Genomics England
GMS Panels
Panels
Genes and Entities
CHD8
chromodomain helicase DNA binding protein 8
OMIM:
610528
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
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in
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Overgrowth with Intellectual disability