Skeletal dysplasia
Gene: PCYT1A
Spondylometaphyseal dysplasias gp of SD. >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
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: PCYT1A; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 11:42 a.m.
Tier 1Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 for gene: PCYT1A
Source NHS GMS was added to PCYT1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Mode of inheritance for PCYT1A was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PCYT1A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
PCYT1A was created by sleigh
PCYT1A was added to Unexplained skeletal dysplasiapanel. Sources: