Genomics England

N(alpha)-acetyltransferase 60, NatF catalytic subunit

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 6.6	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 6.7	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 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786, basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977