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Mendeliome

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 with CAKUT and variants in this gene, 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. Association with corpus callosum abnormalities also postulated but appears to be based on animal model data only.
Created: 27 Feb 2020, 2:07 a.m. | Last Modified: 27 Feb 2020, 2:07 a.m.
Panel Version: 0.1450

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CAKUT

Publications

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

27 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).

27 Feb 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLIT2 were changed from to CAKUT

27 Feb 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLIT2 were set to

27 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

27 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLIT2 was set to Unknown