Structural eye disease
Gene: CERKL

CERKL (ceramide kinase like)
EnsemblGeneIds (GRCh38): ENSG00000188452
EnsemblGeneIds (GRCh37): ENSG00000188452
OMIM: 608381, Gene2Phenotype
CERKL 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
Retinitis pigmentosa 26; 608380

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
Retinitis pigmentosa 26, 608380

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

Retinitis pigmentosa 26, 608380
Eye Disorders

OMIM

608381

Clinvar variants

Variants in CERKL

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 CERKL. Mode of inheritance for gene CERKL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 26, 608380 for gene: CERKL

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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

Structural eye disease Gene: CERKL