| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital muscular dystrophy v4.7 | DTNA | Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: DTNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.5 | DTNA | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: DTNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.5 | DTNA |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence for this gene to be promoted to GREEN at the next major review. This gene has not yet been associated with muscular dystrophy phenotype either in OMIM or in G2P.; to: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence for this gene to be promoted to GREEN at the next major review. This gene has not yet been associated with muscular dystrophy phenotype either in OMIM or in Gene2Phenotype. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.5 | DTNA |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.; to: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence for this gene to be promoted to GREEN at the next major review. This gene has not yet been associated with muscular dystrophy phenotype either in OMIM or in G2P. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.5 | DTNA | Achchuthan Shanmugasundram Classified gene: DTNA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.5 | DTNA | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence for this gene to be promoted to GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.5 | DTNA | Achchuthan Shanmugasundram Gene: dtna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.4 | DTNA | Achchuthan Shanmugasundram reviewed gene: DTNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 36799992; Phenotypes: muscular dystrophy, MONDO:0020121; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.4 | DTNA | Achchuthan Shanmugasundram Phenotypes for gene: DTNA were changed from muscular dystrophy to muscular dystrophy, MONDO:0020121 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.3 | DTNA | Achchuthan Shanmugasundram Publications for gene: DTNA were set to 36799992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.3 | DTNA | Achchuthan Shanmugasundram Publications for gene: DTNA were set to 36799992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.2 | DTNA | Achchuthan Shanmugasundram Publications for gene: DTNA were set to 36799992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.2 | DTNA | Achchuthan Shanmugasundram Publications for gene: DTNA were set to PMID: 36799992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.1 | DTNA |
Anna Sarkozy gene: DTNA was added gene: DTNA was added to Congenital muscular dystrophy. Sources: Literature Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DTNA were set to PMID: 36799992 Phenotypes for gene: DTNA were set to muscular dystrophy Penetrance for gene: DTNA were set to unknown Mode of pathogenicity for gene: DTNA was set to Other Review for gene: DTNA was set to GREEN Added comment: Nascimento et al described four unrelated families (12 individuals in total) with monoallelic DTNA variants affecting the coiled-coil domain of α-dystrobrevin. the phenotype is characterised by myalgia, exercise intolerance with variable ages of onset, proximal lower limb weakness from first decade, raised CK levels and one report of rhabdomyolysis. Autism spectrum disorder and learning disabilities were also reported. Muscle biopsies showed mixed myopathic and dystrophic findings, with reduced α-dystrobrevin immunoreactivity and variably reduced immunoreactivity of other DGC proteins. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||