Hypertrophic cardiomyopathy
Gene: ATAD3A
Added new gene as Amber based on the available literature. As not every patient with a monoallelic/biallelic variant in this gene presented with HCM, this gene has been rated Amber until further evidence is available.
PMID: 27640307 describes 5 patients from 5 unrelated families with the same de novo variant (c.1582 C>T, R528W). 3/5 patients have optic atrophy and 2/5 have HCM. The authors have suggested that R528W exerts a dominant negative effect.
Three patients from 2 additional families have biallelic variants (1 compound heterozygous and 1 biallelic deletion of ATAD3B and ATAD3A). These 3 patients did not have optic atrophy nor HCM, but had congenital cataracts.
PMID: 28158749 describes a family with monoallelic variant (c.1064 G>A, G355D) where affected mother and son do not have optic atrophy nor HCM but have hereditary spastic paraplegia.
PMID: 31727539 describes a consanguineous family with 4 affected individuals with biallelic variant (c.1217T>G, L406R). 3/4 had congenital cataracts and 4/4 had HCM. No one had optic atrophy.
Sources: LiteratureCreated: 24 Aug 2020, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Harel-Yoon syndrome, 617183
Publications
Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, 617183 to Harel-Yoon syndrome, OMIM:617183
Gene: atad3a has been classified as Amber List (Moderate Evidence).
gene: ATAD3A was added gene: ATAD3A was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Literature watchlist tags were added to gene: ATAD3A. Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307; 28652416; 28158749; 31727539 Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, 617183 Review for gene: ATAD3A was set to AMBER