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Intellectual disability syndromic and non-syndromic

Gene: CEP41

Green List (high evidence)

CEP41 (centrosomal protein 41)
EnsemblGeneIds (GRCh38): ENSG00000106477
EnsemblGeneIds (GRCh37): ENSG00000106477
OMIM: 610523, Gene2Phenotype
CEP41 is in 15 panels

1 review

Mitchell O'Brien (CSIRO)

Green List (high evidence)

eight individuals from three families with documented consanguinity were reported in 2012 as presenting with Joubert syndrome.
Individuals from all families showed signs of intellectual disability of which one family presented with mild to borderline ID. Data on ID was not available for one patient from the latter family.

No families reported since 2012.
Created: 4 Dec 2022, 11:44 p.m. | Last Modified: 4 Dec 2022, 11:44 p.m.
Panel Version: 0.5067

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 15, MIM# 614464

Publications

History Filter Activity

5 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep41 has been classified as Green List (High Evidence).

5 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464

5 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CEP41 were set to

5 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP41 was added gene: CEP41 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CEP41 was set to Unknown