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  3. IQCE
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Fetal anomalies

Gene: IQCE

Amber List (moderate evidence)
IQCE (IQ motif containing E)
EnsemblGeneIds (GRCh38): ENSG00000106012
EnsemblGeneIds (GRCh37): ENSG00000106012
OMIM: 617631, Gene2Phenotype
IQCE is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Lyn Chitty (Great Ormond Street NHS Foundation Trust)

I don't know

Just post axial polydactyly. Amber in case other features are described
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polydactyly, postaxial, type A7 OMIM:617642

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

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

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: IQCE was added gene: IQCE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQCE were set to 28488682; 31549751 Phenotypes for gene: IQCE were set to Polydactyly, postaxial, type A7 OMIM:617642