| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.154 | HACD1 | Bryony Thompson Marked gene: HACD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.154 | HACD1 | Bryony Thompson Gene: hacd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.154 | HACD1 | Bryony Thompson Classified gene: HACD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.154 | HACD1 | Bryony Thompson Gene: hacd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | HACD1 |
Sangavi Sivagnanasundram 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 Added comment: 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 |
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