1. Panels
  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. POC1A
Genes in panel
Prev Next
STRs in panel
Prev Next

GMS Musculoskeletal specialist test group 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 10 panels

1 review

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, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
OMIM
614783
Clinvar variants
Variants in POC1A
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: POC1A was added gene: POC1A was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813