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Congenital Heart Defect

Gene: INVS

Green List (high evidence)

INVS (inversin)
EnsemblGeneIds (GRCh38): ENSG00000119509
EnsemblGeneIds (GRCh37): ENSG00000119509
OMIM: 243305, Gene2Phenotype
INVS is in 13 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

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, 7:08 a.m. | Last Modified: 17 Mar 2021, 7:08 a.m.
Panel Version: 0.93

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 2, infantile, (MIM#602088)
OMIM
243305
Clinvar variants
Variants in INVS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: invs has been classified as Green List (High Evidence).

17 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)

17 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INVS were set to

17 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: INVS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

17 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INVS was added gene: INVS was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INVS was set to Unknown