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Retinal disorders

Gene: CERKL

Green List (high evidence)
CERKL (ceramide kinase like)
EnsemblGeneIds (GRCh38): ENSG00000188452
EnsemblGeneIds (GRCh37): ENSG00000188452
OMIM: 608381, Gene2Phenotype
CERKL is in 3 panels

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 26

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2017, 4:29 p.m.

Panel version: 1.14

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:04 a.m.
Comment on mode of inheritance: Homozygous or compound heterozygous.
Created: 21 Mar 2016, 4:50 p.m.
Created: 21 Mar 2016, 4:50 p.m.

Panel version: 0.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 26, RP26 (AR)
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 26, 608380
OMIM
608381
Clinvar variants
Variants in CERKL
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CERKL. Rating Changed from Green List (high evidence) to Green List (high evidence)

21 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CERKL was changed to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CERKL was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CERKL was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green