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Congenital muscular dystrophy v3.93 TRAPPC11 Arina Puzriakova Phenotypes for gene: TRAPPC11 were changed from congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness; Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 to Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
Congenital muscular dystrophy v1.62 TRAPPC11 Louise Daugherty Classified gene: TRAPPC11 as Green List (high evidence)
Congenital muscular dystrophy v1.62 TRAPPC11 Louise Daugherty Added comment: Comment on list classification: After review, it was agreed that it was an appropriate phenotype, sufficient cases to support gene-disease association.
Congenital muscular dystrophy v1.62 TRAPPC11 Louise Daugherty Gene: trappc11 has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.61 TRAPPC11 Louise Daugherty edited their review of gene: TRAPPC11: Added comment: Reviewed by Genomics England clinical team who noted the phenotype described in the OMIM cases have significant overlap with those described as 'Congenital muscular dystrophy'. There is a relevant muscular phenotype with onset in infancy / early childhood, a raised CK and dystrophic changes on muscle biopsy. The GLH representative has rated it green so would support green rating based on the evidence. The panel has not yet been discussed with the Test Group, but all genes will be reviewed before sign off.; Changed rating: GREEN
Congenital muscular dystrophy v1.60 TRAPPC11 Ivone Leong Classified gene: TRAPPC11 as Amber List (moderate evidence)
Congenital muscular dystrophy v1.60 TRAPPC11 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TRAPPC11 is associated with Muscular dystrophy, limb-girdle, autosomal recessive 18 in OMIM and Gene2Phenotype. There are 2 published cases of unrelated patients with congenital muscular dystrophy who have different variants in TRAPPC11 (PMID: 26322222; 29855340). There are >3 cases of patients with LGMD who have variants in this gene. Clinical input might be required to determine whether this gene should be green on this panel.
Congenital muscular dystrophy v1.60 TRAPPC11 Ivone Leong Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v1.59 TRAPPC11 Ivone Leong Publications for gene: TRAPPC11 were set to 26322222
Congenital muscular dystrophy v1.57 TRAPPC11 Ivone Leong Phenotypes for gene: TRAPPC11 were changed from congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness to congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness; Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356
Congenital muscular dystrophy v1.43 TRAPPC11 Louise Daugherty reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.24 TRAPPC11 Rachael Mein reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 26322222; Phenotypes: Congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract, infantile-onset muscle weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.23 TRAPPC11 Louise Daugherty Source NHS GMS was added to TRAPPC11.
Congenital muscular dystrophy v1.22 TRAPPC11 Louise Daugherty Source London South GLH was added to TRAPPC11.
Congenital muscular dystrophy TRAPPC11 Rebecca Foulger added TRAPPC11 to panel
Congenital muscular dystrophy TRAPPC11 Rebecca Foulger reviewed TRAPPC11