APTX

PanelMode of inheritanceDetails
8 panels
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
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with Oculomotor Apraxia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
R-numbers: R57
Signed-off version 4.0
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
R-numbers: R54
Signed-off version 5.0
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
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 5.0
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
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
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920