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Kidneyome_SuperPanel_VCGS

Gene: IFT81

Red List (low evidence)

IFT81 (intraflagellar transport 81)
EnsemblGeneIds (GRCh38): ENSG00000122970
EnsemblGeneIds (GRCh37): ENSG00000122970
OMIM: 605489, Gene2Phenotype
IFT81 is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • KidGen_CilioNephronop v38.1.0
  • Expert Review Red
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly
  • OMIM #617895
OMIM
605489
Clinvar variants
Variants in IFT81
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: IFT81 was added gene: IFT81 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Red,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT81 were set to 26275418 Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly; OMIM #617895