Deafness_IsolatedAndComplex
Gene: NAT6

NAT6 (N-acetyltransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000243477
EnsemblGeneIds (GRCh37): ENSG00000243477
OMIM: 607073, Gene2Phenotype
NAT6 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies.

HGNC approved name is NAA80.

Sources: Literature
Created: 7 Jun 2024, 12:13 a.m. | Last Modified: 7 Jun 2024, 12:14 a.m.

Panel Version: 1.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auroneurodental syndrome, MIM# 620830

Publications

34805998

Created: 7 Jun 2024, 12:13 a.m.
Last Modified: 7 Jun 2024, 12:14 a.m.
Panel version: 1.183

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Auroneurodental syndrome, MIM# 620830

Tags

new gene name

OMIM

607073

Clinvar variants

Variants in NAT6

Penetrance

None

Publications

34805998

Panels with this gene

History Filter Activity

7 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nat6 has been classified as Red List (Low Evidence).

7 Jun 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NAT6 was added gene: NAT6 was added to Deafness_IsolatedAndComplex. Sources: Literature new gene name tags were added to gene: NAT6. Mode of inheritance for gene: NAT6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAT6 were set to 34805998 Phenotypes for gene: NAT6 were set to Auroneurodental syndrome, MIM# 620830 Review for gene: NAT6 was set to RED

Deafness_IsolatedAndComplex Gene: NAT6