Disorder "Hearing Impairment"
Found 4 records
Disorder information
Disorder name:
Hearing Impairment
Disoder ID:
Definition:
A decreased magnitude of the sensory perception of sound.
Modifier statisitcs
Record:
4
Gene:
4
Variant:
4
Reference:
3
Effect type:
Expressivity(2)
,Penetrance(2)
Modifier effect:
Altered incidence(2)
,Altered gene activity(1)
,Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TFB1M | TFB1M:c.A1555G | Expressivity | Altered gene activity | NPL score of 1.7 (P=0.05), and a lod score of 1.4 (P=0.04) | Mitochondrial transcription factor B1 is a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.more | more |
| MYO7A | MYO7A:c.T(-4128) | Expressivity | Altered severity | Pedigree analysis | The T(-4128) SNP may be contributing to the severe hearing loss phenotype in the HL2 pedigree by reducing expression of the wild-type MYO7A allelemore | more |
| MT-ND6 | MT-ND6:n.14484T>C | Penetrance | Altered incidence | Pedigree analysis | The A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutationmore | more |
| 12SrRNA | 12SrRNA:c.A1555G | Penetrance | Altered incidence | Pedigree analysis | The A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutationmore | more |
Total 4,Each Page
,Jump To
Page