Leucine-induced Hypoglycemia(Familial infantile hypoglycemia precipitated by leucine)
An Autosomal dominant mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal dominant 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: GTR MalaCards NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |