Panel: DD Gene: MSL3 Disease: MSL3 syndrome

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Gene: MSL3

Location
Synonyms
MSL3L1
OMIM MIM
300609
Ensembl stable ID
ENSG00000005302
Variant information
ClinVar Decipher
Protein information
Decipher

Genome-wide significance
Minimum P-value 8.9E-10 from testing the DDD dataset. Source

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Gene-Disease Attributes

Disease confidence
confirmed
Allelic requirement
x-linked dominant
Mutation consequence summary
loss of function

Publications

Phenotypes

Look up phenotypes associated with MSL3 in Decipher

Feeding difficulties in infancy Intellectual disability Progressive spasticity

Organ specificity

  • Brain/Cognition

Edit organ specificity list:


Bone Marrow/Immune
Brain/Cognition
Cancer predisposition
Ear
Endocrine
Endocrine/Metabolic
Eye
Face
GI tract
Genitalia
Hair/Nails
Heart/Cardiovasculature/Lymphatic
Kidney Renal Tract
Liver
Lungs
Multisystem
Musculature
Peripheral nerves
Respiratory tract
Skeleton
Skin
Spinal cord/Peripheral nerves
Teeth and Dentition