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DDG2P

Gene: RNF13

Amber List (moderate evidence)

RNF13 (ring finger protein 13)
EnsemblGeneIds (GRCh38): ENSG00000082996
EnsemblGeneIds (GRCh37): ENSG00000082996
OMIM: 609247, Gene2Phenotype
RNF13 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: activating. DDG2P mode of inheritance: monoallelic.
Created: 22 Apr 2019, 7:34 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive
OMIM
609247
Clinvar variants
Variants in RNF13
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

22 Apr 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: RNF13 was added gene: RNF13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF13 were set to 30595371 Phenotypes for gene: RNF13 were set to Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive Mode of pathogenicity for gene: RNF13 was set to Other - please provide details in the comments