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Rare multisystem ciliopathy disorders

Gene: POC1A

Red List (low evidence)

POC1A (POC1 centriolar protein A)
EnsemblGeneIds (GRCh38): ENSG00000164087
EnsemblGeneIds (GRCh37): ENSG00000164087
OMIM: 614783, Gene2Phenotype
POC1A is in 9 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Unlikely to meet entry criteria for this panel and only reported in three families
Created: 25 Jan 2017, 1:59 p.m.

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
OMIM
614783
Clinvar variants
Variants in POC1A
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

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: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

25 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POC1A 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)

POC1A was created by ellenmcdonagh