Corneal abnormalities
Gene: AGBL1Mutations 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.
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.
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.
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
Mode of inheritance for AGBL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for AGBL1 were set to 24094747
AGBL1 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen