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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

1 review

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
Variants in SLC6A19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SLC6A19 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hyperglycinuria, 138500; Iminoglycinuria, digenic, 242600; Hartnup disorder, 234500 for gene: SLC6A19

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC6A19 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC6A19.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC6A19. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SLC6A19 was added gene: SLC6A19 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC6A19 was set to