Skeletal ciliopathies
Gene: PMM2EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 21 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.Created: 4 May 2024, 3:45 p.m. | Last Modified: 4 May 2024, 3:46 p.m.
Panel Version: 4.3
Zornitza Stark (Australian Genomics)
Not a ciliopathy and features do not particularly overlap skeletal ciliopathies, more neurological/ophthalmological.Created: 24 May 2020, 11:29 a.m. | Last Modified: 24 May 2020, 11:29 a.m.
Panel Version: 1.3
Phenotypes
Congenital disorder of glycosylation, type Ia, MIM# 212065
Eleanor Williams (Genomics England Curator)
After reviewing the literature no patients were found with a skeletal phenotype so demotion to red on this panel is recommended. This has been confirmed with a Genomics England clinician. It is represented on the other ciliopathy panels, so shouldn't be missed for relevant phenotypes. It was initially added as a ciliopathy mimic.Created: 26 Jul 2023, 2:26 p.m. | Last Modified: 26 Jul 2023, 2:26 p.m.
Panel Version: 3.9
Leaving this gene on the skeletal ciliopathies panel only. It has been assessed by Rhoda Akilapa and was not thought suitable for the skeletal dysplasia panel.Created: 15 Nov 2019, 12:40 p.m. | Last Modified: 15 Nov 2019, 12:40 p.m.
Panel Version: 0.19
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
-
- NHS GMS
- Expert Review Red
- 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
- 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
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_expert_review was removed from gene: PMM2. Tag Q3_23_demote_red was removed from gene: PMM2.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Red was added to PMM2. Source NHS GMS was added to PMM2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_23_expert_review tag was added to gene: PMM2.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_23_demote_red tag was added to gene: PMM2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PMM2 was added gene: PMM2 was added to Skeletal 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