gene2phenotype

For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome

Gene: MSL3 Disease: MSL3 syndrome

Allelic requirement: monoallelic_X_het
Mutation consequence summary: absent gene product

Variant consequence: loss_of_function_variant

Panel	Confidence category
DD	definitive

Gene: MSL3

Location

Synonyms: MSL3L1
OMIM MIM: 300609
Ensembl stable ID: ENSG00000005302
Variant information: ClinVar DECIPHER
Protein information: DECIPHER

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Disease: MSL3 syndrome

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Publications

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. (Nat Genet 50: 1442-1451, 2018)

Phenotypes

Look up phenotypes associated with MSL3 in DECIPHER