This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: PGM3
PGM3 (phosphoglucomutase 3)
EnsemblGeneIds (GRCh38): ENSG00000013375
EnsemblGeneIds (GRCh37): ENSG00000013375
OMIM: 172100, Gene2Phenotype
PGM3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000013375
EnsemblGeneIds (GRCh37): ENSG00000013375
OMIM: 172100, Gene2Phenotype
PGM3 is in 11 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
2 cases reported with skeletal anomalies resembling Desbuquois dysplasia. Immunedef is main phenotype? Several cases with variants but not known if SD is a major clinical feature.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 23 615816
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Immunodeficiency 23 615816
- OMIM
- 172100
- Clinvar variants
- Variants in PGM3
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Intellectual disability
- COVID-19 research
- Undiagnosed metabolic disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Severe multi-system atopic disease with high IgE
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
6 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PGM3 was added gene: PGM3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGM3 were set to Immunodeficiency 23 615816