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Congenital disorders of glycosylation v2.33 TRAPPC11 Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S 615356 to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Congenital disorders of glycosylation v2.32 TRAPPC11 Sarah Leigh Deleted their comment
Congenital disorders of glycosylation v2.32 TRAPPC11 Sarah Leigh Added comment: Comment on phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356;autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Congenital disorders of glycosylation v2.32 TRAPPC11 Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S 615356 to Muscular dystrophy, limb-girdle, type 2S 615356
Congenital disorders of glycosylation v2.31 TRAPPC11 Sarah Leigh Publications for gene: TRAPPC11 were set to 26912795; 23830518
Congenital disorders of glycosylation v2.30 TRAPPC11 Sarah Leigh edited their review of gene: TRAPPC11: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in four unrelated cases. Animal model suggestive of involvement in glycosylation.; Changed rating: AMBER
Congenital disorders of glycosylation v2.30 TRAPPC11 Sarah Leigh Classified gene: TRAPPC11 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.30 TRAPPC11 Sarah Leigh Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.14 TRAPPC11 Zornitza Stark reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108, 26912795, 27707803, 27862579, 28484880; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation TRAPPC11 Sarah Leigh marked TRAPPC11 as ready
Congenital disorders of glycosylation TRAPPC11 Sarah Leigh commented on TRAPPC11
Congenital disorders of glycosylation TRAPPC11 Sarah Leigh classified TRAPPC11 as red
Congenital disorders of glycosylation TRAPPC11 Daniel Ungar added TRAPPC11 to panel
Congenital disorders of glycosylation TRAPPC11 Daniel Ungar reviewed TRAPPC11