Genomics England

APTX

aprataxin

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia with Oculomotor Apraxia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	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 Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	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 Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, OMIM:208920, ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MONDO:0008842
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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: - Leukodystrophy, childhood onset Signed-off version 10.18	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 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920