Genomics England
GMS Panels
Panels
Genes and Entities
THOC2
THO complex 2
OMIM:
300395
See this entity in PanelApp
Panel
Mode of inheritance
Details
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Intellectual disability - microarray and sequencing
Component of the following Super Panels:
- Childhood onset leukodystrophy
- Hypotonic infant
- Paediatric disorders
R-numbers:
R29
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 12/35, 300957