Genomics England
GMS Panels
Panels
Genes and Entities

IFT43

intraflagellar transport 43
OMIM: 614068
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOECTODERMAL DYSPLASIA TYPE 3 614099
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOECTODERMAL DYSPLASIA TYPE 3
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 3, 614099, Sensenbrenner syndrome, Short-rib thoracic dysplasia 18 with polydactyly, 617866
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 3, 614099, Sensenbrenner syndrome, Short-rib thoracic dysplasia 18 with polydactyly, 617866
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
Short-rib thoracic dysplasia 18 with polydactyly - 617866, ?Cranioectodermal dysplasia 3 - 614099