| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe microcephaly v4.33 | SARS | Sarah Leigh Tag Q1_23_promote_green was removed from gene: SARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.33 | SARS | Sarah Leigh reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.32 | SARS |
Sarah Leigh Source Expert Review Green was added to SARS. Source NHS GMS was added to SARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v3.11 | SARS | Arina Puzriakova Phenotypes for gene: SARS were changed from ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 to Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.10 | SARS | Arina Puzriakova Publications for gene: SARS were set to 28236339; 34570399 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.9 | SARS | Arina Puzriakova Classified gene: SARS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.9 | SARS | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least three unrelated cases with biallelic variants in this gene - microcephaly detected in all families. Although severity only reaches threshold for this panel in two families, given the extent in these cases and the consistent presentation this feature, this gene should be included on R88. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.9 | SARS | Arina Puzriakova Gene: sars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.8 | SARS |
Arina Puzriakova Tag watchlist was removed from gene: SARS. Tag Q1_23_promote_green tag was added to gene: SARS. |
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| Severe microcephaly v3.8 | SARS | Arina Puzriakova reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 35790048; Phenotypes: Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.262 | SARS | Ivone Leong Entity copied from Intellectual disability v3.1356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.262 | SARS |
Ivone Leong gene: SARS was added gene: SARS was added to Severe microcephaly. Sources: Expert Review Amber,Literature watchlist, new-gene-name tags were added to gene: SARS. Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS were set to 28236339; 34570399 Phenotypes for gene: SARS were set to ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 |
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