Mitochondrial disease
Gene: RANBP2EnsemblGeneIds (GRCh38): ENSG00000153201
EnsemblGeneIds (GRCh37): ENSG00000153201
OMIM: 601181, Gene2Phenotype
RANBP2 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Not a mitochondrial condition, but significant overlap in clinical presentation, described as Leigh-like previously.
Sources: Expert ReviewCreated: 7 Dec 2023, 5:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
- OMIM
- 601181
- Clinvar variants
- Variants in RANBP2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ranbp2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ranbp2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RANBP2 was added gene: RANBP2 was added to Mitochondrial disease. Sources: Expert Review Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Review for gene: RANBP2 was set to GREEN