Autosomal recessive primary hypertrophic osteoarthropathy
Gene: HPGD
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: HPGD; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 11:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrophic osteoarthropathy, primary, autosomal recessive 1; 259100
Phenotypes for gene: HPGD were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 to Hypertrophic osteoarthropathy, primary, autosomal recessive 1 OMIM:259100
Source London North GLH was added to HPGD.
Phenotypes for gene: HPGD were changed from 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 to Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100
gene: HPGD was added gene: HPGD was added to Autosomal recessive primary hypertrophic osteoarthropathy. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPGD were set to 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1