Renal ciliopathies

Gene: IFT140

Green List (high evidence)

IFT140 (intraflagellar transport 140)
EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 16 panels

2 reviews

Catherine Snow (Genomics England)

Comment on list classification: Sufficient publications and external expert review an association of IFT140 variants and ciliopathic renal phenotype to rate IFT140 as Green.
Created: 30 Mar 2020, 1:39 p.m. | Last Modified: 30 Mar 2020, 1:39 p.m.
Panel Version: 1.10
Comment on list classification: Sufficient publications and external expert review an association of IFT140 variants and ciliopathic renal phenotype to rate IFT140 as Green.
Created: 30 Mar 2020, 1:39 p.m. | Last Modified: 30 Mar 2020, 1:39 p.m.
Panel Version: 1.10

chirag patel (Genetic Health Queensland)

Green List (high evidence)

Renal ciliopathy gene with phenotype of Mainzer-Saldino syndrome.

Nephronophthisis reported in multiple cases, with functional evidence (Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype).
Sources: Expert Review
Created: 3 Jan 2020, 4:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM #266920 (aka Mainzer-Saldino syndrome)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM #266920 (aka Mainzer-Saldino syndrome)
Tags
for-review
OMIM
614620
Clinvar variants
Variants in IFT140
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jun 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: IFT140.

30 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: ift140 has been classified as Green List (High Evidence).

30 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: ift140 has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 0

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

chirag patel (Genetic Health Queensland)

gene: IFT140 was added gene: IFT140 was added to Renal ciliopathies. Sources: Expert Review Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT140 were set to PMID: 22503633, 23418020, 29706353 Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM #266920 (aka Mainzer-Saldino syndrome) Review for gene: IFT140 was set to GREEN