Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: GRIP1

GRIP1 (glutamate receptor interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000155974
EnsemblGeneIds (GRCh37): ENSG00000155974
OMIM: 604597, Gene2Phenotype
GRIP1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Typical features include cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. At least 5 families reported.

'Mild' bi-allelic variants also postulated to cause isolated CAKUT, PMID 24700879.
Created: 30 Nov 2021, 2:46 a.m. | Last Modified: 30 Nov 2021, 2:46 a.m.

Panel Version: 0.92

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fraser syndrome 3 MIM#617667; CAKUT

Publications

Created: 30 Nov 2021, 2:46 a.m.
Last Modified: 30 Nov 2021, 2:46 a.m.
Panel version: 0.92

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association
Created: 30 Nov 2021, 12:08 a.m. | Last Modified: 30 Nov 2021, 12:08 a.m.

Panel Version: 0.9949

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fraser syndrome 3 MIM#617667

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Nov 2021, 12:08 a.m.
Last Modified: 30 Nov 2021, 12:08 a.m.
Panel version: Imported from Mendeliome panel version 0.9949

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Fraser syndrome 3 MIM#617667
CAKUT

OMIM

604597

Clinvar variants

Variants in GRIP1

Penetrance

None

Publications

Panels with this gene