BARAITSER-WINTER SYNDROME 2
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
|
27240540 |
2016 |
BARAITSER-WINTER SYNDROME 2
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Rare ACTG1 variants in fetal microlissencephaly.
|
26188271 |
2015 |
BARAITSER-WINTER SYNDROME 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
|
25052316 |
2015 |
Deafness, Autosomal Dominant 20
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
|
25388789 |
2014 |
Deafness, Autosomal Dominant 20
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
|
22938506 |
2012 |
BARAITSER-WINTER SYNDROME 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
BARAITSER-WINTER SYNDROME 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
BARAITSER-WINTER SYNDROME 2
|
0.700 |
Biomarker
|
disease |
CLINGEN |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
Deafness, Autosomal Dominant 20
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
|
19477959 |
2009 |
Deafness, Autosomal Dominant 20
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.
|
18804074 |
2008 |
Deafness, Autosomal Dominant 20
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
|
16773128 |
2006 |
Deafness, Autosomal Dominant 20
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
|
13680526 |
2003 |
Deafness, Autosomal Dominant 20
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
|
14684684 |
2003 |
Deafness, Autosomal Dominant 20
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.
|
8941379 |
1996 |
BARAITSER-WINTER SYNDROME 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.
|
8941379 |
1996 |
Deafness, Autosomal Dominant 20
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Deafness, Autosomal Dominant 20
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Deafness, Autosomal Dominant 20
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
BARAITSER-WINTER SYNDROME 2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
BARAITSER-WINTER SYNDROME 2
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
hearing impairment
|
0.430 |
GeneticVariation
|
phenotype |
BEFREE |
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
|
19477959 |
2009 |
hearing impairment
|
0.430 |
GeneticVariation
|
phenotype |
BEFREE |
These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.
|
18804074 |
2008 |
hearing impairment
|
0.430 |
GeneticVariation
|
phenotype |
LHGDN |
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
|
14684684 |
2003 |
hearing impairment
|
0.430 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.
|
8941379 |
1996 |
hearing impairment
|
0.430 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|