Red cell disorders
Gene: BPGMEnsemblGeneIds (GRCh38): ENSG00000172331
EnsemblGeneIds (GRCh37): ENSG00000172331
OMIM: 613896, Gene2Phenotype
BPGM is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mixture of mono-allelic and bi-allelic variants reported, MOI uncertain.
Sources: Expert listCreated: 15 Sep 2021, 4:43 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrocytosis, familial, 8, MIM# 222800
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Erythrocytosis, familial, 8, MIM# 222800
- OMIM
- 613896
- Clinvar variants
- Variants in BPGM
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bpgm has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bpgm has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BPGM was added gene: BPGM was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: BPGM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BPGM were set to 1421379; 27651169; 25015942 Phenotypes for gene: BPGM were set to Erythrocytosis, familial, 8, MIM# 222800 Review for gene: BPGM was set to AMBER