Goldenhar Syndrome Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Bone 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 | SF3B2/10992 | splicing factor 3b subunit 2 | 11q13.1 | Chr11, NC_000011.10 (66052364..66069308) |
16945 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ZYG11B/79699 | zyg-11 family member B, cell cycle regulator | 1p32.3 | Chr1, NC_000001.11 (52726453..52827336) |
100884 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | FOXI3/344167 | forkhead box I3 | 2p11.2 | Chr2, NC_000002.12 (88446787..88452693, complement) |
5907 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |