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| Cerebral vascular malformations v2.63 | CNOT3 | Sarah Leigh changed review comment from: Green rating recommended based on four unrelated cases of Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (OMIM:618672) with CNOT3 variants reported in PMID: 31474762, all of these cases had features of moyamoya disease.; to: After consultation with Helen Brittain (Clinical Fellow, Genomics England), SETD5 has been given an amber rating as the evidence of association was from a single publication. PMID: 31474762 reported CNOT3 variants in four unrelated cases of Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (OMIM:618672), all of these cases had features of moyamoya disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| Cerebral vascular malformations v2.63 | SETD5 | Sarah Leigh changed review comment from: Amber rating based on SETD5 variants reported in PMID: 24680889, 2302093, 25138099 & 31474762. There was insufficient clinical data to classify the cases reported as having features of Moyamoya disease.; to: After consultation with Helen Brittain (Clinical Fellow, Genomics England), SETD5 has been given an amber rating. SETD5 variants were reported in PMID: 24680889, 2302093, 25138099 & 31474762, but there was insufficient clinical data to classify the cases reported as having features of Moyamoya disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v1.67 | GLA | Louise Daugherty Source Yorkshire and North East GLH was added to GLA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v1.65 | GLA | Louise Daugherty Source NHS GMS was added to GLA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations | GLA | Alice Gardham marked GLA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations | GLA | Alice Gardham reviewed GLA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||