Hereditary ataxia with onset in adulthood
Gene: PAX6EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 19 Sep 2019, 1:12 p.m. | Last Modified: 19 Sep 2019, 1:12 p.m.
Panel Version: 1.198
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
OMIM associated phenotypes do not include ataxia or cerebellar malformations as phenotype. Very limited evidence in lit for Gillespie syndrome - predominant genetic cause for this is now accepted as de novo variation within ITPR1Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aniridia, 106210
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
- Phenotypes
-
- Aniridia, 106210
- Aniridia, Cerebellar Ataxia, And Mental Retardation
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- None
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Corneal abnormalities
- Monogenic diabetes
- Ocular coloboma
- Pituitary hormone deficiency
- Adult onset neurodegenerative disorder
- Structural eye disease
- Retinal disorders
- Sporadic aniridia
- Familial diabetes
- Childhood solid tumours
- Differences in sex development
- Glaucoma (developmental)
- Albinism or congenital nystagmus
- Fetal anomalies
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: pax6 has been classified as Red List (Low Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Aniridia, 106210 for gene: PAX6
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PAX6.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to PAX6.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PAX6 was added gene: PAX6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAX6 were set to Aniridia, Cerebellar Ataxia, And Mental Retardation