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  3. PITX2
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Structural eye disease

Gene: PITX2

Green List (high evidence)
PITX2 (paired like homeodomain 2)
EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 16 panels

2 reviews

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

Green List (high evidence)

many cases with anterior segment dysgenesis or Axenfeld-Rieger syndrome published. Missense variants have been reported
Created: 19 Jun 2019, 3:32 p.m.

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

Phenotypes
Anterior segment dysgenesis 4 137600; Axenfeld-Rieger syndrome, type 1 180500

Publications

Mode of pathogenicity
Other - please provide details in the comments

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). many cases with anterior segment dysgenesis or Axenfeld-Rieger syndrome published. Missense variants have been reported
Created: 17 Apr 2019, 3:30 p.m.

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

Phenotypes
Anterior segment dysgenesis 4 137600; Axenfeld-Rieger syndrome, type 1 180500

Publications

Mode of pathogenicity
Other - please provide details in the comments

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

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

Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Axenfeld-Rieger syndrome, type 1 180500
  • Anterior segment dysgenesis 4 137600
OMIM
601542
Clinvar variants
Variants in PITX2
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PITX2. Mode of pathogenicity for gene PITX2 was changed from to Other - please provide details in the comments Added phenotypes Axenfeld-Rieger syndrome, type 1 180500; Anterior segment dysgenesis 4 137600 for gene: PITX2 Publications for gene PITX2 were changed from 9685346; 9618168; 10051017; 8944018; 18723525; 11487566 to 9685346; 18723525; 11487566; 9618168; 10051017; 8944018

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PITX2 was added gene: PITX2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITX2 were set to 9685346; 9618168; 10051017; 8944018; 18723525; 11487566 Phenotypes for gene: PITX2 were set to Anterior segment dysgenesis 4 137600; Axenfeld-Rieger syndrome, type 1 180500