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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