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Congenital muscular dystrophy v7.18 TRAPPC2L Ida Ertmanska changed review comment from: Comment on list classification: While there are 4 unrelated families reported with biallelic TRAPPC2L variants, the main clinical presentation was global developmental delay. Episodic rhabdomyolysis was noted in 2 patients (homozygous for the same variant), and congenital hypotonia with elevated CK was seen in a third family. However, more evidence is required to confirm that these patients have TRAPPC2L-related congenital myopathy. Hence, this gene should remain Amber with the current evidence.; to: Comment on list classification: While there are 4 unrelated families reported with biallelic TRAPPC2L variants, the main clinical presentation was global developmental delay. Episodic rhabdomyolysis was noted in 2 patients (homozygous for the same variant), and congenital hypotonia with elevated CK was seen in a third family. However, more evidence is required to confirm that these patients have TRAPPC2L-related muscular dystrophy. Hence, this gene should remain Amber with the current evidence.
Congenital muscular dystrophy v7.18 TRAPPC2L Ida Ertmanska Phenotypes for gene: TRAPPC2L were changed from to encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, MONDO:0032681; Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331
Congenital muscular dystrophy v7.17 TRAPPC2L Ida Ertmanska Publications for gene: TRAPPC2L were set to
Congenital muscular dystrophy v7.16 TRAPPC2L Ida Ertmanska Classified gene: TRAPPC2L as Amber List (moderate evidence)
Congenital muscular dystrophy v7.16 TRAPPC2L Ida Ertmanska Added comment: Comment on list classification: While there are 4 unrelated families reported with biallelic TRAPPC2L variants, the main clinical presentation was global developmental delay. Episodic rhabdomyolysis was noted in 2 patients (homozygous for the same variant), and congenital hypotonia with elevated CK was seen in a third family. However, more evidence is required to confirm that these patients have TRAPPC2L-related congenital myopathy. Hence, this gene should remain Amber with the current evidence.
Congenital muscular dystrophy v7.16 TRAPPC2L Ida Ertmanska Gene: trappc2l has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v7.15 TRAPPC2L Ida Ertmanska reviewed gene: TRAPPC2L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30120216, 32843486, 36849228; Phenotypes: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v7.9 TRAPPC2L Anna Sarkozy reviewed gene: TRAPPC2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v7.8 TRAPPC2L Arina Puzriakova Classified gene: TRAPPC2L as No list
Congenital muscular dystrophy v7.8 TRAPPC2L Arina Puzriakova Gene: trappc2l has been removed from the panel.
Congenital muscular dystrophy v7.7 TRAPPC2L Arina Puzriakova gene: TRAPPC2L was added
gene: TRAPPC2L was added to Congenital muscular dystrophy. Sources: NHS GMS
Mode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal