C2CD3

C2 calcium dependent domain containing 3
OMIM: 615944
PanelMode of inheritanceDetails
6 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OROFACIODIGITAL SYNDROME XIV, OFD14
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV, OMIM:615948, Orofaciodigital syndrome type 14, MONDO:0014413
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV, 615948, Joubert-related disorder
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
short-rib polydactyly syndromes (SRPS, MIM208500), MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD, ?Orofaciodigital syndrome XIV, 615948, Orofaciodigital syndromes (OFDS, MIM 311200)
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
short-rib polydactyly syndromes (SRPS, MIM208500), MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD, ?Orofaciodigital syndrome XIV, 615948, Orofaciodigital syndromes (OFDS, MIM 311200)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV 615948