Vascular Malformations_Germline
Gene: GLMN
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
Gene: glmn has been classified as Green List (High Evidence).
Phenotypes for gene: GLMN were changed from Glomuvenous malformations to Glomuvenous malformations, MIM# 138000
Publications for gene: GLMN were set to
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