Mitochondrial disorders
Gene: ATAD3A
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
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.
no reports of mutations in literatureCreated: 3 Feb 2016, 5:56 p.m.
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
Victorian Clinical Genetics Services was added to ATAD3A. Panel: Mitochondrial disorders
Mode of inheritance for ATAD3A was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for ATAD3A were set to Harel-Yoon syndrome 617183
Phenotypes for ATAD3A were set to 617183
Publications for ATAD3A were set to 27640307
Mode of inheritance for ATAD3A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for ATAD3A were set to No OMIM phenotype; Influence on AIDS progression
ATAD3A was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen