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  3. IFT122
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Rare multisystem ciliopathy disorders

Gene: IFT122

Green List (high evidence)
IFT122 (intraflagellar transport 122)
EnsemblGeneIds (GRCh38): ENSG00000163913
EnsemblGeneIds (GRCh37): ENSG00000163913
OMIM: 606045, Gene2Phenotype
IFT122 is in 14 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Multiple cases reported, for different variants.
Created: 13 Dec 2016, 4:10 p.m.
Comment on list classification: Multiple cases reported, for different variants.
Created: 13 Dec 2016, 4:10 p.m.
Created: 13 Dec 2016, 4:10 p.m.

Panel version: 0.384

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Cranioectodermal dysplasia 1, 218330
  • Cranioectodermal dysplasia
OMIM
606045
Clinvar variants
Variants in IFT122
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

19 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

13 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 Dec 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IFT122 were set to 26792575;20493458;24689072;24027799;23826986;19000668

25 Nov 2016, Gel status: 3

Upload gene information

Ellen McDonagh (Genomics England Curator)

IFT122 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

25 Nov 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

IFT122 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet

25 Nov 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

IFT122 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

IFT122 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene IFT122 were set to Cranioectodermal dysplasia 1, 218330

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IFT122 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IFT122 was created by ellenmcdonagh