1. Panels
  2. Microcephaly
  3. NAT8L
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Microcephaly

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single affected individual.
Created: 14 Mar 2022, 5:23 a.m. | Last Modified: 14 Mar 2022, 5:23 a.m.
Panel Version: 1.113

Phenotypes
N-acetylaspartate deficiency - MIM#614063

Created: 14 Mar 2022, 5:23 a.m.
Last Modified: 14 Mar 2022, 5:23 a.m.
Panel version: 1.113

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies.
Sources: Literature
Created: 10 Mar 2022, 11:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?N-acetylaspartate deficiency - MIM#614063

Publications

Created: 10 Mar 2022, 11:59 p.m.

Panel version: 1.113

Details

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

History Filter Activity

14 Mar 2022, 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).

14 Mar 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAT8L were changed from N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063

14 Mar 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAT8L were changed from ?N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063

14 Mar 2022, 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).

10 Mar 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: NAT8L was added gene: NAT8L was added to Microcephaly. Sources: Literature Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAT8L were set to 11310630; 19807691; 32275776 Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063 Review for gene: NAT8L was set to AMBER