Sporadic aniridia
Gene: PAX6EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
3 reviews
Jonathan Callaway (Wessex Regional Genetics Laboratory)
Strong disease association with a variety of ocular disorders, especially aniridia. Diagnostic testing of PAX6 at the Wessex Regional Genetics Laboratory has identified a pathogenic variant in 140 of 500 index cases; the most common referral reason being aniridia.Created: 22 Mar 2019, 2:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aniridia
Variants in this GENE are reported as part of current diagnostic practice
Morag Shanks (Oxford Medical Genetics laboratory)
Wessex panelCreated: 20 Mar 2019, 5:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aniridia 106210
Publications
- 1302030
- 8111379
- 7951315
- 7666404
- 7550230
- 19876904
- 9931324
- 12552561
- 11826019?
- 11553050
- 17148041
- 17595013
- 17406642
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Loss of function or missense variants reported in this gene as causing Aniridia in more than 3 families (see publications).Created: 3 Jan 2019, 12:47 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Wessex and West Midlands GLH
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Aniridia, OMIM:106210
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- None
- Publications
- 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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PAX6 were set to 1302030; 8111379; 7951315; 7666404; 7550230; 19876904; 9931324; 12552561; 11826019; 11553050; 17148041; 17595013; 17406642; 32467297
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PAX6 were set to 1302030; 8111379; 7951315; 7666404; 7550230; 19876904; 9931324; 12552561; 11826019; 11553050; 17148041; 17595013; 17406642
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PAX6 were changed from Aniridia 106210 to Aniridia, OMIM:106210
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to PAX6. Added phenotypes Aniridia 106210 for gene: PAX6
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ellen McDonagh: Comment on list classification
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: pax6 has been classified as Green List (High Evidence).
Added New Source, Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source Radboud University Medical Center, Nijmegen was added to PAX6. Source Illumina TruGenome Clinical Sequencing Services was added to PAX6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: pax6 has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: PAX6 were set to 1302030; 8111379; 7951315
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: PAX6 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PAX6 was added gene: PAX6 was added to Aniridia. Sources: UKGTN Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX6 were set to Aniridia 106210