This Panel is marked as Deleted
Epileptic encephalopathy Victorian Clinical Genetics Services
Gene: PMM2
PMM2 (phosphomannomutase 2)
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 21 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 601785
- Clinvar variants
- Variants in PMM2
- Penetrance
- None
- Panels with this gene
-
- Congenital disorders of glycosylation
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal ciliopathies
- Primary lymphoedema
- Primary ovarian insufficiency
- Undiagnosed metabolic disorders
- Fetal hydrops
- Neurological ciliopathies
- Congenital hyperinsulinism
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Proteinuric renal disease
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Rare multisystem ciliopathy disorders
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)PMM2 was added to Epileptic encephalopathy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)PMM2 was created by Sarah Leigh