Skeletal ciliopathies
Gene: PMM2
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
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
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
Tag Q3_23_expert_review tag was added to gene: PMM2.
Tag Q3_23_demote_red tag was added to gene: PMM2.
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