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Arthrogryposis v3.154 SLC6A9 Ivone Leong Tag Q4_21_rating was removed from gene: SLC6A9.
Tag Q4_21_NHS_review was removed from gene: SLC6A9.
Arthrogryposis v3.154 SLC6A9 Sarah Leigh commented on gene: SLC6A9
Arthrogryposis v3.153 SLC6A9 Ivone Leong Source Expert Review Green was added to SLC6A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.145 SLC6A9 Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: SLC6A9.
Arthrogryposis v3.140 SLC6A9 Arina Puzriakova Classified gene: SLC6A9 as Amber List (moderate evidence)
Arthrogryposis v3.140 SLC6A9 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Arthrogryposis v3.140 SLC6A9 Arina Puzriakova Gene: slc6a9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.139 SLC6A9 Arina Puzriakova Publications for gene: SLC6A9 were set to 27773429; 27481395
Arthrogryposis v3.138 SLC6A9 Arina Puzriakova Phenotypes for gene: SLC6A9 were changed from Glycine encephalopathy with normal serum glycine, 617301; Glycine Encephalopathy with Arthrogryposis to Glycine encephalopathy with normal serum glycine, OMIM:617301
Arthrogryposis v3.137 SLC6A9 Arina Puzriakova Tag Q4_21_rating tag was added to gene: SLC6A9.
Arthrogryposis v3.137 SLC6A9 Rhiannon Mellis reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31875334, 27773429, 32712301, 33269555; Phenotypes: Arthrogryposis multiplex congenita, Glycine encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v2.67 SLC6A9 Rebecca Foulger Classified gene: SLC6A9 as Amber List (moderate evidence)
Arthrogryposis v2.67 SLC6A9 Rebecca Foulger Added comment: 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.
Arthrogryposis v2.67 SLC6A9 Rebecca Foulger Gene: slc6a9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.65 SLC6A9 Rebecca Foulger Publications for gene: SLC6A9 were set to
Arthrogryposis v2.64 SLC6A9 Rebecca Foulger commented on gene: SLC6A9: 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.
Arthrogryposis v2.64 SLC6A9 Rebecca Foulger changed review comment from: Added to Arthrogryposis panel after agreement with Zerin Hyder (Genomics England Clinical Team), based on Arthrogryposis phenotye on DDG2P panel V1.154.; to: Added to Arthrogryposis panel after agreement with Zerin Hyder (Genomics England Clinical Team), based on Arthrogryposis phenotype on DDG2P panel V1.154.
Arthrogryposis v2.64 SLC6A9 Rebecca Foulger reviewed gene: SLC6A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arthrogryposis v2.62 SLC6A9 Rebecca Foulger Source Expert Review Red was added to SLC6A9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Arthrogryposis v2.62 SLC6A9 Rebecca Foulger 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