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Mendeliome

Gene: CEP104

Green List (high evidence)

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

2 reviews

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Papers suggests individuals with bi-allelic CEP104 variants have isolated ID without typical Joubert syndrome. Three unrelated individuals reported.
Created: 1 Sep 2022, 7:08 a.m. | Last Modified: 1 Sep 2022, 7:08 a.m.
Panel Version: 1.285

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CEP104 Neurodevelopmental disorder; MONDO:0014770

Publications

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported, ID is part of the phenotype.
Created: 26 Jun 2021, 7:56 a.m. | Last Modified: 26 Jun 2021, 7:56 a.m.
Panel Version: 0.8133

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

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

History Filter Activity

1 Sep 2022, 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; MONDO:0014770 to Joubert syndrome 25, MIM# 616781; MONDO:0014770; Neurodevelopmental disorder; MONDO:0014770, CEP104-related

1 Sep 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CEP104 were set to 26477546

26 Jun 2021, 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).

26 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CEP104 were set to

26 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP104 was added gene: CEP104 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CEP104 was set to Unknown