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DDG2P

Gene: SIX5

Green List (high evidence)
SIX5 (SIX homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000177045
EnsemblGeneIds (GRCh37): ENSG00000177045
OMIM: 600963, Gene2Phenotype
SIX5 is in 11 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Note:
This gene-disease association has been rated as 'DISPUTED' by ClinGen (https://search.clinicalgenome.org/CCID:006145) Multiple families reported but 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). Two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668) which are typical of branchio-oto-renal syndrome.

as this panel reflects what is in the DDG2P database the rating has not been changed from green at this time.
Created: 22 Oct 2025, 11:44 p.m. | Last Modified: 22 Oct 2025, 11:44 p.m.
Panel Version: 6.8
Created: 22 Oct 2025, 11:44 p.m.
Last Modified: 22 Oct 2025, 11:44 p.m.
Panel version: 6.8

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SIX5-related branchiootorenal syndrome are definitive, monoallelic_autosomal and undetermined (PMID:17357085). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00803.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease BRANCHIOOTORENAL SYNDROME TYPE 2, OMIM:610896 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:17357085).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
BRANCHIOOTORENAL SYNDROME TYPE 2, OMIM:610896; OMIM:610896.0; SIX5-related branchiootorenal syndrome; MONDO:0012575

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRANCHIOOTORENAL SYNDROME TYPE 2 610896
OMIM
600963
Clinvar variants
Variants in SIX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SIX5 was changed from None to None

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SIX5 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene SIX5 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: SIX5 was added gene: SIX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX5 were set to 17357085 Phenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2 610896 Mode of pathogenicity for gene: SIX5 was set to Other - please provide details in the comments