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  3. SIX5
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Fetal anomalies

Gene: SIX5

Red List (low evidence)
SIX5 (SIX homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000177045
EnsemblGeneIds (GRCh37): ENSG00000177045
OMIM: 600963, Gene2Phenotype
SIX5 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Association between SIX5 variants and BOR is DISPUTED by ClinGen:

Association has been reported in at least 6 probands in 2 publications (17357085, 24429398), however the reported variants are high in frequency in population databases, have no evidence of pathogenicity, and/or an alternate cause of disease has later been reported (21280147). This gene-disease association is supported by protein interaction and biochemical function studies (14704431, 17357085, 11950062). While EYA1 and SIX1 gene inactivation in mice leads to ear and kidney abnormalities, two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668). In summary, there is convincing evidence disputing the association between SIX5 and autosomal dominant branchio-oto-renal syndrome.
Created: 1 Jan 2022, 10:11 a.m. | Last Modified: 1 Jan 2022, 10:11 a.m.
Panel Version: 0.1734

Phenotypes
Branchiootorenal syndrome 2, MIM#610896

Publications

Created: 1 Jan 2022, 10:11 a.m.
Last Modified: 1 Jan 2022, 10:11 a.m.
Panel version: 0.1734

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Well described gene disease association with cervical fistulas and hypoplastic/dysplastic kidneys in utero
Created: 31 Dec 2021, 5:28 a.m. | Last Modified: 31 Dec 2021, 5:28 a.m.
Panel Version: 0.1719

Phenotypes
Branchiootorenal syndrome 2, MIM#610896

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Dec 2021, 5:28 a.m.
Last Modified: 31 Dec 2021, 5:28 a.m.
Panel version: 0.1719

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Branchiootorenal syndrome 2, MIM#610896
Tags
disputed
OMIM
600963
Clinvar variants
Variants in SIX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jan 2022, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: SIX5.

1 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SIX5 were set to

1 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: six5 has been classified as Red List (Low Evidence).

31 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: six5 has been classified as Green List (High Evidence).

31 Dec 2021, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SIX5 were changed from BRANCHIOOTORENAL SYNDROME TYPE 2 to Branchiootorenal syndrome 2, MIM#610896

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: SIX5 was added gene: SIX5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2