Comment on list classification: New gene added by Zornitza Stark. Single family reported in PMID: 30483960 with congenital hydrocephalus, arthrogryposis and abdominal distension and a homozygous a frameshift deletion that segregated with disease. Knockout mouse model recapitulates some features of the human phenotype, i.e. hydrocephalus (PMID: 29739947).
Rating Red, awaiting further cases.
Created: 25 May 2021, 3:19 p.m. | Last Modified: 25 May 2021, 3:19 p.m.
Panel Version: 3.101
Single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Expert list
Created: 11 Jul 2020, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: islr2 has been classified as Red List (Low Evidence).
gene: ISLR2 was added gene: ISLR2 was added to Arthrogryposis. Sources: Expert list 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 Review for gene: ISLR2 was set to AMBER