Corneal abnormalities
Gene: AGBL1
AGBL1 (ATP/GTP binding protein like 1)
EnsemblGeneIds (GRCh38): ENSG00000273540
EnsemblGeneIds (GRCh37): ENSG00000166748
OMIM: 615496, Gene2Phenotype
AGBL1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000273540
EnsemblGeneIds (GRCh37): ENSG00000166748
OMIM: 615496, Gene2Phenotype
AGBL1 is in 2 panels
3 reviews
Chris Campbell (GEL)
Mutations only been reported by one author at time of review: Riazuddin et al. Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. Am J Hum Genet. 2013 Oct 3;93(4):758-64.
Weak evidence due to ExAc frequencies of both the nonsense and missense mutations in this paper, this may represent a risk factor as Fuchs is common and late onset.Created: 3 Mar 2017, 12:13 p.m.
Ellen McDonagh (Genomics England Curator)
PMID: 24094747 reports one family, where 2 locus were found to be linked to late onset Fuchs corneal dystrophy; one of which was narrowed down to a nonsense variant in AGBL1. They identified two further cases harboring the same nonsense mutation and a further three unrelated individuals bearing a second missense allele.Created: 3 Mar 2017, 10:57 a.m.
Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group - awaiting final review.Created: 22 Feb 2017, 10:22 a.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: 2 different variants, both show non-penetrance for a late onset form of corneal dystrophy. Possibly more a predisposition allele. Leave as amber unless further evidence accumulates.Created: 22 Feb 2017, 2:38 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
- OMIM
- 615496
- Clinvar variants
- Variants in AGBL1
- Penetrance
- Incomplete
- Publications
- Panels with this gene
History Filter Activity
9 Mar 2017, Gel status: 2
panel promoted to version 1
Chris Campbell (GEL)09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
3 Mar 2017, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for AGBL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
22 Feb 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
22 Feb 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
22 Feb 2017, Gel status: 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for AGBL1 were set to 24094747
28 Apr 2015, Gel status: 1
Added New Source
GEL ()AGBL1 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen