Rare multisystem ciliopathy 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
1 review
Alice Gardham (Genomics England)
Important ciliopathy differential diagnosis -can present with cerebellar hypoplasia and retinitis pigmentosaCreated: 26 Jan 2017, 10:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ia 212065
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Congenital disorder of glycosylation, type Ia 212065
- OMIM
- 601785
- Clinvar variants
- Variants in PMM2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal ciliopathies
- Hereditary neuropathy or pain disorder
- Ophthalmological ciliopathies
- Likely inborn error of metabolism
- Primary lymphoedema
- Primary ovarian insufficiency
- Undiagnosed metabolic disorders
- Intellectual disability
- Congenital disorders of glycosylation
- Fetal hydrops
- Congenital hyperinsulinism
- Renal ciliopathies
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Proteinuric renal disease
- DDG2P
- Neurological ciliopathies
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Rare multisystem ciliopathy disorders
History Filter Activity
26 Jan 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
26 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
26 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
26 Jan 2017, Gel status: 0
Created
Alice Gardham (Genomics England)PMM2 was created by agardham
26 Jan 2017, Gel status: 0
Added New Source
Alice Gardham (Genomics England)PMM2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Literature