Arthrogryposis
Gene: ISLR2
ISLR2 (immunoglobulin superfamily containing leucine rich repeat 2)
EnsemblGeneIds (GRCh38): ENSG00000167178
EnsemblGeneIds (GRCh37): ENSG00000167178
OMIM: 614179, Gene2Phenotype
ISLR2 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000167178
EnsemblGeneIds (GRCh37): ENSG00000167178
OMIM: 614179, Gene2Phenotype
ISLR2 is in 4 panels
1 review
Sue White (Victorian Clinical Genetics Services)
single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: LiteratureCreated: 10 Jan 2020, 5:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hydrocephalus; arthrogryposis; abdominal distension
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- hydrocephalus
- arthrogryposis
- abdominal distension
- OMIM
- 614179
- Clinvar variants
- Variants in ISLR2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
10 Jan 2020, Gel status: 2
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: islr2 has been classified as Amber List (Moderate Evidence).
10 Jan 2020, Gel status: 2
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: islr2 has been classified as Amber List (Moderate Evidence).
10 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sue White (Victorian Clinical Genetics Services)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