Phenotypic Overviews

Phenotypic Overviews - Extended Clinical Documentation

For several disorders in the Human Genetic Cell Repository, there is extensive clinical documentation. In some cases the data have been collected in collaboration with patient sponsored efforts and in other cases it has been submitted by research investigators when they submitted the samples. In order to display the extensive data, Coriell has designed spreadsheets displaying the Repository reference number, cell type, family and member number, reference numbers for other available family members, age at diagnosis, age at time of specimen sampling, and mutation or cytogenetic data, when available.

The spreadsheets allow users to view the Repository's holdings for a particular diagnosis in a comprehensive fashion in contrast to individually viewing remarks for each cell line. Each spreadsheet is available for download to allow the user to view the full catalog description for samples of interest.

Disease Number of
unique subjects
Number of
affected subjects
Number with
clinical
information
Number with
mutations or
cytogenetic characterization
Number of
unique mutations
Clinical
Spreadsheet
18q- deletion syndrome 44 43 40 44 na  
Adrenoleukodystrophy
- Adrenoleukodystrophy/Adrenomyeloneuropathy
- Autosomal Neonatal Form
- Pseudoneonatal Form

15
8
5

11
8
4

11
8
4

1
0
0

1
0
0
Excel
Bloom Syndrome 19 19 19 19 13 Excel
Duchenne/Becker muscular dystrophy 51 35 27 17 12 Excel
Familial dysautonomia 85 32 23 17 1 Excel
Fanconi Anemia 25 24 20 5 5 Excel
Friedreich ataxia 50 26 26 37 have repeat data na Excel
Gaucher disease Type I
Gaucher disease Type II
Gaucher disease Type III
9
6
5
9
4
2
9
4
2
9
6
1
6
4
2
Excel
Glycogen storage disease II 27 21 21 12 13 Excel
MCAD 11 10 10 9 1 Excel
Niemann-Pick disease, type C (Type 1)
Niemann-Pick disease, type C (Type 2)
19
1
19
1
9
0
16
1
18
1
Excel
Osteogenesis Imperfecta Type IV 45 28 45 28 3 Excel
Rett syndrome 34 24 24 19 12 Excel
Williams-Beuren Syndrome 54 46 34 43 have deletions na Excel