Congenital Stationary Night Blindness

Gene: ITM2B

Red List (low evidence)

ITM2B (integral membrane protein 2B)
EnsemblGeneIds (GRCh38): ENSG00000136156
EnsemblGeneIds (GRCh37): ENSG00000136156
OMIM: 603904, Gene2Phenotype
ITM2B is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single family reported with an unusual retinal dystrophy phenotype (most similar to CSNB), segregating a heterozygous missense variant. Minimal functional evidence assessing protein expression and localisation in different tissues.
Sources: Expert list
Created: 21 May 2020, 11:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079
OMIM
603904
Clinvar variants
Variants in ITM2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: itm2b has been classified as Red List (Low Evidence).

21 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ITM2B was added gene: ITM2B was added to Congenital Stationary Night Blindness. Sources: Expert list Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITM2B were set to 24026677 Phenotypes for gene: ITM2B were set to ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 Review for gene: ITM2B was set to RED