GUK1

guanylate kinase 1
OMIM: 139270, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber GUK1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial DNA depletion syndrome 21, OMIM:621071 Tags Q3_25_promote_green
Amber GUK1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial DNA depletion syndrome 21, OMIM:621071 mitochondrial dna depletion syndrome 21, MONDO:0976132 Tags Q3_25_promote_green
Red GUK1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 21
Amber GUK1 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial DNA depletion syndrome 21, OMIM:621071 mitochondrial dna depletion syndrome 21, MONDO:0976132 Tags Q3_25_promote_green Q3_25_NHS_review