Genomics England

ATAD3A

ATPase family, AAA domain containing 3A

Panel	Mode of inheritance	Details
Filter panels8 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 4.40	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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Harel-Yoon syndrome, OMIM:617183
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	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 3.122	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 Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Harel-Yoon syndrome 617183
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	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 4.114	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 3.69	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Harel-Yoon syndrome, OMIM:617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810