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Hydrocephalus

Gene: CEP83

Green List (high evidence)
CEP83 (centrosomal protein 83)
EnsemblGeneIds (GRCh38): ENSG00000173588
EnsemblGeneIds (GRCh37): ENSG00000173588
OMIM: 615847, Gene2Phenotype
CEP83 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Created: 29 Jul 2019, 2:49 p.m.
Last Modified: 29 Jul 2019, 2:49 p.m.
Panel version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient evidence of causation, hydrocephalus reported.
Created: 4 May 2017, 8:44 a.m.
8 patients from 7 families in above PMID. Hepatic and renal disease universally. Hydrocephalus / ID in 50% approx.
Created: 27 Apr 2017, 1:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 18 615862

Publications

Created: 27 Apr 2017, 1:33 p.m.

Panel version: 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Nephronophthisis 18, OMIM:615862
OMIM
615847
Clinvar variants
Variants in CEP83
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CEP83 were changed from Nephronophthisis 18 615862 to Nephronophthisis 18, OMIM:615862

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CEP83.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

27 Apr 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

CEP83 was added to Hydrocephaluspanel. Sources: Literature

27 Apr 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

CEP83 was created by helen.brittain