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Cerebral vascular malformations v3.8 CHD4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: CHD4.
Tag Q3_22_expert_review was removed from gene: CHD4.
Cerebral vascular malformations v2.68 CHD4 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: CHD4.
Cerebral vascular malformations v2.68 CHD4 Eleanor Williams commented on gene: CHD4: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Cerebral vascular malformations v2.63 CHD4 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: CHD4.
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh changed review comment from: 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).; to: 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).
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh edited their review of gene: CHD4: Changed rating: AMBER
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh Deleted their comment
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh edited their review of gene: CHD4: Added comment: Green recommendation based on seven unrelated cases of Sifrim-Hitz-Weiss syndrome (OMIM:617159) with CHD4 variants reported in PMID: 31474762, who all had ischemic stroke due to bilateral moyamoya angiopathy.; Changed rating: GREEN
Cerebral vascular malformations v2.63 CHD4 Eleanor Williams Tag Q3_22_expert_review was removed from gene: CHD4.
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh Added comment: Comment on phenotypes: Moyamoya disease MONDO:0016820 is not specific to CHD4 variants.
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh 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
Cerebral vascular malformations v2.60 CHD4 Eleanor Williams commented on gene: CHD4
Cerebral vascular malformations v2.60 CHD4 Eleanor Williams 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.
Cerebral vascular malformations v2.55 CHD4 Sarah Leigh Classified gene: CHD4 as Amber List (moderate evidence)
Cerebral vascular malformations v2.55 CHD4 Sarah Leigh Gene: chd4 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v2.52 CHD4 Sarah Leigh Publications for gene: CHD4 were set to 31474762; 27616479; 27479907
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh changed review comment from: Q2_21_expert_review added in order to ask whether the evaluation working group would like to seek specialist opinion on this gene / disease association.; to: 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.
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh commented on gene: CHD4: Q2_21_expert_review added in order to ask whether the evaluation working group would like to seek specialist opinion on this gene / disease association.
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh Tag watchlist tag was added to gene: CHD4.
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh edited their review of gene: CHD4: Changed rating: AMBER
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh changed review comment from: 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 is 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).; to: 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).
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh changed review comment from: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moyamoya disease MONDO:0016820, this is a new gene / condition association. Moyamoya is relevant to this panel - Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moyamoya.; to: 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 is 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).
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh Tag Q2_21_expert_review tag was added to gene: CHD4.
Cerebral vascular malformations v2.45 CHD4 Sarah Leigh 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
Cerebral vascular malformations v2.44 CHD4 Sarah Leigh changed review comment from: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moya Moya, this is a new gene / condition association. Moya Moya is relevant to this panel - Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moya Moya.; to: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moyamoya disease MONDO:0016820, this is a new gene / condition association. Moyamoya is relevant to this panel - Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moyamoya.
Cerebral vascular malformations v2.40 CHD4 Sarah Leigh changed review comment from: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moya Moya, this is a new gene condition association. Moya Moya is relevant to this panel -Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moya Moya.; to: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moya Moya, this is a new gene / condition association. Moya Moya is relevant to this panel - Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moya Moya.
Cerebral vascular malformations v2.40 CHD4 Sarah Leigh Classified gene: CHD4 as Red List (low evidence)
Cerebral vascular malformations v2.40 CHD4 Sarah Leigh Added comment: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moya Moya, this is a new gene condition association. Moya Moya is relevant to this panel -Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moya Moya.
Cerebral vascular malformations v2.40 CHD4 Sarah Leigh Gene: chd4 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v2.39 CHD4 Sarah Leigh Publications for gene: CHD4 were set to 31474762; 27616479
Cerebral vascular malformations v2.38 CHD4 Sarah Leigh Publications for gene: CHD4 were set to 31474762
Cerebral vascular malformations v2.37 CHD4 Sarah Leigh 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
Cerebral vascular malformations v2.7 CHD4 Zornitza Stark 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
Added comment: 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