Home -> Deafness Gene Mutation Database

Do you want to be the curator for your favorite gene? Contact us and we'll get you started.

Do you have a new mutation to add to the database? Contact the gene curator (given below) and we'll update the site.

Do you have a new gene to add to the database? Contact us and we'll start a new page for you.

Questions? Corrections? Comments? Let us know.

GENE

LOCUS or SYNDROME

LAST UPDATED

CURATOR

 

 

 

 

CDH23

DFNB12

9/18/2002

Robin Williamson

 

Usher Syndrome, Type 1D

9/18/2002

Robin Williamson

 

 

 

 

CLD14

DFNB29

9/18/2002

Robin Williamson

 

 

 

 

COCH

DFNA9

9/18/2002

Robin Williamson

 

 

 

 

COL2A1

Achondrogenesis II

9/18/2002

Robin Williamson

 

Hypochondrogenesis

9/18/2002

Robin Williamson

 

Kniest Dysplasia

9/18/2002

Robin Williamson

 

Spondylarthopathy

9/18/2002

Robin Williamson

 

Spondyloepiphyseal Dysplasia

9/18/2002

Robin Williamson

 

Stickler Syndrome, Type I

9/18/2002

Robin Williamson

 

 

 

 

COL4A3

Alport Syndrome

9/18/2002

Robin Williamson

 

Benign Familial Hematuria

9/18/2002

Robin Williamson

 

 

 

 

COL4A4

Alport Syndrome

9/18/2002

Robin Williamson

 

Alport Syndrome Dominant

9/18/2002

Robin Williamson

 

Benign Familial Hematuria

9/18/2002

Robin Williamson

 

Thin Basement Membrane Disease

9/18/2002

Robin Williamson

 

 

 

 

COL4A5

Alport Syndrome

9/18/2002

Robin Williamson

 

 

 

 

COL11A1

Stickler Syndrome, Type II

9/18/2002

Robin Williamson

 

Marshall Syndrome

9/18/2002

Robin Williamson

 

 

 

 

COL11A2

DFNA13

9/18/2002

Robin Williamson

 

Osteochondrodysplasia

9/18/2002

Robin Williamson

 

Otospondylomegaepiphyseal Dysplasia

9/18/2002

Robin Williamson

 

Stickler Syndrome, Type III

9/18/2002

Robin Williamson

 

Weissenbacher-Zweymuller Syndrome

9/18/2002

Robin Williamson

 

 

 

 

DDP (TIMM8A)

DFN1 = Mohr-Tranebjaerg

9/18/2002

Robin Williamson

 

 

 

 

DFNA5

DFNA5

9/18/2002

Robin Williamson

 

 

 

 

DSPP

DFNA39 -Dentinogenesis Imperfecta 1

9/18/2002

Robin Williamson

 

 

 

 

EDN3

Central Hypoventilation Syndrome

9/18/2002

Robin Williamson

 

Hirschsprung Disease

9/18/2002

Robin Williamson

 

Waardenburg IV

9/18/2002

Robin Williamson

 

 

 

 

EDNRB

Hirschsprung Disease

9/18/2002

Robin Williamson

 

Waardenburg IV

9/18/2002

Robin Williamson

 

 

 

 

EYA1

Brachiooto Syndrome

9/18/2002

Robin Williamson

 

Brachiootorenal Syndrome

9/18/2002

Robin Williamson

 

Iris Anomaly

9/18/2002

Robin Williamson

 

Peters' anomaly with cataracts

9/18/2002

Robin Williamson

 

 

 

 

EYA4

DFNA10

9/18/2002

Robin Williamson

 

 

 

 

FLJ13782

DFNA28

9/18/2002

Robin Williamson

 

 

 

 

GJA1

Recessive Hearing Loss

9/18/2002

Robin Williamson

 

Heart Malformations?

9/18/2002

Robin Williamson

 

 

 

 

GJB2

DFNA3

9/18/2002

Connexins and Deafness Webpage

 

DFNB1

9/18/2002

Connexins and Deafness Webpage

 

Keratitis-Ichthyosis-Deafness Syndrome

9/18/2002

Connexins and Deafness Webpage

 

Palmoplantar Hyperkeratosis

9/18/2002

Connexins and Deafness Webpage

 

Palmoplantar Keratoderma

9/18/2002

Connexins and Deafness Webpage

 

Vohwinkel's Syndrome

9/18/2002

Connexins and Deafness Webpage

 

 

 

 

GJB3

DFNA2

9/18/2002

Robin Williamson

 

Erythrokeratodermia Variabilis

9/18/2002

Robin Williamson

 

Neuropathy and Hearing Impairment

9/18/2002

Robin Williamson

 

Recessive Deafness

9/18/2002

Robin Williamson

 

 

 

 

GJB6

DFNA3

9/18/2002

Robin Williamson

 

Hidrotic Ectodermal Dysplasia (Clouston Syndrome)

9/18/2002

Robin Williamson

 

 

 

 

HDIA1 (DIAPH1)

DFNA1

9/18/2002

Robin Williamson

 

 

 

 

KCNE1/IsK

Jervell and Lange-Nielson Syndrome

9/18/2002

Robin Williamson

 

Long QT Syndrome

9/18/2002

Robin Williamson

 

 

 

 

KCNQ1

Jervell and Lange-Nielson Syndrome

9/18/2002

Robin Williamson

 

Long QT Syndrome

9/18/2002

Robin Williamson

 

 

 

 

KCNQ4

DFNA2

9/18/2002

Robin Williamson

 

 

 

 

MITF

Tietz Syndrome

9/18/2002

Robin Williamson

 

Waardenburg II

9/18/2002

Robin Williamson

 

 

 

 

MYH9

Alport Syndrome with macrothrombocytopenia (MYH9)

9/18/2002

Robin Williamson

 

DFNA17

9/18/2002

Robin Williamson

 

Epstein Syndrome

9/18/2002

Robin Williamson

 

Fechtner Syndrome

9/18/2002

Robin Williamson

 

May-Hegglin Anomaly/ Sebastian Syndrome

9/18/2002

Robin Williamson

 

 

 

 

MYO3A

DFNB30

9/18/2002

Robin Williamson

 

 

 

 

MYO6

DFNA22

9/18/2002

Robin Williamson

 

 

 

 

MYO7A

DFNA11