GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: HPGDupdated. Reviews are correct. Only affects internal panel.Created: 3 May 2019, 9:59 a.m.
Other sclerosing bone disorders gp of SD. Het carriers can have mild skeletal features. Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cranioosteoarthropathy 259100; Digital clubbing, isolated congenital 119900; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100
Phenotypes for gene: HPGD were changed from Au-Kline syndrome:616580; Orphanet:453499 to Cranioosteoarthropathy 259100; Digital clubbing, isolated congenital 119900; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100
Mode of inheritance for gene: HPGD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: hpgd has been classified as Green List (High Evidence).
gene: HPGD was added gene: HPGD was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: HPGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HPGD were set to Au-Kline syndrome:616580; Orphanet:453499