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BabyScreen+ newborn screening

Gene: PAX6

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Treatment is symptomatic.

For review.
Created: 2 Nov 2022, 8:09 a.m. | Last Modified: 2 Nov 2022, 8:09 a.m.
Panel Version: 0.747

David Amor (Murdoch Children's Research Institute)

I don't know

Gene-disease association: strong. Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable

Severity: moderate-severe

Age of onset: congenital

Non-molecular confirmatory testing: yes, clinical exam

Treatment: various, according to exact type of ocular abnomality. Correction of refractive errors, glaucoma Rx, occasionally surgery

Suggest exclude as abnormalities requiring Rx likely to be detected clinically.
Created: 2 Nov 2022, 12:31 a.m. | Last Modified: 2 Nov 2022, 12:31 a.m.
Panel Version: 0.719

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aniridia, OMIM 106210

History Filter Activity

9 Nov 2022, Gel status: 1

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: PAX6.

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax6 has been classified as Red List (Low Evidence).

2 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax6 has been classified as Red List (Low Evidence).

2 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: PAX6.

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX6 was added gene: PAX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX6 were set to Aniridia