Mitochondrial disorders
Gene: ATAD3AEnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 17 panels
3 reviews
Richard Scott (Genomics England Curator)
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 evidenceCreated: 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 evidenceCreated: 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 evidenceCreated: 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)
no reports of mutations in literatureCreated: 3 Feb 2016, 5:56 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Harel-Yoon syndrome, OMIM:617183
- Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
- OMIM
- 612316
- Clinvar variants
- Variants in ATAD3A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome 617183 to Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to ATAD3A. Panel: Mitochondrial disorders
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for ATAD3A was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ATAD3A were set to Harel-Yoon syndrome 617183
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for ATAD3A were set to 617183
Set publications
Richard Scott (Genomics England Curator)Publications for ATAD3A were set to 27640307
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for ATAD3A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ATAD3A were set to No OMIM phenotype; Influence on AIDS progression
Added New Source
Ellen McDonagh (Genomics England Curator)ATAD3A was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen