Genes in panel

Neurodegenerative disorders - adult onset

Gene: GLT8D1

No list

GLT8D1 (glycosyltransferase 8 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000016864
EnsemblGeneIds (GRCh37): ENSG00000016864
GLT8D1 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

14 ALS cases with heterozygous missense (10 cases with p.R92C), and supporting in vitro functional assays and zebrafish model.
Sources: Expert list
Created: 27 Sep 2020, 11:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Amyotrophic lateral sclerosis
Clinvar variants
Variants in GLT8D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GLT8D1 was added gene: GLT8D1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: GLT8D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLT8D1 were set to 30811981 Phenotypes for gene: GLT8D1 were set to Amyotrophic lateral sclerosis Review for gene: GLT8D1 was set to GREEN gene: GLT8D1 was marked as current diagnostic