Skeletal dysplasia
Gene: HPGD
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, 11:44 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
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: HPGD; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:55 p.m.
Tier 1Created: 17 Jun 2016, 8:04 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
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Cranioosteoarthropathy 259100; Digital clubbing, isolated congenital 119900; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 for gene: HPGD
Source NHS GMS was added to HPGD. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for HPGD were set to Cranioosteoarthropathy 259100; Digital clubbing, isolated congenital 119900; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100
Mode of inheritance for HPGD was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
HPGD was added to Unexplained skeletal dysplasiapanel. Sources:
HPGD was created by sleigh