CCDC22

coiled-coil domain containing 22
OMIM: 300859, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red CCDC22 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	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 0.418	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 1.1902	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 1.33 Component of the following Super Panels: Progressive Neurological Conditions	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 0.6063	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 1.255	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