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  3. GLT8D1
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Adult onset neurodegenerative disorder

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 Curator)

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=) If this classification is changed in future this may be relevant to the rating of this gene in PanelApp.
Created: 18 Apr 2023, 11:31 a.m. | Last Modified: 18 Apr 2023, 11:31 a.m.
Panel Version: 4.20
Created: 18 Apr 2023, 11:31 a.m.
Last Modified: 18 Apr 2023, 11:31 a.m.
Panel version: 4.20

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

Created: 27 Sep 2020, 11:38 p.m.

Panel version: 2.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • familial amyotrophic lateral sclerosis, MONDO:0005144
Clinvar variants
Variants in GLT8D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

18 Apr 2023, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GLT8D1 were set to 30811981; 35525134:33581933:31653410:33714647:34746377

18 Apr 2023, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GLT8D1 were changed from Amyotrophic lateral sclerosis to familial amyotrophic lateral sclerosis, MONDO:0005144

18 Apr 2023, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GLT8D1 were set to 30811981

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