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  3. HACD1
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Fetal anomalies

Gene: HACD1

Red List (low evidence)
HACD1 (3-hydroxyacyl-CoA dehydratase 1)
EnsemblGeneIds (GRCh38): ENSG00000165996
EnsemblGeneIds (GRCh37): ENSG00000165996
OMIM: 610467, Gene2Phenotype
HACD1 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Congenital myopathy with improvement with age. Could in theory present with arthrogryposis/polyhydramnios however large family reported to have normal pregnancies with no polyhydramnios & normal fetal movements. No hits for Pubmed search of HACD1 AND arthrogryposis or HACD1 AND contractures.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 11, OMIM:619967

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Congenital myopathy 11, OMIM:619967
OMIM
610467
Clinvar variants
Variants in HACD1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Congenital myopathy 11, OMIM:619967 for gene: HACD1

9 Mar 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: HACD1 was added gene: HACD1 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal