Genomics England
GMS Panels
Panels
Genes and Entities

IFT74

intraflagellar transport 74
OMIM: 608040
PanelMode of inheritanceDetails
5 panels
Green
in Bardet Biedl syndrome
R-numbers: R107
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Bardet-Biedl syndrome 20, 617119
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IFT74-associated ciliopathy, OMIM:617119
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 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 40, OMIM:619582, Joubert syndrome 40, MONDO:0030462
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Bardet-Biedl syndrome 20, 617119
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Bardet-Biedl syndrome 20, OMIM:617119