Differences in sex development
Gene: PAX6
PAX6 (paired box 6)
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Phenotypes associated with this gene in OMIM and G2P / DD are not relevant to this panel.Created: 13 Sep 2016, 1:49 p.m.
Comment on phenotypes: Also associated with Morning glory disc anomaly, Coloboma of optic nerve 120430, Aniridia, Cataract with late-onset corneal dystrophy 106210, Foveal hypoplasia 1 136520, Keratitis 148190, Optic nerve hypoplasia 165550 and Peters anomaly 604229Created: 13 Sep 2016, 1:47 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Not relevant to this panel
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Ocular coloboma
- Intellectual disability
- Differences in sex development
- Corneal abnormalities
- Familial diabetes
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Sporadic aniridia
- Childhood solid tumours
- Albinism or congenital nystagmus
- Structural eye disease
- Hereditary ataxia
- Fetal anomalies
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
21 Dec 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
13 Sep 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 Sep 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 Sep 2016, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PAX6 were set to Not relevant to this panel
20 May 2016, Gel status: 3
Added New Source
Sarah Leigh (Genomics England Curator)PAX6 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
20 May 2016, Gel status: 2
Added New Source
Sarah Leigh (Genomics England Curator)PAX6 was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
20 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)PAX6 was created by sleigh
20 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)PAX6 was added to Disorders of sex developmentpanel. Sources: UKGTN