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Undiagnosed metabolic disorders

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

2 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lactic acidosis
  • Methylglutaconic aciduria
  • Neurological abnormalities
  • Cerebellar hypoplasia
  • Optic atrophy
  • Hypertrophic cardiomyopathy
  • Scoliosis
  • Spinal muscular atrophy
Tags
watchlist
OMIM
612316
Clinvar variants
Variants in ATAD3A
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

18 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: atad3a has been classified as Green List (High Evidence).

18 Mar 2019, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: ATAD3A.

18 Mar 2019, Gel status: 0

Set mode of pathogenicity

Ivone Leong (Genomics England Curator)

Mode of pathogenicity for gene: ATAD3A was changed from None to Other

18 Mar 2019, Gel status: 0

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2019, Gel status: 0

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

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

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