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 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) 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 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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