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Intellectual disability

Gene: HADHB

Amber List (moderate evidence)

HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000138029
EnsemblGeneIds (GRCh37): ENSG00000138029
OMIM: 143450, Gene2Phenotype
HADHB is in 14 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Rating Amber following consultation with the clinical team, in view of the borderline ID phenotype. Cases are more likely to be recognised on the basis of the metabolic phenotype, for which this gene is Green already.
Created: 31 Jul 2020, 2:44 p.m. | Last Modified: 31 Jul 2020, 2:44 p.m.
Panel Version: 3.215
Variants cause a complex phenotype of mitochondrial trifunctional protein deficiency. ID-related phenotype only apparent in a few cases reported in the literature and aetiology in some indicates that this presentation may not be relevant to a diagnostic genetic panel:

PMID: 12754706 - Cognitive delay reported in one patient (P6) which appeared to be secondary to cardio-respiratory arrest during an infection.

PMID: 19699128 - One patient (P3) with mild mental retardation; and one (P4) with psychomotor delay but this was thought to be related to hypoxic encephalopathy resulting from cardiac arrest.
Created: 31 Jul 2020, 2:21 p.m. | Last Modified: 31 Jul 2020, 2:21 p.m.
Panel Version: 3.214

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trifunctional protein deficiency, 609015

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

ID is part of the phenotype.
Sources: Expert list
Created: 7 Feb 2020, 1:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trifunctional protein deficiency, MIM#609015

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

31 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: hadhb has been classified as Amber List (Moderate Evidence).

7 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: HADHB was added gene: HADHB was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, MIM#609015 Review for gene: HADHB was set to GREEN gene: HADHB was marked as current diagnostic