Polymicrogyria and Schizencephaly
Gene: SIX3EnsemblGeneIds (GRCh38): ENSG00000138083
EnsemblGeneIds (GRCh37): ENSG00000138083
OMIM: 603714, Gene2Phenotype
SIX3 is in 12 panels
2 reviews
Seb Lunke (Victorian Clinical Genetics Services)
Comment on list classification: Missense variants too common in gnomAD. Left with one novel nonsense, insufficient evidence for association with schizencephaly at this stage.Created: 26 Aug 2020, 7:13 a.m. | Last Modified: 26 Aug 2020, 7:13 a.m.
Panel Version: 0.112
Paul De Fazio (Victorian Clinical Genetics Services)
Associated with holoprosencephaly and schizencephaly in OMIM.
Three individuals with different monoallelic variants and schizencephaly reported in PMID: 20157829. Two were missense variants (one has 329 hets and 1 hom in gnomAD, the other has 4 hets). The third variant was a nonsense variant. No other reports of schizencephaly are evident.Created: 26 Aug 2020, 4:20 a.m. | Last Modified: 26 Aug 2020, 4:20 a.m.
Panel Version: 0.97
Phenotypes
Schizencephaly (MIM#269160)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- OMIM
- 603714
- Clinvar variants
- Variants in SIX3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Holoprosencephaly and septo-optic dysplasia
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Polymicrogyria and Schizencephaly
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: six3 has been classified as Red List (Low Evidence).
Set mode of inheritance
Seb Lunke (Victorian Clinical Genetics Services)Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Seb Lunke (Victorian Clinical Genetics Services)Publications for gene: SIX3 were set to
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: six3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SIX3 was added gene: SIX3 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: SIX3 was set to Unknown