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Likely inborn error of metabolism - targeted testing not possible v4.122 | SLC6A20 | Achchuthan Shanmugasundram Tag Q4_23_expert_review tag was added to gene: SLC6A20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.55 | SLC6A20 | Eleanor Williams commented on gene: SLC6A20: Added the gene-checked tag as this is the right gene on the panel, even though it probably should be demoted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.55 | SLC6A20 | Eleanor Williams Tag gene-checked tag was added to gene: SLC6A20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.52 | SLC6A20 |
Sarah Leigh Tag refuted tag was added to gene: SLC6A20. Tag Q4_23_demote_red tag was added to gene: SLC6A20. |
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Likely inborn error of metabolism - targeted testing not possible v4.52 | SLC6A20 | Sarah Leigh edited their review of gene: SLC6A20: Added comment: The gene disease associations of SLC6A20 with Hyperglycinuria (OMIM:138500) and Iminoglycinuria, digenic (OMIM:242600) have been refuted in OMIM. The single SLC6A20 variant rs17279437 has been reclassified as a polymorphism, because it is present in 19,986 of 278,932 alleles and in 856 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.07165 (Personal Communication to OMIM from Hamosh, A. Baltimore, Md. 3rd April 2023).; Changed rating: RED; Changed phenotypes to: Hyperglycinuria 138500, Iminoglycinuria, digenic 242600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.52 | SLC6A20 | Eleanor Williams commented on gene: SLC6A20 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC6A20 |
Ellen McDonagh gene: SLC6A20 was added gene: SLC6A20 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC6A20 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A20 were set to 24816252; 19033659 Phenotypes for gene: SLC6A20 were set to Hyperglycinuria |