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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

3 reviews

Cassandra Smith (Genomics England)

I don't know

PMID:30811981 - p.R92C in GLT8D1 was reported to be associated with ALS. However, p.P529L in ARPP21 was identified in many of the same patients in this study.

GLT8D1 p.R92C is present in 222 alleles in gnomAD v4.1.1 (https://gnomad.broadinstitute.org/variant/3-52697776-G-A?dataset=gnomad_r4) whereas ARPP21 p.P529L is present in only 8 (https://gnomad.broadinstitute.org/variant/3-35792484-C-T?dataset=gnomad_r4)

ARPP21 p.P529L has also been published in two additional papers associated with ALS (PMID: 38960585, 41917433)
Created: 16 Apr 2026, 3:43 p.m. | Last Modified: 16 Apr 2026, 3:43 p.m.
Panel Version: 8.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 16 Apr 2026, 3:43 p.m.
Last Modified: 16 Apr 2026, 3:43 p.m.
Panel version: 8.21

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