Neurotransmitter disorders
Gene: PITX3

PITX3 (paired like homeodomain 3)
EnsemblGeneIds (GRCh38): ENSG00000107859
EnsemblGeneIds (GRCh37): ENSG00000107859
OMIM: 602669, Gene2Phenotype
PITX3 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment 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, 107250
Created: 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.

Created: 25 May 2017, 2:27 p.m.

Panel version: 0.51

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 1 Mar 2017, 1:33 p.m.

Panel version: 0.16

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

Phenotypes

Disorders of Dopamine Synthesis Regulation

OMIM

602669

Clinvar variants

Variants in PITX3

Penetrance

Complete

Publications

Panels with this gene