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  3. IFT172
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Rare multisystem ciliopathy disorders

Gene: IFT172

Green List (high evidence)
IFT172 (intraflagellar transport 172)
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 17 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Reasonable number of case reports and good animal models. Offered on GOS ciliopathy panel and recognised on G2P
Created: 19 Jan 2017, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 10 with or without polydactyly 615630

Publications

Created: 19 Jan 2017, 4:29 p.m.

Panel version: 0.410

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Orphanet
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Retinitis pigmentosa 71, 616394
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
  • Jeune syndrome
  • Saldino-Mainzer syndrome
  • Short-rib thoracic dysplasia 10 with or without polydactyly
OMIM
607386
Clinvar variants
Variants in IFT172
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).

19 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for IFT172 were set to 24140113

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).

25 Nov 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

IFT172 was added to Rare multisystem ciliopathy disorderspanel. Source: Other

25 Nov 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

IFT172 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet

25 Nov 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

IFT172 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

IFT172 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 IFT172 were set to Retinitis pigmentosa 71, 616394;Short-rib thoracic dysplasia 10 with or without polydactyly, 615630

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IFT172 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IFT172 was created by ellenmcdonagh