Cerebral vascular malformations

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 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Q2_21_expert_review tag added in order to ask whether the evaluation working group would like to seek specialist opinion on this gene / disease association.
Created: 24 Jun 2021, 3:23 p.m. | Last Modified: 24 Jun 2021, 3:24 p.m.
Panel Version: 2.51
Comment on list classification: Moyamoya disease MONDO:0016820 is relevant to this panel - Cerebral vascular malformations.
PMID 31474762 reports a single de novo missense variant in a case of Moyamoya angiopathy, six further CHD4 variants were also identified in this study, however, the pattern of inheritance was uncertain. PMID 27616479 found a CHD4 missense variant in a case who also had Moyama angiopathy and two further de novo missense variants were reported in probands with congenital heart disease who had neurodevelopmental deficit (PMID 28991257).
Created: 28 Apr 2021, 2:49 p.m. | Last Modified: 24 Jun 2021, 2:58 p.m.
Panel Version: 2.51

Zornitza Stark (Australian Genomics)

Red List (low evidence)

5 individuals reported with Moya Moya and ID, but only in one was de novo inheritance confirmed. 4 missense variants and one canonical splice.
Sources: Literature
Created: 9 Dec 2020, 7:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Moya Moya; Sifrim-Hitz-Weiss syndrome, MIM# 617159

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Moyamoya disease MONDO:0016820
  • Sifrim-Hitz-Weiss syndrome OMIM:617159
  • Sifrim-Hitz-Weiss syndrome MONDO:0014946
Tags
watchlist Q2_21_expert_review
OMIM
603277
Clinvar variants
Variants in CHD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

24 Jun 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CHD4 were set to 31474762; 27616479; 27479907

24 Jun 2021, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: CHD4.

24 Jun 2021, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: CHD4.

28 Apr 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome OMIM:617159; Sifrim-Hitz-Weiss syndrome MONDO:0014946 to Moyamoya disease MONDO:0016820; Sifrim-Hitz-Weiss syndrome OMIM:617159; Sifrim-Hitz-Weiss syndrome MONDO:0014946

28 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: chd4 has been classified as Red List (Low Evidence).

28 Apr 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CHD4 were set to 31474762; 27616479

28 Apr 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CHD4 were set to 31474762

28 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CHD4 were changed from Moya Moya; Sifrim-Hitz-Weiss syndrome, MIM# 617159 to Sifrim-Hitz-Weiss syndrome OMIM:617159; Sifrim-Hitz-Weiss syndrome MONDO:0014946

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CHD4 was added gene: CHD4 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD4 were set to 31474762 Phenotypes for gene: CHD4 were set to Moya Moya; Sifrim-Hitz-Weiss syndrome, MIM# 617159 Review for gene: CHD4 was set to RED