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Intellectual disability

Gene: ZC3H14

Amber List (moderate evidence)

ZC3H14 (zinc finger CCCH-type containing 14)
EnsemblGeneIds (GRCh38): ENSG00000100722
EnsemblGeneIds (GRCh37): ENSG00000100722
OMIM: 613279, Gene2Phenotype
ZC3H14 is in 1 panel

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Two unrelated consanguineous Iranian families with limited clinical details have been reported (PMID:21734151, 2011). Animal models (mouse and Drosophila) support a role for ZC3H14 in neuronal function (see PMID:27868086 for 2016 overview) but further patient cases are required to support ID causation.
Created: 31 Oct 2017, 9:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 56, 617125; intellectual disability

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mental retardation, autosomal recessive 56, 617125
  • intellectual disability
OMIM
613279
Clinvar variants
Variants in ZC3H14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to ZC3H14. Panel: Intellectual disability Model of inheritance for gene ZC3H14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene ZC3H14 was set to ['26350204', ' 21734151']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ZC3H14 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ZC3H14 was created by ellenmcdonagh