMIM:616287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.262 FBN2 Zornitza Stark Publications for gene: FBN2 were set to
Arthrogryposis v0.261 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.260 FBN2 Elena Savva reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050, Macular degeneration, early-onset MIM#616118; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Arthrogryposis v0.260 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210 to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143
Arthrogryposis v0.259 ZMPSTE24 Zornitza Stark edited their review of gene: ZMPSTE24: Changed phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074, Restrictive dermopathy, lethal, MIM# 275210, MONDO:0010143
Arthrogryposis v0.259 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Arthrogryposis v0.259 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Arthrogryposis v0.259 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210
Arthrogryposis v0.258 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Arthrogryposis v0.257 ZMPSTE24 Zornitza Stark Mode of inheritance for gene: ZMPSTE24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.256 ZMPSTE24 Zornitza Stark reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998, 27409638, 15937076, 16671095, 22718200, 29794150, 24169522; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074, Restrictive dermopathy, lethal, MIM# 275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.256 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 28934391
Arthrogryposis v0.255 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Green List (high evidence)
Arthrogryposis v0.255 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Arthrogryposis v0.254 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Added comment: Third family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676.; Changed rating: GREEN; Changed publications: 33205811, 28934391, 28934391, 32909676
Arthrogryposis v0.254 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Arthrogryposis v0.254 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.254 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Amber List (moderate evidence)
Arthrogryposis v0.254 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.253 KIDINS220 Zornitza Stark gene: KIDINS220 was added
gene: KIDINS220 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were set to 33205811; 28934391; 28934391
Phenotypes for gene: KIDINS220 were set to cerebral ventriculomegaly; limb contractures
Review for gene: KIDINS220 was set to AMBER
Added comment: 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.

Note mono-allelic variants are associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296.
Sources: Literature
Arthrogryposis v0.252 HS2ST1 Zornitza Stark Marked gene: HS2ST1 as ready
Arthrogryposis v0.252 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.252 HS2ST1 Zornitza Stark Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis
Arthrogryposis v0.251 HS2ST1 Zornitza Stark edited their review of gene: HS2ST1: Changed phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194, Intellectual disability, dysmorphic features, congenital anomalies, arthrogryposis
Arthrogryposis v0.251 SCARF2 Zornitza Stark Marked gene: SCARF2 as ready
Arthrogryposis v0.251 SCARF2 Zornitza Stark Gene: scarf2 has been classified as Green List (High Evidence).
Arthrogryposis v0.251 SCARF2 Zornitza Stark Phenotypes for gene: SCARF2 were changed from to Van den Ende-Gupta syndrome, MIM# 600920
Arthrogryposis v0.250 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Arthrogryposis v0.249 SCARF2 Zornitza Stark Mode of inheritance for gene: SCARF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.248 SCARF2 Zornitza Stark reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20887961, 23808541, 24478002, 27375131, 24478002; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.248 POR Zornitza Stark Marked gene: POR as ready
Arthrogryposis v0.248 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Arthrogryposis v0.248 POR Zornitza Stark Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750
Arthrogryposis v0.247 POR Zornitza Stark Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.246 POR Zornitza Stark reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.246 HS2ST1 Zornitza Stark Classified gene: HS2ST1 as Amber List (moderate evidence)
Arthrogryposis v0.246 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.245 HS2ST1 Zornitza Stark gene: HS2ST1 was added
gene: HS2ST1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis
Review for gene: HS2ST1 was set to AMBER
Added comment: 4 affected individuals from three unrelated families. Three of the individuals (two families) had arthrogryposis.
Sources: Literature
Arthrogryposis v0.244 MYLPF Zornitza Stark Phenotypes for gene: MYLPF were changed from Distal arthrogryoposis to Distal arthrogryposis type 1C (DA1C), MIM#619110
Arthrogryposis v0.243 MYLPF Zornitza Stark edited their review of gene: MYLPF: Changed rating: AMBER; Changed phenotypes: Distal arthrogryposis type 1C (DA1C), MIM#619110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.243 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, MIM# 161200 to Nail-patella syndrome, MIM# 161200, MONDO:0008061
Arthrogryposis v0.242 LMX1B Zornitza Stark edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome, MIM# 161200, MONDO:0008061
Arthrogryposis v0.242 LMX1B Zornitza Stark changed review comment from: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy). >300 families reported.; to: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. >300 families reported.
Arthrogryposis v0.242 LMX1B Zornitza Stark edited their review of gene: LMX1B: Added comment: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy). >300 families reported.; Changed phenotypes: Nail-patella syndrome, MIM# 161200
Arthrogryposis v0.242 MYMK Zornitza Stark Tag founder tag was added to gene: MYMK.
Arthrogryposis v0.242 MYMK Zornitza Stark changed review comment from: Distal contractures are part of the phenotype of this muscle disorder.
Sources: Expert list; to: Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. Intellect has been normal in molecularly confirmed cases. Defect in myoblast fusion. 6 unrelated families reported with CFZ phenotype and bi-allelic MYMK variants. p.Pro91Thr is a common founder variant, which is hypomorphic.

Distal contractures are part of the phenotype of this muscle disorder.
Sources: Expert list
Arthrogryposis v0.242 ECEL1 Zornitza Stark Marked gene: ECEL1 as ready
Arthrogryposis v0.242 ECEL1 Zornitza Stark Gene: ecel1 has been classified as Green List (High Evidence).
Arthrogryposis v0.242 ECEL1 Zornitza Stark Phenotypes for gene: ECEL1 were changed from to Arthrogryposis, distal, type 5D, MIM# 615065
Arthrogryposis v0.241 ECEL1 Zornitza Stark Publications for gene: ECEL1 were set to
Arthrogryposis v0.240 ECEL1 Zornitza Stark Mode of inheritance for gene: ECEL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.239 ECEL1 Zornitza Stark reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261301, 23236030, 25099528, 24782201; Phenotypes: Arthrogryposis, distal, type 5D, MIM# 615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.239 COG8 Zornitza Stark Marked gene: COG8 as ready
Arthrogryposis v0.239 COG8 Zornitza Stark Gene: cog8 has been classified as Red List (Low Evidence).
Arthrogryposis v0.239 COG8 Zornitza Stark Classified gene: COG8 as Red List (low evidence)
Arthrogryposis v0.239 COG8 Zornitza Stark Gene: cog8 has been classified as Red List (Low Evidence).
Arthrogryposis v0.238 COG8 Elena Savva gene: COG8 was added
gene: COG8 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG8 were set to PMID: 30690882
Phenotypes for gene: COG8 were set to Congenital disorder of glycosylation, type IIh 611182
Review for gene: COG8 was set to RED
Added comment: PMID: 30690882: single patient with a homozygous splice COG8 variant, sibling was similarly affected but no DNA available. Patient displayed antenatal phenotype arthrogryposis multiplex congenita, Dandy Walker malformation and ventriculomegaly.
Sources: Literature
Arthrogryposis v0.238 TNNT1 Zornitza Stark Marked gene: TNNT1 as ready
Arthrogryposis v0.238 TNNT1 Zornitza Stark Gene: tnnt1 has been classified as Green List (High Evidence).
Arthrogryposis v0.238 TNNT1 Zornitza Stark Phenotypes for gene: TNNT1 were changed from to Nemaline myopathy 5, Amish type, MIM# 605355
Arthrogryposis v0.237 TNNT1 Zornitza Stark Publications for gene: TNNT1 were set to
Arthrogryposis v0.236 TNNT1 Zornitza Stark Mode of inheritance for gene: TNNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.235 TNNT1 Zornitza Stark reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10952871, 32994279, 32819427, 31970803, 31604653, 29931346, 31680123; Phenotypes: Nemaline myopathy 5, Amish type, MIM# 605355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.235 TNNT3 Zornitza Stark Marked gene: TNNT3 as ready
Arthrogryposis v0.235 TNNT3 Zornitza Stark Gene: tnnt3 has been classified as Green List (High Evidence).
Arthrogryposis v0.235 TNNT3 Zornitza Stark Phenotypes for gene: TNNT3 were changed from to Arthrogryposis, distal, type 2B2, MIM# 618435
Arthrogryposis v0.234 TNNT3 Zornitza Stark Publications for gene: TNNT3 were set to
Arthrogryposis v0.233 TNNT3 Zornitza Stark Mode of pathogenicity for gene: TNNT3 was changed from to Other
Arthrogryposis v0.232 TNNT3 Zornitza Stark Mode of inheritance for gene: TNNT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.231 TNNT3 Zornitza Stark reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12865991, 19142688, 21402185, 25337069, 17194691; Phenotypes: Arthrogryposis, distal, type 2B2, MIM# 618435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.231 LMOD3 Zornitza Stark Marked gene: LMOD3 as ready
Arthrogryposis v0.231 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Green List (High Evidence).
Arthrogryposis v0.231 LMOD3 Zornitza Stark Phenotypes for gene: LMOD3 were changed from to Nemaline myopathy 10, MIM# 616165
Arthrogryposis v0.230 LMOD3 Zornitza Stark Publications for gene: LMOD3 were set to
Arthrogryposis v0.229 LMOD3 Zornitza Stark Mode of inheritance for gene: LMOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.228 LMOD3 Zornitza Stark reviewed gene: LMOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29331079, 25250574, 30291184, 28815944, 30642739; Phenotypes: Nemaline myopathy 10, MIM# 616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.228 MYH2 Zornitza Stark Marked gene: MYH2 as ready
Arthrogryposis v0.228 MYH2 Zornitza Stark Gene: myh2 has been classified as Green List (High Evidence).
