Activity
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Limb disorders v0.275
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TRAPPC2
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Eleanor Williams Marked gene: TRAPPC2 as ready
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Limb disorders v0.275
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TRAPPC2
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Eleanor Williams Gene: trappc2 has been classified as Amber List (Moderate Evidence).
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Limb disorders v0.272
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TRAPPC2
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Eleanor Williams Added phenotypes Spondyloepiphyseal dysplasia tarda, 313400 for gene: TRAPPC2
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Limb disorders v0.270
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TRAPPC2
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Louise Daugherty reviewed gene: TRAPPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondyloepiphyseal dysplasia tarda, 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Limb disorders v0.141
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TRAPPC2
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Eleanor Williams commented on gene: TRAPPC2: Genomics England clinical team notes - Presents with short stature (MEDT), on skeletal dysplasia panel
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Limb disorders v0.141
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TRAPPC2
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Eleanor Williams Classified gene: TRAPPC2 as Amber List (moderate evidence)
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Limb disorders v0.141
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TRAPPC2
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Eleanor Williams Added comment: Comment on list classification: Rated Amber on advice from Genomics England clinical team
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Limb disorders v0.141
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TRAPPC2
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Eleanor Williams Gene: trappc2 has been classified as Amber List (Moderate Evidence).
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Limb disorders
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TRAPPC2
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Ellen McDonagh Added gene to panel
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