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  3. CHD4
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Fetal anomalies

Gene: CHD4

Green List (high evidence)
CHD4 (chromodomain helicase DNA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000111642
EnsemblGeneIds (GRCh37): ENSG00000111642
OMIM: 603277, Gene2Phenotype
CHD4 is in 12 panels

3 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Comment on list classification: Unclear what would differentiate Macro- from micro-cephaly in this gene, or if micro-cephaly is actually a feature of the condition
Created: 2 Sep 2020, 6:34 a.m. | Last Modified: 2 Sep 2020, 6:34 a.m.
Panel Version: 0.307
Created: 2 Sep 2020, 6:34 a.m.
Last Modified: 2 Sep 2020, 6:34 a.m.
Panel version: Imported from Microcephaly panel version 0.307

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Macrocephaly is a frequent feature of this syndrome however in Weiss 2020 (PMID: 31388190), 3 out of 32 probands, had OFC of -2 to -2.5 SD.
Created: 2 Sep 2020, 4:25 a.m. | Last Modified: 2 Sep 2020, 4:25 a.m.
Panel Version: 0.273

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Sifrim-Hitz-Weiss syndrome (MIM#617159)

Publications

Created: 2 Sep 2020, 4:25 a.m.
Last Modified: 2 Sep 2020, 4:25 a.m.
Panel version: Imported from Microcephaly panel version 0.273

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual developmental disorder with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features.

Many P/LP variants reported. Missense variants disrupt ATPase activity and decrease nucleosome remodelling ability. ~50% of missense variants occur between p.1127-1192 containing motifs V, Vb and VI.
Created: 21 Apr 2020, 12:55 a.m. | Last Modified: 15 Nov 2021, 12:56 a.m.
Panel Version: 0.442

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sifrim-Hitz-Weiss syndrome, MIM 617159

Publications

Created: 21 Apr 2020, 12:55 a.m.
Last Modified: 15 Nov 2021, 12:56 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2558

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Sifrim-Hitz-Weiss syndrome MONDO:0014946
  • Sifrim-Hitz-Weiss syndrome OMIM:617159
OMIM
603277
Clinvar variants
Variants in CHD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd4 has been classified as Green List (High Evidence).

15 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHD4 were set to

15 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHD4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHD4 was added gene: CHD4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome MONDO:0014946; Sifrim-Hitz-Weiss syndrome OMIM:617159