CAKUT

Gene: ISL1

Red List (low evidence)

ISL1 (ISL LIM homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000016082
EnsemblGeneIds (GRCh37): ENSG00000016082
OMIM: 600366, Gene2Phenotype
ISL1 is in 1 panel

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

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: Literature
Created: 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