Bilateral congenital or childhood onset cataracts
Gene: FBN1
In a family with apparently autosomal dominant Weill-Marchesani syndrome, PMID:12525539 reported a 24bp in frame deletion with cosegregated with disease. This is currently insufficient evidence for disease association.Created: 19 Feb 2019, 10:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
WEILL-MARCHESANI SYNDROME 2
Publications
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: After feedback from reviewer, it was decided this should be demoted to red as this is a cataract-only panel.Created: 14 Jun 2016, 1:05 p.m.
Comment on list classification: Promoted to green due to expert review and evidence provided.Created: 31 May 2016, 9:28 a.m.
Is on the Manchester congenital cataracts gene panel. Confirmed DD gene for Marfan syndrome and a possible DD gene for Weill-Marchesani syndrome (include cataract as a phenotype).Created: 29 Apr 2016, 11:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Publications for FBN1 were set to Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633; Li et al (2004) Mol Vis 20:1017
Mode of inheritance for FBN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for FBN1 were set to congenital ectopia lentis; Marfan syndrome; Weill-Marchesani syndrome
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
FBN1 was added to Cataractspanel. Sources: UKGTN