Hereditary Neuropathy - complex
Gene: PMM2EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 22 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Neuropathy can be present in the first decade of life during a nonfatal course of neurological phenotypes. Peripheral neuropathy can also be present in adulthood however it is variable is is often in the presence of retinis pigmentosa, myopia and other spinal deformities.
Neuropathy has been identified in some individuals with CDG however no genetic testing has been conducted.Created: 11 Aug 2023, 1:33 a.m. | Last Modified: 11 Aug 2023, 1:33 a.m.
Panel Version: 0.265
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 Green
- Royal Melbourne Hospital
- 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
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: pmm2 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: PMM2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PMM2 was added gene: PMM2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMM2 were set to Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy