PanelApp (staging)
  1. Genes and Genomic Entities
  2. UBE2A

UBE2A

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green UBE2A in Mendeliome


Version 1.2302

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860)

Green UBE2A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

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

    Green UBE2A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860)

    Green UBE2A in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

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

    Red UBE2A in Fetal anomalies


    Version 1.313

    		2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860)

    Green UBE2A in Prepair 1000+


    Level 2: Screening
    Version 1.1566

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