Ciliopathies
Gene: PMM2EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 22 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Not a ciliopathy.Created: 6 May 2020, 10:13 a.m. | Last Modified: 6 May 2020, 10:13 a.m.
Panel Version: 0.112
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ia (MIM#212065)
Crystle Lee (Victorian Clinical Genetics Services)
Encodes for phosphomannomutase 2 required for glycosylation. Not a ciliopathy gene however CDG has many overlapping features with ciliopathy. Left as Amber.
PMID: 28108845: Review article. Well reported gene causing CDG. >700 patients reported
PMID: 25497157; Many patients reported. Similar features as ciliopathies
Sources: Expert ReviewCreated: 6 May 2020, 1:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ia (MIM#212065)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Congenital disorder of glycosylation, type Ia (MIM#212065)
- OMIM
- 601785
- Clinvar variants
- Variants in PMM2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Hyperinsulinism
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Hereditary Neuropathy - complex
- Lymphoedema_syndromic
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Regression
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Renal Macrocystic Disease
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pmm2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pmm2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: PMM2 was added gene: PMM2 was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 28108845 Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia (MIM#212065) Review for gene: PMM2 was set to AMBER