This Panel is marked as Deleted
Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: ATAD3A
ATAD3A (ATPase family, AAA domain containing 3A)
EnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 17 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 612316
- Clinvar variants
- Variants in ATAD3A
- Penetrance
- None
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Intellectual disability
- Cerebellar hypoplasia
- Mitochondrial disorders
- Bilateral congenital or childhood onset cataracts
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Childhood onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hypertrophic cardiomyopathy
- Likely inborn error of metabolism
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)ATAD3A was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)ATAD3A was created by Sarah Leigh