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Intellectual disability syndromic and non-syndromic

Gene: IFT140

Red List (low 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)

Red List (low evidence)

Neurological involvement is rare.
Created: 5 Dec 2019, 1:51 a.m. | Last Modified: 5 Dec 2019, 1:51 a.m.
Panel Version: 0.449

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920

History Filter Activity

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift140 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift140 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT140 was added gene: IFT140 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IFT140 was set to Unknown