Muscular dystrophy and myopathy_Paediatric
Gene: HACD1
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: OtherCreated: 8 May 2023, 5:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 11 (MIM#619967; MONDO:0019952)
Publications
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
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
A single consanguineous family reported and a dog model with centronuclear myopathy .
Sources: Expert listCreated: 10 Feb 2020, 4:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy
Publications
Gene: hacd1 has been classified as Green List (High Evidence).
Gene: hacd1 has been classified as Green List (High Evidence).
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