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  2. Renal Ciliopathies and Nephronophthisis
  3. CEP104
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Renal Ciliopathies and Nephronophthisis

Gene: CEP104

Red List (low 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)

Red List (low evidence)

Predominantly a neurological ciliopathy, renal involvement not common/pronounced.
Created: 14 Jul 2021, 10:49 a.m. | Last Modified: 14 Jul 2021, 10:49 a.m.
Panel Version: 0.213

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 25, MIM# 616781

Created: 14 Jul 2021, 10:49 a.m.
Last Modified: 14 Jul 2021, 10:49 a.m.
Panel version: 0.213

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 25, MIM# 616781
  • MONDO:0014770
OMIM
616690
Clinvar variants
Variants in CEP104
Penetrance
None
Panels with this gene

History Filter Activity

14 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep104 has been classified as Red List (Low Evidence).

14 Jul 2021, Gel status: 1

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

14 Jul 2021, Gel status: 1

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

14 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep104 has been classified as Red List (Low Evidence).

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 Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: CEP104 was set to Unknown