CC2D2A

coiled-coil and C2 domain containing 2A
OMIM: 612013
PanelMode of inheritanceDetails
13 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME 9 612285, COACH SYNDROME 216360, MECKEL SYNDROME, TYPE 6 612284
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME 9, COACH SYNDROME, MECKEL SYNDROME, TYPE 6
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome 216360, Joubert syndrome 9 612285
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 9 612285
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 9, 612285Meckel syndrome 6, 612284COACH syndrome, 216360, MECKEL SYNDROME, TYPE 6, MKS6
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 9, COACH syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome 6, Meckel syndrome
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 9, COACH syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome 6, Meckel syndrome
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 9, COACH syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome 6, Meckel syndrome
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360, Joubert syndrome 9, 612285, Meckel syndrome 6, 612284, Eye Disorders
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 6 612284
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Joubert syndrome 9 612285, Meckel syndrome 6 612284