FBXO28

F-box protein 28
OMIM: 609100, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FBXO28 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 100, MIM# 619777

Green FBXO28 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
  • Developmental and epileptic encephalopathy 100, MIM# 619777

Green FBXO28 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 Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 100, MIM# 619777

Green FBXO28 in Dystonia and Chorea


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 100, MIM# 619777

Green FBXO28 in Progressive Myoclonic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 100 , MIM#619777