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Intellectual disability

Gene: ZNF674

Red List (low evidence)

ZNF674 (zinc finger protein 674)
EnsemblGeneIds (GRCh38): ENSG00000251192
EnsemblGeneIds (GRCh37): ENSG00000251192
OMIM: 300573, Gene2Phenotype
ZNF674 is in 1 panel

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

ZNF674 was previously implicated in 'Mental retardation, X-linked 92' (MIM: 300851) based on 6 males within a family harbouring a 352G-T, p.E118X variant (PMID:16385466, 2006). However, PMID:23871722 (Piton et al. 2013) don't support the involvement of ZNF674 in ID based on the finding of E118X and other truncating variants in ZNF674 in normal males in the NHLBI Exome Variant Server. PMID:22126752 (2012) also question the role of ZNF674 in ID based on deletion of the ZNF674 gene in individuals without cognitive impairment. The only other literature supporting a link of ZNF674 and ID comes from PMID:20691945 (2010) who present a 13-yr old girl with global DD and ID, and harbouring a duplication of two genes: ZNF673 and ZNF674. Rated Red until further conclusive evidence is available.
Created: 31 Oct 2017, 9:25 a.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mental Retardation, X-linked
  • Mental retardation, X-linked 92, 300851
OMIM
300573
Clinvar variants
Variants in ZNF674
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ZNF674.

12 Mar 2018, Gel status: 1

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: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene ZNF674 was set to ['16385466', ' 22126752', ' 23871722']

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: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF674 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ZNF674 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF674 was added to Intellectual disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF674 was added to Intellectual disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen