Renal ciliopathies and nephronophthisis_KidGen_VCGS
Gene: IFT140EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 17 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Green
- OMIM
- 614620
- Clinvar variants
- Variants in IFT140
- Penetrance
- None
- Panels with this gene
-
- Skeletal ciliopathies
- Clefting
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Intellectual disability
- Retinal disorders
- Cystic kidney disease
- Respiratory ciliopathies including non-CF bronchiectasis
- Osteogenesis imperfecta
- Ductal plate malformation
- Fetal anomalies
- DDG2P
- Thoracic dystrophies
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: IFT140 was added gene: IFT140 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: IFT140 was set to Unknown