Genomics England
GMS Panels
Panels
Genes and Entities
CHD1
chromodomain helicase DNA binding protein 1
OMIM:
602118
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Panel
Mode of inheritance
Details
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1 panel
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in
DDG2P
Component of the following Super Panels:
- Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHD1-related neurodevelopment disorder