Fetal hydrops
Gene: MUSK

MUSK (muscle associated receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000030304
EnsemblGeneIds (GRCh37): ENSG00000030304
OMIM: 601296, Gene2Phenotype
MUSK is in 4 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Hydrops/oedema reported in a number of affected individuals with this fetal akinesia condition.
Sources: Expert list
Created: 30 Dec 2019, 6:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 1, MIM# 208150

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Dec 2019, 6:57 a.m.

Panel version: 1.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

Fetal akinesia deformation sequence 1, MIM# 208150

OMIM

601296

Clinvar variants

Variants in MUSK

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: MUSK was added gene: MUSK was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUSK were set to 31750350; 25537362 Phenotypes for gene: MUSK were set to Fetal akinesia deformation sequence 1, MIM# 208150 Review for gene: MUSK was set to GREEN gene: MUSK was marked as current diagnostic

Fetal hydrops Gene: MUSK