Cerebral vascular malformations
Gene: CHD4The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.Created: 30 Jan 2023, 4:01 p.m. | Last Modified: 30 Jan 2023, 4:01 p.m.
Panel Version: 2.68
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 6 Oct 2022, 12:56 p.m. | Last Modified: 6 Oct 2022, 12:56 p.m.
Panel Version: 2.60
Comment on phenotypes: Moyamoya disease MONDO:0016820 is not specific to CHD4 variants.Created: 11 Oct 2022, 11:53 a.m. | Last Modified: 11 Oct 2022, 11:53 a.m.
Panel Version: 2.63
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: After consultation with Helen Brittain (Clinical Fellow, Genomics England), CHD4 has been given an amber rating, as the clinical features of the cases reported may not be relevant to this panel. 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: 11 Oct 2022, 1:39 p.m.
Panel Version: 2.63
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: LiteratureCreated: 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
Tag Q3_22_rating was removed from gene: CHD4. Tag Q3_22_expert_review was removed from gene: CHD4.
Tag to_be_confirmed_NHSE tag was added to gene: CHD4.
Tag Q3_22_expert_review tag was added to gene: CHD4.
Tag Q3_22_expert_review was removed from gene: CHD4.
Phenotypes for gene: CHD4 were changed from Moyamoya disease MONDO:0016820; 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
Tag Q2_21_expert_review was removed from gene: CHD4. Tag Q3_22_rating tag was added to gene: CHD4. Tag Q3_22_expert_review tag was added to gene: CHD4.
Gene: chd4 has been classified as Amber List (Moderate Evidence).
Publications for gene: CHD4 were set to 31474762; 27616479; 27479907
Tag watchlist tag was added to gene: CHD4.
Tag Q2_21_expert_review tag was added to gene: CHD4.
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
Gene: chd4 has been classified as Red List (Low Evidence).
Publications for gene: CHD4 were set to 31474762; 27616479
Publications for gene: CHD4 were set to 31474762
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
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