Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Congenital hyperinsulinism v2.10 SLC16A1 Sarah Leigh edited their review of gene: SLC16A1: Added comment: After consultation with Helen Brittain (Genomics England Clinical Fellow) hyperinsulinism is not part of the presenting phenotype in the biallelic cases, therefore the correct mode of inheritance for this panel is monoallelic.; Changed phenotypes to: Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital hyperinsulinism v2.10 SLC16A1 Sarah Leigh Deleted their comment
Congenital hyperinsulinism v2.10 SLC16A1 Sarah Leigh Added comment: Comment on phenotypes: The phenotypes erythrocyte lactate transporter defect, OMIM:245340 and monocarboxylate transporter 1 deficiency, OMIM:616095 are also associated with SLC16A1 variants, however, these conditions are not relevant to this panel as they do not result in hyperinsulinism.
Congenital hyperinsulinism v2.10 SLC16A1 Sarah Leigh Phenotypes for gene: SLC16A1 were changed from Erythrocyte lactate transporter defect, OMIM:245340; Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021; Monocarboxylate transporter 1 deficiency, OMIM:616095 to Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021
Congenital hyperinsulinism v2.9 SLC16A1 Sarah Leigh Added comment: Comment on phenotypes: Hyperinsulinism, Dominant;Erythrocyte lactate transporter defect, 245340;Autosomal dominant exercise-induced hyperinsulinism
Congenital hyperinsulinism v2.9 SLC16A1 Sarah Leigh Phenotypes for gene: SLC16A1 were changed from Hyperinsulinism, Dominant; Erythrocyte lactate transporter defect, 245340; Autosomal dominant exercise-induced hyperinsulinism to Erythrocyte lactate transporter defect, OMIM:245340; Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021; Monocarboxylate transporter 1 deficiency, OMIM:616095
Congenital hyperinsulinism v2.8 SLC16A1 Sarah Leigh reviewed gene: SLC16A1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrocyte lactate transporter defect, OMIM:245340, Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021, Monocarboxylate transporter 1 deficiency, OMIM:616095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital hyperinsulinism v1.51 SLC16A1 Ivone Leong Phenotypes for gene: SLC16A1 were changed from Hyperinsulinism, Dominant; Erythrocyte lactate transporter defect, 245340 to Hyperinsulinism, Dominant; Erythrocyte lactate transporter defect, 245340; Autosomal dominant exercise-induced hyperinsulinism
Congenital hyperinsulinism v1.6 SLC16A1 Ivone Leong reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.5 SLC16A1 Ivone Leong Source NHS GMS was added to SLC16A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)