ATP13A2

PanelMode of inheritanceDetails
10 panels
R-numbers: R56
Signed-off version 3.19
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb Syndrome OMIM:606693, Kufor-Rakeb syndrome MONDO:0011706
R-numbers: R60
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome, 606693 AR, Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia
R-numbers: R58
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome, OMIM:606693, Dystonia, Spastic paraplegia 78, autosomal recessive, OMIM:617225
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome 606693, Parkinson disease, Dystonia
R-numbers: R61
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PARKINSON DISEASE 9 606693
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PARKINSON DISEASE 9
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 78, autosomal recessive OMIM:617225, autosomal recessive spastic paraplegia type 78 MONDO:0014975
R-numbers: R231
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome OMIM:606693, Kufor-Rakeb syndrome MONDO:0011706