DIAPH1 Chromosome 5
Diaphanous related formin 1
Upload your DNA to see your personal genotypes for variants in DIAPH1.
What This Gene Does
This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Armadillo like helical domain containing|Formins"
Locus Type
gene with protein product
Location
5q31.3
Ensembl
ENSG00000131504
Associated Conditions (19)
Autosomal dominant nonsyndromic hearing loss 1
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Inborn genetic diseases
DIAPH1-related disorder
Familial pancreatic carcinoma
Colorectal cancer
See cases
Beta-D-mannosidosis
Macrothrombocytopenia
Hearing impairment
Neonatal seizure
Pendred syndrome
Auditory neuropathy spectrum disorder
Deafness
Rare genetic deafness
Global developmental delay
Microcephaly
Epilepsy
Failure to thrive
Key Variants
RS1284785470
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
Health Risk
RS1335130331
Conflicting classifications of pathogenicity
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Health Risk
RS1356596414
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
Health Risk
RS1455848656
Conflicting classifications of pathogenicity
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Health Risk
RS1474809251
Conflicting classifications of pathogenicity
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Inborn genetic diseases
Health Risk
RS148686869
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 1, Autosomal dominant nonsyndromic hearing loss 1
Health Risk
RS1596330487
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
Health Risk
RS182139018
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, DIAPH1-related disorder
Health Risk
RS189809247
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, DIAPH1-related disorder
Health Risk
RS190481949
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Inborn genetic diseases
Health Risk
RS193036129
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Familial pancreatic carcinoma
Health Risk
RS199749212
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, DIAPH1-related disorder
Health Risk
All Variants (99)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS773243948 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Inborn genetic diseases |
| RS773440011 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS777195456 | Health Risk | Conflicting classifications of pathogenicity | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Inborn genetic diseases |
| RS781577050 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Beta-D-mannosidosis |
| RS886060034 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS1596335566 | Health Risk | Likely pathogenic | Macrothrombocytopenia, Hearing impairment, Macrothrombocytopenia |
| RS1596339533 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Autosomal dominant nonsyndromic hearing loss 1 |
| RS1596393434 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS1596421912 | Health Risk | Likely pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS2099887720 | Health Risk | Likely pathogenic | Neonatal seizure, Neonatal seizure |
| RS2099887774 | Health Risk | Likely pathogenic | — |
| RS2099896905 | Health Risk | Likely pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS2154596304 | Health Risk | Likely pathogenic | Pendred syndrome, Pendred syndrome |
| RS2154596416 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS2154596613 | Health Risk | Likely pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS2513627688 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS2513764771 | Health Risk | Likely pathogenic | Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder |
| RS758562288 | Health Risk | Likely pathogenic | DIAPH1-related disorder, DIAPH1-related disorder |
| RS763349669 | Health Risk | Likely pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS774337037 | Health Risk | Likely pathogenic | — |
| RS1057524293 | Health Risk | Pathogenic | — |
| RS1064794044 | Health Risk | Pathogenic | — |
| RS1064797096 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Autosomal dominant nonsyndromic hearing loss 1 |
| RS1331356644 | Health Risk | Pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS1378791199 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS1455361577 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS1461242879 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS1476157529 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS1554201397 | Health Risk | Pathogenic | — |
| RS2099888710 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS2099895754 | Health Risk | Pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS2154596284 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS2154596448 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS2154596461 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS2154597562 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS2513621738 | Health Risk | Pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS2513738067 | Health Risk | Pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS2513746067 | Health Risk | Pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS2513850974 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS369494682 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, DIAPH1-related disorder |
| RS753100456 | Health Risk | Pathogenic | Neonatal seizure, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Neonatal seizure |
| RS755174598 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS766545876 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS771360300 | Health Risk | Pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS863225242 | Health Risk | Pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS863225243 | Health Risk | Pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Deafness, Autosomal dominant nonsyndromic hearing loss 1 |
| RS876657776 | Health Risk | Pathogenic | Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS1235751512 | Health Risk | Pathogenic/Likely pathogenic | Hearing impairment, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS730882242 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Microcephaly, Epilepsy |