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| Arthrogryposis v3.101 | ISLR2 | Arina Puzriakova Classified gene: ISLR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.101 | ISLR2 |
Arina Puzriakova Added comment: 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. |
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| Arthrogryposis v3.101 | ISLR2 | Arina Puzriakova Gene: islr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.11 | ISLR2 |
Zornitza Stark 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 Added comment: Single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus Sources: Expert list |
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