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Limb disorders

Gene: IFT27

Amber List (moderate evidence)

IFT27 (intraflagellar transport 27)
EnsemblGeneIds (GRCh38): ENSG00000100360
EnsemblGeneIds (GRCh37): ENSG00000100360
OMIM: 615870, Gene2Phenotype
IFT27 is in 9 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: With the addition of recent publications, there are now at least four unrelated cases reported, and therefore enough evidence for a rating upgrade from Amber to GREEN at the next major review.
Created: 31 Jul 2020, 8:57 a.m. | Last Modified: 31 Jul 2020, 8:57 a.m.
Panel Version: 2.12
Associated with phenotype in OMIM and a possible gene for Bardet-Biedl syndrome 19 in G2P.

Two additional cases reported:

Schaefer et al. (2019) (PMID: 30761183) report two compound heterozygous IFT27 variants (c.104A>G and c.349 + 1G>T) in a child with a classical Bardet-Biedl syndrome presentation, including postaxial polydactyly and syndactyly.

Sanchez-Navarro et al. (2018) (PMID: 29588463) report the same c.104A>G variant, as well as c.350-2A>G (compound heterozygous), in a BBS patient with polydactyly, albeit no segregation or functional studies were undertaken.
Created: 31 Jul 2020, 8:56 a.m. | Last Modified: 31 Jul 2020, 8:56 a.m.
Panel Version: 2.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 19, 615996

Publications

Eleanor Williams (Genomics England Curator)

This gene is amber on the GMS Bardet Biedl syndrome panel https://panelapp.genomicsengland.co.uk/panels/543/ v1.0
Created: 25 Nov 2019, 10:09 p.m. | Last Modified: 25 Nov 2019, 10:10 p.m.
Panel Version: 1.104

Rebecca Foulger (Genomics England curator)

I don't know

Two literature cases of polydactyly in ciliopathy patients (PMID:24488770 from 2014 and PMID:29704304 from 2018). Therefore require further cases before inclusion on a diagnostic panel.
Created: 7 Nov 2018, 1:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polydactyly; ?Bardet-Biedl syndrome 19, 615996

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Bardet-Biedl syndrome 19, 615996
  • Polydactyly
Tags
for-review
OMIM
615870
Clinvar variants
Variants in IFT27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jul 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: IFT27.

31 Jul 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: IFT27 were set to 24488770; 29704304

31 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ift27 has been classified as Amber List (Moderate Evidence).

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Two literature cases of polyda

7 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ift27 has been classified as Amber List (Moderate Evidence).

7 Nov 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to IFT27. Mode of inheritance for gene IFT27 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Bardet-Biedl syndrome 19, 615996; Polydactyly for gene: IFT27 Publications for gene IFT27 were changed from to 24488770; 29704304 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IFT27 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

IFT27 was created by Ellen McDonagh