Sporadic aniridia

Gene: PITX2

Amber List (moderate evidence)

PITX2 (paired like homeodomain 2)
EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 17 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

I don't know

PMID 27124303:Telomeric deletion in pt with aniridia.
Created: 20 Mar 2019, 5:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

History Filter Activity

3 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PITX2 were changed from to Aniridia, MONDO:0019172

20 Mar 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PITX2 were set to

20 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PITX2 was added gene: PITX2 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Amber Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted