Initials:
Date of Birth: Brief Description of Diagnostic Clinical Features:
Diagnosis Based on:
Clinical observations only (give details):
Main Menu
EM:
Histology:
Lab or other:
Inheritance within the family: AD AR unknown
XR XD sporadic
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:
Other affected family members:
Consanguinity: no yes
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):
Sequence Variant is pathogenic mutation polymorphism
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:
Mutation A:
Mutation B:
Experimentally verified by studies of: mRNA protein
neither
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 thisrecord):
1: 2:
3: 4:
5: 6:
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.
Patient Demographics