List of diseases covered by Usher Syndrome NGS panel

Gene Condition
ABHD12 Polyneuropathy, hearing loss,
ataxia, retinitis pigmentosa, and cataract
ADGRV1 Usher syndrome, type 2C
CDH23 Usher syndrome, type 1D;
Deafness, autosomal recessive 12
CIB2 Usher syndrome, type IJ;
Deafness, autosomal recessive 48
CLRN1 Usher syndrome, type 3A;
Retinitis pigmentosa 61
COL4A6 Deafness, X-linked 6
DSPP Deafness, autosomal dominant 39,
with dentinogenesis
GIPC3 Deafness, autosomal recessive 15
HARS Usher syndrome type 3B
KARS Deafness, autosomal recessive 89
LHFPL5 Deafness, autosomal recessive 67
LOXHD1 Deafness, autosomal recessive 77
MYO7A Usher syndrome, type 1B;
Deafness, autosomal recessive 2; Deafness, autosomal dominant 11
PCDH15 Usher syndrome, type 1F;
Usher syndrome, type 1D/F digenic;
Deafness, autosomal recessive 23
PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic
TNC Deafness, autosomal dominant 56
USH2A Usher syndrome, type 2A; Retinitis pigmentosa 39
USH1C Usher syndrome, type 1C;
Deafness, autosomal recessive 18A
USH1G Usher syndrome, type 1G
WHRN Usher syndrome, type 2D;
Deafness, autosomal recessive 31