Arthrogryposis v0.228 MYH2 Zornitza Stark Phenotypes for gene: MYH2 were changed from to Proximal myopathy and ophthalmoplegia, MIM# 605637
Arthrogryposis v0.227 MYH2 Zornitza Stark Publications for gene: MYH2 were set to
Arthrogryposis v0.226 MYH2 Zornitza Stark Mode of inheritance for gene: MYH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.225 MYH2 Zornitza Stark reviewed gene: MYH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20418530, 15548556, 24193343, 11114175, 23489661, 32578970, 29934118, 28729039, 27490141, 27177998, 17434305; Phenotypes: Proximal myopathy and ophthalmoplegia, MIM# 605637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.225 KLHL41 Zornitza Stark Marked gene: KLHL41 as ready
Arthrogryposis v0.225 KLHL41 Zornitza Stark Gene: klhl41 has been classified as Green List (High Evidence).
Arthrogryposis v0.225 KLHL41 Zornitza Stark Phenotypes for gene: KLHL41 were changed from to Nemaline myopathy 9, MIM# 615731
Arthrogryposis v0.224 KLHL41 Zornitza Stark Publications for gene: KLHL41 were set to
Arthrogryposis v0.223 KLHL41 Zornitza Stark Mode of inheritance for gene: KLHL41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.222 KLHL41 Zornitza Stark reviewed gene: KLHL41: Rating: GREEN; Mode of pathogenicity: None; Publications: 24268659, 30986853, 28939701, 28826497; Phenotypes: Nemaline myopathy 9, MIM# 615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.222 KLHL40 Zornitza Stark Tag founder tag was added to gene: KLHL40.
Arthrogryposis v0.222 KLHL40 Zornitza Stark Marked gene: KLHL40 as ready
Arthrogryposis v0.222 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Green List (High Evidence).
Arthrogryposis v0.222 KLHL40 Zornitza Stark Phenotypes for gene: KLHL40 were changed from to Nemaline myopathy 8, autosomal recessive, MIM# 615348
Arthrogryposis v0.221 KLHL40 Zornitza Stark Publications for gene: KLHL40 were set to
Arthrogryposis v0.220 KLHL40 Zornitza Stark Mode of inheritance for gene: KLHL40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.219 KLHL40 Zornitza Stark reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746549, 24960163, 32352246, 31908664, 27528495; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.219 NEK9 Zornitza Stark Marked gene: NEK9 as ready
Arthrogryposis v0.219 NEK9 Zornitza Stark Gene: nek9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.219 NEK9 Zornitza Stark Classified gene: NEK9 as Amber List (moderate evidence)
Arthrogryposis v0.219 NEK9 Zornitza Stark Gene: nek9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.218 NEK9 Zornitza Stark gene: NEK9 was added
gene: NEK9 was added to Arthrogryposis. Sources: Expert Review
Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK9 were set to 26908619; 21271645
Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM# 617022; Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262
Review for gene: NEK9 was set to AMBER
Added comment: PMID 26908619: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data.

PMID 21271645: Another Saudi family described with which 2 sisters and a female cousin who had a similar disorder characterised by arthrogryposis apparent since early childhood, avascular necrosis of the hip (Perthes disease), and upward gaze palsy. Homozygous missense variant segregated with the phenotype. Given the small number of reports, it is unclear whether this represents a distinct association is part of a spectrum with includes the more severe phenotype described in the Irish traveller families.
Sources: Expert Review
Arthrogryposis v0.217 SCN1A Zornitza Stark edited their review of gene: SCN1A: Changed phenotypes: Dravet syndrome, MIM# 607208, Arthrogryposis multiplex congenita
Arthrogryposis v0.217 SCN1A Zornitza Stark edited their review of gene: SCN1A: Changed phenotypes: Dravet syndrome, MIM# 607208
Arthrogryposis v0.217 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita; Dravet syndrome, MIM# 607208
Arthrogryposis v0.216 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Arthrogryposis v0.216 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Arthrogryposis v0.216 SCN1A Zornitza Stark Classified gene: SCN1A as Green List (high evidence)
Arthrogryposis v0.216 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Arthrogryposis v0.215 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1A were set to 32928894; 29543227
Phenotypes for gene: SCN1A were set to Arthrogryposis multiplex congenita
Review for gene: SCN1A was set to GREEN
Added comment: Note SCN1A is a well-established cause of Dravet syndrome, MIM# 607208
-----
PMID: 32928894 (2020) - De novo missense variants in SCN1A (p.Leu893Phe, p.Ala989Thr, p.Ile236Thr) were identified in three unrelated patients with AMC which was diagnosed from the second trimester of pregnancy. One patient developed intractable epilepsy from birth and died at 21 days, while the other two pregnancies were terminated.

Note we have reported this association previously in PMID 29543227 (Supplementary info) in an infant presenting with AMC and severe EE, and de novo p.(Ile1347Asn) variant which at the time was thought to only partially explain the phenotype, but in light of this new report, likely fully explains the phenotype. Given the presence of severe seizure disorder in the two infants who were phenotype in the newborn period, this likely represents the severe end of the spectrum of SCN1A-related disorders rather than a distinct association.
Sources: Literature
Arthrogryposis v0.214 UBA1 Zornitza Stark Marked gene: UBA1 as ready
Arthrogryposis v0.214 UBA1 Zornitza Stark Gene: uba1 has been classified as Green List (High Evidence).
Arthrogryposis v0.214 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830
Arthrogryposis v0.213 UBA1 Zornitza Stark Publications for gene: UBA1 were set to
Arthrogryposis v0.212 UBA1 Zornitza Stark Mode of inheritance for gene: UBA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.211 UBA1 Zornitza Stark reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.211 TNNI2 Zornitza Stark Marked gene: TNNI2 as ready
Arthrogryposis v0.211 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Green List (High Evidence).
Arthrogryposis v0.211 TNNI2 Zornitza Stark Phenotypes for gene: TNNI2 were changed from to Arthrogryposis, distal, type 2B1, MIM# 601680
Arthrogryposis v0.210 TNNI2 Zornitza Stark Publications for gene: TNNI2 were set to
Arthrogryposis v0.209 TNNI2 Zornitza Stark Mode of pathogenicity for gene: TNNI2 was changed from to Other
Arthrogryposis v0.208 TNNI2 Zornitza Stark Mode of inheritance for gene: TNNI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.207 TNNI2 Zornitza Stark reviewed gene: TNNI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17194691, 25340332, 12592607; Phenotypes: Arthrogryposis, distal, type 2B1, MIM# 601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.207 TBCD Zornitza Stark Tag umccr was removed from gene: TBCD.
Arthrogryposis v0.207 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Arthrogryposis v0.207 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Arthrogryposis v0.207 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Arthrogryposis v0.206 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Arthrogryposis v0.205 LAMA2 Zornitza Stark Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.204 LAMA2 Zornitza Stark reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.204 MYO9A Alison Yeung Marked gene: MYO9A as ready
Arthrogryposis v0.204 MYO9A Alison Yeung Gene: myo9a has been classified as Green List (High Evidence).
Arthrogryposis v0.204 MYO9A Alison Yeung Classified gene: MYO9A as Green List (high evidence)
Arthrogryposis v0.204 MYO9A Alison Yeung Gene: myo9a has been classified as Green List (High Evidence).
Arthrogryposis v0.203 MYO9A Alison Yeung gene: MYO9A was added
gene: MYO9A was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO9A were set to 26752647; 27259756
Phenotypes for gene: MYO9A were set to MYASTHENIC SYNDROME, CONGENITAL, 24 OMIM# 618198
Review for gene: MYO9A was set to GREEN
Added comment: Sources: Literature
Arthrogryposis v0.202 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Arthrogryposis v0.201 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Arthrogryposis v0.200 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.199 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported, arthrogryposis not a prominent feature.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.199 MYLPF Zornitza Stark Marked gene: MYLPF as ready
Arthrogryposis v0.199 MYLPF Zornitza Stark Added comment: Comment when marking as ready: Two variants each for bi-allelic and mono-allelic gene-disease association.
Arthrogryposis v0.199 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.199 MYLPF Zornitza Stark Classified gene: MYLPF as Amber List (moderate evidence)
Arthrogryposis v0.199 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.198 MYLPF Zornitza Stark Classified gene: MYLPF as Green List (high evidence)
Arthrogryposis v0.198 MYLPF Zornitza Stark Gene: mylpf has been classified as Green List (High Evidence).
Arthrogryposis v0.197 MYLPF Crystle Lee gene: MYLPF was added
gene: MYLPF was added to Arthrogryposis. Sources: Expert Review
Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLPF were set to 32707087
Phenotypes for gene: MYLPF were set to Distal arthrogryoposis
Review for gene: MYLPF was set to GREEN
Added comment: 2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model.
Sources: Expert Review
Arthrogryposis v0.197 TOR1A Zornitza Stark Phenotypes for gene: TOR1A were changed from Arthrogryposis to Arthrogryposis multiplex congenita, MIM#618947
Arthrogryposis v0.196 TOR1A Zornitza Stark reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, MIM#618947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.195 MED12 Zornitza Stark Marked gene: MED12 as ready
Arthrogryposis v0.195 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Arthrogryposis v0.195 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to MED12-related disorders
Arthrogryposis v0.194 MED12 Zornitza Stark Publications for gene: MED12 were set to
Arthrogryposis v0.193 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.192 TRIP4 Zornitza Stark Marked gene: TRIP4 as ready
Arthrogryposis v0.192 TRIP4 Zornitza Stark Gene: trip4 has been classified as Green List (High Evidence).
Arthrogryposis v0.192 TRIP4 Zornitza Stark Phenotypes for gene: TRIP4 were changed from to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Arthrogryposis v0.191 TRIP4 Zornitza Stark Publications for gene: TRIP4 were set to
Arthrogryposis v0.190 TRIP4 Zornitza Stark Mode of inheritance for gene: TRIP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.189 RIPK4 Zornitza Stark Marked gene: RIPK4 as ready
Arthrogryposis v0.189 RIPK4 Zornitza Stark Gene: ripk4 has been classified as Green List (High Evidence).
Arthrogryposis v0.189 RIPK4 Zornitza Stark Phenotypes for gene: RIPK4 were changed from to Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650
Arthrogryposis v0.188 RIPK4 Zornitza Stark Publications for gene: RIPK4 were set to
Arthrogryposis v0.187 RIPK4 Zornitza Stark Mode of inheritance for gene: RIPK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.186 RIPK4 Zornitza Stark reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940926, 22197489, 22197488; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.186 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Arthrogryposis v0.186 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Arthrogryposis v0.186 ZIC3 Zornitza Stark Phenotypes for gene: ZIC3 were changed from to Heterotaxy, visceral, 1, X-linked, MIM# 306955; VACTERL association, X-linked, MIM# 314390
Arthrogryposis v0.185 ZIC3 Zornitza Stark Mode of inheritance for gene: ZIC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.184 ZIC3 Zornitza Stark Classified gene: ZIC3 as Red List (low evidence)
Arthrogryposis v0.184 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Arthrogryposis v0.183 ZIC3 Zornitza Stark reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 1, X-linked, MIM# 306955, VACTERL association, X-linked, MIM# 314390; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.183 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Arthrogryposis v0.183 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Arthrogryposis v0.183 VAMP1 Zornitza Stark Classified gene: VAMP1 as Green List (high evidence)
Arthrogryposis v0.183 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Arthrogryposis v0.182 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAMP1 were set to 28253535
Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM# 618323
Review for gene: VAMP1 was set to GREEN
Added comment: Severe neonatal hypotonia and joint laxity, though joint contractures described in some affected individuals.
Sources: Expert list
Arthrogryposis v0.181 UNC80 Zornitza Stark Marked gene: UNC80 as ready
Arthrogryposis v0.181 UNC80 Zornitza Stark Gene: unc80 has been classified as Red List (Low Evidence).
Arthrogryposis v0.181 UNC80 Zornitza Stark Phenotypes for gene: UNC80 were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801
Arthrogryposis v0.180 UNC80 Zornitza Stark Publications for gene: UNC80 were set to
Arthrogryposis v0.179 UNC80 Zornitza Stark Mode of inheritance for gene: UNC80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.178 UNC80 Zornitza Stark Classified gene: UNC80 as Red List (low evidence)
Arthrogryposis v0.178 UNC80 Zornitza Stark Gene: unc80 has been classified as Red List (Low Evidence).
Arthrogryposis v0.177 UNC80 Zornitza Stark reviewed gene: UNC80: Rating: RED; Mode of pathogenicity: None; Publications: 26545877, 26708753, 26708751; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.177 TTN Zornitza Stark Marked gene: TTN as ready
Arthrogryposis v0.177 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Arthrogryposis v0.177 TTN Zornitza Stark Classified gene: TTN as Green List (high evidence)
Arthrogryposis v0.177 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Arthrogryposis v0.176 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 24105469; 31660661; 29575618; 28040389
Phenotypes for gene: TTN were set to Salih myopathy; Muscular dystrophy, limb-girdle, autosomal recessive 10
Review for gene: TTN was set to GREEN
Added comment: By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures.
Bryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant.
Two families with AMC and biallelic truncating mutations in 29575618; 28040389.
Sources: Expert list
Arthrogryposis v0.175 TRIP4 Zornitza Stark reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.175 TBX22 Zornitza Stark Marked gene: TBX22 as ready
Arthrogryposis v0.175 TBX22 Zornitza Stark Gene: tbx22 has been classified as Red List (Low Evidence).
Arthrogryposis v0.175 TBX22 Zornitza Stark Phenotypes for gene: TBX22 were changed from to Cleft palate with ankyloglossia, MIM# 303400
Arthrogryposis v0.174 TBX22 Zornitza Stark Classified gene: TBX22 as Red List (low evidence)
Arthrogryposis v0.174 TBX22 Zornitza Stark Gene: tbx22 has been classified as Red List (Low Evidence).
Arthrogryposis v0.173 TBX22 Zornitza Stark reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleft palate with ankyloglossia, MIM# 303400; Mode of inheritance: None
Arthrogryposis v0.173 STAC3 Zornitza Stark Marked gene: STAC3 as ready
Arthrogryposis v0.173 STAC3 Zornitza Stark Gene: stac3 has been classified as Green List (High Evidence).
Arthrogryposis v0.173 STAC3 Zornitza Stark Classified gene: STAC3 as Green List (high evidence)
Arthrogryposis v0.173 STAC3 Zornitza Stark Gene: stac3 has been classified as Green List (High Evidence).
Arthrogryposis v0.172 STAC3 Zornitza Stark gene: STAC3 was added
gene: STAC3 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to 23736855; 30168660; 28777491
Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch, MIM# 255995
Review for gene: STAC3 was set to GREEN
Added comment: Arthrogryposis is part of the phenotype.
Sources: Expert list
Arthrogryposis v0.171 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Arthrogryposis v0.171 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Arthrogryposis v0.171 SMN1 Zornitza Stark Classified gene: SMN1 as Green List (high evidence)
Arthrogryposis v0.171 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Arthrogryposis v0.170 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy, type 0
Review for gene: SMN1 was set to GREEN
Added comment: Most severe end of the spectrum can present with arthrogryposis.
Sources: Expert list
Arthrogryposis v0.169 SLC9A6 Zornitza Stark Deleted their comment
Arthrogryposis v0.169 SLC9A6 Zornitza Stark commented on gene: SLC9A6: Contractures are reported but condition does not
Arthrogryposis v0.169 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Arthrogryposis v0.169 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.169 SLC9A6 Zornitza Stark Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
Arthrogryposis v0.168 SLC9A6 Zornitza Stark Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.167 SLC9A6 Zornitza Stark Classified gene: SLC9A6 as Amber List (moderate evidence)
Arthrogryposis v0.167 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.166 SLC9A6 Zornitza Stark reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Marked gene: SLC6A9 as ready
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Classified gene: SLC6A9 as Amber List (moderate evidence)
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Classified gene: SLC6A9 as Green List (high evidence)
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Arthrogryposis v0.165 SLC6A9 Zornitza Stark gene: SLC6A9 was added
gene: SLC6A9 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A9 were set to 27773429; 27481395
Phenotypes for gene: SLC6A9 were set to Glycine encephalopathy with normal serum glycine, MIM#617301; arthrogryposis
Review for gene: SLC6A9 was set to AMBER
Added comment: Two of the reported families have had arthrogryposis as a manifesting feature.
Sources: Expert list
Arthrogryposis v0.164 SLC18A3 Zornitza Stark Marked gene: SLC18A3 as ready
Arthrogryposis v0.164 SLC18A3 Zornitza Stark Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.164 SLC18A3 Zornitza Stark Classified gene: SLC18A3 as Amber List (moderate evidence)
Arthrogryposis v0.164 SLC18A3 Zornitza Stark Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.163 SLC18A3 Zornitza Stark gene: SLC18A3 was added
gene: SLC18A3 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis
Review for gene: SLC18A3 was set to AMBER
Added comment: Two of four families presented with fetal akinesia and arthrogryposis.
Sources: Expert list
Arthrogryposis v0.162 RBM10 Zornitza Stark Marked gene: RBM10 as ready
Arthrogryposis v0.162 RBM10 Zornitza Stark Gene: rbm10 has been classified as Red List (Low Evidence).
Arthrogryposis v0.162 RBM10 Zornitza Stark Phenotypes for gene: RBM10 were changed from to TARP syndrome, MIM# 311900
Arthrogryposis v0.161 RBM10 Zornitza Stark Mode of inheritance for gene: RBM10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.160 RBM10 Zornitza Stark Classified gene: RBM10 as Red List (low evidence)
Arthrogryposis v0.160 RBM10 Zornitza Stark Gene: rbm10 has been classified as Red List (Low Evidence).
Arthrogryposis v0.159 RBM10 Zornitza Stark reviewed gene: RBM10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: TARP syndrome, MIM# 311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.159 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Arthrogryposis v0.159 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.159 PIP5K1C Zornitza Stark Phenotypes for gene: PIP5K1C were changed from to Lethal congenital contractural syndrome 3, MIM# 611369
Arthrogryposis v0.158 PIP5K1C Zornitza Stark Publications for gene: PIP5K1C were set to
Arthrogryposis v0.157 PIP5K1C Zornitza Stark Mode of inheritance for gene: PIP5K1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.156 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Amber List (moderate evidence)
Arthrogryposis v0.156 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.155 PIP5K1C Zornitza Stark reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701898; Phenotypes: Lethal congenital contractural syndrome 3, MIM# 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.155 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Arthrogryposis v0.155 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.155 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Arthrogryposis v0.154 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Arthrogryposis v0.153 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v0.152 OFD1 Zornitza Stark Classified gene: OFD1 as Red List (low evidence)
Arthrogryposis v0.152 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.151 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: 20301367; Phenotypes: Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v0.151 MYMK Zornitza Stark Marked gene: MYMK as ready
Arthrogryposis v0.151 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Arthrogryposis v0.151 MYMK Zornitza Stark Classified gene: MYMK as Green List (high evidence)
Arthrogryposis v0.151 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Arthrogryposis v0.150 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMK were set to 28681861
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome 254940
Review for gene: MYMK was set to GREEN
Added comment: Distal contractures are part of the phenotype of this muscle disorder.
Sources: Expert list
Arthrogryposis v0.149 MYL1 Zornitza Stark Marked gene: MYL1 as ready
Arthrogryposis v0.149 MYL1 Zornitza Stark Gene: myl1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.149 MYL1 Zornitza Stark gene: MYL1 was added
gene: MYL1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to 30215711
Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414
Review for gene: MYL1 was set to RED
Added comment: Two families and a zebrafish model. Predominant finding is that of hypotonia, mild contractures reported in one.
