Genomics England
GMS Panels
Panels
Genes and Entities

IFT122

intraflagellar transport 122
OMIM: 606045
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOECTODERMAL DYSPLASIA 218330
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia type 1 OMIM:218330, cranioectodermal dysplasia 1 MONDO:0021093
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia type 1 OMIM:218330, cranioectodermal dysplasia 1 MONDO:0021093
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
Cranioectodermal dysplasia, Cranioectodermal dysplasia 1, 218330
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia, Cranioectodermal dysplasia 1, 218330
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
Cranioectodermal dysplasia 1 218330