Nephrocalcinosis or nephrolithiasis

Gene: SLC6A19

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.
Achchuthan Shanmugasundram (Genomics England Curator), 11 Jun 2024

Created: 17 Sep 2024, 2:12 p.m. | Last Modified: 17 Sep 2024, 2:34 p.m.

Panel Version: 4.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Red List (low evidence)

As far as I know there are no stones associated with it, as Iminoglycin is soluble

Created: 30 Oct 2019, 11:59 a.m. | Last Modified: 30 Oct 2019, 11:59 a.m.

Panel Version: 1.23

Red List (low evidence)

Not asscocaited with stones/n-calc

Created: 1 Nov 2015, 7:27 p.m.

Phenotypes
iminoglycinuria