×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
0.700
Biomarker
GENOMICS_ENGLAND
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
26463574
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
0.700
Biomarker
GENOMICS_ENGLAND
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
26912466
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610
Biomarker
GENOMICS_ENGLAND
Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
27707755
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610
Biomarker
GENOMICS_ENGLAND
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
26463574
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610
Biomarker
GENOMICS_ENGLAND
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
26912466
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
Global developmental delay
0.400
Biomarker
GENOMICS_ENGLAND
Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay , and bronchiectasis.
26463574
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
hearing impairment
0.310
Biomarker
GENOMICS_ENGLAND
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
26463574
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay , and bronchiectasis.
26463574
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
Intellectual Disability
0.300
Biomarker
GENOMICS_ENGLAND
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
26463574
2016