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| White matter disorders and cerebral calcification - narrow panel v2.9 | COLGALT1 | Sarah Leigh Tag Q4_21_rating was removed from gene: COLGALT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | COLGALT1 | Sarah Leigh reviewed gene: COLGALT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | COLGALT1 |
Sarah Leigh Source NHS GMS was added to COLGALT1. Source Expert Review Green was added to COLGALT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.216 | COLGALT1 | Ivone Leong Phenotypes for gene: COLGALT1 were changed from Brain small vessel disease 3 MIM#618360 to Brain small vessel disease 3, OMIM:618360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.215 | COLGALT1 | Ivone Leong Classified gene: COLGALT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.215 | COLGALT1 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.215 | COLGALT1 | Ivone Leong Gene: colgalt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.214 | COLGALT1 | Ivone Leong Tag Q4_21_rating tag was added to gene: COLGALT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.198 | COLGALT1 |
Zornitza Stark gene: COLGALT1 was added gene: COLGALT1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature 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 MIM#618360 Review for gene: COLGALT1 was set to GREEN Added comment: 3 unrelated cases with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy, lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. A null mouse model was embryonic lethal, but had defects in the vascular networks of the embryos. Sources: Literature |
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