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Retinal disorders

Gene: PAX6

Red List (low evidence)

PAX6 (paired box 6)
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 23 panels

2 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

PAX6 is kept as a red gene after discussion and advise from Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital): “PAX6 is a developmental eye disease gene - this can manifest as foveal hypoplasia, which while not a retinal dystrophy, PAX6 may only be apparent in the posterior segment in some cases. Perhaps best left off the retina panel.”
Created: 30 Aug 2019, 2:43 p.m. | Last Modified: 30 Aug 2019, 2:43 p.m.
Panel Version: 1.159

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PAX6.

24 Mar 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene PAX6 were set to Foveal Hypoplasia and Presenile Cataract Syndrome; Developmental macular and foveal dystrophy (foveal hypoplasia in the context of aniridia)

24 Mar 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

PAX6 was added to Posterior segment abnormalitiespanel. Sources: Eligibility statement prior genetic testing

9 Mar 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PAX6 was created by ellenmcdonagh