PMM2

phosphomannomutase 2
OMIM: 601785, Gene2Phenotype

21 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Green PMM2 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Literature Phenotypes Congenital disorder of glycosylation, type Ia, 212065 nonimmune hydrops fetalis CDG1A CDG 1a
Green PMM2 in Primary ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.71	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ia 212065
Green PMM2 in Congenital hyperinsulinism Level 2: Endocrinology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperinsulinemic Hypoglycaemia polycystic kidney disease
Green PMM2 in Congenital disorders of glycosylation Level 2: Metabolic Version 7.17 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Congenital disorder of glycosylation, type Ia 212065 Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation)
Red PMM2 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.125	review	Not set	Sources Eligibility statement prior genetic testing
Green PMM2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ia 212065 Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation)
Green PMM2 in Likely inborn error of metabolism Level 2: Metabolic Version 8.113 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 London North GLH NHS GMS Expert Review Green Phenotypes Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ia 212065
Green PMM2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.194 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION
Green PMM2 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Green PMM2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.508	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Congenital disorder of glycosylation, type Ia, 212065 Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy
Green PMM2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.192 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ia 212065
Green PMM2 in Intellectual disability Level 2: Developmental disorders Version 9.397 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type Ia, 212065 CONGENITAL DISORDERS OF GLYCOSYLATION
Green PMM2 in Primary lymphoedema Level 2: Cardiology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type Ia 212065
Green PMM2 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.182	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ia 212065
Red PMM2 in Proteinuric renal disease Level 2: Renal Version 5.10 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	Not set	Sources NHS GMS Expert Review Red Eligibility statement prior genetic testing Phenotypes Congenital disorder of glycosylation, type Ia #212065
Green PMM2 in Ophthalmological ciliopathies Level 2: Ophthalmology Version 5.22 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ia 212065
Green PMM2 in Neurological ciliopathies Level 2: Neurology Version 6.21 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ia 212065
Green PMM2 in Renal ciliopathies Level 2: Renal Version 4.23 Latest signed off version: v4.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ia 212065
Red PMM2 in Skeletal ciliopathies Level 2: Musculoskeletal Version 6.12 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, type Ia 212065
Green PMM2 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.45 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH 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
Red PMM2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.25 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Congenital disorder of glycosylation, type Ia 212065

PMM2

21 panels

Green PMM2 in Fetal hydrops

Sources

Phenotypes

Green PMM2 in Primary ovarian insufficiency

Sources

Phenotypes

Green PMM2 in Congenital hyperinsulinism

Sources

Phenotypes

Green PMM2 in Congenital disorders of glycosylation

Sources

Phenotypes

Red PMM2 in Unexplained kidney failure in young people

Sources

Green PMM2 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green PMM2 in Likely inborn error of metabolism

Sources

Phenotypes

Green PMM2 in Fetal anomalies

Sources

Phenotypes

Green PMM2 in DDG2P

Sources

Phenotypes

Green PMM2 in Hereditary neuropathy

Sources

Phenotypes

Green PMM2 in Early onset or syndromic epilepsy

Sources

Phenotypes

Green PMM2 in Intellectual disability

Sources

Phenotypes

Green PMM2 in Primary lymphoedema

Sources

Phenotypes

Green PMM2 in Rare multisystem ciliopathy disorders

Sources

Phenotypes

Red PMM2 in Proteinuric renal disease

Sources

Phenotypes

Green PMM2 in Ophthalmological ciliopathies

Sources

Phenotypes

Green PMM2 in Neurological ciliopathies

Sources

Phenotypes

Green PMM2 in Renal ciliopathies

Sources

Phenotypes

Red PMM2 in Skeletal ciliopathies

Sources

Phenotypes

Green PMM2 in Hereditary neuropathy or pain disorder

Sources

Phenotypes

Red PMM2 in Childhood onset dystonia, chorea or related movement disorder

Sources

Phenotypes