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  3. PITX3
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Structural eye disease

Gene: PITX3

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Rosemann: mutant mice have microphthalmia. Zazo Ceco: four families with anterior segment disorders and/or microphthalmia. Semina one case with anterior segment dysgenesis, other cases described, mainly anterior segment disorders
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anterior segment mesenchymal dysgenesis; Cataract 11, multiple types; 107250; 610623

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Rosemann: mutant mice have microphthalmia. Zazo Ceco: four families with anterior segment disorders and/or microphthalmia. Semina one case with anterior segment dysgenesis, other cases described, mainly anterior segment disorders
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anterior segment mesenchymal dysgenesis, 107250; Cataract 11, multiple types, 610623

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
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
OMIM
602669
Clinvar variants
Variants in PITX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PITX3. Source Expert Review Green was added to PITX3. Mode of inheritance for gene PITX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Anterior segment mesenchymal dysgenesis, 107250; Cataract 11, multiple types, 610623 for gene: PITX3 Publications for gene PITX3 were changed from to 29405783; 9620774; 20033184 Rating Changed from Red List (low evidence) to Green List (high evidence)

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PITX3 was added gene: PITX3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PITX3 was set to Phenotypes for gene: PITX3 were set to Eye Disorders