Sources: Expert list
Arthrogryposis v0.148 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301719; Phenotypes: MED12-related disorders; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.148 MAGEL2 Zornitza Stark Marked gene: MAGEL2 as ready
Arthrogryposis v0.148 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Arthrogryposis v0.148 MAGEL2 Zornitza Stark Classified gene: MAGEL2 as Green List (high evidence)
Arthrogryposis v0.148 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Arthrogryposis v0.147 MAGEL2 Zornitza Stark gene: MAGEL2 was added
gene: MAGEL2 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAGEL2 were set to 24076603; 27195816; 26365340
Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome
Review for gene: MAGEL2 was set to GREEN
Added comment: Fountain et al. (2017) reported 18 patients with SHFYNG ascertained on the basis of genetic studies from several different research groups or laboratories. Joint contractures were present in almost all patients, and ranged from only the interphalangeal joints to lethal fetal akinesia with severe arthrogryposis.
Mejlachowicz et al (2015) reported two unrelated families with lethal AMC and heterozygous truncating frameshift MAGEL2 mutations on paternal allele.
Sources: Expert list
Arthrogryposis v0.146 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Arthrogryposis v0.146 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Arthrogryposis v0.146 LMX1B Zornitza Stark Classified gene: LMX1B as Green List (high evidence)
Arthrogryposis v0.146 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Arthrogryposis v0.145 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail-patella syndrome, MIM# 161200
Review for gene: LMX1B was set to GREEN
Added comment: Elbow and knee contractures are common features.
Sources: Expert list
Arthrogryposis v0.144 L1CAM Zornitza Stark Marked gene: L1CAM as ready
Arthrogryposis v0.144 L1CAM Zornitza Stark Gene: l1cam has been classified as Red List (Low Evidence).
Arthrogryposis v0.144 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from to Hydrocephalus due to aqueductal stenosis 307000
Arthrogryposis v0.143 L1CAM Zornitza Stark Publications for gene: L1CAM were set to
Arthrogryposis v0.142 L1CAM Zornitza Stark Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.141 L1CAM Zornitza Stark Classified gene: L1CAM as Red List (low evidence)
Arthrogryposis v0.141 L1CAM Zornitza Stark Gene: l1cam has been classified as Red List (Low Evidence).
Arthrogryposis v0.140 L1CAM Zornitza Stark reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: None; Publications: 31504653; Phenotypes: Hydrocephalus due to aqueductal stenosis 307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.140 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Arthrogryposis v0.140 GPC3 Zornitza Stark Gene: gpc3 has been classified as Red List (Low Evidence).
Arthrogryposis v0.140 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Arthrogryposis v0.139 GPC3 Zornitza Stark Publications for gene: GPC3 were set to
Arthrogryposis v0.138 GPC3 Zornitza Stark Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.137 GPC3 Zornitza Stark Classified gene: GPC3 as Red List (low evidence)
Arthrogryposis v0.137 GPC3 Zornitza Stark Gene: gpc3 has been classified as Red List (Low Evidence).
Arthrogryposis v0.136 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: RED; Mode of pathogenicity: None; Publications: 20301398; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.136 FLNA Zornitza Stark Marked gene: FLNA as ready
Arthrogryposis v0.136 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Arthrogryposis v0.136 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to FLNA-related disorders; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244
Arthrogryposis v0.135 FLNA Zornitza Stark Publications for gene: FLNA were set to
Arthrogryposis v0.134 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v0.134 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.133 FLNA Zornitza Stark reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 26804200, 30561107, 20301567; Phenotypes: FLNA-related disorders, Otopalatodigital syndrome, type I 311300, Otopalatodigital syndrome, type II 304120, Terminal osseous dysplasia 300244; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v0.132 FHL1 Zornitza Stark Marked gene: FHL1 as ready
Arthrogryposis v0.132 FHL1 Zornitza Stark Gene: fhl1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.132 FHL1 Zornitza Stark Phenotypes for gene: FHL1 were changed from to 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
Arthrogryposis v0.131 FHL1 Zornitza Stark Mode of inheritance for gene: FHL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.130 FHL1 Zornitza Stark Classified gene: FHL1 as Red List (low evidence)
Arthrogryposis v0.130 FHL1 Zornitza Stark Gene: fhl1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.129 FHL1 Zornitza Stark reviewed gene: FHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; 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; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.129 FGD1 Zornitza Stark Marked gene: FGD1 as ready
Arthrogryposis v0.129 FGD1 Zornitza Stark Gene: fgd1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.129 FGD1 Zornitza Stark Phenotypes for gene: FGD1 were changed from to Aarskog-Scott syndrome, MIM# 305400; Mental retardation, X-linked syndromic 16, MIM# 305400
Arthrogryposis v0.128 FGD1 Zornitza Stark Publications for gene: FGD1 were set to
Arthrogryposis v0.127 FGD1 Zornitza Stark Mode of inheritance for gene: FGD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.126 FGD1 Zornitza Stark Classified gene: FGD1 as Red List (low evidence)
Arthrogryposis v0.126 FGD1 Zornitza Stark Gene: fgd1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.125 FGD1 Zornitza Stark reviewed gene: FGD1: Rating: RED; Mode of pathogenicity: None; Publications: 27551683; Phenotypes: Aarskog-Scott syndrome, MIM# 305400, Mental retardation, X-linked syndromic 16 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.125 ERCC5 Zornitza Stark Classified gene: ERCC5 as Green List (high evidence)
Arthrogryposis v0.125 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Arthrogryposis v0.124 ERCC5 Zornitza Stark edited their review of gene: ERCC5: Changed publications: 24700531, 32557569
Arthrogryposis v0.124 ERCC5 Zornitza Stark changed review comment from: Single family reported with 5 affected fetuses and severe COFS including arthrogryposis.
Sources: Expert list; to: A family reported with 5 affected fetuses and severe COFS including arthrogryposis in PMID:24700531. Further two included in a recent review of severe neonatal presentations of nucleotide excision-repair disorders (PMID:32557569).
Sources: Expert list
Arthrogryposis v0.124 ERCC5 Zornitza Stark edited their review of gene: ERCC5: Changed rating: GREEN
Arthrogryposis v0.124 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Arthrogryposis v0.124 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.124 ERCC5 Zornitza Stark Classified gene: ERCC5 as Amber List (moderate evidence)
Arthrogryposis v0.124 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.123 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC5 were set to 24700531
Phenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3, MIM# 616570
Review for gene: ERCC5 was set to AMBER
Added comment: Single family reported with 5 affected fetuses and severe COFS including arthrogryposis.
Sources: Expert list
Arthrogryposis v0.122 ERBB3 Zornitza Stark Marked gene: ERBB3 as ready
Arthrogryposis v0.122 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.122 ERBB3 Zornitza Stark Phenotypes for gene: ERBB3 were changed from to Lethal congenital contractural syndrome 2, MIM# 607598
Arthrogryposis v0.121 ERBB3 Zornitza Stark Publications for gene: ERBB3 were set to
Arthrogryposis v0.120 ERBB3 Zornitza Stark Mode of inheritance for gene: ERBB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.119 ERBB3 Zornitza Stark Classified gene: ERBB3 as Amber List (moderate evidence)
Arthrogryposis v0.119 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.118 ERBB3 Zornitza Stark reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701904, 31752936; Phenotypes: Lethal congenital contractural syndrome 2, MIM# 607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.118 EIF2S3 Zornitza Stark Marked gene: EIF2S3 as ready
Arthrogryposis v0.118 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Red List (Low Evidence).
Arthrogryposis v0.118 EIF2S3 Zornitza Stark Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148
Arthrogryposis v0.117 EIF2S3 Zornitza Stark Publications for gene: EIF2S3 were set to
Arthrogryposis v0.116 EIF2S3 Zornitza Stark Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.115 EIF2S3 Zornitza Stark Classified gene: EIF2S3 as Red List (low evidence)
Arthrogryposis v0.115 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Red List (Low Evidence).
Arthrogryposis v0.114 EIF2S3 Zornitza Stark reviewed gene: EIF2S3: Rating: RED; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.114 EBP Zornitza Stark Publications for gene: EBP were set to 21634086
Arthrogryposis v0.113 EBP Zornitza Stark edited their review of gene: EBP: Changed publications: 21634086, 24704792
Arthrogryposis v0.113 EBP Zornitza Stark Marked gene: EBP as ready
Arthrogryposis v0.113 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Arthrogryposis v0.113 EBP Zornitza Stark Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Arthrogryposis v0.112 EBP Zornitza Stark Publications for gene: EBP were set to
Arthrogryposis v0.111 EBP Zornitza Stark Mode of inheritance for gene: EBP was changed from Unknown to Other
Arthrogryposis v0.110 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21634086; Phenotypes: Chondrodysplasia punctata, X-linked dominant, MIM# 302960; Mode of inheritance: Other
Arthrogryposis v0.110 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Arthrogryposis v0.110 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Arthrogryposis v0.110 DYNC1H1 Zornitza Stark Classified gene: DYNC1H1 as Green List (high evidence)
Arthrogryposis v0.110 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Arthrogryposis v0.109 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1H1 were set to 25609763; 25512093; 28554554
Phenotypes for gene: DYNC1H1 were set to 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
Review for gene: DYNC1H1 was set to GREEN
Added comment: Phenotypes associated with DYNC1H1 range from spinal muscular atrophy (SMA), hereditary motor and sensory neuropathy (HMSN), cortical malformations, or a combination of these. Multiple families reported where arthrogryposis is a prominent feature.
