Groopman et al 2019 - Genes with diagnostic variants
Gene: RERE

RERE (arginine-glutamic acid dipeptide repeats)
EnsemblGeneIds (GRCh38): ENSG00000142599
EnsemblGeneIds (GRCh37): ENSG00000142599
OMIM: 605226, Gene2Phenotype
RERE is in 5 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: RERE; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; OMIM phenotype MIM No.: 616975; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Expert review red
Literature

Phenotypes

Congenital or cystic renal disease
MIM 616975
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

OMIM

605226

Clinvar variants

Variants in RERE

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to RERE.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: RERE was added gene: RERE was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RERE were set to Congenital or cystic renal disease; MIM 616975; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

Groopman et al 2019 - Genes with diagnostic variants Gene: RERE