Pigmentary skin disorders

Gene: GPNMB

Green List (high evidence)

GPNMB (glycoprotein nmb)
EnsemblGeneIds (GRCh38): ENSG00000136235
EnsemblGeneIds (GRCh37): ENSG00000136235
OMIM: 604368, Gene2Phenotype
GPNMB is in 1 panel

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920

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: GPNMB; 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920
OMIM
604368
Clinvar variants
Variants in GPNMB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920 for gene: GPNMB Publications for gene GPNMB were changed from to 29336782

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to GPNMB.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GPNMB was added gene: GPNMB was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GPNMB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPNMB were set to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920