Skeletal dysplasia
Gene: POC1A
primordial dwarfism. >3 unrelated cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Publications
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least six variants reportedCreated: 29 Jul 2016, 12:35 p.m.
Tier 2Created: 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
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
Source NHS GMS was added to POC1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for POC1A was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Publications for POC1A were set to 26162852; 26336158; 26374189
This gene has been classified as Green List (High Evidence).
POC1A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
POC1A was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
POC1A was added to Unexplained skeletal dysplasiapanel. Sources:
POC1A was created by sleigh