Structural eye disease
Gene: KCNV2

KCNV2 (potassium voltage-gated channel modifier subfamily V member 2)
EnsemblGeneIds (GRCh38): ENSG00000168263
EnsemblGeneIds (GRCh37): ENSG00000168263
OMIM: 607604, Gene2Phenotype
KCNV2 is in 3 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal cone dystrophy 3B; 610356

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal cone dystrophy 3B, 610356

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Retinal cone dystrophy 3B, 610356
Eye Disorders

OMIM

607604

Clinvar variants

Variants in KCNV2

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to KCNV2. Mode of inheritance for gene KCNV2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinal cone dystrophy 3B, 610356 for gene: KCNV2

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: KCNV2 was added gene: KCNV2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: KCNV2 was set to Phenotypes for gene: KCNV2 were set to Eye Disorders

Structural eye disease Gene: KCNV2