Thoracic dystrophies

Gene: IFT122

Green List (high evidence)

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two green reviews, and 3 families/cases reported. Is green on the Rare multisystem ciliopathy disorders Version 1.26 and Unexplained skeletal dysplasia Version 1.33 gene panels.
Created: 26 May 2017, 12:18 p.m.

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Phenotypes
CED

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
CED

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for IFT122 was changed to BIALLELIC, autosomal or pseudoautosomal

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IFT122 were set to 20493458

25 May 2017, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

25 May 2017, Gel status: 0

Added New Source

Hannah Mitchison (UCL and GOSH)

IFT122 was added to Thoracic dystrophiespanel. Sources: Expert Review

25 May 2017, Gel status: 0

Created

Hannah Mitchison (UCL and GOSH)

IFT122 was created by hmitchis