NKX6-2

PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560, Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy