Bilateral congenital or childhood onset cataracts

Gene: FOSL2

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:19 p.m. | Last Modified: 24 Feb 2025, 5:19 p.m.

Panel Version: 6.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.

Created: 3 Oct 2024, 2:57 p.m. | Last Modified: 3 Oct 2024, 2:57 p.m.

Panel Version: 5.6

PMID:36197437 reported 11 individuals from 10 unrelated families with heterozygous PTC variants (4 frameshift and 3 nonsense) in the last exon of FOSL2 gene. They all had a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts.

Five individuals had cataracts, mostly bilateral, either congenital or diagnosed during early childhood.

This gene has been associated with relevant phenotypes in both OMIM (MIM #620789) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature

Created: 3 Oct 2024, 2:50 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aplasia cutis-enamel dysplasia syndrome, OMIM:620789

Publications

• 36197437