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DMPK_CTG 4

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DDG2P
Gene: ATAD3A

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27640307). The DDG2P confidence category for the disease ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 32004445;27640307).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Eleanor Williams (Genomics England Curator)

This gene has the MOI of 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' on the Intellectual disability panel (ID 285) and therefore this MOI will be covered in Paediatric disorders super panel. The DDG2P panel will shortly be updated as whole to reflect what is present in the DD panel in Gene2Phenotype.
Created: 3 Aug 2022, 3:05 p.m. | Last Modified: 3 Aug 2022, 3:05 p.m.

Panel Version: 2.76

Created: 3 Aug 2022, 3:05 p.m.
Last Modified: 3 Aug 2022, 3:05 p.m.
Panel version: 2.76

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Although the MOI has been set to 'Monoallelic' only, to reflect the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of biallelic variants in ATAD3A.

As DDG2P is a component panel of the Paediatric disorders super panel, the MOI should be updated to 'Both mono- and biallelic' to ensure that all cases are captured.
Created: 5 Jul 2021, 2:54 p.m. | Last Modified: 5 Jul 2021, 2:54 p.m.

Panel Version: 2.30

Created: 5 Jul 2021, 2:54 p.m.
Last Modified: 5 Jul 2021, 2:54 p.m.
Panel version: 2.30

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for monoallelic ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Changed MOI from 'both monoallelic and biallelic' to just monoallelic, because the biallelic ATAD3A disorder has a 'probable' DDG2P disease confidence.
Created: 28 Jan 2019, 2:29 p.m.

Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:39 p.m.

Multiple MOPs in DD-G2P download: dominant negative, loss of function. Multiple MOIs in DD-G2P download: monoallelic and biallelic. Multiple ratings in DD-G2P download: Rated confirmed for monoallelic ATAD3A disorder and rated probable for biallelic ATAD3A disorder.
Created: 19 Nov 2018, 11:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.55

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy

OMIM

612316

Clinvar variants

Variants in ATAD3A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were updated from 27640307 to 32004445; 27640307

3 Aug 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_MOI was removed from gene: ATAD3A.

5 Jul 2021, Gel status: 3

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: ATAD3A. Tag Q3_21_MOI tag was added to gene: ATAD3A.

5 Jul 2021, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Jan 2019, Gel status: 3