Neurotransmitter disorders
Gene: PITX3Comment on phenotypes: It has been found in murine models that PITX3 activates the TH promoter and thus regulates dopamine production, and has been associated to Disorders of Dopamine Synthesis Regulation. Currently there is only evidence for the association with the eye disorder phenotype of Anterior segment dysgenesis 1, multiple subtypes, 107250Created: 25 May 2017, 2:32 p.m.
Comment on list classification: Currently not enough evidence to support gene to be Green rated for ND, this supports the Red review given by expert reviewer.Created: 25 May 2017, 2:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Red List (Low Evidence).
Publications for PITX3 were set to 22223473;21368136; 26392380; 25011953
Phenotypes for PITX3 were set to Disorders of Dopamine Synthesis Regulation
Phenotypes for PITX3 were set to Anterior segment dysgenesis 1, multiple subtypes, 107250
PITX3 was added to Neurotransmitter disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
PITX3 was created by Manju
PITX3 was added to Neurotransmitter disorderspanel. Sources: Literature