CHD5

chromodomain helicase DNA binding protein 5
OMIM: 610771, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber CHD5 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Phenotypes Parenti-Mignot neurodevelopmental syndrome, OMIM:610771 Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027 Tags watchlist
Red CHD5 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red DD-Gene2Phenotype Phenotypes CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy
Green CHD5 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.6 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes OMIM:610771 Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027
Green CHD5 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.9 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Parenti-Mignot neurodevelopmental syndrome, OMIM:610771 Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027