Genomics England

PMM2

phosphomannomutase 2

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ia 212065, Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation)
Green in Congenital hyperinsulinism R-numbers: R144 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperinsulinemic Hypoglycaemia, polycystic kidney disease
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ia 212065
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy, Congenital disorder of glycosylation, type Ia, 212065
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ia, 212065, CONGENITAL DISORDERS OF GLYCOSYLATION
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 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation), Congenital disorder of glycosylation, type Ia 212065
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ia 212065
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ia 212065
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ia 212065
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type Ia 212065