Interstitial Lung Disease
Gene: PGM3
PGM3 (phosphoglucomutase 3)
EnsemblGeneIds (GRCh38): ENSG00000013375
EnsemblGeneIds (GRCh37): ENSG00000013375
OMIM: 172100, Gene2Phenotype
PGM3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000013375
EnsemblGeneIds (GRCh37): ENSG00000013375
OMIM: 172100, Gene2Phenotype
PGM3 is in 13 panels
1 review
Suzanna Lindsey-Temple (Liverpool Hospital)
PMID: 24698316 - 3 children (7-11yo) reported with HIES and bronchiectasis.
PMID: 24698316; 24589341 - 8 adults reported with HIES and moderate to severe bronchiectasis leading to death and lung transplant (<35yo).Created: 6 Nov 2021, 11:19 p.m. | Last Modified: 6 Nov 2021, 11:19 p.m.
Panel Version: 0.183
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HIES (Job syndrome); Bronchiectasis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Immunodeficiency 23, MIM# 615816
- HIES (Job syndrome)
- Bronchiectasis
- OMIM
- 172100
- Clinvar variants
- Variants in PGM3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hand and foot malformations
History Filter Activity
8 Nov 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pgm3 has been classified as Amber List (Moderate Evidence).
8 Nov 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pgm3 has been classified as Amber List (Moderate Evidence).
8 Nov 2021, Gel status: 0
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PGM3 were set to
8 Nov 2021, Gel status: 0
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816; HIES (Job syndrome); Bronchiectasis
6 Nov 2021, Gel status: 0
Created, Added New Source, Set mode of inheritance
Suzanna Lindsey-Temple (Liverpool Hospital)gene: PGM3 was added gene: PGM3 was added to Interstitial Lung Disease. Sources: Expert list Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal