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  3. IFT52
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Fetal anomalies

Gene: IFT52

Green List (high evidence)
IFT52 (intraflagellar transport 52)
EnsemblGeneIds (GRCh38): ENSG00000101052
EnsemblGeneIds (GRCh37): ENSG00000101052
OMIM: 617094, Gene2Phenotype
IFT52 is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 29 Jan 2021, 11:21 a.m. | Last Modified: 29 Jan 2021, 11:21 a.m.
Panel Version: 1.227
Created: 29 Jan 2021, 11:21 a.m.
Last Modified: 29 Jan 2021, 11:21 a.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Created: 28 Jan 2021, 6:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 16 with or without polydactyly

Created: 28 Jan 2021, 6:12 p.m.

Panel version: 1.214

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
  • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
OMIM
617094
Clinvar variants
Variants in IFT52
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: IFT52.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to IFT52. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: IFT52 were set to

29 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IFT52 were changed from Short-rib thoracic dysplasia 16 with or without polydactyly to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915

29 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ift52 has been classified as Amber List (Moderate Evidence).

29 Jan 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: IFT52.

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: IFT52 was added gene: IFT52 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly Review for gene: IFT52 was set to GREEN