Glaucoma (developmental)

Gene: PITX2

Green List (high evidence)

many cases with anterior segment dysgenesis or Axenfeld-Rieger syndrome published. Missense variants have been reported

Created: 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

• 9685346
• 9618168
• 10051017
• 8944018
• 18723525
• 11487566

Mode of pathogenicity
Other - please provide details in the comments

Green List (high evidence)

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 reported

Created: 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

• 9685346
• 9618168
• 10051017
• 8944018
• 18723525
• 11487566

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.

I don't know

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