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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 |