PITX3

paired like homeodomain 3
OMIM: 602669, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red PITX3 in Neurotransmitter disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Phenotypes Disorders of Dopamine Synthesis Regulation
Red PITX3 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources Expert Review Green NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green PITX3 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Cataract posterior polar 4 Anterior segment mesenchymal dysgenesis cataract autosomal dominant cataract posterior polar type 4 (CTPP4) Cataract 11, multiple types Cataract 11, syndromic
Green PITX3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS CATARACT POSTERIOR POLAR TYPE 4 CATARACT AUTOSOMAL DOMINANT
Green PITX3 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT AUTOSOMAL DOMINANT 604219 CATARACT POSTERIOR POLAR TYPE 4 610623 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250
Red PITX3 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	Not set	Sources Emory Genetics Laboratory
Red PITX3 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Cataract 11, multiple types, 610623 Cataract 11, syndromic, 610623
Red PITX3 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Green PITX3 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Cataract 11, multiple types, 610623 Eye Disorders
Red PITX3 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH Phenotypes Disorders of Dopamine Synthesis Regulation