CCDC114

coiled-coil domain containing 114
OMIM: 615038, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red CCDC114 in Ductal plate malformation Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Phenotypes Ciliary dyskinesia, primary, 20 (615067) Tags new-gene-name
Green CCDC114 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.42	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name
Green CCDC114 in Laterality disorders and isomerism Version 3.9 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name
Green CCDC114 in Respiratory ciliopathies including non-CF bronchiectasis Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name
Green CCDC114 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags new-gene-name
Green CCDC114 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags new-gene-name
Red CCDC114 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name
Red CCDC114 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.172	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Expert list Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name
Green CCDC114 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name