FBXO31

F-box protein 31
OMIM: 609102, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FBXO31 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral palsy, MONDO:0006497, FBXO31-related

Green FBXO31 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 45 (MIM#615979
  • Cerebral palsy, MONDO:0006497, FBXO31-related
  • Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant

Green FBXO31 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive 45, MIM#615979
  • Spastic-dystonic cerebral palsy, de novo dominant