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  3. IFT172
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Severe early-onset obesity

Gene: IFT172

Green List (high 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)

Green List (high evidence)

Three families reported with a BBS phenotype. Gene is associated with other ciliopathies as well.
Sources: Expert list
Created: 1 Nov 2021, 5:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 20, MIM# 619471

Publications

Created: 1 Nov 2021, 5:44 a.m.

Panel version: 0.50

History Filter Activity

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Nov 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 Severe early-onset obesity. Sources: Expert list Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT172 were set to 30761183; 26763875; 25168386 Phenotypes for gene: IFT172 were set to Bardet-Biedl syndrome 20, MIM# 619471 Review for gene: IFT172 was set to GREEN