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Severe Paediatric Disorders

Gene: SLC6A20

Red List (low evidence)

SLC6A20 (solute carrier family 6 member 20)
EnsemblGeneIds (GRCh38): ENSG00000163817
EnsemblGeneIds (GRCh37): ENSG00000163817
OMIM: 605616, Gene2Phenotype
SLC6A20 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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, 9:50 a.m. | Last Modified: 17 Oct 2023, 9:50 a.m.
Panel Version: 1.173

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: SLC6A20; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hyperglycinuria, 138500 (3) | Iminoglycinuria, digenic, 242600 (3); Mode of inheritance: 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
  • Expert Review Red
  • Next Generation Children Project
  • Expert list
Phenotypes
  • Iminoglycinuria, digenic, 242600
  • Hyperglycinuria, 138500
Tags
refuted
OMIM
605616
Clinvar variants
Variants in SLC6A20
Penetrance