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  3. NAT8L
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Aminoacidopathy

Gene: NAT8L

Red List (low evidence)
NAT8L (N-acetyltransferase 8 like)
EnsemblGeneIds (GRCh38): ENSG00000185818
EnsemblGeneIds (GRCh37): ENSG00000185818
OMIM: 610647, Gene2Phenotype
NAT8L is in 6 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Reported in one individual with N-acetylaspartate deficiency but also has other severe neurological features however the gene-disease association in this individual is unclear.

Classified LIMITED by ClinGen Aminoacidopathy GCEP on 29/03/2024 - https://search.clinicalgenome.org/CCID:005565
Sources: ClinGen
Created: 19 Jun 2024, 6:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
N-acetylaspartate deficiency MONDO:0013549

Publications

Created: 19 Jun 2024, 6:36 a.m.

Panel version: 1.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • N-acetylaspartate deficiency MONDO:0013549
OMIM
610647
Clinvar variants
Variants in NAT8L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jul 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nat8l has been classified as Red List (Low Evidence).

16 Jul 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nat8l has been classified as Red List (Low Evidence).

19 Jun 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: NAT8L was added gene: NAT8L was added to Aminoacidopathy. Sources: ClinGen 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 MONDO:0013549 Review for gene: NAT8L was set to RED