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Intellectual disability


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

1 review

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

Trifunctional protein deficiency, MIM#609015

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

History Filter Activity

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