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  3. GLMN
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Vascular Malformations_Somatic

Gene: GLMN

Green List (high evidence)
GLMN (glomulin, FKBP associated protein)
EnsemblGeneIds (GRCh38): ENSG00000174842
EnsemblGeneIds (GRCh37): ENSG00000174842
OMIM: 601749, Gene2Phenotype
GLMN is in 4 panels

1 review

Chris Richmond (Genetic Health Queensland)

Green List (high evidence)

Loss of function. Likely requires second hit for development of GVM: eg germline with second somatic hit (11845407)
Sources: Expert Review
Created: 2 Jul 2020, 12:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glomuvenous malformations (138000)

Publications

Created: 2 Jul 2020, 12:21 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomuvenous malformations (138000)
OMIM
601749
Clinvar variants
Variants in GLMN
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glmn has been classified as Green List (High Evidence).

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glmn has been classified as Green List (High Evidence).

2 Jul 2020, Gel status: 0

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

Chris Richmond (Genetic Health Queensland)

gene: GLMN was added gene: GLMN was added to Vascular Malformations_Somatic. Sources: Expert Review Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLMN were set to 11845407 Phenotypes for gene: GLMN were set to Glomuvenous malformations (138000) Penetrance for gene: GLMN were set to unknown Review for gene: GLMN was set to GREEN