DEAFNESS, AUTOSOMAL RECESSIVE 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
|
21660509 |
2011 |
DEAFNESS, AUTOSOMAL RECESSIVE 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
|
21326233 |
2011 |
DEAFNESS, AUTOSOMAL RECESSIVE 15
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.
|
9286457 |
1997 |
DEAFNESS, AUTOSOMAL RECESSIVE 15
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 15
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 15
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
hearing impairment
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.
|
9286457 |
1997 |
hearing impairment
|
0.400 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Nonsyndromic Deafness
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GIPC3 have been shown to underlie the nonsyndromic hearing impairment linked to these loci.
|
25296581 |
2014 |
Nonsyndromic Deafness
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.
|
23510777 |
2013 |
Nonsyndromic Deafness
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations of the GIPC3 or MYO6 gene cause nonsyndromic hearing loss.
|
23743496 |
2013 |
Nonsyndromic Deafness
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
|
21660509 |
2011 |
Nonsyndromic Deafness
|
0.350 |
Biomarker
|
disease |
CLINGEN |
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
|
21326233 |
2011 |
Nonsyndromic Deafness
|
0.350 |
Biomarker
|
disease |
CLINGEN |
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
|
21660509 |
2011 |
Nonsyndromic Deafness
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
|
17690910 |
2007 |
Sensorineural Hearing Loss (disorder)
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing.
|
29605370 |
2018 |
Sensorineural Hearing Loss (disorder)
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.
|
25296581 |
2014 |
Sensorineural Hearing Loss (disorder)
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Biallelic GIPC3 mutations have recently been reported to cause autosomal recessive nonsyndromic sensorineural hearing loss.
|
22363784 |
2012 |
Sensorineural Hearing Loss (disorder)
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
|
21326233 |
2011 |
Sensorineural Hearing Loss (disorder)
|
0.140 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Prelingual sensorineural hearing impairment
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Auditory neuropathy spectrum disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the proband, the targeted NGS panel revealed five suspected variants in four genes (OTOF, EYA4, PCDH15, and GIPC3), of which two mutations-c.5098G > C (p.Glu1700Gln) and c.1702C > T (p.Arg568Trp)-in the OTOF gene were found to be correlated with ANSD.
|
30368385 |
2018 |
Nodular Sclerosis Classical Hodgkin Lymphoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The presence of the GIPC3 mutations in only one of 100 Saudi families with congenital NSHL suggests that it appears to be a rare cause of familial or sporadic deafness in this population.
|
23510777 |
2013 |
Familial (FPAH)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The presence of the GIPC3 mutations in only one of 100 Saudi families with congenital NSHL suggests that it appears to be a rare cause of familial or sporadic deafness in this population.
|
23510777 |
2013 |
Seizures
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures (juvenile audiogenic monogenic seizure 1, jams1) in mice and autosomal recessive deafness DFNB15 and DFNB95 in humans.
|
21326233 |
2011 |