Congenital muscular dystrophy
Gene: DTNA
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.Created: 28 Mar 2023, 7:14 p.m. | Last Modified: 28 Mar 2023, 7:16 p.m.
Panel Version: 4.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
muscular dystrophy, MONDO:0020121
Publications
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: LiteratureCreated: 24 Mar 2023, 10:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
muscular dystrophy
Publications
Mode of pathogenicity
Other
Tag Q1_23_NHS_review tag was added to gene: DTNA.
Tag Q1_23_promote_green tag was added to gene: DTNA.
Gene: dtna has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DTNA were changed from muscular dystrophy to muscular dystrophy, MONDO:0020121
Publications for gene: DTNA were set to 36799992
Publications for gene: DTNA were set to 36799992
Publications for gene: DTNA were set to 36799992
Publications for gene: DTNA were set to PMID: 36799992
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