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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. SLIT2
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: SLIT2

Amber List (moderate evidence)
SLIT2 (slit guidance ligand 2)
EnsemblGeneIds (GRCh38): ENSG00000145147
EnsemblGeneIds (GRCh37): ENSG00000145147
OMIM: 603746, Gene2Phenotype
SLIT2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three unrelated families reported, but note at least two of the variants inherited, one of them is present at reasonably high pop frequency. Some functional data, overall gene-disease association not firmly established.
Created: 24 Feb 2020, 10:49 p.m. | Last Modified: 24 Feb 2020, 10:49 p.m.
Panel Version: 0.64

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CAKUT

Publications

Created: 24 Feb 2020, 10:49 p.m.
Last Modified: 24 Feb 2020, 10:49 p.m.
Panel version: 0.64

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
OMIM
603746
Clinvar variants
Variants in SLIT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slit2 has been classified as Amber List (Moderate Evidence).

24 Feb 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLIT2 were changed from to CAKUT

24 Feb 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLIT2 were set to

24 Feb 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLIT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slit2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLIT2 was added gene: SLIT2 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: SLIT2 was set to Unknown