Unexplained kidney failure in young people
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
-
- Eligibility statement prior genetic testing
- OMIM
- 601785
- Clinvar variants
- Variants in PMM2
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Proteinuric renal disease
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Rare multisystem ciliopathy disorders
- Primary lymphoedema
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Hereditary neuropathy
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Early onset or syndromic epilepsy
- DDG2P
- Primary ovarian insufficiency
- Intellectual disability
- Fetal hydrops
- Congenital hyperinsulinism
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Skeletal ciliopathies
- Neurological ciliopathies
History Filter Activity
17 Aug 2016, Gel status: 0
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
16 May 2016, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)PMM2 was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)PMM2 was created by sleigh