CAKUT
Gene: SLIT2
SLIT2 (slit guidance ligand 2)
EnsemblGeneIds (GRCh38): ENSG00000145147
EnsemblGeneIds (GRCh37): ENSG00000145147
OMIM: 603746, Gene2Phenotype
SLIT2 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000145147
EnsemblGeneIds (GRCh37): ENSG00000145147
OMIM: 603746, Gene2Phenotype
SLIT2 is in 3 panels
3 reviews
Catherine Snow (Genomics England)
Comment on list classification: Gene identified as missing from panel by expert reviewer. Rating as Amber as gene disease only reported in PMID:26026792 no further evidence of this association and missing segregation information for some of the three individuals.Created: 21 May 2020, 10:52 a.m. | Last Modified: 21 May 2020, 10:52 a.m.
Panel Version: 1.126
Zornitza Stark (Australian Genomics)
Three unrelated individuals reported in this cohort.Created: 16 Jan 2020, 4:38 a.m. | Last Modified: 16 Jan 2020, 4:38 a.m.
Panel Version: 1.41
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT
Publications
Variants in this GENE are reported as part of current diagnostic practice
Helen Stuart (University of Manchester)
Details
- Sources
-
- Expert Review Amber
- Expert list
- OMIM
- 603746
- Clinvar variants
- Variants in SLIT2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
21 May 2020, Gel status: 2
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: slit2 has been classified as Amber List (Moderate Evidence).
21 May 2020, Gel status: 1
Set publications
Catherine Snow (Genomics England)Publications for gene: SLIT2 were set to
22 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
14 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SLIT2 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list