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Intellectual disability syndromic and non-syndromic

Gene: RNF13

Green List (high evidence)

RNF13 (ring finger protein 13)
EnsemblGeneIds (GRCh38): ENSG00000082996
EnsemblGeneIds (GRCh37): ENSG00000082996
OMIM: 609247, Gene2Phenotype
RNF13 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals with de novo variants in this gene and severe neurological phenotype, including microcephaly, seizures, visual impairment, profound developmental delay.
Sources: Expert list
Created: 10 Mar 2020, 5:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 73 618379

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 73 618379
OMIM
609247
Clinvar variants
Variants in RNF13
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

10 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnf13 has been classified as Green List (High Evidence).

10 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnf13 has been classified as Green List (High Evidence).

10 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNF13 was added gene: RNF13 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNF13 were set to 30595371 Phenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73 618379 Mode of pathogenicity for gene: RNF13 was set to Other Review for gene: RNF13 was set to GREEN