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  3. IFT140
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: IFT140

Green List (high evidence)
IFT140 (intraflagellar transport 140)
EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported with RP phenotype.
Created: 3 Jul 2021, 8:43 a.m. | Last Modified: 3 Jul 2021, 8:43 a.m.
Panel Version: 0.93

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 80, MIM# 617781

Publications

Created: 3 Jul 2021, 8:43 a.m.
Last Modified: 3 Jul 2021, 8:43 a.m.
Panel version: 0.93

History Filter Activity

3 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift140 has been classified as Green List (High Evidence).

3 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT140 were changed from Retinitis pigmentosa 80 to Retinitis pigmentosa 80, MIM# 617781

3 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT140 were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IFT140 was added gene: IFT140 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT140 were set to Retinitis pigmentosa 80