Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: IFT27

Green List (high evidence)

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

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Agree should be included alongside the other BBS genes in this panel.
Created: 11 Oct 2020, 11:15 p.m. | Last Modified: 11 Oct 2020, 11:15 p.m.
Panel Version: 2.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 19, MIM#615996

Publications

Variants in this GENE are reported as part of current diagnostic practice

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: 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, 8:38 a.m. | Last Modified: 31 Jul 2020, 8:38 a.m.
Panel Version: 2.15
Associated with phenotype in OMIM and a possible gene for Bardet-Biedl syndrome 19 in G2P.

Retinitis pigmentosa is a feature of BBS-19, and is noted in all cases in literature reported to date (expect one where this could not be assessed due to termination of pregnancy).

Aldahmesh et al. (2014) (PMID: 24488770) identified a homozygous c.296G-A transition in the IFT27 gene (p.C99Y) in a consanguineous family with two affected children with Bardet-Biedl syndrome-19.

Quelin et al. (2018) (PMID: 29704304) describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c.118_125del, p.(Thr40Glyfs*11) and a c.352 +1G>T in IFT27.

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, albeit no segregation or functional studies were undertaken.

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 BBS presentation.
Created: 31 Jul 2020, 8:35 a.m. | Last Modified: 31 Jul 2020, 8:35 a.m.
Panel Version: 2.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 19, 615996

Publications

Ivone Leong (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • RetNet
Phenotypes
  • ?Bardet-Biedl syndrome 19, OMIM:615996
OMIM
615870
Clinvar variants
Variants in IFT27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: IFT27.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to IFT27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Jan 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: IFT27 were changed from to ?Bardet-Biedl syndrome 19, OMIM:615996

7 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IFT27 were set to

31 Jul 2020, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: IFT27 was changed from to BIALLELIC, autosomal or pseudoautosomal

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).

31 Jul 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

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

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: IFT27 was added gene: IFT27 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: IFT27 was set to