BCKDHB

branched chain keto acid dehydrogenase E1 subunit beta
OMIM: 248611, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green BCKDHB in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Maple syrup urine disease, type Ib 248600
Green BCKDHB in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.440	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) Maple syrup urine disease, type Ib
Green BCKDHB in Inborn errors of metabolism Version 2.50 Signed off v.2.3 on 17 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Maple syrup urine disease, type Ib BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Red BCKDHB in Fetal anomalies Version 1.185 Signed off v.1.92 on 21 Aug 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MAPLE SYRUP URINE DISEASE
Green BCKDHB in DDG2P Version 2.18 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 MAPLE SYRUP URINE DISEASE 248600
Green BCKDHB in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Maple syrup urine disease, type Ib, 248600 Maple Syrup Urine Disease Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath
Green BCKDHB in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.274 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 Maple syrup urine disease, type Ib 248600
Green BCKDHB in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.740 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 Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Maple syrup urine disease, type Ib, 248600 MAPLE SYRUP URINE DISEASE
Amber BCKDHB in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS NHS GMS London North GLH Phenotypes Maple syrup urine disease, type Ib, 248600 Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath Maple Syrup Urine Disease
Red BCKDHB in Childhood onset dystonia or chorea or related movement disorder Version 1.74 Signed off v.1.58 on 6 Oct 2020	review	Not set	Sources Expert Review Red London North GLH
Green BCKDHB in Severe Paediatric Disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Maple syrup urine disease, type Ib, 248600