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| Stickler Syndrome v1.6 | SLC29A3 | Zornitza Stark Marked gene: SLC29A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.6 | SLC29A3 | Zornitza Stark Gene: slc29a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.6 | SLC29A3 | Zornitza Stark Classified gene: SLC29A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.6 | SLC29A3 | Zornitza Stark Gene: slc29a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.5 | SLC29A3 | Zornitza Stark reviewed gene: SLC29A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome - MIM#602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.5 | SLC29A3 |
Krithika Murali changed review comment from: Phenotypic features can overlap with Stickler syndrome (presentation VCGS Dysmorphology meeting 24.3.23) Sources: Expert list, Literature; to: Phenotypic features can overlap with Stickler syndrome (presentation VCGS Dysmorphology meeting 24.3.23, suggested adding gene to Stickler panel) Sources: Expert list, Literature |
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| Stickler Syndrome v1.5 | SLC29A3 |
Krithika Murali gene: SLC29A3 was added gene: SLC29A3 was added to Stickler Syndrome. Sources: Expert list,Literature Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome - MIM#602782 Review for gene: SLC29A3 was set to GREEN Added comment: Phenotypic features can overlap with Stickler syndrome (presentation VCGS Dysmorphology meeting 24.3.23) Sources: Expert list, Literature |
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