Genomics England
GMS Panels
Panels
Genes and Entities

IFT81

intraflagellar transport 81
OMIM: 605489
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895, Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485
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
Short-rib thoracic dysplasia 19 with or without polydactyly, 617895
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 19 with or without polydactyly -617895, Short-Rib Polydactyly Syndrome