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Mitochondrial disorders v6.4 SLC52A2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC52A2.
Mitochondrial disorders v6.3 SLC52A2 Sarah Leigh edited their review of gene: SLC52A2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v6.2 SLC52A2 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC52A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.97 SLC52A3 Sarah Leigh edited their review of gene: SLC52A3: Added comment: PMIDs 29053833 & 29193829 report a total of 11 unrelated cases of Brown-Vialetto-Van Laere syndrome 1 (OMIM:211530) carrying a total of 14 SLC52A3 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A3 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.
Nine of the SLC52A3 variants occur as either homozygotes or as compound heterozygotes in PMID: 29053833, a further five variants are seen as heterozygotes. The authors comment that the heterozygous individuals did not differ substantially in phenotype including age of presentation from the rest of the cohort of mutation-positive cases.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v4.97 SLC52A2 Sarah Leigh changed review comment from: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.; to: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of nine SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.
Mitochondrial disorders v4.97 SLC52A2 Sarah Leigh changed review comment from: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction.; to: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: SLC52A2.
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh edited their review of gene: SLC52A2: Added comment: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction.; Changed rating: GREEN
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Classified gene: SLC52A2 as Amber List (moderate evidence)
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Gene: slc52a2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.93 SLC52A2 Sarah Leigh Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707; brown-Vialetto-van Laere syndrome 2, MONDO:0013867
Mitochondrial disorders v4.92 SLC52A2 Sarah Leigh Publications for gene: SLC52A2 were set to
Mitochondrial disorders v2.5 SLC52A2 Zornitza Stark reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29053833, 29193829; Phenotypes: Brown-Vialetto-Van Laere syndrome 2 MIM#614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.412 SLC52A2 Sarah Leigh reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.411 SLC52A2 Sarah Leigh gene: SLC52A2 was added
gene: SLC52A2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707