Likely inborn error of metabolism

Gene: ATAD3A

Comment on list classification: New gene added by external expert and reviewed by curation team and the clinical team: Sufficient evidence has been provided by the external expert review for this gene to be rated green.
Other aspects of the phenotype may warrant for this gene to be included on alternative specific panels (i.e. intellectual disability); however, not enough evidence is available at the moment. Therefore, this gene has also been added to the "watchlist" so that more cases can be collected.

Created: 18 Mar 2019, 3 p.m.

Comment on mode of pathogenicity: There is a recurrent missense variant thought to act in a dominant negative manner.

Created: 18 Mar 2019, 2:40 p.m.

Comment on mode of inheritance: As the carrier parents of the biallelic cases do not appear to have any phenotype, have given this a biallelic mode of inheritance.

Created: 18 Mar 2019, 2:38 p.m.

Green List (high evidence)

A raised plasma lactate was reported in 4/7 families and methylglutaconic aciduria in 3/7 families (PMID: 27640307). Multiple patients with a diagnosis are described as having "severe metabolic disease".
Sources: Literature

Created: 29 Jan 2019, 2:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Lactic acidosis; Methylglutaconic aciduria; Neurological abnormalities; Cerebellar hypoplasia; Optic atrophy; Hypertrophic cardiomyopathy; Scoliosis; Spinal muscular atrophy

Publications

• 27640307

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Comment on mode of inheritance: Report of multiple, recurrent de novo monoallelic mutations in PMID 27640307 - sufficient evidence for inclusion
One family reported with biallelic deletion (also in PMID 27640307) - await further evidence

Created: 23 Feb 2017, 5:39 p.m.

Comment on list classification: Report of multiple, recurrent de novo monoallelic mutations in PMID 27640307 - sufficient evidence for inclusion
One family reported with biallelic deletion (also in PMID 27640307) - await further evidence

Created: 23 Feb 2017, 5:39 p.m.

Report of multiple, recurrent de novo monoallelic mutations in PMID 27640307 - sufficient evidence for inclusion
One family reported with biallelic deletion (also in PMID 27640307) - await further evidence

Created: 23 Feb 2017, 5:39 p.m.

Phenotypes
617183

Publications

• 27640307

Comment when marking as ready: No evidence for association with a mitochondrial syndrome phenotype - remains on the red list.

Created: 26 Feb 2016, 12:25 p.m.

I don't know

no reports of mutations in literature

Created: 3 Feb 2016, 5:56 p.m.