Renal ciliopathies

Gene: INVS

Green List (high evidence)

INVS (inversin)
EnsemblGeneIds (GRCh38): ENSG00000119509
EnsemblGeneIds (GRCh37): ENSG00000119509
OMIM: 243305, Gene2Phenotype
INVS is in 18 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Multiple case reports. Offered on GOS panel
Created: 19 Jan 2017, 3:01 p.m.

Details

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: INVS was added gene: INVS was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INVS were set to 12872123 Phenotypes for gene: INVS were set to Senior-Loken syndrome; Nephronophthisis 2, infantile, 602088; Nephronophthisis