Renal Ciliopathies and Nephronophthisis
Gene: IFT57
IFT57 (intraflagellar transport 57)
EnsemblGeneIds (GRCh38): ENSG00000114446
EnsemblGeneIds (GRCh37): ENSG00000114446
OMIM: 606621, Gene2Phenotype
IFT57 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000114446
EnsemblGeneIds (GRCh37): ENSG00000114446
OMIM: 606621, Gene2Phenotype
IFT57 is in 3 panels
1 review
Chirag Patel (Genetic Health Queensland)
No renal phenotype reported in this ciliopathy.Created: 3 Jan 2020, 4:11 a.m. | Last Modified: 3 Jan 2020, 4:11 a.m.
Panel Version: 0.43
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- KidGen_CilioNephronop v38.1.0
- Phenotypes
-
- Orofaciodigital syndrome XVIII, MIM#617927
- OMIM
- 606621
- Clinvar variants
- Variants in IFT57
- Penetrance
- None
- Panels with this gene
History Filter Activity
14 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ift57 has been classified as Red List (Low Evidence).
14 Jan 2020, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IFT57 were changed from Orofaciodigital syndrome XVIII, MIM#617927 to Orofaciodigital syndrome XVIII, MIM#617927
14 Jan 2020, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IFT57 were changed from to Orofaciodigital syndrome XVIII, MIM#617927
3 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ift57 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IFT57 was added gene: IFT57 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: IFT57 was set to Unknown