1. Panels
  2. Microcephaly
  3. CHD4
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Microcephaly

Gene: CHD4

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

2 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: 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: 0.273

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Sifrim-Hitz-Weiss syndrome (MIM#617159)
OMIM
603277
Clinvar variants
Variants in CHD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: chd4 has been classified as Amber List (Moderate Evidence).

2 Sep 2020, Gel status: 2

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome (MIM#617159)

2 Sep 2020, Gel status: 2

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: CHD4 were set to

2 Sep 2020, Gel status: 2

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

2 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: chd4 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHD4 was added gene: CHD4 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHD4 was set to Unknown