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Systemic Autoinflammatory Disease_Periodic Fever v0.187 | SLC29A3 | Zornitza Stark Marked gene: SLC29A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.187 | SLC29A3 | Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.187 | SLC29A3 | Zornitza Stark Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.186 | SLC29A3 | Zornitza Stark Publications for gene: SLC29A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.185 | SLC29A3 | Zornitza Stark Mode of inheritance for gene: SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.184 | SLC29A3 | Zornitza Stark edited their review of gene: SLC29A3: Changed publications: 18940313, 19336477, 22238637 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.184 | SLC29A3 |
Zornitza Stark commented on gene: SLC29A3: The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). Multiple families reported. |
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Systemic Autoinflammatory Disease_Periodic Fever v0.184 | SLC29A3 | Zornitza Stark reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.0 | SLC29A3 |
Zornitza Stark gene: SLC29A3 was added gene: SLC29A3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: SLC29A3 was set to Unknown |