Disorder "Digeorge Syndrome"
Found 2 records
Disorder information
Disorder name:
Digeorge Syndrome
Disoder ID:
OMIM entry:
Synonyms:
22q11.2 deletion syndrome,DiGeorge sequence,DiGeorge's syndrome,Pharyngeal pouch syndrome
Definition:
A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered effect of disease causing mutation(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SNAP29 | SNAP29:p.Gln106Arg | Expressivity | Altered effect of disease causing mutation | Assessment of genotype–phenotype associations | SNAP29 as a major modifier of variable expressivity in 22q11.2 DS patients.more | more |
| SNAP29:p.Pro10fs | Expressivity | Altered effect of disease causing mutation | Assessment of genotype–phenotype associations | SNAP29 as a major modifier of variable expressivity in 22q11.2 DS patients.more | more |
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