Usher Syndrome(Retinitis pigmentosa-deafness syndrome)
An Autosomal recessive mode(s) within the Eye disorders / Ear disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Eye disorders / Ear disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | USH2A/7399 | usherin | 1q41 | Chr1, NC_000001.11 (215622891..216423448, complement) |
800558 nt | 72 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | WHRN/25861 | whirlin | 9q32 | Chr9, NC_000009.12 (114402080..114505473, complement) |
103394 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | USH1G/124590 | USH1 protein network component sans | 17q25.1 | Chr17, NC_000017.11 (74916083..74923255, complement) |
7173 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CLRN1/7401 | clarin 1 | 3q25.1 | Chr3, NC_000003.12 (150926163..150972999, complement) |
46837 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | CDH23/64072 | cadherin related 23 | 10q22.1 | Chr10, NC_000010.11 (71396920..71815947) |
419028 nt | 71 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | PCDH15/65217 | protocadherin related 15 | 10q21.1 | Chr10, NC_000010.11 (53802771..55627942, complement) |
1825172 nt | 47 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | USH1C/10083 | USH1 protein network component harmonin | 11p15.1 | Chr11, NC_000011.10 (17493900..17544416, complement) |
50517 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | ADGRV1/84059 | adhesion G protein-coupled receptor V1 | 5q14.3 | Chr5, NC_000005.10 (90558797..91164437) |
605641 nt | 91 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | MYO7A/4647 | myosin VIIA | 11q13.5 | Chr11, NC_000011.10 (77128246..77215241) |
86996 nt | 56 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | HARS1/3035 | histidyl-tRNA synthetase 1 | 5q31.3 | Chr5, NC_000005.10 (140673905..140691370, complement) |
17466 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | PDZD7/79955 | PDZ domain containing 7 | 10q24.31 | Chr10, NC_000010.11 (101007679..101031129, complement) |
23451 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | CIB2/10518 | calcium and integrin binding family member 2 | 15q25.1 | Chr15, NC_000015.10 (78104606..78131535, complement) |
26930 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | PROM1/8842 | prominin 1 | 4p15.32 | Chr4, NC_000004.12 (15968228..16084023, complement) |
115796 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | ESPN/83715 | espin | 1p36.31 | Chr1, NC_000001.11 (6424776..6461370) |
36595 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | ARSG/22901 | arylsulfatase G | 17q24.2 | Chr17, NC_000017.11 (68259170..68452019) |
192850 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | SLC9B1/150159 | solute carrier family 9 member B1 | 4q24 | Chr4, NC_000004.12 (102885049..103019705, complement) |
134657 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |