Activity
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| Likely inborn error of metabolism v5.5 | SLC6A19 |
Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2. The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants)nts). Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update. |
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| Likely inborn error of metabolism v1.47 | SLC36A2 |
Ivone Leong Source NHS GMS was added to SLC36A2. Source London North GLH was added to SLC36A2. |
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| Likely inborn error of metabolism v0.4 | SLC36A2 |
Ellen McDonagh gene: SLC36A2 was added gene: SLC36A2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC36A2 were set to 27604308; 19033659 Phenotypes for gene: SLC36A2 were set to Iminoglycinuria, digenic 242600; Hyperglycinuria 138500; Hyperglycinuria AR |
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