UBE2A

ubiquitin conjugating enzyme E2 A
OMIM: 312180
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION 319562
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Nascimento-type
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Nascimento-type, 300860, UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION