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  2. Joubert syndrome and other neurological ciliopathies
  3. CEP104
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Joubert syndrome and other neurological ciliopathies

Gene: CEP104

Green List (high evidence)
CEP104 (centrosomal protein 104)
EnsemblGeneIds (GRCh38): ENSG00000116198
EnsemblGeneIds (GRCh37): ENSG00000116198
OMIM: 616690, Gene2Phenotype
CEP104 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list
Created: 1 Feb 2020, 3:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 25, MIM# 616781; MONDO:0014770

Publications

Created: 1 Feb 2020, 3:40 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 25, MIM# 616781
  • MONDO:0014770
OMIM
616690
Clinvar variants
Variants in CEP104
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770

1 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep104 has been classified as Green List (High Evidence).

1 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep104 has been classified as Green List (High Evidence).

1 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP104 was added gene: CEP104 was added to Joubert syndrome and other cerebellar malformations. Sources: Expert list Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP104 were set to 26477546 Phenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781 Review for gene: CEP104 was set to GREEN