Genomics England
GMS Panels
Panels
Genes and Entities

NAA60

N(alpha)-acetyltransferase 60, NatF catalytic subunit
OMIM: 614246
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786, basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786, basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786, basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977