NKX6-2

PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560
R-numbers: R57
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
R-numbers: R61
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive Spastic Ataxia and Hypomyelination
R-numbers: R54
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560, Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560