Genomics England
GMS Panels
Panels
Genes and Entities
USP27X
ubiquitin specific peptidase 27, X-linked
OMIM:
300975
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Panel
Mode of inheritance
Details
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DDG2P
Component of the following Super Panels:
- Paediatric disorders
Signed-off version 4.15
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
INTELLECTUAL DISABILITY