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Intellectual disability syndromic and non-syndromic

Gene: HADHB

Green List (high evidence)

HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000138029
EnsemblGeneIds (GRCh37): ENSG00000138029
OMIM: 143450, Gene2Phenotype
HADHB is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ID is part of the phenotype.
Created: 4 Dec 2019, 9:28 p.m. | Last Modified: 4 Dec 2019, 9:28 p.m.
Panel Version: 0.341

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trifunctional protein deficiency, MIM#609015

History Filter Activity

3 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: HADHB.

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hadhb has been classified as Green List (High Evidence).

4 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM#609015

4 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HADHB was added gene: HADHB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HADHB was set to Unknown