Skeletal dysplasia
Gene: GNPAT
Gene previously called DHAPAT.Chondrodysplasia punctata gp of SD. Many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RCDP2; Rhizomelic Chondrodysplasia Punctata; Chondrodysplasia punctata, rhizomelic, type 2, 222765; Rhizomelic chondrodysplasia punctata type 2
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: GNPAT; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 2 222765
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Rhizomelic Chondrodysplasia Punctata; RCDP2; Rhizomelic chondrodysplasia punctata type 2; Chondrodysplasia punctata, rhizomelic, type 2, 222765 for gene: GNPAT
Source NHS GMS was added to GNPAT. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
GNPAT was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services GNPAT was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen GNPAT was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
GNPAT was created by sleigh
GNPAT was added to Unexplained skeletal dysplasiapanel. Sources: