Genomics England

ATAD3A

ATPase family, AAA domain containing 3A

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Harel-Yoon syndrome, OMIM:617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Harel-Yoon syndrome, OMIM:617183
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 6.0	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 6.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy, Harel-Yoon syndrome, OMIM:617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 7.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Harel-Yoon syndrome, OMIM:617183, Harel-Yoon syndrome, MONDO:0014958
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 9.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Harel-Yoon syndrome 617183
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 8.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Harel-Yoon syndrome, OMIM:617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810, Lactic acidosis, Methylglutaconic aciduria
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 9.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Harel-Yoon syndrome, OMIM:617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Harel-Yoon syndrome, OMIM:617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810