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  3. IFT57
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Hand and foot malformations

Gene: IFT57

Red List (low evidence)
IFT57 (intraflagellar transport 57)
EnsemblGeneIds (GRCh38): ENSG00000114446
EnsemblGeneIds (GRCh37): ENSG00000114446
OMIM: 606621, Gene2Phenotype
IFT57 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Created: 3 Jan 2020, 9:58 a.m. | Last Modified: 3 Jan 2020, 9:58 a.m.
Panel Version: 0.596

Phenotypes
Orofaciodigital syndrome XVIII, MIM# 617927

Publications

Created: 3 Jan 2020, 9:58 a.m.
Last Modified: 3 Jan 2020, 9:58 a.m.
Panel version: Imported from Mendeliome panel version 0.596

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Orofaciodigital syndrome XVIII MIM#617927
OMIM
606621
Clinvar variants
Variants in IFT57
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ift57 has been classified as Red List (Low Evidence).

22 Sep 2021, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: IFT57 were set to

22 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IFT57 was added gene: IFT57 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT57 were set to ?Orofaciodigital syndrome XVIII MIM#617927