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  3. ISLR2
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Hydrocephalus

Gene: ISLR2

Red List (low evidence)
ISLR2 (immunoglobulin superfamily containing leucine rich repeat 2)
EnsemblGeneIds (GRCh38): ENSG00000167178
EnsemblGeneIds (GRCh37): ENSG00000167178
OMIM: 614179, Gene2Phenotype
ISLR2 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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: 2.100
Created: 25 May 2021, 3:19 p.m.
Last Modified: 25 May 2021, 3:19 p.m.
Panel version: 2.100

Zornitza Stark (Australian Genomics)

I don't know

single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Expert list
Created: 8 Aug 2020, 12:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hydrocephalus; arthrogryposis; abdominal distension

Publications

Created: 8 Aug 2020, 12:41 a.m.

Panel version: 2.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hydrocephalus
  • arthrogryposis
  • abdominal distension
OMIM
614179
Clinvar variants
Variants in ISLR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ISLR2 were set to 30483960

25 May 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: islr2 has been classified as Red List (Low Evidence).

8 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ISLR2 was added gene: ISLR2 was added to Hydrocephalus. 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; abdominal distension Review for gene: ISLR2 was set to AMBER