Genomics England

APTX

aprataxin

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920, ataxia with oculomotor apraxia type 1 MONDO:0008842
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia with Oculomotor Apraxia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Ataxia with Oculomotor Apraxia, Early onset ataxia with oculomotor apraxia and hypoalbuminemia
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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Ataxia with oculomotor apraxia 1, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920, Disorders of ubiquinone metabolism and biosynthesis
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of ubiquinone metabolism and biosynthesis, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920, Ataxia with oculomotor apraxia 1
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920