Genomics England
GMS Panels
Panels
Genes and Entities

C2CD3

C2 calcium dependent domain containing 3
OMIM: 615944
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OROFACIODIGITAL SYNDROME XIV, OFD14
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OROFACIODIGITAL SYNDROME XIV 615948
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV, OMIM:615948, Orofaciodigital syndrome type 14, MONDO:0014413
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV, 615948, Joubert-related disorder
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 6.0
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)
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 6.0
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)
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV 615948