Bilateral congenital or childhood onset cataracts
Gene: P3H2
Seen in 3 unrelated familiesCreated: 2 Jun 2016, 1:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to expert review.Created: 2 Jun 2016, 1:52 p.m.
Not on the Manchester congenital cataracts gene panel. Not associated with a disease in Gene2phenotype. Associated with Myopia, high, with cataract and vitreoretinal degeneration in OMIM. 2 consanguineous families (Chinese and Isreali Bedouin) reported in OMIM.Created: 29 Apr 2016, 12:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for P3H2 were set to Guo et al (2014) Clin Genet 86:575-579 PMID: 24172257; Khan et al (2015) Ophthalmic Genet. 36: 58-63 PMID: 25469533; Mordechai et al (2011) Hum. Genet. 89: 438-445 PMID: 21885030
Mode of inheritance for P3H2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
LEPREL1* was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen