CAKUT
Gene: ISL1
ISL1 (ISL LIM homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000016082
EnsemblGeneIds (GRCh37): ENSG00000016082
OMIM: 600366, Gene2Phenotype
ISL1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000016082
EnsemblGeneIds (GRCh37): ENSG00000016082
OMIM: 600366, Gene2Phenotype
ISL1 is in 2 panels
1 review
Rebecca Foulger (Genomics England curator)
Added ISL1 to panel as a Red gene, based on PMID:23641053 which show that conditional deletion of Isl1 in mice caused kidney agenesis or hypoplasia and hydroureter, a phenotype resembling human congenital anomalies of the kidney and urinary tract (CAKUT). No further literature evidence at this time to increase rating.
Sources: LiteratureCreated: 30 Mar 2020, 4:51 p.m.
Mode of inheritance
Unknown
Phenotypes
CAKUT
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Literature
- Phenotypes
-
- CAKUT
- OMIM
- 600366
- Clinvar variants
- Variants in ISL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
30 Mar 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ISL1 was added gene: ISL1 was added to CAKUT. Sources: Literature Mode of inheritance for gene: ISL1 was set to Unknown Publications for gene: ISL1 were set to 23641053 Phenotypes for gene: ISL1 were set to CAKUT Review for gene: ISL1 was set to RED