| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Familial cerebral small vessel disease v1.17 | NOTCH3 | Arina Puzriakova Phenotypes for gene: NOTCH3 were changed from Migraine; Encephalopathy; Stroke; Cognitive impairment; Dementia; Seizures; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310 to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.16 | CST3 | Arina Puzriakova Phenotypes for gene: CST3 were changed from Stroke; haemorrhagic stroke; dementia; Cerebral amyloid angiopathy 105150 to Cerebral amyloid angiopathy, OMIM:105150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.15 | APP | Arina Puzriakova Phenotypes for gene: APP were changed from Haemorrhagic stroke; stroke; ischaemic stroke; leukoencephalopathy; seizures; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714 to Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714; Haemorrhagic stroke; Ischaemic stroke; Leukoencephalopathy; Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.14 | COL3A1 | Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance has been changed to Both mono and biallelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.14 | COL3A1 | Eleanor Williams Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.13 | COLGALT1 | Ivone Leong Classified gene: COLGALT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.13 | COLGALT1 | Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green as per my review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.13 | COLGALT1 | Ivone Leong Gene: colgalt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.12 | COLGALT1 | Ivone Leong Tag Q4_21_rating was removed from gene: COLGALT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.12 | COLGALT1 | Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.12 | COLGALT1 | Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.12 | COLGALT1 |
Ivone Leong gene: COLGALT1 was added gene: COLGALT1 was added to Familial cerebral small vessel disease. Sources: Expert Review Amber,Literature Q4_21_rating tags were added to gene: COLGALT1. Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLGALT1 were set to 30412317; 33709034; 31759980 Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3, OMIM:618360 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.11 | CACNA1A | Arina Puzriakova Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 108500; Migraine, familial hemiplegic, 1 141500 AD; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6 183086 to Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.10 | FOXC1 | Eleanor Williams Publications for gene: FOXC1 were set to 22678982; 22903608; 25250569; 16551997; 23686687 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.9 | FOXC1 | Eleanor Williams reviewed gene: FOXC1: Rating: ; Mode of pathogenicity: None; Publications: 32720677; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.7 | Louise Daugherty Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.6 | FOXF2 |
Louise Daugherty gene: FOXF2 was added gene: FOXF2 was added to Familial cerebral small vessel disease. Sources: Literature Mode of inheritance for gene: FOXF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXF2 were set to 27068588 Phenotypes for gene: FOXF2 were set to Small vessel stroke Review for gene: FOXF2 was set to RED Added comment: Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease v1.4 |
Ellen McDonagh List of related panels changed from to Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial cerebral small vessel disease | CST3 | Ellen McDonagh commented on CST3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||