Ophthalmological ciliopathies
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
- None
- Publications
- 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
- Early onset or syndromic epilepsy
- Unexplained kidney failure in young people
- 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
8 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PMM2 was added gene: PMM2 was added to Ophthalmological ciliopathies. Sources: Literature,Expert Review Green Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 9140401 Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065