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  3. GLMN
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Fetal anomalies

Gene: GLMN

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Green in severe paediatric disorders panel. Red in fetal panel due to review in 2018. In hydrops review only one case. Green review on hydrops panel quoting this paper. PMID:23801931 - 381 individuals 162 families 1 had hydrops fetalis at 36 wks gestation, nine had plaque like GVMs - 2 instances associated with chylous ascites & pleural effusions. Very rare.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Plaque-Type Glomuvenous Malformations

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GLMN gene rating from Green to Red.
Created: 30 Apr 2019, 8:24 a.m.
DDG2P rating in original PAGE list: Confirmed for GLOMUVENOUS MALFORMATIONS
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.228

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Glomulovenous malformations, OMIM:138000
OMIM
601749
Clinvar variants
Variants in GLMN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GLMN were changed from Glomulovenous malformations, OMIM:138000; GLOMUVENOUS MALFORMATIONS to Glomulovenous malformations, OMIM:138000

29 Aug 2024, Gel status: 2

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Amber was added to GLMN. Source NHS GMS was added to GLMN. Mode of inheritance for gene GLMN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Glomulovenous malformations, OMIM:138000 for gene: GLMN Publications for gene: GLMN were updated from to 33082562; 23801931 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

30 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to GLMN. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, 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 Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype 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