GSDME Chromosome 7
Gasdermin E
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What This Gene Does
Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gasdermins
Locus Type
gene with protein product
Location
7p15.3
Ensembl
ENSG00000105928
Associated Conditions (7)
Autosomal dominant nonsyndromic hearing loss 5
Inborn genetic diseases
GSDME-related disorder
Hearing impairment
Nonsyndromic genetic hearing loss
Rare genetic deafness
Monogenic hearing loss
Key Variants
RS138980048
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
Health Risk
RS140666247
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 5
Health Risk
RS144651293
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146399987
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148716975
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
Health Risk
RS149956122
Conflicting classifications of pathogenicity
GSDME-related disorder, GSDME-related disorder
Health Risk
RS1554325967
Conflicting classifications of pathogenicity
Health Risk
RS1789680416
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1790597003
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
Health Risk
RS199971778
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 5
Health Risk
RS200205042
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
Health Risk
RS200758965
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138980048 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS140666247 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 5 |
| RS144651293 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146399987 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148716975 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS149956122 | Health Risk | Conflicting classifications of pathogenicity | GSDME-related disorder, GSDME-related disorder |
| RS1554325967 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1789680416 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1790597003 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS199971778 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 5 |
| RS200205042 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS200758965 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS202227661 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 5 |
| RS368035633 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS369689648 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373787249 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 5 |
| RS376564087 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Hearing impairment, Inborn genetic diseases |
| RS534396774 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 5 |
| RS546120306 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS573258363 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, GSDME-related disorder, Inborn genetic diseases |
| RS727502954 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752065719 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS753365638 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases |
| RS754443945 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755613828 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, GSDME-related disorder, Autosomal dominant nonsyndromic hearing loss 5 |
| RS757421220 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS758488919 | Health Risk | Conflicting classifications of pathogenicity | Nonsyndromic genetic hearing loss, GSDME-related disorder, Nonsyndromic genetic hearing loss |
| RS762708893 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763468767 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS767060533 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS771064257 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777359423 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS777408599 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2128047712 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS1562687295 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS1562687726 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS2534973457 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS727505273 | Health Risk | Pathogenic | Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 5, Monogenic hearing loss |
| RS1554322596 | Health Risk | Pathogenic/Likely pathogenic | — |