Structural eye disease

Gene: WRAP73

Comment on list classification: Demoted from Amber to Red based on Expert review by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Created: 18 May 2022, 2:11 p.m. | Last Modified: 18 May 2022, 2:11 p.m.

Panel Version: 1.132

Red List (low evidence)

Madhangi et al. 2021 describe two families affected by isolated microspherophakia with a homozygous missense variant (het in parents in both families) which was shown to affect stability. Morpholino knowdown caused decreased eye and lens size which was rescued by WT but not mutant WRAP73. Quick analysis revealed that variant however has high allele frequency (MAF=0.004 on gnomAD) with homozygotes reported

Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.

Panel Version: 1.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 33693649

I don't know

Four individuals in two unrelated Indian families homozygous for missense variant c.1148C > T (p.Pro383Leu) in WRAP73 (old gene symbol WDR8) and reported to have Microspherophakia. Functional studies in Zebrafish showed knockout mutants and knockdown morphants exhibit decreased eye size. Amber rating as although functional evidence this is a new gene disease association with just one missense variant.
Sources: Literature

Created: 2 Jun 2021, 1:50 p.m. | Last Modified: 2 Jun 2021, 1:51 p.m.

Panel Version: 1.69

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microspherophakia

Publications

• PMID: 33693649