Hearing Impairment
Product NameApplicationRegion
P153-EYA1 Branchiootorenal syndrome (BOR) EYA1 8q13.3
P163-GJB-WFS1-POU3F4CE Hearing loss; Wolfram syndrome type 1 GJB3 1p34.3; WFS1 4p16.1; POU3F4 region Xq21.1, 13q12 region
P186-PAX3-MITF-SOX10 Waardenburg syndrome type 1 (WS1), 2A (WS2A), 2E (WS2E), 3 (WS3), 4C (WS4C) PAX3 2q36.1; MITF 3p14.1; SOX10 22q13.1
P191-Alport-mix 1 Alport syndrome, X-linked COL4A5 Xq22.3
P192-Alport-mix 2 Alport syndrome, X-linked COL4A5 Xq22.3
P234-GATA3 - GATA4 Ventricular septal defect-1 (VSD1); Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome GATA4 8p23.1; GATA3 10p14
P280-SLC26A4 Pendred syndrome SLC26A4 7q22.3
P292-PCDH15 Usher syndrome type 1F (USH1F) PCDH15 10q21.1
P310-TCOF1 Treacher Collins-Franceschetti syndrome TCOF1 5q32-q33.1
P361-USH2A mix 1 Usher syndrome type II (USH2) USH2A 1q41
P362-USH2A mix 2 Usher syndrome type II (USH2) USH2A 1q41
P381-COL11A1 mix 1 Marshall syndrome; Stickler syndrome type II COL11A1 1p21.1
P382-COL11A1 mix 2 Marshall syndrome; Stickler syndrome type II COL11A1 1p21.1
P439-COL4A3 Alport syndrome COL4A3 2q36.3
P444-COL4A4 Alport syndrome COL4A4 2q36.3
P461-DIS Deafness Infertility Syndrome (DIS); Deafness 16, autosomal recessive (DFNB16); Deafness 22, autosomal recessive (DFNB22) STRC 15q15.3; CATSPER2 15q15.3; OTOA 16p12.2
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