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ID
44992
Description
Principal Investigator: Deborah Nickerson, PhD, Department of Genome Sciences, University of Washington, Seattle, WA, USA MeSH: Kabuki syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000295 The ultimate purpose of this research is to identify genes causing hereditary disorders. We are scaling a new approach to identify the candidate genes and gene mutations that underlie rare human Mendelian (a set of primary tenets relating to the transmission of hereditary characteristics from parent to child) diseases by using exome (protein coding segments of DNA) resequencing. The exome sequences of ten unrelated individuals with a diagnosis of Kabuki Syndrome (OMIM: 147920) were obtained by massively parallel DNA sequencing.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000295
Keywords
Versions (2)
- 6/23/22 6/23/22 - Dr. Christian Niklas
- 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder
Deborah Nickerson, PhD, Department of Genome Sciences, University of Washington, Seattle, WA, USA
Uploaded on
June 23, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000295 Next Generation Mendelian Genetics: Kabuki Syndrome
This is a subject phenotype table of unrelated subjects who have been diagnosed with Kabuki Syndrome. This table contains measurements for the presence and absence of atrial and ventricular septic defects, aortic coarctation, bicuspid valves, dysrhythmia, spleen/liver/kidney abnormality and dysfunction, hearing loss, preauricular pits tags, cleft and high arched palate, hypotonia, and developmental delay.
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent data table contains subject IDs, consent group information, and subject aliases.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This is a subject phenotype table of unrelated subjects who have been diagnosed with Kabuki Syndrome. This table contains measurements for the presence and absence of atrial and ventricular septic defects, aortic coarctation, bicuspid valves, dysrhythmia, spleen/liver/kidney abnormality and dysfunction, hearing loss, preauricular pits tags, cleft and high arched palate, hypotonia, and developmental delay.
- This sample attributes data table includes body site where sample was collected, analyte type, and tumor status.
Similar models
This is a subject phenotype table of unrelated subjects who have been diagnosed with Kabuki Syndrome. This table contains measurements for the presence and absence of atrial and ventricular septic defects, aortic coarctation, bicuspid valves, dysrhythmia, spleen/liver/kidney abnormality and dysfunction, hearing loss, preauricular pits tags, cleft and high arched palate, hypotonia, and developmental delay.
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent data table contains subject IDs, consent group information, and subject aliases.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This is a subject phenotype table of unrelated subjects who have been diagnosed with Kabuki Syndrome. This table contains measurements for the presence and absence of atrial and ventricular septic defects, aortic coarctation, bicuspid valves, dysrhythmia, spleen/liver/kidney abnormality and dysfunction, hearing loss, preauricular pits tags, cleft and high arched palate, hypotonia, and developmental delay.
- This sample attributes data table includes body site where sample was collected, analyte type, and tumor status.
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
SUBJID
Item
Deidentified subject ID
text
C2348585 (UMLS CUI [1,1])
C2346787 (UMLS CUI [1,2])
C2346787 (UMLS CUI [1,2])
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
Item
Presence or absence of bicuspid valves
text
C0149630 (UMLS CUI [1,1])
C0344987 (UMLS CUI [2,1])
C0344987 (UMLS CUI [2,1])
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
Item
Presence or absence of spleen or liver abnormality
text
C0700587 (UMLS CUI [1,1])
C4021780 (UMLS CUI [2,1])
C4021780 (UMLS CUI [2,1])
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
Item
Presence or absence of kidney structural abnormality
text
C4551596 (UMLS CUI [1,1])
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
Item
Presence or absence of kidney functional abnormality
text
C0151746 (UMLS CUI [1,1])
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
Item
Presence or absence of preauricular pits or tags
text
C1860816 (UMLS CUI [1,1])
C0266610 (UMLS CUI [2,1])
C0266610 (UMLS CUI [2,1])
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)
CL Item
present (1)
CL Item
not present (2)
CL Item
no data available (3)