Sources: Expert list
Arthrogryposis v0.108 DPM2 Zornitza Stark Marked gene: DPM2 as ready
Arthrogryposis v0.108 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.108 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM# 615042
Arthrogryposis v0.107 DPM2 Zornitza Stark Publications for gene: DPM2 were set to
Arthrogryposis v0.106 DPM2 Zornitza Stark Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.105 DPM2 Zornitza Stark Classified gene: DPM2 as Amber List (moderate evidence)
Arthrogryposis v0.105 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.104 DPM2 Zornitza Stark reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM# 615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.104 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Arthrogryposis v0.104 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Arthrogryposis v0.104 DPAGT1 Zornitza Stark Classified gene: DPAGT1 as Green List (high evidence)
Arthrogryposis v0.104 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Arthrogryposis v0.103 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 26033833; 22786653; 30653653; 22492991
Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij; Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
Review for gene: DPAGT1 was set to GREEN
Added comment: Fetal akinesia and AMC.
Sources: Expert list
Arthrogryposis v0.102 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Arthrogryposis v0.102 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Arthrogryposis v0.102 DHCR24 Zornitza Stark Classified gene: DHCR24 as Green List (high evidence)
Arthrogryposis v0.102 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Arthrogryposis v0.101 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR24 were set to 21671375; 12457401; 29175559; 21559050
Phenotypes for gene: DHCR24 were set to Desmosterolosis, MIM# 602398
Review for gene: DHCR24 was set to GREEN
Added comment: At least 4 families reported where contractures are a feature of the condition.
Sources: Expert list
Arthrogryposis v0.100 DCX Zornitza Stark Marked gene: DCX as ready
Arthrogryposis v0.100 DCX Zornitza Stark Gene: dcx has been classified as Red List (Low Evidence).
Arthrogryposis v0.100 DCX Zornitza Stark Phenotypes for gene: DCX were changed from to Lissencephaly, X-linked, MIM# 300067
Arthrogryposis v0.99 DCX Zornitza Stark Publications for gene: DCX were set to
Arthrogryposis v0.98 DCX Zornitza Stark Mode of inheritance for gene: DCX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.97 DCX Zornitza Stark Classified gene: DCX as Red List (low evidence)
Arthrogryposis v0.97 DCX Zornitza Stark Gene: dcx has been classified as Red List (Low Evidence).
Arthrogryposis v0.96 DCX Zornitza Stark reviewed gene: DCX: Rating: RED; Mode of pathogenicity: None; Publications: 20301364; Phenotypes: Lissencephaly, X-linked, MIM# 300067; Mode of inheritance: None
Arthrogryposis v0.96 COASY Zornitza Stark Marked gene: COASY as ready
Arthrogryposis v0.96 COASY Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.96 COASY Zornitza Stark Classified gene: COASY as Amber List (moderate evidence)
Arthrogryposis v0.96 COASY Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.95 COASY Zornitza Stark gene: COASY was added
gene: COASY was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 30089828
Phenotypes for gene: COASY were set to Pontocerebellar hypoplasia; microcephaly; arthrogryposis
Review for gene: COASY was set to AMBER
Added comment: Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis. Note gene is also associated with NBIA.
Sources: Expert list
Arthrogryposis v0.94 CASK Zornitza Stark Marked gene: CASK as ready
Arthrogryposis v0.94 CASK Zornitza Stark Gene: cask has been classified as Red List (Low Evidence).
Arthrogryposis v0.94 CASK Zornitza Stark Phenotypes for gene: CASK were changed from to FG syndrome 4, MIM# 300422; Mental retardation, with or without nystagmus, MIM# 300422
Arthrogryposis v0.93 CASK Zornitza Stark Publications for gene: CASK were set to
Arthrogryposis v0.92 CASK Zornitza Stark Mode of inheritance for gene: CASK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.91 CASK Zornitza Stark Classified gene: CASK as Red List (low evidence)
Arthrogryposis v0.91 CASK Zornitza Stark Gene: cask has been classified as Red List (Low Evidence).
Arthrogryposis v0.90 CASK Zornitza Stark reviewed gene: CASK: Rating: RED; Mode of pathogenicity: None; Publications: 24278995; Phenotypes: FG syndrome 4, MIM# 300422, Mental retardation, with or without nystagmus, MIM# 300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.90 ATRX Zornitza Stark Marked gene: ATRX as ready
Arthrogryposis v0.90 ATRX Zornitza Stark Gene: atrx has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.90 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome, MIM# 301040
Arthrogryposis v0.89 ATRX Zornitza Stark Publications for gene: ATRX were set to
Arthrogryposis v0.88 ATRX Zornitza Stark Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.87 ATRX Zornitza Stark Classified gene: ATRX as Amber List (moderate evidence)
Arthrogryposis v0.87 ATRX Zornitza Stark Gene: atrx has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.86 ATRX Zornitza Stark reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301622; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.86 ATP1A2 Zornitza Stark Classified gene: ATP1A2 as Green List (high evidence)
Arthrogryposis v0.86 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Arthrogryposis v0.85 ATP1A2 Zornitza Stark changed review comment from: 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found on WES. Note mono allelic variants in this gene cause alternating hemiplegia/migraine phenotypes.
Sources: Expert list; to: 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found on WES. Mouse model is perinatal lethal. Note mono allelic variants in this gene cause alternating hemiplegia/migraine phenotypes.
Sources: Expert list
Arthrogryposis v0.85 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed rating: GREEN
Arthrogryposis v0.85 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Arthrogryposis v0.85 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.85 ATP1A2 Zornitza Stark Classified gene: ATP1A2 as Amber List (moderate evidence)
Arthrogryposis v0.85 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.84 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 30690204
Phenotypes for gene: ATP1A2 were set to hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency
Review for gene: ATP1A2 was set to AMBER
Added comment: 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found on WES. Note mono allelic variants in this gene cause alternating hemiplegia/migraine phenotypes.
Sources: Expert list
Arthrogryposis v0.83 ATAD1 Zornitza Stark Marked gene: ATAD1 as ready
Arthrogryposis v0.83 ATAD1 Zornitza Stark Gene: atad1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.83 ATAD1 Zornitza Stark Classified gene: ATAD1 as Amber List (moderate evidence)
Arthrogryposis v0.83 ATAD1 Zornitza Stark Gene: atad1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.82 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 29659736; 29390050; 28180185
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM# 618011
Review for gene: ATAD1 was set to AMBER
Added comment: At least one family where arthrogryposis was a prominent manifestation of this neurological condition.
Sources: Expert list
Arthrogryposis v0.81 ARX Zornitza Stark Marked gene: ARX as ready
Arthrogryposis v0.81 ARX Zornitza Stark Gene: arx has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.81 ARX Zornitza Stark Phenotypes for gene: ARX were changed from to 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
Arthrogryposis v0.80 ARX Zornitza Stark Publications for gene: ARX were set to
Arthrogryposis v0.79 ARX Zornitza Stark Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.78 ARX Zornitza Stark Classified gene: ARX as Amber List (moderate evidence)
Arthrogryposis v0.78 ARX Zornitza Stark Gene: arx has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.77 ARX Zornitza Stark reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: None; Publications: 21416597; 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; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.77 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Arthrogryposis v0.77 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Red List (Low Evidence).
Arthrogryposis v0.77 AP1S2 Zornitza Stark Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, MIM# 304340
Arthrogryposis v0.76 AP1S2 Zornitza Stark Publications for gene: AP1S2 were set to
Arthrogryposis v0.75 AP1S2 Zornitza Stark Mode of inheritance for gene: AP1S2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.74 AP1S2 Zornitza Stark Classified gene: AP1S2 as Red List (low evidence)
Arthrogryposis v0.74 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Red List (Low Evidence).
Arthrogryposis v0.73 AP1S2 Zornitza Stark reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: None; Publications: 30714330; Phenotypes: Mental retardation, X-linked syndromic 5, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.73 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Arthrogryposis v0.73 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Arthrogryposis v0.73 ALG3 Zornitza Stark Classified gene: ALG3 as Green List (high evidence)
Arthrogryposis v0.73 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Arthrogryposis v0.72 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG3 were set to 16006436; 26453362; 28742265
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id 601110
Review for gene: ALG3 was set to GREEN
Added comment: Multiple families reported with this CDG and contractures.
Sources: Expert list
Arthrogryposis v0.71 TOR1A Zornitza Stark Marked gene: TOR1A as ready
Arthrogryposis v0.71 TOR1A Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence).
Arthrogryposis v0.71 TOR1A Zornitza Stark Classified gene: TOR1A as Green List (high evidence)
Arthrogryposis v0.71 TOR1A Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence).
Arthrogryposis v0.70 TOR1A Michelle Torres changed review comment from: 5 patients reported by multiple authors supporting that biallelic mutations (missense, inframe del and protein truncating) in TOR1A cause severe arthrogryposis. Other variable features are developmental delay, strabismus and tremor. Parents carriers do not have symptoms of autosomal dominant dystonia, also associate with this gene and known to have incomplete penetrance (OMIM).
Sources: Literature; to: 5 families reported by multiple authors supporting that biallelic mutations (missense, inframe del and protein truncating) in TOR1A cause severe arthrogryposis. Other variable features are developmental delay, strabismus and tremor. Parents carriers do not have symptoms of autosomal dominant dystonia, also associate with this gene and known to have incomplete penetrance (OMIM).
Sources: Literature
Arthrogryposis v0.70 TOR1A Michelle Torres gene: TOR1A was added
gene: TOR1A was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1A were set to PMID: 30244176
Phenotypes for gene: TOR1A were set to Arthrogryposis
Review for gene: TOR1A was set to GREEN
Added comment: 5 patients reported by multiple authors supporting that biallelic mutations (missense, inframe del and protein truncating) in TOR1A cause severe arthrogryposis. Other variable features are developmental delay, strabismus and tremor. Parents carriers do not have symptoms of autosomal dominant dystonia, also associate with this gene and known to have incomplete penetrance (OMIM).
Sources: Literature
Arthrogryposis v0.70 CACNA1E Zornitza Stark Marked gene: CACNA1E as ready
Arthrogryposis v0.70 CACNA1E Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence).
Arthrogryposis v0.70 CACNA1E Zornitza Stark Classified gene: CACNA1E as Green List (high evidence)
Arthrogryposis v0.70 CACNA1E Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence).
