CHD4

chromodomain helicase DNA binding protein 4
OMIM: 603277, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red CHD4 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Sifrim-Hitz-Weiss syndrome, MIM#617159
Green CHD4 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sifrim-Hitz-Weiss syndrome (MIM#617159)
Green CHD4 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Sifrim-Hitz-Weiss syndrome (MIM#617159)
Green CHD4 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sifrim-Hitz-Weiss syndrome, MIM 617159 Childhood idiopathic epilepsy and sinus arrhythmia
Amber CHD4 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Sifrim-Hitz-Weiss syndrome (MIM#617159)
Green CHD4 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Sifrim-Hitz-Weiss syndrome, MIM# 617159 Childhood idiopathic epilepsy and sinus arrhythmia
Green CHD4 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CHD4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Sifrim-Hitz-Weiss syndrome, MIM 617159
Amber CHD4 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Moya Moya Sifrim-Hitz-Weiss syndrome, MIM# 617159
Amber CHD4 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Sifrim-Hitz-Weiss syndrome, MIM 617159
Green CHD4 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert Review Amber Genetic Health Queensland Phenotypes Sifrim-Hitz-Weiss syndrome MONDO:0014946 Sifrim-Hitz-Weiss syndrome OMIM:617159