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Arthrogryposis

Gene: SLC6A9

Amber List (moderate evidence)

SLC6A9 (solute carrier family 6 member 9)
EnsemblGeneIds (GRCh38): ENSG00000196517
EnsemblGeneIds (GRCh37): ENSG00000196517
OMIM: 601019, Gene2Phenotype
SLC6A9 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Rated SLC6A9 Amber in consultation with Zerin Hyder (Genomics England Clinical Team) based on literature cases (PMIDs 27773429, 27481395), and a Probable rating for an Arthrogryposis disorder in Gene2Phenotype.
Created: 26 Nov 2019, 4:16 p.m. | Last Modified: 26 Nov 2019, 4:16 p.m.
Panel Version: 2.67
Gene2Phenotype phenotype of 'Glycine Encephalopathy with Arthrogryposis' with 'probable' disease confidence based on PMID:27773429 (Kurolap et al., 2016) who report 4 individuals from 2 Arab-Muslim families with arthrogryposis amongst their symptoms. In addition, PMID:27481395 (Alfadhel et al., 2016) report a consanguineous family with one child who presented with non-ketotic hyperglycinemia and a homozygous missense variant in SLC6A9 (p.Ser407Gly). Features included joint laxity but Arthrogryposis isn't mentioned specifically.
Created: 26 Nov 2019, 3:19 p.m. | Last Modified: 26 Nov 2019, 3:19 p.m.
Panel Version: 2.64
Added to Arthrogryposis panel after agreement with Zerin Hyder (Genomics England Clinical Team), based on Arthrogryposis phenotype on DDG2P panel V1.154.
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:19 p.m.
Panel Version: 2.64

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Glycine encephalopathy with normal serum glycine, 617301
  • Glycine Encephalopathy with Arthrogryposis
OMIM
601019
Clinvar variants
Variants in SLC6A9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: slc6a9 has been classified as Amber List (Moderate Evidence).

26 Nov 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC6A9 were set to

26 Nov 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to SLC6A9. Rating Changed from Green List (high evidence) to Red List (low evidence)

26 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SLC6A9 was added gene: SLC6A9 was added to Arthrogryposis. Sources: Literature,Other,Expert Review Green Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A9 were set to Glycine encephalopathy with normal serum glycine, 617301; Glycine Encephalopathy with Arthrogryposis