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Severe Paediatric Disorders

Gene: SLC6A19

Green List (high evidence)

SLC6A19 (solute carrier family 6 member 19)
EnsemblGeneIds (GRCh38): ENSG00000174358
EnsemblGeneIds (GRCh37): ENSG00000174358
OMIM: 608893, Gene2Phenotype
SLC6A19 is in 8 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

I can't see any evidence that this gene is associated with an autosomal dominant phenotype and suggest the MOI be changed to biallelic only.
Created: 21 Jul 2023, 8:34 a.m. | Last Modified: 21 Jul 2023, 8:34 a.m.
Panel Version: 1.159

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pellagra; cerebellar ataxia; psychosis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SLC6A19; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hartnup disorder, 234500 (3) | Hyperglycinuria, 138500 (3) | Iminoglycinuria, digenic, 242600 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | Autosomal recessive, Digenic recessive
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Iminoglycinuria, digenic, 242600
  • Hyperglycinuria, 138500
  • Hartnup disorder, 234500
OMIM
608893
Clinvar variants