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Ciliopathies

Gene: IFT81

Green List (high evidence)
IFT81 (intraflagellar transport 81)
EnsemblGeneIds (GRCh38): ENSG00000122970
EnsemblGeneIds (GRCh37): ENSG00000122970
OMIM: 605489, Gene2Phenotype
IFT81 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported.
Created: 3 Jan 2020, 9:24 a.m. | Last Modified: 3 Jan 2020, 9:24 a.m.
Panel Version: 0.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895

Publications

Created: 3 Jan 2020, 9:24 a.m.
Last Modified: 3 Jan 2020, 9:24 a.m.
Panel version: 0.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
OMIM
605489
Clinvar variants
Variants in IFT81
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418

3 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418

3 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT81 were set to 27666822

3 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift81 has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift81 has been classified as Amber List (Moderate Evidence).

3 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift81 has been classified as Amber List (Moderate Evidence).

3 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift81 has been classified as Amber List (Moderate Evidence).

3 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT81 were set to

3 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895

3 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IFT81 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: IFT81 was added gene: IFT81 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IFT81 was set to Unknown