Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: PAX6

Green List (high evidence)

PAX6 (paired box 6)
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 20 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Variants in PAX6 cause a range of eye phenotypes.

Microphthalmia/coloboma-12 (MCOPCB12) is characterized by inter- and intrafamilial variability. In addition to microphthalmia and coloboma, other ocular anomalies include iris hypoplasia, aphakia or small lens, lens subluxation, congenital cataract, microcornea, and sclerocornea. Some patients also exhibit neurodevelopmental anomalies .
Created: 8 Sep 2024, 1:45 a.m. | Last Modified: 8 Sep 2024, 1:45 a.m.
Panel Version: 0.6188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia/coloboma 12, OMIM #120200

Publications

History Filter Activity

15 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX6 were changed from Microphthalmia/coloboma 12, OMIM #120200 to Microphthalmia/coloboma 12, OMIM #120200

15 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX6 were changed from to Microphthalmia/coloboma 12, OMIM #120200

15 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAX6 were set to

15 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX6 was added gene: PAX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX6 was set to Unknown