Groopman et al 2019 - Genes with diagnostic variants

Gene: RERE

Red List (low evidence)

RERE (arginine-glutamic acid dipeptide repeats)
EnsemblGeneIds (GRCh38): ENSG00000142599
EnsemblGeneIds (GRCh37): ENSG00000142599
OMIM: 605226, Gene2Phenotype
RERE is in 7 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

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