|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
|
22499103 |
2012 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
|
22402862 |
2012 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
|
22980763 |
2012 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
|
22194990 |
2011 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
|
21186264 |
2011 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
|
21186264 |
2011 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].
|
21739273 |
2011 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To date, the only reported human mutations in this family of genes are dominant mutations in ANO5 (TMEM16E, GDD1) in the rare skeletal disorder gnathodiaphyseal dysplasia.
|
20096397 |
2010 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gnathodiaphyseal dysplasia is a rare autonomic dominant syndrome due to a mutation of the TMEM16E gene.
|
20005074 |
2010 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
To date, the only reported human mutations in this family of genes are dominant mutations in ANO5 (TMEM16E, GDD1) in the rare skeletal disorder gnathodiaphyseal dysplasia.
|
20096397 |
2010 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, the only reported human mutations in this family of genes are dominant mutations in ANO5 (TMEM16E, GDD1) in the rare skeletal disorder gnathodiaphyseal dysplasia.
|
20096397 |
2010 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
To date, the only reported human mutations in this family of genes are dominant mutations in ANO5 (TMEM16E, GDD1) in the rare skeletal disorder gnathodiaphyseal dysplasia.
|
20096397 |
2010 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito.
|
15124103 |
2004 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito.
|
15124103 |
2004 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Osteogenesis imperfecta, Levin type
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Osteogenesis imperfecta, Levin type
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Miyoshi Muscular Dystrophy 3
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in anoctamin-5 (ANO5) are causative for limb-girdle muscular dystrophy (LGMD) 2 L and non-dysferlin Miyoshi-like distal myopathy (MMD3).
|
31350120 |
2019 |
|
Miyoshi Muscular Dystrophy 3
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3-5/LGMD2C-E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (<1%).
|
30919934 |
2019 |
|
Miyoshi Muscular Dystrophy 3
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
|
Miyoshi Muscular Dystrophy 3
|
0.740 |
Biomarker
|
disease |
BEFREE |
Recently mutations were identified in ANO5 causing LGMD2L and Miyoshi-like myopathy (MMD3), but could also be found in patients with hyperCKemia only.
|
23607914 |
2013 |
|
Miyoshi Muscular Dystrophy 3
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
|
22499103 |
2012 |
|
Miyoshi Muscular Dystrophy 3
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study.
|
22980764 |
2012 |
|
Miyoshi Muscular Dystrophy 3
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
We have identified recessive mutations in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families.
|
20096397 |
2010 |
|
Miyoshi Muscular Dystrophy 3
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
We have identified recessive mutations in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families.
|
20096397 |
2010 |