Arthrogryposis
Gene: PMM2
PMM2 (phosphomannomutase 2)
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 22 panels
1 review
Chirag Patel (Genetic Health Queensland)
Arthrogryposis reported
Sources: Expert listCreated: 22 Mar 2023, 11:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ia, OMIM #212065
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Congenital disorder of glycosylation, type Ia, OMIM #212065
- OMIM
- 601785
- Clinvar variants
- Variants in PMM2
- Penetrance
- None
- 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
23 Mar 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pmm2 has been classified as Green List (High Evidence).
22 Mar 2023, Gel status: 3
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pmm2 has been classified as Green List (High Evidence).
22 Mar 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PMM2 was added gene: PMM2 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, OMIM #212065 Review for gene: PMM2 was set to GREEN