UBA5

ubiquitin like modifier activating enzyme 5
OMIM: 610552, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green UBA5 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.11 Signed off v.2.2 on 2 Mar 2020	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 1.73 Signed off v.1.2 on 17 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Severe Infantile-Onset Encephalopathy
Green UBA5 in DDG2P Version 2.8 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	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 2.119 Signed off v.2.2 on 13 Feb 2020	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 3.160 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	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 2.8 Signed off v.2.7 on 10 Mar 2020	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
Green UBA5 in Severe Paediatric Disorders Version 1.6	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 44, 617132 ?Spinocerebellar ataxia, autosomal recessive 24, 617133