This Panel is marked as Internal
Renal and urinary tract disorders
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- 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
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Stuart: Not CAKUT gene renal phenotype
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: PMM2 was added gene: PMM2 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: PMM2 was set to Unknown