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  3. CERKL
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: CERKL

Green List (high evidence)
CERKL (ceramide kinase like)
EnsemblGeneIds (GRCh38): ENSG00000188452
EnsemblGeneIds (GRCh37): ENSG00000188452
OMIM: 608381, Gene2Phenotype
CERKL is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 families reported, though some variants are recurrent (founder).
Created: 7 Oct 2021, 3:04 a.m. | Last Modified: 7 Oct 2021, 3:04 a.m.
Panel Version: 0.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 26, MIM# 608380

Publications

Created: 7 Oct 2021, 3:04 a.m.
Last Modified: 7 Oct 2021, 3:04 a.m.
Panel version: 0.101

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene disease association established. Homozygous and compound heterozygous patients reported.
Created: 24 Mar 2020, 6:45 a.m. | Last Modified: 24 Mar 2020, 6:47 a.m.
Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 26 608380

Publications

Created: 24 Mar 2020, 6:41 a.m.
Last Modified: 24 Mar 2020, 6:47 a.m.
Panel version: Imported from Retinitis Pigmentosa panel version 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 26, MIM# 608380
OMIM
608381
Clinvar variants
Variants in CERKL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cerkl has been classified as Green List (High Evidence).

7 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CERKL were changed from Retinitis pigmentosa 26, 608380 to Retinitis pigmentosa 26, MIM# 608380

7 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CERKL were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CERKL was added gene: CERKL was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CERKL were set to Retinitis pigmentosa 26, 608380