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Skeletal dysplasia

Gene: POC1A

Green List (high evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

primordial dwarfism. >3 unrelated cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813

Publications

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: POC1A; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least six variants reported
Created: 29 Jul 2016, 12:35 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
OMIM
614783
Clinvar variants
Variants in POC1A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 for gene: POC1A Publications for gene POC1A were changed from 26162852; 26336158; 26374189 to 26374189; 26162852; 26336158

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to POC1A. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

29 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for POC1A was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

29 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813

29 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POC1A were set to 26162852; 26336158; 26374189

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

29 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

POC1A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

POC1A was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

POC1A was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

POC1A was created by sleigh