GALK1

galactokinase 1
OMIM: 604313, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green GALK1 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.26	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Galactokinase deficiency with cataracts, OMIM:230200 MONDO:0009255
Red GALK1 in Cholestasis Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Expert Review Phenotypes Galactokinase deficiency with cataracts, OMIM:230200 MONDO:0009255 Edit
Green GALK1 in Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Galactokinase deficiency with cataracts, 230200 Galactokinase deficiency with cataracts galactosemia II
Green GALK1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Literature Phenotypes Galactokinase deficiency with cataracts 230200
Green GALK1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 London North GLH NHS GMS Expert Review Green Phenotypes Galactokinase deficiency with cataracts, 230200
Green GALK1 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes GALACTOSEMIA II
Green GALK1 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALACTOSEMIA II 230200
Red GALK1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Galactokinase deficiency with cataracts, 230200
Red GALK1 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Galactokinase deficiency with cataracts, 230200
Red GALK1 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green GALK1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Galactokinase deficiency with cataracts, 230200