Adult onset neurodegenerative disorder
Gene: GLT8D1
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=). 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
14 ALS cases with heterozygous missense (10 cases with p.R92C), and supporting in vitro functional assays and zebrafish model.
Sources: Expert listCreated: 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
Gene: glt8d1 has been classified as Amber List (Moderate Evidence).
Publications for gene: GLT8D1 were set to 30811981; 35525134:33581933:31653410:33714647:34746377
Phenotypes for gene: GLT8D1 were changed from Amyotrophic lateral sclerosis to familial amyotrophic lateral sclerosis, MONDO:0005144
Publications for gene: GLT8D1 were set to 30811981
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