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  2. Growth failure
  3. PITX2
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Growth failure

Gene: PITX2

Green List (high 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)

Green List (high evidence)

GH deficiency is a feature.
Created: 30 Aug 2021, 4:13 a.m. | Last Modified: 30 Aug 2021, 4:13 a.m.
Panel Version: 0.357

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Axenfeld-Rieger syndrome, type 1, MIM# 180500

Created: 30 Aug 2021, 4:13 a.m.
Last Modified: 30 Aug 2021, 4:13 a.m.
Panel version: 0.357

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Axenfeld-Rieger syndrome, type 1, MIM# 180500
OMIM
601542
Clinvar variants
Variants in PITX2
Penetrance
None
Panels with this gene

History Filter Activity

30 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pitx2 has been classified as Green List (High Evidence).

30 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PITX2 were changed from AXENFELD-RIEGER SYNDROME to Axenfeld-Rieger syndrome, type 1, MIM# 180500

30 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pitx2 has been classified as Green List (High Evidence).

19 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PITX2 was added gene: PITX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PITX2 were set to AXENFELD-RIEGER SYNDROME