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  3. SIX3
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Fetal anomalies

Gene: SIX3

Green List (high evidence)
SIX3 (SIX homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000138083
EnsemblGeneIds (GRCh37): ENSG00000138083
OMIM: 603714, Gene2Phenotype
SIX3 is in 12 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Microphthalmia and coloboma reported as part of the spectrum.
Created: 28 Dec 2020, 6:59 a.m. | Last Modified: 28 Dec 2020, 6:59 a.m.
Panel Version: 0.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 2, MIM# 157170

Publications

Created: 28 Dec 2020, 6:59 a.m.
Last Modified: 28 Dec 2020, 6:59 a.m.
Panel version: Imported from Anophthalmia_Microphthalmia_Coloboma panel version 0.147

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
Created: 26 Aug 2020, 7:13 a.m.
Last Modified: 26 Aug 2020, 7:13 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.112

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

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

Created: 26 Aug 2020, 4:20 a.m.
Last Modified: 26 Aug 2020, 4:20 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.97

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Holoprosencephaly 2, MIM# 157170
  • Schizencephaly (MIM#269160)
OMIM
603714
Clinvar variants
Variants in SIX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: six3 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SIX3 were changed from HOLOPROSENCEPHALY to Holoprosencephaly 2, MIM# 157170; Schizencephaly (MIM#269160)

28 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SIX3 were set to

28 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SIX3 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: SIX3 was added gene: SIX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY