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Gene: ATAD3A

Amber List (moderate evidence)

ATAD3A (ATPase family, AAA domain containing 3A)
EnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 14 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

Added new gene as Amber for now, but should be promoted to Green (as there is enough evidence for it to be a Green gene) at the next major review.

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 hypertrophic cardiomyopathy (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: 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: Literature
Created: 24 Aug 2020, 3:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Harel-Yoon syndrome, 617183


History Filter Activity

24 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: atad3a has been classified as Amber List (Moderate Evidence).

24 Aug 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ATAD3A was added gene: ATAD3A was added to Cataracts. Sources: Literature for-review tags were added to gene: ATAD3A. Mode of inheritance for gene: ATAD3A was set to 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