| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v2.176 | POLR1B | Eleanor Williams Tag for-review was removed from gene: POLR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.176 | POLR1B | Eleanor Williams commented on gene: POLR1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.175 | POLR1B |
Eleanor Williams Source Expert Review Green was added to POLR1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v2.80 | POLR1B | Michael Oldridge reviewed gene: POLR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31649276; Phenotypes: TCS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.55 | POLR1B | Eleanor Williams Tag for-review tag was added to gene: POLR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.55 | POLR1B | Eleanor Williams Phenotypes for gene: POLR1B were changed from Treacher-Collins syndrome type 4 to Treacher-Collins syndrome 4 OMIM:618939; treacher collins syndrome 4 MONDO:0030067 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.54 | POLR1B | Eleanor Williams Classified gene: POLR1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.54 | POLR1B | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, with a recommendation for a green rating following GMS review. 5 families reported plus supportive zebrafish model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.54 | POLR1B | Eleanor Williams Gene: polr1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.53 | POLR1B | Eleanor Williams edited their review of gene: POLR1B: Changed rating: GREEN; Changed publications: 31649276; Changed phenotypes: Treacher-Collins syndrome 4 OMIM:618939, treacher collins syndrome 4 MONDO:0030067; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.53 | POLR1B | Eleanor Williams commented on gene: POLR1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.7 | POLR1B |
Zornitza Stark gene: POLR1B was added gene: POLR1B was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR1B were set to 31649276 Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4 Review for gene: POLR1B was set to GREEN gene: POLR1B was marked as current diagnostic Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003 Sources: Literature |
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