TEST Undiagnosed metabolic disorders
Gene: ATAD3A

ATAD3A (ATPase family, AAA domain containing 3A)
EnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 17 panels

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

OMIM

612316

Clinvar variants

Variants in ATAD3A

Penetrance

None

Publications

27640307

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

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: ATAD3A was added gene: ATAD3A was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307

TEST Undiagnosed metabolic disorders Gene: ATAD3A

0 reviews

Details

History Filter Activity

Created, Added New Source, Set mode of inheritance, Set publications

TEST Undiagnosed metabolic disorders
Gene: ATAD3A