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  3. IFT80
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Ciliopathies

Gene: IFT80

Green List (high evidence)
IFT80 (intraflagellar transport 80)
EnsemblGeneIds (GRCh38): ENSG00000068885
EnsemblGeneIds (GRCh37): ENSG00000068885
OMIM: 611177, Gene2Phenotype
IFT80 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 unrelated families reported.
Created: 4 Jul 2021, 5:09 a.m. | Last Modified: 4 Jul 2021, 5:09 a.m.
Panel Version: 0.385

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263

Publications

Created: 4 Jul 2021, 5:09 a.m.
Last Modified: 4 Jul 2021, 5:09 a.m.
Panel version: 0.385

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263
  • MONDO:0012644
OMIM
611177
Clinvar variants
Variants in IFT80
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT80 were changed from Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263 to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644

4 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift80 has been classified as Green List (High Evidence).

4 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT80 were changed from to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263

4 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT80 were set to

4 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IFT80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT80 was added gene: IFT80 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IFT80 was set to Unknown