Arthrogryposis v0.69 CACNA1E Elena Savva gene: CACNA1E was added
gene: CACNA1E was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to PMID: 30343943
Phenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69 618285
Mode of pathogenicity for gene: CACNA1E was set to Other
Added comment: PMID: 30343943 - 30 patients with de novo variants and early-onset developmental and epileptic encephalopathy. Patients had developmental regression (9/30), severe hypotonia (16/30), seizures (26/30), congenital joint contractures (13/30), macrocephaly (13/30). MRI shows white matter loss, cortical atrophy
Variants showed a GOF and LOF.
Sources: Literature
Arthrogryposis v0.69 TPM2 Zornitza Stark Marked gene: TPM2 as ready
Arthrogryposis v0.69 TPM2 Zornitza Stark Gene: tpm2 has been classified as Green List (High Evidence).
Arthrogryposis v0.69 TPM2 Zornitza Stark Phenotypes for gene: TPM2 were changed from to Arthrogryposis, distal, type 1A/2B4 (MIM#108120)
Arthrogryposis v0.68 TPM2 Zornitza Stark Publications for gene: TPM2 were set to
Arthrogryposis v0.67 TPM2 Zornitza Stark Mode of inheritance for gene: TPM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.66 FLNC Zornitza Stark Marked gene: FLNC as ready
Arthrogryposis v0.66 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Arthrogryposis v0.66 FLNC Zornitza Stark Classified gene: FLNC as Green List (high evidence)
Arthrogryposis v0.66 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Arthrogryposis v0.65 TPM2 Crystle Lee reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30285720, 27726070, 24692096; Phenotypes: Arthrogryposis, distal, type 1A/2B4 (MIM#108120); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v0.65 FLNC Elena Savva gene: FLNC was added
gene: FLNC was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FLNC were set to PMID: 29858533
Phenotypes for gene: FLNC were set to Cardiomyopathy, familial restrictive 5 617047; Myopathy, distal, 4 614065; Myopathy, myofibrillar, 5 609524
Mode of pathogenicity for gene: FLNC was set to Other
Review for gene: FLNC was set to GREEN
Added comment: Myofibrillar myopathy - LOF
Distal myopathy - GOF
Cardiomyopathy, familial hypertrophic - LOF PTCs

PMID: 29858533 - 4 patients with both restrictive cardiomyopathy and congenital myopathy. 4/4 displayed limb girdle muscle weakness, where 1/4 was mild.
3/4 also presented with arthrogryposis
Sources: Literature
Arthrogryposis v0.65 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Arthrogryposis v0.65 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Arthrogryposis v0.65 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1 (MIM#601776)
Arthrogryposis v0.64 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Arthrogryposis v0.63 CHST14 Zornitza Stark Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.62 CHST14 Crystle Lee reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 (MIM#601776); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.62 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Arthrogryposis v0.62 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Arthrogryposis v0.62 ASCC1 Zornitza Stark Classified gene: ASCC1 as Green List (high evidence)
Arthrogryposis v0.62 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Arthrogryposis v0.61 ASCC1 Elena Savva gene: ASCC1 was added
gene: ASCC1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to PMID: 28218388; 30327447; 26924529
Phenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2 MIM#616867
Review for gene: ASCC1 was set to GREEN
Added comment: PMID: 28218388 - 1 Portuguese child with a homozygous PTC and mild arthrogryposis, and ongenital generalized hypotonia, lack of spontaneous movements and atrophic muscle fibres. Papers reviews another report (PMID: 26924529) where the Turkish patient also had arthrogryposis and the same homozygous PTC

PMID: 30327447 - 3 unrelated families with severe prenatal onset muscle weakness, neonatal hypotonia and arthrogryposis. All families had biallelic PTCs, where one family was homozygous and another compound heterozygous for the recurring p.Glu53fs*19 mutation.
Sources: Literature
Arthrogryposis v0.61 NUP88 Zornitza Stark Marked gene: NUP88 as ready
Arthrogryposis v0.61 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Arthrogryposis v0.61 NUP88 Zornitza Stark Classified gene: NUP88 as Green List (high evidence)
Arthrogryposis v0.61 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Arthrogryposis v0.60 NUP88 Zornitza Stark changed review comment from: Two unrelated families and a zebrafish model reported.
Sources: Literature; to: Two unrelated families, functional data on the variants support pathogenicity as does a zebrafish model.
Sources: Literature
Arthrogryposis v0.60 NUP88 Zornitza Stark edited their review of gene: NUP88: Changed rating: GREEN; Changed phenotypes: Fetal akinesia deformation sequence 4, MIM# 618393
Arthrogryposis v0.60 NUP88 Zornitza Stark gene: NUP88 was added
gene: NUP88 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP88 were set to 30543681
Phenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MIM# 618393
Review for gene: NUP88 was set to AMBER
Added comment: Two unrelated families and a zebrafish model reported.
Sources: Literature
Arthrogryposis v0.59 ADCY6 Zornitza Stark Marked gene: ADCY6 as ready
Arthrogryposis v0.59 ADCY6 Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence).
Arthrogryposis v0.59 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from ?Lethal congenital contracture syndrome 8, OMIM # 616287 to Lethal congenital contracture syndrome 8, OMIM # 616287
Arthrogryposis v0.58 ADCY6 Chirag Patel Classified gene: ADCY6 as Green List (high evidence)
Arthrogryposis v0.58 ADCY6 Chirag Patel Gene: adcy6 has been classified as Green List (High Evidence).
Arthrogryposis v0.57 ADCY6 Chirag Patel Classified gene: ADCY6 as Green List (high evidence)
Arthrogryposis v0.57 ADCY6 Chirag Patel Gene: adcy6 has been classified as Green List (High Evidence).
Arthrogryposis v0.56 ADCY6 Chirag Patel gene: ADCY6 was added
gene: ADCY6 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to PMID: 24319099, 26257172, 31846058
Phenotypes for gene: ADCY6 were set to ?Lethal congenital contracture syndrome 8, OMIM # 616287
Review for gene: ADCY6 was set to GREEN
Added comment: Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth.

Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency.

Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies.
Sources: Literature
Arthrogryposis v0.55 ZC4H2 Zornitza Stark Marked gene: ZC4H2 as ready
Arthrogryposis v0.55 ZC4H2 Zornitza Stark Gene: zc4h2 has been classified as Green List (High Evidence).
Arthrogryposis v0.55 ZC4H2 Zornitza Stark Phenotypes for gene: ZC4H2 were changed from to Wieacker-Wolff syndrome (MIM#314580)
Arthrogryposis v0.54 ZC4H2 Zornitza Stark Publications for gene: ZC4H2 were set to
Arthrogryposis v0.53 ZC4H2 Zornitza Stark Mode of inheritance for gene: ZC4H2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.52 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Arthrogryposis v0.52 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Arthrogryposis v0.52 VPS33B Zornitza Stark Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Arthrogryposis v0.51 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Arthrogryposis v0.50 VPS33B Zornitza Stark Mode of inheritance for gene: VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.49 VPS33B Crystle Lee reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31240160, 31777725, 24415890, 15052268; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.49 ZC4H2 Crystle Lee reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623388, 31885220; Phenotypes: Wieacker-Wolff syndrome (MIM#314580); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v0.49 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Arthrogryposis v0.49 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Arthrogryposis v0.49 TOR1AIP1 Zornitza Stark Classified gene: TOR1AIP1 as Green List (high evidence)
Arthrogryposis v0.49 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Arthrogryposis v0.48 TOR1AIP1 Zornitza Stark gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937; 32055997
Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures
Review for gene: TOR1AIP1 was set to GREEN
Added comment: Multiple families reported but highly variable phenotype; joint contractures observed in multiple individuals.
Sources: Literature
Arthrogryposis v0.47 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Arthrogryposis v0.47 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.47 SCYL2 Zornitza Stark Classified gene: SCYL2 as Amber List (moderate evidence)
Arthrogryposis v0.47 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.46 SCYL2 Kristin Rigbye gene: SCYL2 was added
gene: SCYL2 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome
Review for gene: SCYL2 was set to AMBER
Added comment: 2 unrelated consanguineous families reported with AMC (PMID: 31960134).
Constitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits (PMID: 26203146).
Sources: Literature
Arthrogryposis v0.46 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401
Arthrogryposis v0.45 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Arthrogryposis v0.45 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Arthrogryposis v0.44 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families and two animal models.
Arthrogryposis v0.44 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN; Changed publications: 23359570, 23877401, 23359570, 23217742
Arthrogryposis v0.44 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Arthrogryposis v0.44 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.44 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Arthrogryposis v0.43 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Arthrogryposis v0.42 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.41 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Arthrogryposis v0.41 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.40 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.40 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Arthrogryposis v0.40 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Arthrogryposis v0.40 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Myopathy, tubular aggregate, 1 160565; Stormorken syndrome 185070
Arthrogryposis v0.39 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Arthrogryposis v0.38 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.37 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332920, 31448844; Phenotypes: Myopathy, tubular aggregate, 1 160565, Stormorken syndrome 185070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.37 SMPD4 Alison Yeung Marked gene: SMPD4 as ready
Arthrogryposis v0.37 SMPD4 Alison Yeung Gene: smpd4 has been classified as Green List (High Evidence).
Arthrogryposis v0.37 SMPD4 Alison Yeung Classified gene: SMPD4 as Green List (high evidence)
Arthrogryposis v0.37 SMPD4 Alison Yeung Gene: smpd4 has been classified as Green List (High Evidence).
