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Ataxia and cerebellar anomalies - narrow panel v3.30 | SAR1B | Eleanor Williams Tag Q2_21_rating was removed from gene: SAR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.30 | SAR1B | Eleanor Williams commented on gene: SAR1B: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.29 | SAR1B |
Eleanor Williams Source Expert Review Red was added to SAR1B. Source NHS GMS was added to SAR1B. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Ataxia and cerebellar anomalies - narrow panel v2.217 | SAR1B | Eleanor Williams Phenotypes for gene: SAR1B were changed from Chylomicron retention disease to Chylomicron retention disease, OMIM:246700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.216 | SAR1B | Eleanor Williams Publications for gene: SAR1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.215 | SAR1B | Eleanor Williams Classified gene: SAR1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.215 | SAR1B | Eleanor Williams Added comment: Comment on list classification: Leaving rating as green, but with recommendation of a red rating following GMS review. Ataxia rarely reported and as the expert reviewer notes this is secondary to malabsorption. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.215 | SAR1B | Eleanor Williams Gene: sar1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.214 | SAR1B | Eleanor Williams Tag Q2_21_rating tag was added to gene: SAR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.214 | SAR1B | Eleanor Williams reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: None; Publications: 12692552, 3792776, 7601203, 2426307, 10521380, 10665502, 17945526; Phenotypes: Chylomicron retention disease, OMIM:246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.12 | SAR1B | Zornitza Stark reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chylomicron retention disease, 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v0.5 | SAR1B |
Ellen McDonagh gene: SAR1B was added gene: SAR1B was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAR1B were set to Chylomicron retention disease |