Possible mitochondrial disorder - nuclear genes
Gene: HADHBEnsemblGeneIds (GRCh38): ENSG00000138029
EnsemblGeneIds (GRCh37): ENSG00000138029
OMIM: 143450, Gene2Phenotype
HADHB is in 14 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 4 Dec 2024, 11:42 a.m. | Last Modified: 4 Dec 2024, 11:42 a.m.
Panel Version: 3.113
Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.Created: 8 Jan 2024, 11:37 a.m. | Last Modified: 8 Jan 2024, 11:37 a.m.
Panel Version: 3.73
HADHB encodes mitochondrial trifunctional protein beta subunit. As reviewed by Dmitrijs Rots, there are four unrelated patients reported with biallelic HADHB variants and episodic myopathy.
This gene has been associated with relevant phenotypes in OMIM (MIM #620300), but not in Gene2Phenotype.Created: 8 Jan 2024, 11:36 a.m. | Last Modified: 8 Jan 2024, 11:36 a.m.
Panel Version: 3.70
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial trifunctional protein deficiency 2, OMIM:620300
Publications
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trifunctional protein deficiency, 609015
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mitochondrial trifunctional protein deficiency 2, OMIM:620300
- OMIM
- 143450
- Clinvar variants
- Variants in HADHB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Fetal anomalies
- Hyperammonaemia
- Hereditary neuropathy
- Arthrogryposis
- Acute rhabdomyolysis
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: HADHB.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to HADHB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: hadhb has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 to Mitochondrial trifunctional protein deficiency 2, OMIM:620300
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: HADHB were set to
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: HADHB.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: HADHB was added gene: HADHB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015