DDG2P
Gene: ATAD3A
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
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
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
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
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
Tag Q3_21_MOI was removed from gene: ATAD3A.
Tag watchlist was removed from gene: ATAD3A. Tag Q3_21_MOI tag was added to gene: ATAD3A.
Mode of inheritance for gene: ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rebecca Foulger: Multiple MOPs in DD-G2P downlo
Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: atad3a has been classified as Green List (High Evidence).
Tag watchlist tag was added to gene: ATAD3A.
Added phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy for gene: ATAD3A
gene: ATAD3A was added gene: ATAD3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype 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 ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy