SKIN DISEASE MUTATION DATABASE

case submission form

Patient Demographics
  • Clinical Diagnosis
  • Laboratory Diagnosis
  • Genetics
  • Mutations
  • Method of Detection
  • Predicted Consequences of Mutations
  • Publication History
  • Submitter Information

    Patient Demographics (proband)

    Initials:

    Date of Birth: Race:

    Ethnic origin:


    Clinical Diagnosis

    Diagnosis:

    Clinical Variant:

    Brief Description of Diagnostic Clinical Features:

    Diagnosis Based on:

    Clinical observations only (give details):

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    Laboratory Diagnosis

    EM:

    Histology:

    Lab or other:

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    GENETICS

    Inheritance within the family: AD AR unknown

    XR XD sporadic

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    PEDIGREE

    Mother of proband: affected unaffected

    Father of proband: affected unaffected

    Siblings of proband:

    No. of affected males:

    No. of unaffected males:

    No. of affected females:

    No. of unaffected females:

    Offspring of proband:

    No. of affected males:

    No. of unaffected males:

    No. of affected females:

    No. of unaffected females:

    Other affected family members:

    Consanguinity: no yes

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    MUTATIONS

    Gene (formal designation only,e.g. COL7A1, LAMA3):

    Locus (chromosomal,e.g. 3p21, 18q11.2):

    Mutation A (maternal):

    Description:

    Designation:

    Sequence Variant is: pathogenic mutation polymorphism

    Mutation B (paternal):

    Description:

    Designation:

    Sequence Variant is pathogenic mutation polymorphism

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    Method of Detection

    Indicate general procedure and primer sequences; use an additional page if necessary:

    Confirmation in Genomic DNA: no yes (If yes, give method below)

    restriction enzyme ASO sequencing

    digestion other(describe)

    Details of method:

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    Predicted Consequences of Mutations

    Mutation A:

    Mutation B:

    Experimentally verified by studies of: mRNA protein

    neither

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    Publication History

    Published: no yes

    (If yes, give authors, title, and journal in full so that thewords can be used for retrieving this record)

    Authors:

    ,,,

    ,,,

    ,,.

    Title:

    Journal:

    Date of Publication:

    Up to six key words not in title (IMPORTANT, for retrieving this record):

    1: 2:

    3: 4:

    5: 6:

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    Submitter Information

    Comments:

    Submitted by:

    Database Coordinator:

    E-mail:

    Date of Submission:

    Institution:

    Date to release information:

    Date Initials:

    Address:

    Line 1:

    Line 2:

    City: State:

    Country: Zip:

    Area Code:

    Phone: Fax:

    Last Revised, 7/17/95, Rhett J. Drugge, M.D.