UBA5

ubiquitin like modifier activating enzyme 5
OMIM: 610552, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green UBA5 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 44, 617132

Red UBA5 in Fetal anomalies


Version 0.371

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Severe Infantile-Onset Encephalopathy

Green UBA5 in DDG2P


Version 1.179

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Severe Infantile-Onset Encephalopathy

Green UBA5 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 44, 617132

Green UBA5 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Expert Review Amber
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Epileptic encephalopathy, early infantile, 44, 617132
  • Intellectual disability

Green UBA5 in Hereditary ataxia - adult onset


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Early infantile epileptic encephalopathy 44, 617132
  • Autosomal recessive spinocerebellar ataxia 24, 617133