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Intellectual disability syndromic and non-syndromic

Gene: ZFHX4

Green List (high evidence)

ZFHX4 (zinc finger homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000091656
EnsemblGeneIds (GRCh37): ENSG00000091656
OMIM: 606940, Gene2Phenotype
ZFHX4 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Sources: Literature
Created: 4 Nov 2020, 9:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorders; intellectual disability, dysmorphic features

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder, ZFHX4-related (MONDO:0700092)
Tags
SV/CNV
OMIM
606940
Clinvar variants
Variants in ZFHX4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 2023, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: ZFHX4 were changed from Developmental disorders; intellectual disability, dysmorphic features to neurodevelopmental disorder, ZFHX4-related (MONDO:0700092)

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfhx4 has been classified as Green List (High Evidence).

4 Nov 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: ZFHX4.

4 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfhx4 has been classified as Green List (High Evidence).

4 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZFHX4 was added gene: ZFHX4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFHX4 were set to 33057194; 24038936; 21802062 Phenotypes for gene: ZFHX4 were set to Developmental disorders; intellectual disability, dysmorphic features Review for gene: ZFHX4 was set to GREEN