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Mendeliome

Gene: MSN

Green List (high evidence)

MSN (moesin)
EnsemblGeneIds (GRCh38): ENSG00000147065
EnsemblGeneIds (GRCh37): ENSG00000147065
OMIM: 309845, Gene2Phenotype
MSN is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven males from five unrelated families reported. Profound lymphopaenia, fluctuating neutropaenia, recurrent bacterial or varicella zoster virus (VZV) infections in early childhood.
Created: 26 Jul 2021, 3:13 a.m. | Last Modified: 26 Jul 2021, 3:13 a.m.
Panel Version: 0.8518

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
  • Victorian Clinical Genetics Services
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).

26 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MSN were changed from to Immunodeficiency 50, MIM# 300988

26 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MSN were set to

26 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MSN was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MSN was added gene: MSN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MSN was set to Unknown