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  3. CEP41
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Structural eye disease

Gene: CEP41

Red List (low evidence)
CEP41 (centrosomal protein 41)
EnsemblGeneIds (GRCh38): ENSG00000106477
EnsemblGeneIds (GRCh37): ENSG00000106477
OMIM: 610523, Gene2Phenotype
CEP41 is in 19 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
Joubert syndrome 15; 614464

Publications

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
Joubert syndrome 15, 614464

Publications

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

Panel version: 0.38

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CEP41. Added phenotypes Joubert syndrome 15, 614464 for gene: CEP41

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CEP41 was added gene: CEP41 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP41 were set to 22246503 Phenotypes for gene: CEP41 were set to Joubert syndrome