Cerebral vascular malformations
Gene: CHD4
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
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
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