Congenital myopathy
Gene: HACD1
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
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
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
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Publications
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 familyCreated: 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.
variants were described in a single family in literature. no further confirmation to dateCreated: 30 May 2019, 4:52 p.m.
it is going to be added in the new diagnostic panelCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Phenotypes for gene: HACD1 were changed from congenital myopathy, MONDO:0019952 to Myopathy, congenital, nonprogressive, OMIM:619967
Tag Q2_21_rating was removed from gene: HACD1.
Source Expert Review Green was added to HACD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag watchlist was removed from gene: HACD1. Tag Q2_21_rating tag was added to gene: HACD1.
Phenotypes for gene: HACD1 were changed from congenital myopathy to congenital myopathy, MONDO:0019952
Publications for gene: HACD1 were set to 23933735; 15829503; 32426512; 33354762
Publications for gene: HACD1 were set to 23933735; 15829503; 32426512
Publications for gene: HACD1 were set to 23933735
Source NHS GMS was added to HACD1.
Source London South GLH was added to HACD1.
This gene has been classified as Amber List (Moderate Evidence).
Publications for HACD1 were set to 23933735
This gene has been classified as Amber List (Moderate Evidence).
HACD1 was created by anna.sarkozy
HACD1 was added to Congenital myopathypanel. Sources: Expert Review