Table 2.

Genes causing Usher syndrome^a

	Symbol	Location	Protein	Type of Usher syndrome	Other diseases	Mutations
1	ABHD12	2p11.21	Abhydrolase domain  containing protein  12	Autosomal  recessive type  3-like	Recessive PHARC  syndrome type	5
2	CDH23	10q22.1	Cadherin-like gene 23	Autosomal  recessive 1d;  digenic with  PCDH15	Recessive deafness  without retinitis  pigmentosa	167
3	CIB2	15q25.1	Calcium and integrin  binding family  member 2	Autosomal  recessive type 1J		7
4	CLRN1	3q25.1	Clarin-1	Autosomal  recessive type 3	Recessive retinitis  pigmentosa	see RP
5	DFNB31	9q32	Whirlin	Autosomal  recessive type 2	Recessive deafness  without retinitis  pigmentosa	13
6	GPR98	5q14.3	Monogenic audiogenic  seizure susceptibility  1 homolog	Autosomal  recessive type 2	Dominant/recessive  febrile convulsions	54
7	HARS	5q31.3	Histidyl-tRNA  synthetase	Autosomal  recessive	Recessive HARS  syndrome	2
8	MYO7A	11q13.5	myosin VIIA	Recessive type 1b;  recessive  USH3-like	Recessive deafness  without retinitis  pigmentosa	263
9	PCDH15	10q21.1	Protocadherin 15	Autosomal  recessive type 1f;  digenic with  CDH23	Recessive deafness  without retinitis  pigmentosa	52
10	USH1C	11p15.1	harmonin	Autosomal  recessive  Acadian	Recessive deafness  without retinitis  pigmentosa; recessive  RP with late-onset  hearing loss	26
11	USH1G	17q25.1	Human homolog of  mouse scaffold  protein containing  ankyrin repeats and  SAM domain	Autosomal  recessive Usher  syndrome		11
12	USH2A	1q41	Usherin	Autosomal  recessive type 2a	Recessive retinitis  pigmentosa	see RP
					Total	600

RP, retinitis pigmentosa.

^aTables are based on the RetNet database, http://www.sph.uth.tmc.edu/retnet/, accessed May 2013 (5), and the Human Gene Mutation Database, http://www.hgmd.cf.ac.uk/, accessed May 2013 (6). References are in RetNet. Some genes appear in more than one table so the sum total of distinct genes in the tables, 82, is less than the sum of the three tables together.