Hereditary neuropathy or pain disorder
Gene: ATAD3AEnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 17 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
ATAD3A variants have been associated with Harel-Yoon syndrome, OMIM:617183. The de novo occurrence of rs1057517686 has been reported in five unrelated cases of OMIM:617183. and there two members of an Italian family were homozygous for variant rs1057517687 (PMID: 27640307)Created: 4 Nov 2024, 11:26 a.m. | Last Modified: 4 Nov 2024, 11:26 a.m.
Panel Version: 6.20
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Harel-Yoon syndrome, OMIM:617183; Harel-Yoon syndrome, MONDO:0014958
Publications
Alexander Rossor (UCL Institute of Neurology)
Both de novo and recessive. Multiple unrelated indivudals reported with axonal neuropathy
Sources: Expert listCreated: 15 Oct 2024, 10:24 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
global developmental delay; hypotonia; optic atrophy; axonal neuropathy; hypertrophic cardiomyopathy
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Harel-Yoon syndrome, OMIM:617183
- Harel-Yoon syndrome, MONDO:0014958
- OMIM
- 612316
- Clinvar variants
- Variants in ATAD3A
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Undiagnosed metabolic disorders
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Optic neuropathy
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Intellectual disability
- Hypertrophic cardiomyopathy
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: ATAD3A. Tag Q3_24_NHS_review was removed from gene: ATAD3A.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to ATAD3A. Source Expert Review Green was added to ATAD3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ATAD3A were changed from global developmental delay; hypotonia; optic atrophy; axonal neuropathy; hypertrophic cardiomyopathy to Harel-Yoon syndrome, OMIM:617183; Harel-Yoon syndrome, MONDO:0014958
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: ATAD3A. Tag Q3_24_NHS_review tag was added to gene: ATAD3A.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: atad3a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Alexander Rossor (UCL Institute of Neurology)gene: ATAD3A was added gene: ATAD3A was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307 Phenotypes for gene: ATAD3A were set to global developmental delay; hypotonia; optic atrophy; axonal neuropathy; hypertrophic cardiomyopathy Penetrance for gene: ATAD3A were set to Complete Mode of pathogenicity for gene: ATAD3A was set to Other Review for gene: ATAD3A was set to GREEN