Undiagnosed metabolic disorders
Gene: ATAD3AEnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 17 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Changed MOI from 'Biallelic' to 'Both mono- and biallelic'.
At least 6 families with heterozygous variants (PMID: 27640307; 28158749) and 7 unrelated families with biallelic SNVs in this gene (PMID: 27640307; 29053797; 31727539; 32607449; 33845882). Metabolic evaluation often show elevated 3-methylglutaconate and lactate in patients with variants in this gene.Created: 6 Jul 2021, 9:41 a.m. | Last Modified: 6 Jul 2021, 9:41 a.m.
Panel Version: 1.465
Louise Daugherty (Genomics England Curator)
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
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)
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: LiteratureCreated: 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
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Harel-Yoon syndrome, OMIM:617183
- Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
- Lactic acidosis
- Methylglutaconic aciduria
- OMIM
- 612316
- Clinvar variants
- Variants in ATAD3A
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Mitochondrial disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Bilateral congenital or childhood onset cataracts
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary neuropathy or pain disorder
- DDG2P
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ATAD3A were set to 27640307
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATAD3A were changed from Lactic acidosis; Methylglutaconic aciduria; Neurological abnormalities; Cerebellar hypoplasia; Optic atrophy; Hypertrophic cardiomyopathy; Scoliosis; Spinal muscular atrophy to Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Lactic acidosis; Methylglutaconic aciduria
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATAD3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Removed Tag
Louise Daugherty (Genomics England Curator)Tag watchlist was removed from gene: ATAD3A.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: atad3a has been classified as Green List (High Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag watchlist tag was added to gene: ATAD3A.
Set mode of pathogenicity
Ivone Leong (Genomics England Curator)Mode of pathogenicity for gene: ATAD3A was changed from None to Other
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
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