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Limb disorders v0.275 TRAPPC2 Eleanor Williams Marked gene: TRAPPC2 as ready
Limb disorders v0.275 TRAPPC2 Eleanor Williams Gene: trappc2 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.272 TRAPPC2 Eleanor Williams Added phenotypes Spondyloepiphyseal dysplasia tarda, 313400 for gene: TRAPPC2
Limb disorders v0.270 TRAPPC2 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
Limb disorders v0.141 TRAPPC2 Eleanor Williams commented on gene: TRAPPC2: Genomics England clinical team notes - Presents with short stature (MEDT), on skeletal dysplasia panel
Limb disorders v0.141 TRAPPC2 Eleanor Williams Classified gene: TRAPPC2 as Amber List (moderate evidence)
Limb disorders v0.141 TRAPPC2 Eleanor Williams Added comment: Comment on list classification: Rated Amber on advice from Genomics England clinical team
Limb disorders v0.141 TRAPPC2 Eleanor Williams Gene: trappc2 has been classified as Amber List (Moderate Evidence).
Limb disorders TRAPPC2 Ellen McDonagh Added gene to panel