Disorder "1q21.1 microdeletion syndrome"
Found 5 records
Disorder information
Disorder name:
1q21.1 microdeletion syndrome
Disoder ID:
OMIM entry:
Synonyms:
Monosomy 1q21.1, Del(1)(q21)
Definition:
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
Modifier statisitcs
Record:
5
Gene:
5
Variant:
5
Reference:
1
Effect type:
Expressivity(5)
Modifier effect:
Altered severity(5)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| WNK3 | WNK3:rs377088498 | Expressivity | Altered severity | Pedigree analysis and gene activity study | Mutations in five genes (SMPD1, WNK3, NOS1, ATF6, and EFHC1) that could contribute to the more severe phenotype in the probands in comparison to their mildly affected or unaffected 1q21.1 CNV carrying relatives.more | more |
| SMPD1 | SMPD1:rs199836262 | Expressivity | Altered severity | Pedigree analysis and gene activity study | Mutations in five genes (SMPD1, WNK3, NOS1, ATF6, and EFHC1) that could contribute to the more severe phenotype in the probands in comparison to their mildly affected or unaffected 1q21.1 CNV carrying relatives.more | more |
| NOS1 | NOS1:c.1A-G(p.M1V) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Mutations in five genes (SMPD1, WNK3, NOS1, ATF6, and EFHC1) that could contribute to the more severe phenotype in the probands in comparison to their mildly affected or unaffected 1q21.1 CNV carrying relatives.more | more |
| EFHC1 | EFHC1:rs373625101 | Expressivity | Altered severity | Pedigree analysis and gene activity study | Mutations in five genes (SMPD1, WNK3, NOS1, ATF6, and EFHC1) that could contribute to the more severe phenotype in the probands in comparison to their mildly affected or unaffected 1q21.1 CNV carrying relatives.more | more |
| ATF6 | ATF6:rs797045171 | Expressivity | Altered severity | Pedigree analysis and gene activity study | Mutations in five genes (SMPD1, WNK3, NOS1, ATF6, and EFHC1) that could contribute to the more severe phenotype in the probands in comparison to their mildly affected or unaffected 1q21.1 CNV carrying relatives.more | more |
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