Possible mitochondrial disorder - nuclear genes
Gene: ATAD3A
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Harel-Yoon syndrome, 617183
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
gene: ATAD3A was added gene: ATAD3A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, 617183