Structural eye disease
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
Source NHS GMS was added to PITX2. Mode of pathogenicity for gene PITX2 was changed from to Other - please provide details in the comments Added phenotypes Axenfeld-Rieger syndrome, type 1 180500; Anterior segment dysgenesis 4 137600 for gene: PITX2 Publications for gene PITX2 were changed from 9685346; 9618168; 10051017; 8944018; 18723525; 11487566 to 9685346; 18723525; 11487566; 9618168; 10051017; 8944018
gene: PITX2 was added gene: PITX2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITX2 were set to 9685346; 9618168; 10051017; 8944018; 18723525; 11487566 Phenotypes for gene: PITX2 were set to Anterior segment dysgenesis 4 137600; Axenfeld-Rieger syndrome, type 1 180500