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Motor Neurone Disease

Gene: GLT8D1

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

2 reviews

Sarah Leigh (Genomics England)

I don't know

The association between GLT8D1 variants and familial amyotrophic lateral sclerosis (MONDO:0005144) has been set to Limited by the Amyotrophic Lateral Sclerosis Spectrum Disorders Expert Panel in ClinGen (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2c4f919-ccb5-4d9f-a604-5ed19e19057e-2022-11-08T170000.000Z?page=1&size=25&search=)search=)
Created: 18 Apr 2023, 11:35 a.m. | Last Modified: 18 Apr 2023, 11:35 a.m.
Panel Version: 0.138

Phenotypes
familial amyotrophic lateral sclerosis, MONDO:0005144

Publications

Created: 18 Apr 2023, 11:35 a.m.
Last Modified: 18 Apr 2023, 11:35 a.m.
Panel version: 0.138

Bryony Thompson (Royal Melbourne Hospital)

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: 31 Mar 2020, 8:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis

Publications

Created: 31 Mar 2020, 8:07 a.m.

Panel version: 0.22

Details

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

History Filter Activity

22 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: glt8d1 has been classified as Amber List (Moderate Evidence).

22 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: glt8d1 has been classified as Amber List (Moderate Evidence).

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: glt8d1 has been classified as Green List (High Evidence).

31 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GLT8D1 was added gene: GLT8D1 was added to Motor Neuron Disease. 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