Ductal plate malformation

Gene: IFT122

No list

IFT122 (intraflagellar transport 122)
EnsemblGeneIds (GRCh38): ENSG00000163913
EnsemblGeneIds (GRCh37): ENSG00000163913
OMIM: 606045, Gene2Phenotype
IFT122 is in 16 panels

0 reviews

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: IFT122.

30 Nov 2018, Gel status: 0

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: New gene name is CPLANE

12 Nov 2018, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to IFT122. Rating Changed from Amber List (moderate evidence) to No List (delete)

6 Nov 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: IFT122 was added gene: IFT122 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 (218330)