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  3. GLMN
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Vascular Malformations_Germline

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations, but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels.

Multiple families reported, somatic second hit postulated.
Created: 16 Jan 2021, 7:19 a.m. | Last Modified: 16 Jan 2021, 7:19 a.m.
Panel Version: 0.119

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glomuvenous malformations, MIM# 138000

Publications

Created: 16 Jan 2021, 7:19 a.m.
Last Modified: 16 Jan 2021, 7:19 a.m.
Panel version: 0.119

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glomuvenous malformations, MIM# 138000
OMIM
601749
Clinvar variants
Variants in GLMN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, 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).

16 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLMN were changed from Glomuvenous malformations to Glomuvenous malformations, MIM# 138000

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GLMN were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GLMN was added gene: GLMN was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLMN were set to Glomuvenous malformations