Arthrogryposis v0.36 SMPD4 Alison Yeung gene: SMPD4 was added
gene: SMPD4 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to 31495489
Phenotypes for gene: SMPD4 were set to Microcephaly; congenital arthrogryposis, intellectual disability
Review for gene: SMPD4 was set to GREEN
gene: SMPD4 was marked as current diagnostic
Added comment: Expansion of phenotype in known neurodevelopment disease gene
12 unrelated families reported. Arthrogryposis is a feature in 85%
Sources: Literature
Arthrogryposis v0.35 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Arthrogryposis v0.35 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
Arthrogryposis v0.35 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from to Laing distal myopathy 160500; Myopathy, myosin storage, autosomal dominant 608358; Myopathy, myosin storage, autosomal recessive 255160; Scapuloperoneal syndrome, myopathic type 181430
Arthrogryposis v0.34 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.33 MYH7 Zornitza Stark Publications for gene: MYH7 were set to
Arthrogryposis v0.32 MYH7 Zornitza Stark Classified gene: MYH7 as Red List (low evidence)
Arthrogryposis v0.32 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
Arthrogryposis v0.31 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: 27519903; Phenotypes: Laing distal myopathy, MIM# 160500; Mode of inheritance: None
Arthrogryposis v0.31 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Arthrogryposis v0.31 FBN2 Zornitza Stark Gene: fbn2 has been classified as Green List (High Evidence).
Arthrogryposis v0.31 FBN2 Zornitza Stark Phenotypes for gene: FBN2 were changed from to Contractural arachnodactyly, congenital, MIM# 121050
Arthrogryposis v0.30 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.29 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital, MIM# 121050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.29 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Arthrogryposis v0.29 ADGRG6 Zornitza Stark Added comment: Comment when marking as ready: Gene previously known as GPR126.
Arthrogryposis v0.29 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Arthrogryposis v0.29 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Green List (high evidence)
Arthrogryposis v0.29 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Arthrogryposis v0.28 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to 30549416; 26004201
Arthrogryposis v0.27 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to 30549416
Arthrogryposis v0.26 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Green List (high evidence)
Arthrogryposis v0.26 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Arthrogryposis v0.25 MYH7 Elena Savva reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 29300372, 30924982, 24714796, 30623132; Phenotypes: Cardiomyopathy, dilated, 1S 613426, Cardiomyopathy, hypertrophic, 1 192600, Laing distal myopathy 160500, Left ventricular noncompaction 5 613426, Myopathy, myosin storage, autosomal dominant 608358, Myopathy, myosin storage, autosomal recessive 255160, Scapuloperoneal syndrome, myopathic type 181430; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.25 ADGRG6 Crystle Lee reviewed gene: ADGRG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26004201; Phenotypes: Lethal congenital contracture syndrome 9 (MIM#616503); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.25 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Arthrogryposis v0.25 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Arthrogryposis v0.25 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from to Arthrogryposis, distal, with impaired proprioception and touch (MIM # 617146)
Arthrogryposis v0.24 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to
Arthrogryposis v0.23 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.22 PIEZO2 Ain Roesley reviewed gene: PIEZO2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30941898; Phenotypes: Arthrogryposis, distal, with impaired proprioception and touch (MIM # 617146); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.22 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Arthrogryposis v0.22 BICD2 Zornitza Stark Added comment: Comment when marking as ready: Arthrogryposis is a feature in some affected individuals.
Arthrogryposis v0.22 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Arthrogryposis v0.22 BICD2 Zornitza Stark Classified gene: BICD2 as Green List (high evidence)
Arthrogryposis v0.22 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Arthrogryposis v0.21 BICD2 Elena Savva gene: BICD2 was added
gene: BICD2 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICD2 were set to PMID: 28635954; 27751653
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291
Penetrance for gene: BICD2 were set to Incomplete
Review for gene: BICD2 was set to GREEN
Added comment: OMIM describes an established pathogenic variant (p.T703M) as inherited from an unaffected parent - has 2 hets in gnomAD

Requested for entry to this gene list following VPC - found several papers noting patient w/ Arthrogryposis
Sources: Literature
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Added comment: Comment when marking as ready: Joint stiffness and limitations described as part of the phenotype.
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600
Arthrogryposis v0.20 ADAMTS10 Zornitza Stark Publications for gene: ADAMTS10 were set to
Arthrogryposis v0.19 ADAMTS10 Elena Savva reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18567016; Phenotypes: Weill-Marchesani syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.19 TBCD Zornitza Stark Marked gene: TBCD as ready
Arthrogryposis v0.19 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Arthrogryposis v0.19 TBCD Zornitza Stark Classified gene: TBCD as Green List (high evidence)
Arthrogryposis v0.19 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Arthrogryposis v0.16 TBCD Tiong Tan gene: TBCD was added
gene: TBCD was added to Arthrogryposis. Sources: Literature
umccr tags were added to gene: TBCD.
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCD were set to 27666370; 27666374
Phenotypes for gene: TBCD were set to ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
Penetrance for gene: TBCD were set to Complete
Review for gene: TBCD was set to GREEN
Added comment: Sources: Literature
Arthrogryposis v0.16 TBCD Tiong Tan gene: TBCD was added
gene: TBCD was added to Arthrogryposis. Sources: Literature
umccr tags were added to gene: TBCD.
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCD were set to 27666370; 27666374
Phenotypes for gene: TBCD were set to ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
Penetrance for gene: TBCD were set to Complete
Review for gene: TBCD was set to GREEN
Added comment: Sources: Literature
Arthrogryposis v0.15 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Arthrogryposis v0.14 Zornitza Stark Panel name changed from Arthrogryposis_VCGS to Arthrogryposis
Arthrogryposis v0.14 Zornitza Stark Panel name changed from Arthrogryposis_VCGS to Arthrogryposis
Panel types changed to Victorian Clinical Genetics Services
Arthrogryposis v0.13 ISLR2 Sue White Marked gene: ISLR2 as ready
Arthrogryposis v0.13 ISLR2 Sue White Gene: islr2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.13 ISLR2 Sue White Classified gene: ISLR2 as Amber List (moderate evidence)
Arthrogryposis v0.13 ISLR2 Sue White Gene: islr2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.12 ISLR2 Sue White gene: ISLR2 was added
gene: ISLR2 was added to Arthrogryposis_VCGS. Sources: Literature
Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISLR2 were set to 30483960
Phenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension
Penetrance for gene: ISLR2 were set to Complete
Added comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Literature
Arthrogryposis v0.11 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Arthrogryposis v0.11 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Arthrogryposis v0.11 ADGRG6 Zornitza Stark Phenotypes for gene: ADGRG6 were changed from to Lethal congenital contracture syndrome 9; OMIM #616503
Arthrogryposis v0.10 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to
Arthrogryposis v0.9 ADGRG6 Zornitza Stark Mode of inheritance for gene: ADGRG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.8 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Red List (low evidence)
Arthrogryposis v0.8 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Arthrogryposis v0.7 ADGRG6 Zornitza Stark reviewed gene: ADGRG6: Rating: RED; Mode of pathogenicity: None; Publications: 30549416; Phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.7 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Arthrogryposis v0.7 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Arthrogryposis v0.7 CNTNAP1 Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286
Arthrogryposis v0.6 CNTNAP1 Zornitza Stark Publications for gene: CNTNAP1 were set to
Arthrogryposis v0.5 CNTNAP1 Zornitza Stark Mode of inheritance for gene: CNTNAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.3 SYNE1 Zornitza Stark Marked gene: SYNE1 as ready
Arthrogryposis v0.3 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Arthrogryposis v0.3 SYNE1 Zornitza Stark Classified gene: SYNE1 as Green List (high evidence)
Arthrogryposis v0.3 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Arthrogryposis v0.2 SYNE1 Zornitza Stark gene: SYNE1 was added
gene: SYNE1 was added to Arthrogryposis_VCGS. Sources: Literature
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNE1 were set to 27782104
Phenotypes for gene: SYNE1 were set to Distal arthrogryposis
Review for gene: SYNE1 was set to GREEN
Added comment: Three families reported with bi-allelic distal truncating variants in this gene (KASH domain). This appears to be a specific genotype-phenotype correlation with variants elsewhere in the gene causing different phenotypes.
