CCDC22:Ensemblv90

coiled-coil domain containing 22
OMIM: 300859, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red CCDC22 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.405	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Ritscher-Schinzel syndrome 2, MIM#300963
Green CCDC22 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.511	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Ritscher-Schinzel syndrome 2, MIM# 300963
Green CCDC22 in Mendeliome Version 1.3802	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ritscher-Schinzel syndrome 2, MIM# 300963
Red CCDC22 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.309 Component of the following Super Panels: Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Ritscher-Schinzel syndrome 2 MIM#300963
Green CCDC22 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Ritscher-Schinzel syndrome 2, MIM# 300963
Green CCDC22 in Fetal anomalies Version 1.482	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Ritscher-Schinzel syndrome 2, MIM# 300963
Red CCDC22 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Expert Review Red Phenotypes Ritscher-Schinzel syndrome 2, MIM#300963
Green CCDC22 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Ritscher-Schinzel syndrome 2, MIM# 300963
Green CCDC22 in Fetal anomalies Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Genomics England PanelApp Expert Review Green Phenotypes Ritscher-Schinzel syndrome 2, MIM# 300963