C2CD3

C2 calcium dependent domain containing 3
OMIM: 615944
PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OROFACIODIGITAL SYNDROME XIV, OFD14
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
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 1.2
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV 615948