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| Paediatric or syndromic cardiomyopathy v7.92 | ATAD3A | Matthew Edwards reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33575671, 39472908; Phenotypes: perinatal mitochondrial cardiac failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.70 | ATAD3A | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: ATAD3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.70 | ATAD3A | Achchuthan Shanmugasundram Classified gene: ATAD3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.70 | ATAD3A |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants in ATAD3A gene with syndromic cardiomyopathy. Although the majority of the cases are reported with CNVs involving deletions or duplications of ATAD3 gene cluster (ATAD3A, ATAD3B & ATAD3C genes), there are also patients reported with small variants in monoallelic or biallelic states (as homozygous or as compound heterozygous with the CNV). Hence, this gene can be promoted to green rating in the next GMS update. |
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| Paediatric or syndromic cardiomyopathy v7.70 | ATAD3A | Achchuthan Shanmugasundram Gene: atad3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.69 | ATAD3A | Achchuthan Shanmugasundram Tag cnv tag was added to gene: ATAD3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.69 | ATAD3A | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 02 September 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.69 | ATAD3A | Achchuthan Shanmugasundram Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, OMIM:617183; Harel-Yoon syndrome, MONDO:0014958; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MONDO:0032931 to Harel-Yoon syndrome, OMIM:617183; Harel-Yoon syndrome, MONDO:0014958; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MONDO:0032931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.68 | ATAD3A |
Achchuthan Shanmugasundram gene: ATAD3A was added gene: ATAD3A was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307; 28549128; 31727539; 32004445; 33575671; 37095554 Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, OMIM:617183; Harel-Yoon syndrome, MONDO:0014958; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MONDO:0032931 Review for gene: ATAD3A was set to GREEN Added comment: PMID:27640307 (2016) reported the identification of the same recurrent de novo ATAD3A variant (c.1582C>T/ p.Arg528Trp) in five unrelated individuals. Their clinical presentations included global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy (HCM). HCM was identified in two of five patients. This study also reported two additional families with biallelic ATAD3A variants - one family with homozygous c.158C>T/ p.Thr53Ile variant and the unrelated newborn with biallelic ATAD3A deletions mediated by nonallelic homologous recombination (NAHR) between ATAD3A and gene family members ATAD3B and ATAD3C. The newborn with the deletion variants had mild RVH with septal hypertrophy. PMID:28549128 (2017) reported five patients from four unrelated families with fatal congenital pontocerebellar hypoplasia and with large biallelic deletions that generate chimeric ATAD3B/ATAD3A fusion genes. Progressive cardiac hypertrophy was reported in one of five patients. PMID:31727539 (2019) reported the identification of a novel homozygous missense variant in ATAD3A gene (c.1217 T > G/ p.Leu406Arg) in four siblings from a consanguineous family presenting with fatal neonatal cerebellar hypoplasia, seizures, axial hypotonia, HCM, hepatomegaly, congenital cataract, and dysmorphic facies. HCM was reported in all four patients. PMID:32004445 (2020) reported five unrelated neonates with a heterozygous 67-kb duplication at 1p36.33 creating an in-frame ATAD3A–ATAD3C fusion gene. They presented with a disorder characterised by cardiomyopathy, corneal opacities, encephalopathy, hypotonia, and seizures. HCM and DCM were reported in three and two patients respectively. PMID:33575671 (2021) reported the investigation of 17 patients from 16 unrelated families, where six different de novo duplications in the ATAD3 gene locus (ATAD3A–ATAD3C fusion duplications) were reported. They presented with lethal perinatal cardiomyopathy, persistent hyperlactacidemia, and frequently corneal clouding or cataracts and encephalopathy. PMID:37095554 (2023) reported four patients from two families with compound heterozygous c.229C>G (p.Leu77Val) variant and 3-4 exon deletion in ATAD3A gene. They presented with a less severe course of the disease and a longer lifespan than in the case of biallelic loss-of-function variants. Two patients from one of these two families were reported with mild HCM. PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which two paediatric patients with unspecified cardiomyopathy were identified with de novo heterozygous duplication in ATAD3 gene cluster via reanalysis of data from trio genome sequencing. Both monoallelic and biallelic variants in ATAD3A gene have been reported with relevant phenotypes in both OMIM (MIM #617183) and Gene2Phenotype (definitive rating for monoallelic and strong rating for biallelic on the DD panel). Records from both resources include hypertrophic cardiomyopathy as part of the phenotype. This gene is also green on the 'Cardiomyopathy_Paediatric' panel on PanelApp Australia. Sources: Literature |
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