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Intellectual disability syndromic and non-syndromic

Gene: ZFHX3

Green List (high evidence)

ZFHX3 (zinc finger homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000140836
EnsemblGeneIds (GRCh37): ENSG00000140836
OMIM: 104155, Gene2Phenotype
ZFHX3 is in 6 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

41 patients with protein truncating variants (PTVs) or (partial) deletions of ZFHX3. Presentations included (mild) ID and/or behavioural problems, postnatal growth retardation, feeding difficulties, dysmorphism (rarely cleft palate). Nuclear abundance of ZFHX3 increases during human brain development and neuronal differentiation in neural stem cells and SH-SY5Y cells, ZFHX3 interacts with the chromatin remodelling BRG1/Brm-associated factor complex and the cleavage and polyadenylation complex. ZFHX3 haploinsufficiency associates with a specific DNA methylation profile in leukocyte-derived DNA, and participates in chromatin remodelling and mRNA processing.
Created: 18 Oct 2023, 3:05 a.m. | Last Modified: 18 Oct 2023, 3:05 a.m.
Panel Version: 0.5591
Can not see any evidence for ID
Created: 12 Feb 2020, 1:07 a.m. | Last Modified: 12 Feb 2020, 1:07 a.m.
Panel Version: 0.2119

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Now published PMID 38412861
Created: 18 Mar 2024, 7:52 a.m. | Last Modified: 18 Mar 2024, 7:52 a.m.
Panel Version: 0.5723
Comment when marking as ready: Emerging evidence.
Created: 17 Dec 2019, 5:06 a.m. | Last Modified: 17 Dec 2019, 5:06 a.m.
Panel Version: 0.1414

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related
OMIM
104155
Clinvar variants
Variants in ZFHX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Mar 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZFHX3 were set to 37292950

21 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZFHX3 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related

21 Oct 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZFHX3 were set to

18 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: zfhx3 has been classified as Green List (High Evidence).

27 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfhx3 has been classified as Amber List (Moderate Evidence).

12 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: zfhx3 has been classified as Red List (Low Evidence).

17 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfhx3 has been classified as Amber List (Moderate Evidence).

17 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfhx3 has been classified as Amber List (Moderate Evidence).

16 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfhx3 has been classified as Green List (High Evidence).

16 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfhx3 has been classified as Green List (High Evidence).

16 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZFHX3 was added gene: ZFHX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZFHX3 were set to Intellectual disability Review for gene: ZFHX3 was set to GREEN