CLCN4

chloride voltage-gated channel 4
OMIM: 302910, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CLCN4 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.205	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Raynaud-Claes syndrome, MIM# 300114 autism intellectual disability hypoplasia or agenesis of the corpus callosum bipolar
Red CLCN4 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Raynaud-Claes syndrome MIM#300114
Green CLCN4 in Mendeliome Version 1.2302	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Raynaud-Claes syndrome, MIM#300114 intellectual disability epilepsy autistic features mood disorders cerebral white matter changes progressive appendicular spasticity
Green CLCN4 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Raynaud-Claes syndrome, MIM#300114 intellectual disability epilepsy autistic features mood disorders cerebral white matter changes progressive appendicular spasticity
Green CLCN4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Phenotypes Raynaud-Claes syndrome, MIM#300114 intellectual disability epilepsy autistic features mood disorders cerebral white matter changes progressive appendicular spasticity
Green CLCN4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Mackenzie's Mission Phenotypes Raynaud-Claes syndrome, MIM #300114
Green CLCN4 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Mackenzie's Mission Phenotypes Raynaud-Claes syndrome, MIM #300114