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Intellectual disability

Gene: IFT27

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Given the mild ID phenotype, IFT27 is classified Amber on this panel. Patients are more likely to be recognised in view of other features (e.g. Limb disorders panel), for which this gene is Green.
Created: 30 Jul 2020, 9:20 a.m. | Last Modified: 30 Jul 2020, 9:20 a.m.
Panel Version: 3.208
Associated with phenotype in OMIM and a possible gene for Bardet-Biedl syndrome 19 in G2P.

Aldahmesh et al. (2014) (PMID: 24488770) identified a homozygous variant (c.296G>A: p.Cys99Tyr) in a consanguineous Saudi family with two affected siblings. Mild ID was a reported manifestation in one child. Functional studies in zebrafish suggest the variant confers a loss-of-function effect.

Schaefer et al. (2019) (PMID: 30761183) report two compound heterozygous variants (c.104A>G and c.349 + 1G>T) in a child with a classical Bardet-Biedl syndrome presentation. Delayed psychomotor development was noted. A possible splice effect was assessed on the patient’s RNA and only the c.349 + 1G>T variant was shown to result in alternatively spliced isoforms not found in controls.

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 learning delay, albeit no segregation or functional studies were undertaken.
Created: 30 Jul 2020, 8:44 a.m. | Last Modified: 30 Jul 2020, 8:44 a.m.
Panel Version: 3.207

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 19, 615996

Publications

Zornitza Stark (Australian Genomics)

I don't know

Two families with functional evidence.
Sources: Expert list
Created: 7 Feb 2020, 4:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 19, MIM#615996

Publications

Details

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

History Filter Activity

30 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).

7 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: IFT27 was added gene: IFT27 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT27 were set to 24488770; 30761183 Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996 Review for gene: IFT27 was set to AMBER