Likely inborn error of metabolism

Gene: SLC6A20

Added the gene-checked tag as this is the right gene on the panel, even though it probably should be demoted.

Created: 26 Oct 2023, 11:59 p.m. | Last Modified: 26 Oct 2023, 11:59 p.m.

Panel Version: 4.55

Although this does appear to be the correct gene on the panel as SLC6A20 is mentioned in PMID:19033659, it would appear that its association with a disease phenotype in OMIM has been removed. Therefore this gene-disease association should be reviewed.

Created: 16 Oct 2023, 8:21 p.m. | Last Modified: 16 Oct 2023, 8:21 p.m.

Panel Version: 4.52

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. Comment from GMS: 'Demotion of a green gene - disease association refuted in OMIM, as the single variant has been classified as common in gnomAD database.'

Created: 4 May 2024, 3:17 p.m. | Last Modified: 4 May 2024, 3:17 p.m.

Panel Version: 5.3

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).

Created: 17 Oct 2023, 9:52 a.m. | Last Modified: 17 Oct 2023, 9:52 a.m.

Panel Version: 4.52

Associated with phenotype in OMIM, not in G2P. One variant reported in 5 families, Hyperglycinuria 138500 results from heterozygous variant and Iminoglycinuria, digenic 242600 from homozygous variants

Created: 27 Feb 2017, 12:44 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperglycinuria 138500; Iminoglycinuria, digenic 242600

Publications

• 24816252
• 19033659