Pigmentary skin disorders

Gene: SAMD9

Green List (high evidence)

SAMD9 (sterile alpha motif domain containing 9)
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 19 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC, MIRAGE SYNDROME; MIRAGE

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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.

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes NFTC, MIRAGE SYNDROME; TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; MIRAGE for gene: SAMD9 Publications for gene SAMD9 were changed from to 27182967; 16960814

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to SAMD9.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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