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Limb disorders

Gene: IQCE

Red List (low evidence)

IQCE (IQ motif containing E)
EnsemblGeneIds (GRCh38): ENSG00000106012
EnsemblGeneIds (GRCh37): ENSG00000106012
OMIM: 617631, Gene2Phenotype
IQCE is in 1 panel

4 reviews

Zornitza Stark (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. Suggest adding to ciliopathy panel(s).
Created: 1 May 2020, 10:16 a.m. | Last Modified: 1 May 2020, 10:16 a.m.
Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Postaxial polydactyly

Publications

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

Eleanor Williams (Genomics England Curator)

Genomics England clinical team notes - Agree with red rating. Single paper found splice site variant segregating with postaxial polydactyly in a single family
Created: 9 Sep 2018, 6:19 p.m.

Rachel Jones (GSTT)

Red List (low evidence)

PMID: 20610440 Single publication of homozygous splice-site mutation in large consanguineous family identified by whole exome analysis. Segregating with condition in that family.

Knockout mouse has limb phenotype (information from publication above) including polydactyly, digital anomalies and short/long lower limb

No further publications found
Created: 24 Apr 2018, 11:32 a.m.

Phenotypes
617642 POLYDACTYLY, POSTAXIAL, TYPE A7; PAPA7

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: No other evidence found.
Created: 9 Apr 2018, 2:16 p.m.
Comment on publications: PMID: 28488682 one family report.
Created: 9 Apr 2018, 1:09 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Polydactyly, postaxial, type A7 617642
OMIM
617631
Clinvar variants
Variants in IQCE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on publications: PMID:

9 Apr 2018, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Apr 2018, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IQCE were set to 28488682

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IQCE was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

IQCE was created by Ellen McDonagh