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| Mitochondrial disorders v6.4 | SLC22A5 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SLC22A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.3 | SLC22A5 | Sarah Leigh commented on gene: SLC22A5: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.2 | SLC22A5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC22A5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial disorders v4.71 | SLC22A5 | Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.71 | SLC22A5 | Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.71 | SLC22A5 | Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.63 | SLC22A5 | Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.63 | SLC22A5 | Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 17884651; 25778941; 28857146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.62 | SLC22A5 | Sarah Leigh edited their review of gene: SLC22A5: Added comment: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.56 | SLC22A5 | Sarah Leigh changed review comment from: Numerous SLC22A5 variants are associated with a relevant phenotype in OMIM (OMIM:212140) and SLC22A5 has a definitive association in Gen2Phen for Systemic Carnitine Deficiency. A supportive mouse model has also been reported (PMID: 17884651).; to: Numerous SLC22A5 variants have been associated with OMIM:212140, and SLC22A5 has a definitive association in Gen2Phen for Systemic Carnitine Deficiency. A supportive mouse model has also been reported (PMID: 17884651). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.56 | SLC22A5 | Sarah Leigh edited their review of gene: SLC22A5: Added comment: Numerous SLC22A5 variants are associated with a relevant phenotype in OMIM (OMIM:212140) and SLC22A5 has a definitive association in Gen2Phen for Systemic Carnitine Deficiency. A supportive mouse model has also been reported (PMID: 17884651).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.56 | SLC22A5 | Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 17884651; 25778941 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.55 | SLC22A5 | Sarah Leigh Tag Q3_23_promote_green tag was added to gene: SLC22A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.55 | SLC22A5 | Sarah Leigh Classified gene: SLC22A5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.55 | SLC22A5 | 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 v4.55 | SLC22A5 | Sarah Leigh Gene: slc22a5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.54 | SLC22A5 | Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 25778941; 17884651; 25778941 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.53 | SLC22A5 | Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.52 | SLC22A5 | Sarah Leigh Publications for gene: SLC22A5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SLC22A5 | Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916797, 25778941, 17884651, 25778941; Phenotypes: Carnitine deficiency, systemic primary MIM#212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.412 | SLC22A5 | Sarah Leigh reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.411 | SLC22A5 |
Sarah Leigh gene: SLC22A5 was added gene: SLC22A5 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140 |
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