Polymicrogyria and Schizencephaly
Gene: PAX6EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 20 panels
1 review
Lauren Akesson (Royal Melbourne Hospital)
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
- PMID: 12731001
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- 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
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Foveal Hypoplasia
- Glaucoma congenital
- Monogenic Diabetes
- BabyScreen+ newborn screening
- Congenital nystagmus
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Regression
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Eye Anterior Segment Abnormalities
- Cataract
- Polymicrogyria and Schizencephaly
- Callosome
- Ataxia - paediatric
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pax6 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PAX6 were changed from to ?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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PAX6 were set to
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pax6 has been classified as Amber List (Moderate Evidence).
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 Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: PAX6 was set to Unknown