Congenital myopathy

Gene: HACD1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 5:10 p.m. | Last Modified: 1 Feb 2023, 5:10 p.m.

Panel Version: 3.14

Green List (high evidence)

Green List (high evidence)

Three publications showing 5 independent cases with a similar phenotype of congenital myopathy and homozygous variants in this gene. Also a homozygous labrador that shows myopathy. There is now sufficient evidence to rate this as green in regards to myopathy and hypotonia.

Created: 21 Jun 2022, 1:23 p.m. | Last Modified: 21 Jun 2022, 1:23 p.m.

Panel Version: 2.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotonia; muscle weakness; motor delay

Publications

• 15829503
• 23933735
• 32426512
• 33354762

Green List (high evidence)

This gene is associated with a relevant phenotype in Gene2Phenotype and not OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

Created: 30 Jun 2021, 2:17 p.m. | Last Modified: 30 Jun 2021, 2:17 p.m.

Panel Version: 2.43

Comment on publications: PMID: 33354762. Three additional cases.

Created: 30 Jun 2021, 2:15 p.m. | Last Modified: 30 Jun 2021, 2:15 p.m.

Panel Version: 2.42

Green List (high evidence)

Two unrelated families and a dog model.

Created: 6 Jul 2020, 7:50 a.m. | Last Modified: 6 Jul 2020, 7:50 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy

Publications

• 15829503
• 23933735
• 32426512

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.

Created: 30 Apr 2019, 10:09 a.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy

Publications

• 23933735

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

Comment when marking as ready: Reviewer contacted to see if they have further cases, amber and watchlist on current evidence.

Created: 7 Mar 2017, 2:52 p.m.

Comment on publications: Only one family

Created: 7 Mar 2017, 2:51 p.m.

Comment on list classification: 1 family in PMID 23933735. Reviewer contacted to see if they have further cases, amber and watchlist on current evidence.

Created: 7 Mar 2017, 2:51 p.m.

I don't know

variants were described in a single family in literature. no further confirmation to date

Created: 30 May 2019, 4:52 p.m.

it is going to be added in the new diagnostic panel

Created: 6 Mar 2017, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy