Skeletal ciliopathies

Gene: PMM2

Red List (low evidence)

PMM2 (phosphomannomutase 2)
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 23 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

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)

Red List (low evidence)

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)

Green List (high evidence)

Important ciliopathy differential diagnosis -can present with cerebellar hypoplasia and retinitis pigmentosa
Created: 26 Jan 2017, 10:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ia 212065

Publications

History Filter Activity

4 May 2024, Gel status: 1

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.

4 May 2024, Gel status: 1

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)

26 Jul 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_23_expert_review tag was added to gene: PMM2.

26 Jul 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_23_demote_red tag was added to gene: PMM2.

10 Jul 2019, Gel status: 3

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