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  3. HACD1
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Muscular dystrophy and myopathy_Paediatric

Gene: HACD1

Green List (high evidence)
HACD1 (3-hydroxyacyl-CoA dehydratase 1)
EnsemblGeneIds (GRCh38): ENSG00000165996
EnsemblGeneIds (GRCh37): ENSG00000165996
OMIM: 610467, Gene2Phenotype
HACD1 is in 2 panels

4 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Age of onset - from birth to early childhood (typically) but is not progressive

PMID: 32426512; 27939133
Individual from consanguineous parents present with a LINE insertation mutation in HACD1 known to cause a form of centronuclear myopathy in dogs.
Developed myopathy features from the age of 4

PMID: 33354762
3 individuals from unrelated families with a homozygous mutation causative of congenital myopathy. Age of onset of symptoms varied between birth to early childhood in these patients. The symptoms showed that the disorder is not progressive and muscle weakness improves in late childhood.

PMID: 23933735
Large consanguineous family with 4 carrying a homozygous mutation in HACD1 causative of congenital myopathy.
Sources: Other
Created: 8 May 2023, 5:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 11 (MIM#619967; MONDO:0019952)

Publications

Created: 8 May 2023, 5:05 a.m.

Panel version: 0.128

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families and a mammalian model that recapitulates the phenotype.
Created: 6 Jul 2020, 7:03 a.m. | Last Modified: 6 Jul 2020, 7:03 a.m.
Panel Version: 0.248
Created: 6 Jul 2020, 7:03 a.m.
Last Modified: 6 Jul 2020, 7:03 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.248

Teresa Zhao (Victorian Clinical Genetics Services)

I don't know

Second consanguineous family reported with congenital myopathy (c.739_740delins1250).
Created: 6 Jul 2020, 6:51 a.m. | Last Modified: 6 Jul 2020, 6:51 a.m.
Panel Version: 0.247

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy

Publications

Created: 6 Jul 2020, 6:51 a.m.
Last Modified: 6 Jul 2020, 6:51 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.247

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single consanguineous family reported and a dog model with centronuclear myopathy .
Sources: Expert list
Created: 10 Feb 2020, 4:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy

Publications

Created: 10 Feb 2020, 4:45 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital myopathy 11 (MIM#619967
  • MONDO:0019952)
OMIM
610467
Clinvar variants
Variants in HACD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hacd1 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hacd1 has been classified as Green List (High Evidence).

8 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: HACD1 was added gene: HACD1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACD1 were set to 32426512; 27939133; 33354762; 23933735 Phenotypes for gene: HACD1 were set to Congenital myopathy 11 (MIM#619967; MONDO:0019952) Review for gene: HACD1 was set to GREEN