Genomics England

CC2D2A

coiled-coil and C2 domain containing 2A

OMIM: 612013

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Meckel syndrome 6, 612284, MKS6, Meckel-Gruber syndrome
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME 9 612285, COACH SYNDROME 216360, MECKEL SYNDROME, TYPE 6 612284
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COACH syndrome 216360, Joubert syndrome 9 612285
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME 9, COACH SYNDROME, MECKEL SYNDROME, TYPE 6
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 9, OMIM:612285
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 9, 612285Meckel syndrome 6, 612284COACH syndrome, 216360, MECKEL SYNDROME, TYPE 6, MKS6
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 9, COACH syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome 6, Meckel syndrome
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 9, COACH syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome 6, Meckel syndrome
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 9, COACH syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome 6, Meckel syndrome
Green in Retinal disorders R-numbers: R32 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COACH syndrome, 216360, Joubert syndrome 9, 612285, Meckel syndrome 6, 612284, Eye Disorders
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Meckel syndrome 6 612284
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COACH syndrome, 216360