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Inborn errors of metabolism

Gene: NAT8L

Red List (low evidence)

NAT8L (N-acetyltransferase 8 like)
EnsemblGeneIds (GRCh38): ENSG00000185818
EnsemblGeneIds (GRCh37): ENSG00000185818
OMIM: 610647, Gene2Phenotype
NAT8L is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: One variant reported to be associated with phenotype
Created: 6 Feb 2017, 3:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?N-acetylaspartate deficiency 614063

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?N-acetylaspartate deficiency 614063
OMIM
610647
Clinvar variants
Variants in NAT8L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NAT8L was added gene: NAT8L was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAT8L were set to 19807691 Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency 614063