GRHL2 Chromosome 8
Grainyhead like transcription factor 2
Upload your DNA to see your personal genotypes for variants in GRHL2.
What This Gene Does
The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]
Associated Conditions (7)
Inborn genetic diseases
Corneal dystrophy
posterior polymorphous
4
GRHL2-related disorder
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Autosomal dominant nonsyndromic hearing loss 28
Key Variants
RS140106332
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141136371
Conflicting classifications of pathogenicity
Inborn genetic diseases, Corneal dystrophy, posterior polymorphous
Health Risk
RS147703146
Conflicting classifications of pathogenicity
Health Risk
RS1811191593
Conflicting classifications of pathogenicity
Health Risk
RS200745936
Conflicting classifications of pathogenicity
Health Risk
RS371424751
Conflicting classifications of pathogenicity
Health Risk
RS55682875
Conflicting classifications of pathogenicity
GRHL2-related disorder, GRHL2-related disorder
Health Risk
RS776382416
Conflicting classifications of pathogenicity
Health Risk
RS1027822378
Likely pathogenic
Health Risk
RS1064797348
Likely pathogenic
Health Risk
RS1554579832
Likely pathogenic
Corneal dystrophy, Corneal dystrophy
Health Risk
RS2536796557
Likely pathogenic
GRHL2-related disorder, GRHL2-related disorder
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140106332 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141136371 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Corneal dystrophy, posterior polymorphous |
| RS147703146 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1811191593 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200745936 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371424751 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS55682875 | Health Risk | Conflicting classifications of pathogenicity | GRHL2-related disorder, GRHL2-related disorder |
| RS776382416 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1027822378 | Health Risk | Likely pathogenic | — |
| RS1064797348 | Health Risk | Likely pathogenic | — |
| RS1554579832 | Health Risk | Likely pathogenic | Corneal dystrophy, Corneal dystrophy |
| RS2536796557 | Health Risk | Likely pathogenic | GRHL2-related disorder, GRHL2-related disorder |
| RS2536894969 | Health Risk | Likely pathogenic | GRHL2-related disorder, GRHL2-related disorder |
| RS2536962966 | Health Risk | Likely pathogenic | — |
| RS587777737 | Health Risk | Likely pathogenic | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome |
| RS886044309 | Health Risk | Likely pathogenic | — |
| RS2536814870 | Health Risk | Pathogenic | — |
| RS2536859968 | Health Risk | Pathogenic | — |
| RS2536894997 | Health Risk | Pathogenic | — |
| RS372210965 | Health Risk | Pathogenic | — |
| RS398122997 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 28, Autosomal dominant nonsyndromic hearing loss 28 |
| RS398123006 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 28, Autosomal dominant nonsyndromic hearing loss 28 |
| RS587777738 | Health Risk | Pathogenic | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome |
| RS1554579819 | Health Risk | Pathogenic/Likely pathogenic | Corneal dystrophy, posterior polymorphous, 4 |
| RS1554579878 | Health Risk | Pathogenic/Likely pathogenic | Corneal dystrophy, posterior polymorphous, 4 |