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  3. IQCE
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Ciliopathies

Gene: IQCE

Green List (high evidence)
IQCE (IQ motif containing E)
EnsemblGeneIds (GRCh38): ENSG00000106012
EnsemblGeneIds (GRCh37): ENSG00000106012
OMIM: 617631, Gene2Phenotype
IQCE is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four families reported with bi-allelic variants in this gene. The c.895_904del (p.Val301Serfs*8) was found in three of the families without sharing a common haplotype, suggesting a recurrent mechanism. RNA expression analysis on patients’ fibroblasts showed that the dysfunction of IQCE leads to the dysregulation of genes associated with the hedgehog‐signaling pathway, and zebrafish experiments demonstrated a full spectrum of phenotypes linked to defective cilia: Body curvature, kidney cysts, left–right asymmetry, misdirected cilia in the pronephric duct, and retinal defects.
Sources: Literature
Created: 21 Apr 2020, 11:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Postaxial polydactyly

Publications

Created: 21 Apr 2020, 11:27 p.m.

Panel version: Imported from Ciliopathies_RMH panel version 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Postaxial polydactyly
OMIM
617631
Clinvar variants
Variants in IQCE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: iqce has been classified as Green List (High Evidence).

14 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: iqce has been classified as Green List (High Evidence).

14 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IQCE was added gene: IQCE was added to Ciliopathies. Sources: Literature Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQCE were set to 31549751; 28488682 Phenotypes for gene: IQCE were set to Postaxial polydactyly