Vascular skin disorders

Gene: GLMN

Green List (high evidence)

GLMN (glomulin, FKBP associated protein)
EnsemblGeneIds (GRCh38): ENSG00000174842
EnsemblGeneIds (GRCh37): ENSG00000174842
OMIM: 601749, Gene2Phenotype
GLMN is in 6 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

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: GLMN; 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, 12:05 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Glomulovenous malformations
OMIM
601749
Clinvar variants
Variants in GLMN
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to GLMN.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GLMN was added gene: GLMN was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLMN were set to Glomulovenous malformations