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  3. CEP164
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Rare multisystem ciliopathy disorders

Gene: CEP164

Green List (high evidence)
CEP164 (centrosomal protein 164)
EnsemblGeneIds (GRCh38): ENSG00000110274
EnsemblGeneIds (GRCh37): ENSG00000110274
OMIM: 614848, Gene2Phenotype
CEP164 is in 15 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green on the Unexplained kidney failure in young people version 1.0 gene panel, and Cystic kidney disease gene panel version 1.2, and more than 3 family reports.
Created: 12 Dec 2016, 12:55 p.m.
Created: 12 Dec 2016, 12:55 p.m.

Panel version: 0.365

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Nephronophthisis 15, 614845
  • ciliopathies
  • Senior-Loken syndrome
  • Nephronophthisis 15
OMIM
614848
Clinvar variants
Variants in CEP164
Penetrance
Complete
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

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

25 Nov 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CEP164 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet

25 Nov 2016, Gel status: 3

Upload gene information

Ellen McDonagh (Genomics England Curator)

CEP164 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

CEP164 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory

25 Nov 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CEP164 were set to Nephronophthisis 15, 614845;ciliopathies

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

CEP164 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CEP164 were set to Nephronophthisis 15, 614845

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CEP164 was created by ellenmcdonagh

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CEP164 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list