Phagocyte Defects
Gene: MSN
MSN (moesin)
EnsemblGeneIds (GRCh38): ENSG00000147065
EnsemblGeneIds (GRCh37): ENSG00000147065
OMIM: 309845, Gene2Phenotype
MSN is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000147065
EnsemblGeneIds (GRCh37): ENSG00000147065
OMIM: 309845, Gene2Phenotype
MSN is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Seven males from five unrelated families reported. Profound lymphopaenia, fluctuating neutropaenia.
Sources: Expert listCreated: 10 Jan 2020, 2:37 a.m. | Last Modified: 26 Jul 2021, 3:11 a.m.
Panel Version: 0.99
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 50, MIM# 300988
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Expert list
- Phenotypes
-
- Immunodeficiency 50, MIM# 300988
- OMIM
- 309845
- Clinvar variants
- Variants in MSN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
26 Jul 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: msn has been classified as Green List (High Evidence).
22 Mar 2021, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: msn has been classified as Green List (High Evidence).
22 Mar 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MSN was added gene: MSN was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MSN were set to 27405666 Phenotypes for gene: MSN were set to Immunodeficiency 50, MIM# 300988