Hyperinsulinemic Hypoglycemia, Familial, 1(Congenital isolated hyperinsulinism)
An Autosomal dominant, Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Metabolic 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 | ABCC8/6833 | ATP binding cassette subfamily C member 8 | 11p15.1 | Chr11, NC_000011.10 (17392498..17476845, complement) |
84348 nt | 38 | 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