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Fetal anomalies

Gene: GLMN

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Typically adult-onset.
Created: 24 Jan 2022, 7:42 a.m. | Last Modified: 24 Jan 2022, 7:42 a.m.
Panel Version: 0.2730

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

not detectable antenatally
Created: 24 Jan 2022, 3:51 a.m. | Last Modified: 24 Jan 2022, 3:51 a.m.
Panel Version: 0.2712

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glomuvenous malformations MIM#138000

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Glomuvenous malformations MIM#138000
OMIM
601749
Clinvar variants
Variants in GLMN
Penetrance
None
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glmn has been classified as Red List (Low Evidence).

24 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jan 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GLMN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLMN was added gene: GLMN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp 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