Amelogenesis Imperfecta Type 1G(Enamel renal syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Oral disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Oral 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 | FAM20A/54757 | FAM20A golgi associated secretory pathway pseudokinase | 17q24.2 | Chr17, NC_000017.11 (68535116..68601367, complement) |
66252 nt | 16 | 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 |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |