Disorder "Holoprosencephaly"
Found 3 records
Disorder information
Disorder name:
Holoprosencephaly
Disoder ID:
OMIM entry:
Synonyms:
Holoprosencephaly sequence
Definition:
A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
Modifier statisitcs
Record:
3
Gene:
1
Variant:
3
Reference:
1
Effect type:
Expressivity(3)
Modifier effect:
Altered gene activity(3)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| BOC | BOC:c.1667G>A(p.G556E) | Expressivity | Altered gene activity | Gene activity study | modify the phenotype;functional analyses of HPE-associated BOC variants are most consistent with a modifier role.more | more |
| BOC:rs149038528 | Expressivity | Altered gene activity | Gene activity study | modify the phenotype;functional analyses of HPE-associated BOC variants are most consistent with a modifier role.more | more | |
| BOC:rs150200848 | Expressivity | Altered gene activity | Gene activity study | modify the phenotype;functional analyses of HPE-associated BOC variants are most consistent with a modifier role.more | more |
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