Pigmentary skin disordersGene: SAMD9
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: SAMD9; 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 NFTC, MIRAGE SYNDROME; TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; MIRAGE for gene: SAMD9 Publications for gene SAMD9 were changed from to 27182967; 16960814
Source London North GLH was added to SAMD9.
gene: SAMD9 was added gene: SAMD9 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SAMD9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SAMD9 were set to Familial tumoural calcinosis