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Fetal anomalies v0.893 ISLR2 Zornitza Stark Marked gene: ISLR2 as ready
Fetal anomalies v0.893 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.893 ISLR2 Zornitza Stark Classified gene: ISLR2 as Amber List (moderate evidence)
Fetal anomalies v0.893 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.886 ISLR2 Krithika Murali gene: ISLR2 was added
gene: ISLR2 was added to Fetal anomalies. Sources: Expert list,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
Review for gene: ISLR2 was set to AMBER
Added comment: Homozygous truncating variant in a single consanguineous family segregated with severe congenital hydrocephalus, arthrogryposis multiplex congenita and abdominal distension. Mouse model also had hydrocephalus.
Sources: Expert list, Literature