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  3. IFT172
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Growth failure

Gene: IFT172

Red List (low evidence)
IFT172 (intraflagellar transport 172)
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Bi-allelic variants in this gene cause a range of ciliopathies. Single case report of a presentation with GH deficiency.
Created: 29 Aug 2021, 5:29 a.m. | Last Modified: 29 Aug 2021, 5:29 a.m.
Panel Version: 0.335

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GH deficiency

Publications

Created: 29 Aug 2021, 5:29 a.m.
Last Modified: 29 Aug 2021, 5:29 a.m.
Panel version: 0.335

History Filter Activity

29 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift172 has been classified as Red List (Low Evidence).

19 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT172 was added gene: IFT172 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT172 were set to 25664603 Phenotypes for gene: IFT172 were set to GH deficiency, retinopathy, metaphyseal dysplasia