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  2. Corneal Dystrophy
  3. PITX2
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Corneal Dystrophy

Gene: PITX2

Red List (low evidence)
PITX2 (paired like homeodomain 2)
EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Anterior dysgenesis rather than corneal dystrophy.
Created: 27 Jul 2020, 8:52 a.m. | Last Modified: 27 Jul 2020, 8:52 a.m.
Panel Version: 0.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anterior segment dysgenesis 4, MIM# 137600

Created: 27 Jul 2020, 8:52 a.m.
Last Modified: 27 Jul 2020, 8:52 a.m.
Panel version: 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 4, MIM# 137600
OMIM
601542
Clinvar variants
Variants in PITX2
Penetrance
None
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pitx2 has been classified as Red List (Low Evidence).

27 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PITX2 were changed from to Anterior segment dysgenesis 4, MIM# 137600

27 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PITX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pitx2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PITX2 was added gene: PITX2 was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PITX2 was set to Unknown