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Inborn errors of metabolism

Gene: ATAD3A

Green List (high evidence)

ATAD3A (ATPase family, AAA domain containing 3A)
EnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 10 panels

5 reviews

Ivone Leong (Genomics England Curator)

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.

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

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

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

Richard Scott (Genomics England Curator)

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

Ellen McDonagh (Genomics England Curator)

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.

Shamima Rahman (UCL Institute of Child Health)

I don't know

no reports of mutations in literature
Created: 3 Feb 2016, 5:56 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Harel-Yoon syndrome 617183
OMIM
612316
Clinvar variants
Variants in ATAD3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ATAD3A was added gene: ATAD3A was added to Inborn errors of metabolism. Sources: Expert Review Green 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 Harel-Yoon syndrome 617183