Undiagnosed metabolic disordersGene: ATAD3A
As a result of watchlist tag audit the watchlist tag was removed from ATAD3A this is now a green gene with sufficient evidence/review. The gene is also now rated Green on the intellectual disability panel.
Created: 13 Jan 2020, 4:55 p.m. | Last Modified: 13 Jan 2020, 4:55 p.m.
Panel Version: 1.413
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.
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".
Created: 29 Jan 2019, 2:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lactic acidosis; Methylglutaconic aciduria; Neurological abnormalities; Cerebellar hypoplasia; Optic atrophy; Hypertrophic cardiomyopathy; Scoliosis; Spinal muscular atrophy
Variants in this GENE are reported as part of current diagnostic practice
Tag watchlist was removed from gene: ATAD3A.
Gene: atad3a has been classified as Green List (High Evidence).
Tag watchlist tag was added to gene: ATAD3A.
Mode of pathogenicity for gene: ATAD3A was changed from None to Other
Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
gene: ATAD3A was added gene: ATAD3A was added to Undiagnosed metabolic disorders. Sources: Literature Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307 Phenotypes for gene: ATAD3A were set to Lactic acidosis; Methylglutaconic aciduria; Neurological abnormalities; Cerebellar hypoplasia; Optic atrophy; Hypertrophic cardiomyopathy; Scoliosis; Spinal muscular atrophy Review for gene: ATAD3A was set to GREEN gene: ATAD3A was marked as current diagnostic