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Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PITX2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Anterior segment dysgenesis 4, 137600 (3) | Axenfeld-Rieger syndrome, type 1, 180500 (3) | Ring dermoid of cornea, 180550 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Axenfeld-Rieger syndrome, type 1, 180500
  • Anterior segment dysgenesis 4, 137600
  • Ring dermoid of cornea, 180550
OMIM
601542
Clinvar variants
Variants in PITX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PITX2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PITX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Anterior segment dysgenesis 4, 137600; Ring dermoid of cornea, 180550; Axenfeld-Rieger syndrome, type 1, 180500 for gene: PITX2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Anterior segment dysgenesis 4, 137600; Ring dermoid of cornea, 180550; Axenfeld-Rieger syndrome, type 1, 180500 for gene: PITX2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Anterior segment dysgenesis 4, 137600; Ring dermoid of cornea, 180550; Axenfeld-Rieger syndrome, type 1, 180500 for gene: PITX2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Axenfeld-Rieger syndrome, type 1, 180500; Ring dermoid of cornea, 180550; Anterior segment dysgenesis 4, 137600 for gene: PITX2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to PITX2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to PITX2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PITX2 was added gene: PITX2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PITX2 was set to