RANBP2

RAN binding protein 2
OMIM: 601181, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RANBP2 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • familial acute necrotizing encephalopathy MONDO:0011953

Green RANBP2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033

Green RANBP2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033

Green RANBP2 in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033

Red RANBP2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033