CHD4

chromodomain helicase DNA binding protein 4
OMIM: 603277, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red CHD4 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 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 0.474	1 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 Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Sifrim-Hitz-Weiss syndrome, MIM #617159
Green CHD4 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.151	1 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 1.3512	3 reviews	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 1.357	2 reviews	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 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	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 0.565	0 reviews	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 1.410	1 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 1.9 Component of the following Super Panels: Progressive Neurological Conditions	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services 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 0.278	1 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 1.465	3 reviews	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