Spina Bifida-Hypospadias Syndrome(Spina bifida hypospadias)
An Unknown mode(s) within the Nephrological disorders category
Candidate Gene Information
An Unknown mode(s) within the Nephrological 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 | VANGL1/81839 | VANGL planar cell polarity protein 1 | 1p13.1 | Chr1, NC_000001.11 (115641970..115698221) |
56252 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | VANGL2/57216 | VANGL planar cell polarity protein 2 | 1q23.2 | Chr1, NC_000001.11 (160400564..160428670) |
28107 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | FUZ/80199 | fuzzy planar cell polarity protein | 19q13.33 | Chr19, NC_000019.10 (49806866..49813553, complement) |
6688 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CELSR1/9620 | cadherin EGF LAG seven-pass G-type receptor 1 | 22q13.31 | Chr22, NC_000022.11 (46361174..46537620, complement) |
176447 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |