Melnick-Fraser Syndrome(Branchiootorenal dysplasia) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Multisystemic 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 | EYA1/2138 | EYA transcriptional coactivator and phosphatase 1 | 8q13.3 | Chr8, NC_000008.11 (71197433..71548094, complement) |
350662 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TFAP2A/7020 | transcription factor AP-2 alpha | 6p24.3 | Chr6, NC_000006.12 (10396677..10419659, complement) |
22983 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SIX1/6495 | SIX homeobox 1 | 14q23.1 | Chr14, NC_000014.9 (60643421..60649477, complement) |
6057 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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