GCK

glucokinase
OMIM: 138079, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
No list GCK in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes MODY, type II, 125851 Diabetes mellitus, noninsulin-dependent, late onset, 125853 Diabetes mellitus, gestational, 125851 Hyperinsulinemic hypoglycemia, familial, 3, 602485 Diabetes mellitus, permanent neonatal, 606176 Maturity Onset Diabetes of the Young Permanent Neonatal Diabetes Mellitus Transient Neonatal Diabetes, Recessive Maturity Onset Diabetes of the Young (MODY) Monogenic Diabetes Maturity-Onset Diabetes Of The Young Neonatal Diabetes Tags curated_removed
Green GCK in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes MODY, type II, 125851 Diabetes mellitus, noninsulin-dependent, late onset, 125853 Diabetes mellitus, gestational, 125851 Hyperinsulinemic hypoglycemia, familial, 3, 602485 Diabetes mellitus, permanent neonatal, 606176 Maturity Onset Diabetes of the Young Permanent Neonatal Diabetes Mellitus Transient Neonatal Diabetes, Recessive Maturity-onset diabetes of the young (MODY) Maturity-Onset Diabetes Of The Young Permanent neonatal diabetes MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 MODY2
Green GCK in Neonatal diabetes Level 2: Endocrinology Version 5.17 Latest signed off version: v5.0 (7 Aug 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes MODY, type II, OMIM:125851 Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853 Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485 Diabetes mellitus, permanent neonatal 1, OMIM:606176 Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (recessive)
Green GCK in Congenital hyperinsulinism Level 2: Endocrinology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Hyperinsulinism, Dominant MODY, type II, 125851
Green GCK in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Maturity-onset diabetes of the young (MODY) Maturity Onset Diabetes of the Young MODY, type II, 125851 Transient Neonatal Diabetes, Recessive Permanent Neonatal Diabetes Mellitus (recessive) Maturity Onset Diabetes of the Young (Dominant)
Green GCK in Monogenic diabetes Level 2: Endocrinology Version 3.10 Latest signed off version: v3.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485 Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853 MODY, type II, OMIM:125851 Diabetes mellitus, permanent neonatal 1, OMIM:606176
Red GCK in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services
Green GCK in Glucokinase-related fasting hyperglycaemia Level 2: Endocrinology Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes MODY, type II, OMIM:125851 Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853 Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485 Diabetes mellitus, permanent neonatal 1, OMIM:606176 maturity-onset diabetes of the young type 2, MONDO:0007453 permanent neonatal diabetes mellitus 1, MONDO:0100165 hyperinsulinism due to glucokinase deficiency, MONDO:0011236