Lysosomal storage disorder
Gene: ARSG
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:23 a.m. | Last Modified: 1 Feb 2023, 11:23 a.m.
Panel Version: 2.3
Two more unrelated cases reported from Portugal, with supporting functional assays demonstrating loss of enzyme function. Now 8 cases with 5 different variants (4 missense and 1 frameshift), and an animal model.Created: 5 Mar 2021, 6:16 a.m. | Last Modified: 5 Mar 2021, 6:16 a.m.
Panel Version: 1.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Usher syndrome, type IV MIM#618144
Publications
Variants in this GENE are reported as part of current diagnostic practice
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least five variants reported in at least four unrelated cases, together with supportive functional studies and animal models.Created: 16 Mar 2021, 12:32 p.m. | Last Modified: 15 Mar 2022, 3:07 p.m.
Panel Version: 1.78
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 16 Mar 2021, 12:19 p.m. | Last Modified: 16 Mar 2021, 12:19 p.m.
Panel Version: 1.14
Comment on phenotypes: Including of neuronal ceroid lipofuscinosisCreated: 1 Jul 2019, 1:21 p.m. | Last Modified: 1 Jul 2019, 1:21 p.m.
Panel Version: 0.6
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q2_21_rating was removed from gene: ARSG.
Source Expert Review Green was added to ARSG. Source NHS GMS was added to ARSG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: ARSG.
Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381; 33300174
Gene: arsg has been classified as Amber List (Moderate Evidence).
Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381
Phenotypes for gene: ARSG were changed from Usher syndrome, type IV 618144 to Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141
Phenotypes for gene: ARSG were changed from to Usher syndrome, type IV 618144
Publications for gene: ARSG were set to
gene: ARSG was added gene: ARSG was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Amber Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal