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  3. CEP104
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Rare multisystem ciliopathy disorders

Gene: CEP104

Green List (high evidence)
CEP104 (centrosomal protein 104)
EnsemblGeneIds (GRCh38): ENSG00000116198
EnsemblGeneIds (GRCh37): ENSG00000116198
OMIM: 616690, Gene2Phenotype
CEP104 is in 9 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in three unrelated patients with Joubert. Recognised on G2P
Created: 25 Jan 2017, 12:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 25 616781

Publications

Created: 25 Jan 2017, 12:03 p.m.

Panel version: 0.452

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
OMIM
616690
Clinvar variants
Variants in CEP104
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

25 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

25 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for CEP104 were set to 26477546

25 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for CEP104 was changed to BIALLELIC, autosomal or pseudoautosomal

25 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

25 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CEP104 was added to Rare multisystem ciliopathy disorderspanel. Source: Other

25 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CEP104 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CEP104 was created by ellenmcdonagh