|
Pena-Shokeir syndrome type I
|
0.650 |
Biomarker
|
disease |
BEFREE |
FADS has been reported to be caused by pathogenic variants in genes previously associated with CMS including these involved in endplate development and maintenance: MuSK, DOK7, and RAPSN.
|
31730230 |
2020 |
|
Pena-Shokeir syndrome type I
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
In the first family, FADS relates to a homozygous c.484G > A (p.Glu162Lys) mutation in the gene RAPSN.
|
28495245 |
2017 |
|
Pena-Shokeir syndrome type I
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
|
25792100 |
2015 |
|
Pena-Shokeir syndrome type I
|
0.650 |
Biomarker
|
disease |
BEFREE |
The provided diagnoses included osteogenesis imperfecta II (COL1A2), glycogen storage disease IV (GBE1), oral-facial-digital syndrome 1 (OFD1), and RAPSN-associated fetal akinesia deformation sequence.
|
26147564 |
2015 |
|
Pena-Shokeir syndrome type I
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
|
24319099 |
2014 |
|
Pena-Shokeir syndrome type I
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.
|
25194721 |
2014 |
|
Pena-Shokeir syndrome type I
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.
|
21305573 |
2011 |
|
Pena-Shokeir syndrome type I
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
Pena-Shokeir syndrome type I
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.
|
20157724 |
2010 |
|
Pena-Shokeir syndrome type I
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Pena and Shokeir described the phenotype of two sisters in 1974, and subsequently their features have become recognized as a sequence of deformational changes related to decreased or absent fetal movement (fetal akinesia deformation sequence [FADS]), because of the work of Moessinger (1983).
|
19645055 |
2009 |
|
Pena-Shokeir syndrome type I
|
0.650 |
GeneticVariation
|
disease |
CLINVAR |
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
|
19620612 |
2009 |
|
Pena-Shokeir syndrome type I
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that mutations in acetylcholine receptor-related genes might also result in a MPS/fetal akinesia phenotype and so we analyzed 15 cases of lethal MPS/fetal akinesia without CHRNG mutations for mutations in the CHRNA1, CHRNB1, CHRND, and rapsyn (RAPSN) genes.
|
18179903 |
2008 |
|
Pena-Shokeir syndrome type I
|
0.650 |
GermlineCausalMutation
|
disease |
ORPHANET |
We hypothesized that mutations in acetylcholine receptor-related genes might also result in a MPS/fetal akinesia phenotype and so we analyzed 15 cases of lethal MPS/fetal akinesia without CHRNG mutations for mutations in the CHRNA1, CHRNB1, CHRND, and rapsyn (RAPSN) genes.
|
18179903 |
2008 |
|
Pena-Shokeir syndrome type I
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We hypothesized that mutations in acetylcholine receptor-related genes might also result in a MPS/fetal akinesia phenotype and so we analyzed 15 cases of lethal MPS/fetal akinesia without CHRNG mutations for mutations in the CHRNA1, CHRNB1, CHRND, and rapsyn (RAPSN) genes.
|
18179903 |
2008 |
|
Pena-Shokeir syndrome type I
|
0.650 |
GeneticVariation
|
disease |
CLINVAR |
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
|
17594401 |
2007 |
|
Pena-Shokeir syndrome type I
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
|
16945936 |
2006 |
|
Pena-Shokeir syndrome type I
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
|
14504330 |
2003 |
|
Pena-Shokeir syndrome type I
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
|
12796535 |
2003 |
|
Pena-Shokeir syndrome type I
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
|
11791205 |
2002 |
|
Pena-Shokeir syndrome type I
|
0.650 |
Biomarker
|
disease |
HPO |
|
|
|
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
|
24319099 |
2014 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.
|
25194721 |
2014 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.
|
22678886 |
2012 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.
|
21305573 |
2011 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |