Bilateral congenital or childhood onset cataracts
Gene: PITX2Comment on list classification: Not associated with cataract.Created: 7 Jun 2016, 1:17 p.m.
Associated with Axenfeld-Reiger sysndrome, cataracts not usually described (1 member of a family in Xia et al, 2004). Mutations in PITX3 asociated with cataracts with ASD.Created: 25 May 2016, 8:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataracts
Publications
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. It is a confirmed gene for several disorders in G2P and associations in OMIM, though unsure whether these include a cataract phenotype.Created: 25 Apr 2016, 9:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Peters anomaly MIMID; Iridogoniodysgenesis type 2; Axenfeld-Rieger syndrome, type 1; Ring dermoid of cornea
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
PITX2 was added to Cataractspanel. Sources: UKGTN
PITX2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services