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| White matter disorders and cerebral calcification - narrow panel v2.9 | BLOC1S1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BLOC1S1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | BLOC1S1 | Sarah Leigh Tag Q3_22_rating was removed from gene: BLOC1S1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | BLOC1S1 | Sarah Leigh reviewed gene: BLOC1S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | BLOC1S1 |
Sarah Leigh Source NHS GMS was added to BLOC1S1. Source Expert Review Green was added to BLOC1S1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.244 | BLOC1S1 | Arina Puzriakova Classified gene: BLOC1S1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.244 | BLOC1S1 | Arina Puzriakova Added comment: Comment on list classification: After seeking consultation from the Helen Brittain (Genomics England Clinical Team) due to the limited details provided in the paper as well as lack of additional support albeit with a sufficient number of total cases with a consistent phenotype (PMID:33875846), it was decided that a Green rating on this panel is justified given the number of unrelated families presenting a relevant phenotype meets the criteria. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.244 | BLOC1S1 | Arina Puzriakova Gene: bloc1s1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.243 | BLOC1S1 |
Arina Puzriakova Tag watchlist was removed from gene: BLOC1S1. Tag Q3_22_rating tag was added to gene: BLOC1S1. |
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| White matter disorders and cerebral calcification - narrow panel v1.243 | BLOC1S1 | Arina Puzriakova Entity copied from Intellectual disability v3.1700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.243 | BLOC1S1 |
Arina Puzriakova gene: BLOC1S1 was added gene: BLOC1S1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature watchlist tags were added to gene: BLOC1S1. Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S1 were set to 33875846 Phenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy Penetrance for gene: BLOC1S1 were set to unknown |
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