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  2. Congenital nystagmus
  3. ITM2B
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Congenital nystagmus

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Apart from this one report of an eye phenotype, variants in this gene are associated with dementia.
Created: 28 Oct 2021, 1:20 a.m. | Last Modified: 28 Oct 2021, 1:20 a.m.
Panel Version: 0.164
Created: 28 Oct 2021, 1:20 a.m.
Last Modified: 28 Oct 2021, 1:20 a.m.
Panel version: 0.164

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

Created: 21 May 2020, 11:43 p.m.

Panel version: Imported from Congenital Stationary Night Blindness panel version 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • 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

28 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITM2B were changed from ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 to Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079

28 Oct 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITM2B were set to

6 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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