Congenital muscular dystrophy and congenital myopathy
Gene: HACD1EnsemblGeneIds (GRCh38): ENSG00000165996
EnsemblGeneIds (GRCh37): ENSG00000165996
OMIM: 610467, Gene2Phenotype
HACD1 is in 3 panels
9 reviews
Eleanor Williams (Genomics England Curator)
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
Sarah Leigh (Genomics England Curator)
Tracy Lester (Genetics laboratory, Oxford UK)
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
Ivone Leong (Genomics England Curator)
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
Louise Daugherty (Genomics England Curator)
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.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Helen Brittain (Genomics England Curator)
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.
Anna Sarkozy (Great Ormond Street Hospital)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Expert Review Green
- Expert Review
- NHS GMS
- Phenotypes
-
- Myopathy, congenital, nonprogressive, OMIM:619967
- OMIM
- 610467
- Clinvar variants
- Variants in HACD1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: HACD1 was added gene: HACD1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review,Expert Review Green,London South GLH Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACD1 were set to 23933735; 15829503; 32426512; 33354762 Phenotypes for gene: HACD1 were set to Myopathy, congenital, nonprogressive, OMIM:619967 Penetrance for gene: HACD1 were set to Complete