Glaucoma (developmental)
Gene: PITX2
many cases with anterior segment dysgenesis or Axenfeld-Rieger syndrome published. Missense variants have been reportedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Anterior segment dysgenesis 4 137600; Axenfeld-Rieger syndrome, type 1 180500
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). many cases with anterior segment dysgenesis or Axenfeld-Rieger syndrome published. Missense variants have been reportedCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Anterior segment dysgenesis 4 137600; Axenfeld-Rieger syndrome, type 1 180500
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Feedback from Arianna Tucci: glaucoma has been described as part of the syndrome, it can be green.Created: 26 Apr 2017, 8:58 a.m.
Comment on list classification: Enough evidence for Anterior segment dysgenesis 4 and
Axenfeld-Rieger syndrome - unsure whether these should be included on this panel.Created: 12 Apr 2017, 4:20 p.m.
Phenotypes
Axenfeld-Rieger syndrome, type 1, Anterior segment dysgenesis 4, Ring dermoid of cornea
Variants in this GENE are reported as part of current diagnostic practice
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PITX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Phenotypes for PITX2 were set to Anterior segment dysgenesis 4 137600; Axenfeld-Rieger syndrome, type 1 180500
This gene has been classified as Amber List (Moderate Evidence).
Publications for PITX2 were set to 8944018; 9685346;18723525;9618168;10051017;11487566
This gene has been classified as Amber List (Moderate Evidence).
PITX2 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory