Pigmentary skin disordersGene: GALNT3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1
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: GALNT3; 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: 31 Jan 2019, 11:31 a.m.
Added phenotypes HFTC1; TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 for gene: GALNT3 Publications for gene GALNT3 were changed from to 15133511
Source London North GLH was added to GALNT3.
gene: GALNT3 was added gene: GALNT3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNT3 were set to Familial tumoural calcinosis