Aniridia

Gene: PAX6

Green List (high evidence)

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

3 reviews

Jonathan Callaway (Wessex Regional Genetics Laboratory)

Green List (high evidence)

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)

Green List (high evidence)

Wessex panel
Created: 20 Mar 2019, 5:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aniridia 106210

Publications

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.

History Filter Activity

14 Apr 2021, Gel status: 3

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

14 Apr 2021, Gel status: 3

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

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PAX6 were changed from Aniridia 106210 to Aniridia, OMIM:106210

20 Mar 2019, Gel status: 4

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

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on list classification

4 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: pax6 has been classified as Green List (High Evidence).

3 Jan 2019, Gel status: 3

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)

3 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: pax6 has been classified as Green List (High Evidence).

3 Jan 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: PAX6 were set to 1302030; 8111379; 7951315

3 Jan 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: PAX6 were set to

3 Jan 2019, Gel status: 1

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