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  3. CEP83
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Rare multisystem ciliopathy disorders

Gene: CEP83

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

mutations identified in 8 patients from 7 families . Recognised on G2P and offered on GOS ciliopathy panel
Created: 19 Jan 2017, 4:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 18 615862

Publications

Created: 19 Jan 2017, 4:19 p.m.

Panel version: 0.405

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Orphanet
  • UKGTN
  • Expert list
Phenotypes
  • Nephronophthisis 18 615862
OMIM
615847
Clinvar variants
Variants in CEP83
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).

19 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for CEP83 were set to Nephronophthisis 18 615862

19 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for CEP83 were set to 24882706

19 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: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CEP83 were set to Nephronophthisis 18

25 Nov 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

CEP83 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CEP83 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

CEP83 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CEP83 were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CEP83 was created by ellenmcdonagh

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CEP83 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list