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Likely inborn error of metabolism - targeted testing not possible v4.44 SLC22A5 Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5.
Likely inborn error of metabolism - targeted testing not possible v4.44 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.44 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).
Likely inborn error of metabolism - targeted testing not possible v4.43 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 27604308; 24816252
Likely inborn error of metabolism - targeted testing not possible v4.42 SLC22A5 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5.
Likely inborn error of metabolism - targeted testing not possible v4.42 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 rating: GREEN; Changed publications to: 10545605, 11261427; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.42 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle) to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Likely inborn error of metabolism - targeted testing not possible v2.94 SLC22A5 Eleanor Williams Source: Expert Review Red was removed from gene: SLC22A5
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC22A5 Ivone Leong Source NHS GMS was added to SLC22A5.
Source London North GLH was added to SLC22A5.
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC22A5 Ellen McDonagh gene: SLC22A5 was added
gene: SLC22A5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 27604308; 24816252
Phenotypes for gene: SLC22A5 were set to Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)