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| Ataxia and cerebellar anomalies - narrow panel v3.30 | BBS1 | Eleanor Williams Tag Q2_21_rating was removed from gene: BBS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | BBS1 | Eleanor Williams reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | BBS1 |
Eleanor Williams Source Expert Review Green was added to BBS1. Source NHS GMS was added to BBS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.72 | BBS1 | Sarah Leigh Tag Q2_21_rating tag was added to gene: BBS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.72 | BBS1 | Sarah Leigh Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, MIM#209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.71 | BBS1 | Sarah Leigh edited their review of gene: BBS1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in numerous unrelated cases.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.71 | BBS1 | Sarah Leigh Classified gene: BBS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.71 | BBS1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.71 | BBS1 | Sarah Leigh Gene: bbs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | BBS1 |
Zornitza Stark gene: BBS1 was added gene: BBS1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS1 were set to 15637713 Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, MIM#209900 Review for gene: BBS1 was set to GREEN gene: BBS1 was marked as current diagnostic Added comment: Ataxia is a common feature of the phenotype. Sources: Expert list |
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