APTX

aprataxin
OMIM: 606350, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green APTX in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Dystonia
Green APTX in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia with Oculomotor Apraxia Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Green APTX in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Ataxia with Oculomotor Apraxia Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Red APTX in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ataxia with Oculomotor Apraxia Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Dystonia
Green APTX in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 Ataxia with oculomotor apraxia 1
Green APTX in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 APTX in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
Red APTX in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes ATAXIA WITH OCULOMOTOR APRAXIA 1
Green APTX in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
Green APTX in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS London North GLH Emory Genetics Laboratory Phenotypes Hereditary Neuropathies Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ATAXIA WITH OCULOMOTOR APRAXIA 1
Red APTX in Intellectual disability Level 2: Developmental disorders Version 9.281 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 ATAXIA WITH OCULOMOTOR APRAXIA 1
Green APTX in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Disorders of ubiquinone metabolism and biosynthesis Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 Ataxia with oculomotor apraxia 1
Green APTX in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Ataxia with Oculomotor Apraxia Early onset ataxia with oculomotor apraxia and hypoalbuminemia
Green APTX in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920 ataxia with oculomotor apraxia type 1 MONDO:0008842
Green APTX in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH Emory Genetics Laboratory London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MONDO:0008842
Green APTX in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Dystonia Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920