Sources: Literature
Arthrogryposis v0.1 B3GNT2 Zornitza Stark Marked gene: B3GNT2 as ready
Arthrogryposis v0.1 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Arthrogryposis v0.1 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Red List (low evidence)
Arthrogryposis v0.1 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Arthrogryposis v0.0 B3GNT2 Zornitza Stark reviewed gene: B3GNT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arthrogryposis v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZMPSTE24 was set to Unknown
Arthrogryposis v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC3 was set to Unknown
Arthrogryposis v0.0 ZC4H2 Zornitza Stark gene: ZC4H2 was added
gene: ZC4H2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZC4H2 was set to Unknown
Arthrogryposis v0.0 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS33B was set to Unknown
Arthrogryposis v0.0 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VIPAS39 was set to Unknown
Arthrogryposis v0.0 UNC80 Zornitza Stark gene: UNC80 was added
gene: UNC80 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC80 was set to Unknown
Arthrogryposis v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBA1 was set to Unknown
Arthrogryposis v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN54 was set to Unknown
Arthrogryposis v0.0 TRPV4 Zornitza Stark gene: TRPV4 was added
gene: TRPV4 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPV4 was set to Unknown
Arthrogryposis v0.0 TRIP4 Zornitza Stark gene: TRIP4 was added
gene: TRIP4 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIP4 was set to Unknown
Arthrogryposis v0.0 TPM3 Zornitza Stark gene: TPM3 was added
gene: TPM3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPM3 was set to Unknown
Arthrogryposis v0.0 TPM2 Zornitza Stark gene: TPM2 was added
gene: TPM2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPM2 was set to Unknown
Arthrogryposis v0.0 TNNT3 Zornitza Stark gene: TNNT3 was added
gene: TNNT3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNNT3 was set to Unknown
Arthrogryposis v0.0 TNNT1 Zornitza Stark gene: TNNT1 was added
gene: TNNT1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNNT1 was set to Unknown
Arthrogryposis v0.0 TNNI2 Zornitza Stark gene: TNNI2 was added
gene: TNNI2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNNI2 was set to Unknown
Arthrogryposis v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFBR2 was set to Unknown
Arthrogryposis v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFBR1 was set to Unknown
Arthrogryposis v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFB3 was set to Unknown
Arthrogryposis v0.0 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFB2 was set to Unknown
Arthrogryposis v0.0 TBX22 Zornitza Stark gene: TBX22 was added
gene: TBX22 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX22 was set to Unknown
Arthrogryposis v0.0 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STIM1 was set to Unknown
Arthrogryposis v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMAD4 was set to Unknown
Arthrogryposis v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMAD3 was set to Unknown
Arthrogryposis v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC9A6 was set to Unknown
Arthrogryposis v0.0 SLC5A7 Zornitza Stark gene: SLC5A7 was added
gene: SLC5A7 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC5A7 was set to Unknown
Arthrogryposis v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SKI was set to Unknown
Arthrogryposis v0.0 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SELENON was set to Unknown
Arthrogryposis v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCARF2 was set to Unknown
Arthrogryposis v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RYR1 was set to Unknown
Arthrogryposis v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM5 was set to Unknown
Arthrogryposis v0.0 RIPK4 Zornitza Stark gene: RIPK4 was added
gene: RIPK4 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RIPK4 was set to Unknown
Arthrogryposis v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBM10 was set to Unknown
Arthrogryposis v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAPSN was set to Unknown
Arthrogryposis v0.0 PRG4 Zornitza Stark gene: PRG4 was added
gene: PRG4 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRG4 was set to Unknown
Arthrogryposis v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POR was set to Unknown
Arthrogryposis v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT2 was set to Unknown
Arthrogryposis v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT1 was set to Unknown
Arthrogryposis v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMK was set to Unknown
Arthrogryposis v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMGNT2 was set to Unknown
Arthrogryposis v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMGNT1 was set to Unknown
Arthrogryposis v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLOD2 was set to Unknown
Arthrogryposis v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLOD1 was set to Unknown
Arthrogryposis v0.0 PIP5K1C Zornitza Stark gene: PIP5K1C was added
gene: PIP5K1C was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIP5K1C was set to Unknown
Arthrogryposis v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIEZO2 was set to Unknown
Arthrogryposis v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PFKM was set to Unknown
Arthrogryposis v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX7 was set to Unknown
Arthrogryposis v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX6 was set to Unknown
Arthrogryposis v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX5 was set to Unknown
Arthrogryposis v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX3 was set to Unknown
Arthrogryposis v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX26 was set to Unknown
Arthrogryposis v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX2 was set to Unknown
Arthrogryposis v0.0 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX19 was set to Unknown
Arthrogryposis v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX16 was set to Unknown
Arthrogryposis v0.0 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX14 was set to Unknown
Arthrogryposis v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX13 was set to Unknown
Arthrogryposis v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX12 was set to Unknown
Arthrogryposis v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX11B was set to Unknown
Arthrogryposis v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX10 was set to Unknown
Arthrogryposis v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX1 was set to Unknown
Arthrogryposis v0.0 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ORAI1 was set to Unknown
Arthrogryposis v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OFD1 was set to Unknown
Arthrogryposis v0.0 NEB Zornitza Stark gene: NEB was added
gene: NEB was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEB was set to Unknown
Arthrogryposis v0.0 NALCN Zornitza Stark gene: NALCN was added
gene: NALCN was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NALCN was set to Unknown
Arthrogryposis v0.0 MYH8 Zornitza Stark gene: MYH8 was added
gene: MYH8 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH8 was set to Unknown
Arthrogryposis v0.0 MYH7 Zornitza Stark gene: MYH7 was added
gene: MYH7 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH7 was set to Unknown
Arthrogryposis v0.0 MYH3 Zornitza Stark gene: MYH3 was added
gene: MYH3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH3 was set to Unknown
Arthrogryposis v0.0 MYH2 Zornitza Stark gene: MYH2 was added
gene: MYH2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH2 was set to Unknown
Arthrogryposis v0.0 MYBPC1 Zornitza Stark gene: MYBPC1 was added
gene: MYBPC1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYBPC1 was set to Unknown
Arthrogryposis v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MUSK was set to Unknown
Arthrogryposis v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTM1 was set to Unknown
Arthrogryposis v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MED12 was set to Unknown
Arthrogryposis v0.0 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMOD3 was set to Unknown
Arthrogryposis v0.0 LGI4 Zornitza Stark gene: LGI4 was added
gene: LGI4 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LGI4 was set to Unknown
Arthrogryposis v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LARGE1 was set to Unknown
Arthrogryposis v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMA2 was set to Unknown
Arthrogryposis v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: L1CAM was set to Unknown
Arthrogryposis v0.0 KLHL7 Zornitza Stark gene: KLHL7 was added
gene: KLHL7 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KLHL7 was set to Unknown
Arthrogryposis v0.0 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KLHL41 was set to Unknown
Arthrogryposis v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KLHL40 was set to Unknown
Arthrogryposis v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIAA1109 was set to Unknown
Arthrogryposis v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KAT6B was set to Unknown
Arthrogryposis v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ISPD was set to Unknown
Arthrogryposis v0.0 IRF6 Zornitza Stark gene: IRF6 was added
gene: IRF6 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IRF6 was set to Unknown
Arthrogryposis v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSPG2 was set to Unknown
Arthrogryposis v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPC3 was set to Unknown
Arthrogryposis v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GMPPB was set to Unknown
Arthrogryposis v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLE1 was set to Unknown
Arthrogryposis v0.0 GLDN Zornitza Stark gene: GLDN was added
gene: GLDN was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLDN was set to Unknown
Arthrogryposis v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBE1 was set to Unknown
Arthrogryposis v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBA was set to Unknown
Arthrogryposis v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLNB was set to Unknown
Arthrogryposis v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLNA was set to Unknown
Arthrogryposis v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKTN was set to Unknown
Arthrogryposis v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKRP was set to Unknown
Arthrogryposis v0.0 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKBP10 was set to Unknown
Arthrogryposis v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FHL1 was set to Unknown
Arthrogryposis v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR3 was set to Unknown
Arthrogryposis v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR2 was set to Unknown
Arthrogryposis v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGD1 was set to Unknown
Arthrogryposis v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBN2 was set to Unknown
Arthrogryposis v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM20C was set to Unknown
Arthrogryposis v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXOSC3 was set to Unknown
Arthrogryposis v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC8 was set to Unknown
Arthrogryposis v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC6 was set to Unknown
Arthrogryposis v0.0 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERBB3 was set to Unknown
Arthrogryposis v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2S3 was set to Unknown
Arthrogryposis v0.0 ECEL1 Zornitza Stark gene: ECEL1 was added
gene: ECEL1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ECEL1 was set to Unknown
Arthrogryposis v0.0 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EBP was set to Unknown
Arthrogryposis v0.0 DPM2 Zornitza Stark gene: DPM2 was added
gene: DPM2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPM2 was set to Unknown
Arthrogryposis v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOK7 was set to Unknown
Arthrogryposis v0.0 DNM2 Zornitza Stark gene: DNM2 was added
gene: DNM2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNM2 was set to Unknown
Arthrogryposis v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCX was set to Unknown
Arthrogryposis v0.0 DAG1 Zornitza Stark gene: DAG1 was added
gene: DAG1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DAG1 was set to Unknown
Arthrogryposis v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRLF1 was set to Unknown
Arthrogryposis v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COLQ was set to Unknown
Arthrogryposis v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL6A3 was set to Unknown
Arthrogryposis v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL6A2 was set to Unknown
Arthrogryposis v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL6A1 was set to Unknown
Arthrogryposis v0.0 COL12A1 Zornitza Stark gene: COL12A1 was added
gene: COL12A1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL12A1 was set to Unknown
Arthrogryposis v0.0 CNTNAP1 Zornitza Stark gene: CNTNAP1 was added
gene: CNTNAP1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CNTNAP1 was set to Unknown
Arthrogryposis v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHST14 was set to Unknown
Arthrogryposis v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNG was set to Unknown
Arthrogryposis v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNE was set to Unknown
Arthrogryposis v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRND was set to Unknown
Arthrogryposis v0.0 CHRNB1 Zornitza Stark gene: CHRNB1 was added
gene: CHRNB1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNB1 was set to Unknown
Arthrogryposis v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNA1 was set to Unknown
Arthrogryposis v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHAT was set to Unknown
Arthrogryposis v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CASK was set to Unknown
Arthrogryposis v0.0 B4GAT1 Zornitza Stark gene: B4GAT1 was added
gene: B4GAT1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B4GAT1 was set to Unknown
Arthrogryposis v0.0 B3GNT2 Zornitza Stark gene: B3GNT2 was added
gene: B3GNT2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GNT2 was set to Unknown
Arthrogryposis v0.0 B3GALNT2 Zornitza Stark gene: B3GALNT2 was added
gene: B3GALNT2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GALNT2 was set to Unknown
Arthrogryposis v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATRX was set to Unknown
Arthrogryposis v0.0 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASXL1 was set to Unknown
Arthrogryposis v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARX was set to Unknown
Arthrogryposis v0.0 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP1S2 was set to Unknown
Arthrogryposis v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANTXR2 was set to Unknown
Arthrogryposis v0.0 ADGRG6 Zornitza Stark gene: ADGRG6 was added
gene: ADGRG6 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADGRG6 was set to Unknown
Arthrogryposis v0.0 ADAMTS10 Zornitza Stark gene: ADAMTS10 was added
gene: ADAMTS10 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADAMTS10 was set to Unknown
Arthrogryposis v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTA1 was set to Unknown
Arthrogryposis v0.0 Zornitza Stark Added panel Arthrogryposis_VCGS