Gene: USH2A

Alternate names for this Gene: RP39|US2|USH2|dJ1111A8.1

Gene Summary: This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q41

Description of this Gene: usherin

Type of Gene: protein-coding

Gene: LOC102723833

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs754768875 in USH2A;LOC102723833 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1162305984 in USH2A;LOC102723833 gene and RETINITIS PIGMENTOSA 39 (disorder) PMID 28000701 2017 The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

PMID 25425308 2014 Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

PMID 27318125 2016 A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 25575603 2015 Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

PMID 26310143 2015 Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.

PMID 26338283 2015 Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

PMID 24938718 2014 Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

rs754768875 in USH2A;LOC102723833 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1162305984 in USH2A;LOC102723833 gene and USHER SYNDROME, TYPE IIA PMID 27318125 2016 A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

PMID 25425308 2014 Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

PMID 28000701 2017 The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 25575603 2015 Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PMID 26310143 2015 Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

PMID 26338283 2015 Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

PMID 18273898 2008 Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

PMID 26927203 2016 Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

PMID 24938718 2014 Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs375668376 in USH2A;LOC102723833 gene and Usher Syndrome PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

PMID 26338283 2015 Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

PMID 26310143 2015 Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.