Renal ciliopathies

Gene: IFT172

Green List (high evidence)

IFT172 (intraflagellar transport 172)
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 17 panels

2 reviews

Catherine Snow (Genomics England)

Comment on list classification: A number of publications identify relationship of variants in IFT172 and phenotypes associated with Bardet-Biedl syndrome and Jeune and Mainzer-Saldino Syndromes, all are ciliopathy diseases. The range of phenotypes can result in serve skeletal and multiple affected organs but also includes a reported case of non-syndromic retinal dystrophy.
Sufficient numbers of unrelated individuals reported to have kidney dysfunction to include IFT172 as Green on the panel.
Created: 30 Mar 2020, 1:28 p.m. | Last Modified: 30 Mar 2020, 1:28 p.m.
Panel Version: 1.9

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Nephronophthisis is a recognised feature of this ciliopathy.
Sources: Expert list
Created: 3 Jan 2020, 4:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630

History Filter Activity

24 Jun 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: IFT172.

30 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: ift172 has been classified as Green List (High Evidence).

30 Mar 2020, Gel status: 0

Set publications

Catherine Snow (Genomics England)

Publications for gene: IFT172 were set to

3 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: IFT172 was added gene: IFT172 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Review for gene: IFT172 was set to GREEN