Acute rhabdomyolysis
Gene: HADHB
HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000138029
EnsemblGeneIds (GRCh37): ENSG00000138029
OMIM: 143450, Gene2Phenotype
HADHB is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000138029
EnsemblGeneIds (GRCh37): ENSG00000138029
OMIM: 143450, Gene2Phenotype
HADHB is in 14 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Trifunctional protein deficiency, OMIM:609015
- OMIM
- 143450
- Clinvar variants
- Variants in HADHB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Hyperammonaemia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hereditary neuropathy
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: HADHB was added gene: HADHB was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHB were set to 25929793; 23868323 Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, OMIM:609015