Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: SIX2

Red List (low evidence)

SIX2 (SIX homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000170577
EnsemblGeneIds (GRCh37): ENSG00000170577
OMIM: 604994, Gene2Phenotype
SIX2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family.
Created: 16 Jan 2020, 4:37 a.m. | Last Modified: 16 Jan 2020, 4:37 a.m.
Panel Version: 0.33

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CAKUT, MONDO:0019719, SIX2-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT, MONDO:0019719, SIX2-related
OMIM
604994
Clinvar variants
Variants in SIX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2025, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SIX2 were changed from CAKUT to CAKUT, MONDO:0019719, SIX2-related

16 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SIX2 were set to 24429398

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: six2 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SIX2 were set to

16 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SIX2 were changed from to CAKUT

16 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SIX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: six2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SIX2 was added gene: SIX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SIX2 was set to Unknown