Bilateral congenital or childhood onset cataracts

Gene: FBN1

Red List (low evidence)

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

• 12525539

Green List (high evidence)

Publications

• Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633
• Li et al (2004) Mol Vis 20:1017

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

Green List (high evidence)

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