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  2. Anophthalmia_Microphthalmia_Coloboma
  3. SIX6
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Anophthalmia_Microphthalmia_Coloboma

Gene: SIX6

Green List (high evidence)
SIX6 (SIX homeobox 6)
EnsemblGeneIds (GRCh38): ENSG00000184302
EnsemblGeneIds (GRCh37): ENSG00000184302
OMIM: 606326, Gene2Phenotype
SIX6 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families and a dog model.
Created: 28 Dec 2020, 7:06 a.m. | Last Modified: 28 Dec 2020, 7:06 a.m.
Panel Version: 0.150

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550

Publications

Created: 28 Dec 2020, 7:06 a.m.
Last Modified: 28 Dec 2020, 7:06 a.m.
Panel version: 0.150

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550
OMIM
606326
Clinvar variants
Variants in SIX6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: six6 has been classified as Green List (High Evidence).

28 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SIX6 were changed from to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550

28 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SIX6 were set to

28 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SIX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SIX6 was added gene: SIX6 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SIX6 was set to Unknown