UBE2A:Ensemblv115

ubiquitin conjugating enzyme E2 A
OMIM: 312180, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green UBE2A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860

Green UBE2A in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)

Green UBE2A in Prepair 1000+


Level 2: Screening
Version 3.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860