Rare multisystem ciliopathy disorders
Gene: POC1A

POC1A (POC1 centriolar protein A)
EnsemblGeneIds (GRCh38): ENSG00000164087
EnsemblGeneIds (GRCh37): ENSG00000164087
OMIM: 614783, Gene2Phenotype
POC1A is in 10 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.

Created: 25 Jan 2017, 1:59 p.m.

Panel version: 0.471

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