Glaucoma congenital
Gene: PITX2EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, glaucoma is a feature.Created: 8 Oct 2020, 3:12 a.m. | Last Modified: 8 Oct 2020, 3:12 a.m.
Panel Version: 0.60
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Axenfeld-Rieger syndrome, type 1, MIM# 180500
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Axenfeld-Rieger syndrome, type 1, MIM# 180500
- OMIM
- 601542
- Clinvar variants
- Variants in PITX2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pitx2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PITX2 were changed from to Axenfeld-Rieger syndrome, type 1, MIM# 180500
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PITX2 were set to
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
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 Glaucoma congenital_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PITX2 was set to Unknown