Undiagnosed metabolic disorders
Gene: SLC6A19
I am not sure why this gene has been added with monoallelic inheritance as an option as Hartnup is a recessive condition. Suggest inheritance is changed to biallelic onlyCreated: 20 Feb 2024, 10:14 a.m. | Last Modified: 20 Feb 2024, 10:14 a.m.
Panel Version: 1.613
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P / DD. At least 6 variants reported in 8 cases of Hartnup disorder 234500Created: 19 Jan 2017, 11:16 a.m.
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
This gene has been classified as Green List (High Evidence).
Publications for SLC6A19 were set to 27604308; 20399395; 19335424
Phenotypes for SLC6A19 were set to Hartnup disorder 234500 AR; Hyperglycinuria 138500 AD; Iminoglycinuria, digenic 242600 AR
This gene has been classified as Green List (High Evidence).
SLC6A19 was added to Undiagnosed metabolic disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
SLC6A19 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
SLC6A19 was created by sleigh