CHRND P250Q - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

CHRND P250Q

(CHRND Pro250Gln)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the CHRND gene
    CHRND-Related Congenital Myasthenic Syndrome
    CHRND-Related Multiple Pterygium Syndrome, Lethal Type
    Congenital Myasthenic Syndromes
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRND
    Web search results (6 hits -- see all)
  • OMIM: 100720
    ... 7 of the CHRND gene, resulting in a pro250-to-gln (P250Q) substitution at the penultimate ... expression studies showed that the P250Q mutation caused a decreased amplitude of ...
    www.genome.jp/dbget-bin/www_bget?omim+100720
  • CHRND mutation causes a congenital myasthenic syndrome by ...
    CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the ... homozygous fast-channel mutation P250Q in three Arab patients (Gomez ...
    brain.oxfordjournals.org/cgi/content/full/129/10/2784
  • CHRND mutation causes a congenital myasthenic syndrome by ...
    CHRND mutation causes a congenital myasthenic. syndrome by impairing co-clustering of the ... gene (CHRND) in a patient with sporadic congenital myasthenic ...
    brain.oxfordjournals.org/cgi/reprint/awl188v1.pdf
  • Congenital myasthenic syndrome caused by low-expressor fast ...
    Conclusions: P250Q represents the third mutation observed in the AChR subunit. ... CHRND mutation causes a congenital myasthenic syndrome by impairing co ...
    www.neurology.org/cgi/content/abstract/59/12/1881
  • Myasthenic Syndromes
    Delta subunits of AChR (CHRND) l Chromosome 2q33-q34. Mutation types: ... δ subunit mutation (P250Q): Recessive. δ subunit mutation (L42P): Fast channel (Short open ...
    neuromuscular.wustl.edu/synmg.html
  • WUSTL - Sindromi miasteniche
    Delta subunità degli AChR (CHRND) l Cromosoma 2q33-q34. Tipi di ... δ Subunità mutazione (P250Q): Recessiva. δ Subunità mutazione (L42P): Veloce canale (Breve ...
    www.fonama.org/i_neuro.wustl.edu/i_synmg.html

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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