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Fetal anomalies

Gene: PAX6

Green List (high 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)

Green List (high evidence)

Variants in PAX6 cause a range of eye phenotypes.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Multiple families reported with coloboma.
Created: 27 Dec 2020, 11:18 p.m. | Last Modified: 27 Dec 2020, 11:18 p.m.
Panel Version: 0.121

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia; Coloboma, ocular, MIM# 120200

Publications

Created: 27 Dec 2020, 11:18 p.m.
Last Modified: 27 Dec 2020, 11:18 p.m.
Panel version: Imported from Anophthalmia_Microphthalmia_Coloboma panel version 0.121

Lauren Akesson (Royal Melbourne Hospital)

I don't know

Single original study reporting polymicrogyria in two related individuals with PAX6 variant.

PMID: 12731001 – 24 individuals with heterozygous PAX6 variants underwent brain MRI, with findings including:
- Absence of pineal gland in 13/24 with hypoplasia in 7/24
- Polymicrogyria in 2/24 (related individuals – mother and son)

I have been unable to identify any subsequent individuals with a PAX6 variant and polymicrogyria, although it is listed in Gene Reviews Polymicrogyria article as a monogenic cause.

PMID: 8213068 – animal model that may be supportive (unable to access full text)
Created: 22 May 2020, 7:08 a.m. | Last Modified: 22 May 2020, 7:08 a.m.
Panel Version: 0.63

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Coloboma of optic nerve MIM# 120430; ?Coloboma, ocular MIM# 120200; ?Morning glory disc anomaly MIM# 120430; Aniridia MIM# 106210; Anterior segment dysgenesis 5, multiple subtypes MIM# 604229; Cataract with late-onset corneal dystrophy MIM# 106210; Foveal hypoplasia 1 MIM# 136520; Keratitis MIM# 148190; Optic nerve hypoplasia MIM# 165550

Publications

Created: 22 May 2020, 7:08 a.m.
Last Modified: 22 May 2020, 7:08 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.63

History Filter Activity

24 Jan 2022, 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).

24 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX6 were changed from COLOBOMA OF OPTIC NERVE; FOVEAL HYPOPLASIA; ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY; PETERS ANOMALY; KERATITIS HEREDITARY; ANIRIDIA; BILATERAL OPTIC NERVE HYPOPLASIA to Microphthalmia; Coloboma, ocular, MIM# 120200

24 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAX6 were set to

24 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX6 were set to COLOBOMA OF OPTIC NERVE; FOVEAL HYPOPLASIA; ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY; PETERS ANOMALY; KERATITIS HEREDITARY; ANIRIDIA; BILATERAL OPTIC NERVE HYPOPLASIA