Congenital Stationary Night Blindness
Gene: ITM2BEnsemblGeneIds (GRCh38): ENSG00000136156
EnsemblGeneIds (GRCh37): ENSG00000136156
OMIM: 603904, Gene2Phenotype
ITM2B is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: itm2b has been classified as Red List (Low Evidence).
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