NAT8L

N-acetyltransferase 8 like
OMIM: 610647, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red NAT8L in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes N-acetylaspartate deficiency - MIM#614063
Red NAT8L in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes N-acetylaspartate deficiency - MIM#614063
Red NAT8L in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes N-acetylaspartate deficiency - MIM#614063
Red NAT8L in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes N-acetylaspartate deficiency - MIM#614063
Red NAT8L in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes N-acetylaspartate deficiency - MIM#614063
Red NAT8L in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes N-acetylaspartate deficiency MONDO:0013549