Motor Neurone Disease
Gene: RNF13EnsemblGeneIds (GRCh38): ENSG00000082996
EnsemblGeneIds (GRCh37): ENSG00000082996
OMIM: 609247, Gene2Phenotype
RNF13 is in 5 panels
2 reviews
Melanie Marty (Victorian Clinical Genetics Services)
3 x affected siblings with hom canonical splice variant. 2 x unaffected siblings het for the variant. RT-PCR showed expression of two mis-spliced forms of RNF13 mRNA (1 with a PTC and the other with an inframe del). Functional studies showed an absence of protein.
Sources: LiteratureCreated: 4 Aug 2022, 6:42 a.m. | Last Modified: 4 Aug 2022, 6:47 a.m.
Panel Version: 0.137
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis
Publications
- PMID: 35879052
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype.
Sources: LiteratureCreated: 2 Jan 2020, 11:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 73, MIM# 618379
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review Green
- Literature
- Phenotypes
-
- Amyotrophic lateral sclerosis
- OMIM
- 609247
- Clinvar variants
- Variants in RNF13
- Penetrance
- None
- Publications
-
- PMID: 35879052
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: rnf13 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: rnf13 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: rnf13 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Melanie Marty (Victorian Clinical Genetics Services)gene: RNF13 was added gene: RNF13 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: RNF13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF13 were set to PMID: 35879052 Phenotypes for gene: RNF13 were set to Amyotrophic lateral sclerosis Review for gene: RNF13 was set to AMBER