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  3. IFT81
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Retinal disorders

Gene: IFT81

Amber List (moderate evidence)
IFT81 (intraflagellar transport 81)
EnsemblGeneIds (GRCh38): ENSG00000122970
EnsemblGeneIds (GRCh37): ENSG00000122970
OMIM: 605489, Gene2Phenotype
IFT81 is in 6 panels

2 reviews

Zornitza Stark (Australian Genomics)

I don't know

Gene has been predominantly associated with severe short-rib thoracic dysplasia with no retinopathy reported. Isolated retinopathy reported in one individual, PMID 28460050, and an NCL-like phenotype in another in PMID 26275418. Overall, good evidence this is a ciliopathy gene, but moderate evidence for retinal phenotype.
Created: 12 Oct 2020, 12:04 a.m. | Last Modified: 12 Oct 2020, 12:04 a.m.
Panel Version: 2.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 12 Oct 2020, 12:04 a.m.
Last Modified: 12 Oct 2020, 12:04 a.m.
Panel version: 2.17

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Created: 27 Dec 2019, 9:10 a.m.
Last Modified: 27 Dec 2019, 9:10 a.m.
Panel version: 2.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • RetNet
  • Expert Review Amber
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895,MONDO:0033485
OMIM
605489
Clinvar variants
Variants in IFT81
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895,MONDO:0033485

7 Jan 2021, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: IFT81 was changed from to BIALLELIC, autosomal or pseudoautosomal

7 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IFT81 were set to

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: IFT81 was added gene: IFT81 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: IFT81 was set to