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Intellectual disability

Gene: ZFHX4

Amber List (moderate evidence)

ZFHX4 (zinc finger homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000091656
EnsemblGeneIds (GRCh37): ENSG00000091656
OMIM: 606940, Gene2Phenotype
ZFHX4 is in 1 panel

5 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM. Based on the available evidence there is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Created: 4 Dec 2020, 3:32 p.m. | Last Modified: 4 Dec 2020, 3:32 p.m.
Panel Version: 3.601

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (5 frameshift, 5 missense, 4 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
PMID: 24038936 - a single case with developmental delay, macrocephaly, ventriculomegaly, hypermetropia, recurrent infections, dysmorphism and a de novo deletion of the last 7 exons of the gene.
PMID:21802062 (2011) report 8 individuals with ID and overlapping deletions of 8q21.11 (0.66-13.55 Mb in size); the smallest region of overlap encompasses 3 genes including ZFHX4.

Overall, I think sufficient evidence for Green rating.
Created: 4 Nov 2020, 9:46 a.m. | Last Modified: 4 Nov 2020, 9:46 a.m.
Panel Version: 3.510

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorders; intellectual disability, dysmorphic features

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Insufficient ID evidence for inclusion on diagnostic panel. PMID:21802062 (2011) report 8 individuals with ID and overlapping deletions of 8q21.11 (0.66-13.55 Mb in size); the smallest region of overlap encompasses 3 genes including ZFHX4.
Created: 31 Oct 2017, 9:24 a.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Developmental disorders
  • intellectual disability, dysmorphic features
Tags
for-review
OMIM
606940
Clinvar variants
Variants in ZFHX4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Dec 2020, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ZFHX4 were set to 26350204; 21802062

4 Dec 2020, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ZFHX4 were changed from to Developmental disorders; intellectual disability, dysmorphic features

4 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: zfhx4 has been classified as Amber List (Moderate Evidence).

4 Dec 2020, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: ZFHX4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

4 Dec 2020, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: ZFHX4.

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 ZFHX4 was set to ['26350204', ' 21802062']

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

Created

Ellen McDonagh (Genomics England Curator)

ZFHX4 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ZFHX4 was added to Intellectual disabilitypanel. Sources: Expert Review Red