ATP13A2

PanelMode of inheritanceDetails
9 panels
R-numbers: R56
Signed-off version 1.121
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb Syndrome OMIM:606693, Kufor-Rakeb syndrome MONDO:0011706
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome 606693, Parkinson disease, Dystonia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PARKINSON DISEASE 9 606693
R-numbers: R60
Signed-off version 1.27
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: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PARKINSON DISEASE 9
R-numbers: R58
Signed-off version 2.178
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome, OMIM:606693, Dystonia, Spastic paraplegia 78, autosomal recessive, OMIM:617225
R-numbers: R231
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes