Genomics England

PGM1

phosphoglucomutase 1

OMIM: 171900

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type It, OMIM:614921
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type It, OMIM:14921
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of deglycosylation 615273
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT 614921
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT
Green in Glycogen storage disease R-numbers: R274 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type It 614921
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen Storage Disease, Congenital disorder of deglycosylation 615273, Glycogen storage disease type XIV (Glycogen storage disorders), Congenital disorder of glycosylation, type It, 614921, Glycogen Storage Disorders- Muscle, Glycogen Storage Disease Type XIV, Glycogen storage disease XIV, 612934
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type It 614921