Syndromic Retinopathy
Gene: INVSEnsemblGeneIds (GRCh38): ENSG00000119509
EnsemblGeneIds (GRCh37): ENSG00000119509
OMIM: 243305, Gene2Phenotype
INVS is in 13 panels
2 reviews
Paul De Fazio (Victorian Clinical Genetics Services)
17 patients with nephronophthisis summarised in PMID:19177160. Median age at diagnosis 11 months. End stage renal disease developed in all but 2 at 2 years of age. Hypertension was a consistent finding. Hypperechogenic kidneys were present in all but 1 case. Kidney size was variable. Cysts were detected in 5/15 patients.
Extra renal manifestations were found in 12/17 patients - heart valve or septal defects (5), hepatic involvement (4), recurrent bronchial infections (4), dev delay (2), situs inversus (2).Created: 17 Mar 2021, 7:02 a.m. | Last Modified: 17 Mar 2021, 7:02 a.m.
Panel Version: 0.6755
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 2, infantile, (MIM#602088)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established ciliopathy gene but limited reports of retinal phenotype.Created: 12 Oct 2020, 1:32 a.m. | Last Modified: 12 Oct 2020, 1:32 a.m.
Panel Version: 0.113
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 2, infantile, MIM# 602088
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- RetNet
- Phenotypes
-
- Nephronophthisis 2, infantile, MIM#602088
- OMIM
- 243305
- Clinvar variants
- Variants in INVS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: invs has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: INVS were changed from Nephronophthisis 2, infantile to Nephronophthisis 2, infantile, MIM#602088
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: INVS were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: invs has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: INVS was added gene: INVS was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile