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| Clefting v2.63 | POLR1B | Eleanor Williams Tag for-review was removed from gene: POLR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v2.63 | POLR1B | Eleanor Williams commented on gene: POLR1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v2.62 | 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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| Clefting v2.20 | POLR1B | Eleanor Williams changed review comment from: Comment on list classification: Promoting from red to amber but with green recommendation. 3 cases reported in which cleft palate was a feature.; to: Comment on list classification: Promoting from red to amber but with green recommendation following phenotype review by the GMS. 3 cases reported in which cleft palate was a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v2.20 | POLR1B | Eleanor Williams Classified gene: POLR1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v2.20 | POLR1B | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber but with green recommendation. 3 cases reported in which cleft palate was a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v2.20 | POLR1B | Eleanor Williams Gene: polr1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v2.19 | POLR1B | Eleanor Williams Tag for-review tag was added to gene: POLR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v2.19 | POLR1B |
Eleanor Williams changed review comment from: Associated with Treacher-Collins syndrome 4 #618939 (AD) in OMIM PMID: 31649276 - Sanchez et al 2020 - using exome sequencing they identified 6 patients (5 unrelated families) with heterozygous missense variants in POLR1B. In 3 cases the variants were de novo. One was inherited from the mother, and one from the father who was mosaic for the variant. 3 different variants are reported. The clinical phenotype was variable but all patients were reported with downward slanting palpebral fissures, Malar hypoplasia, and Conductive deafness, and 3 individuals from 3 different families had dleft palate. Morphilino knockdown of polr1b showed abnormal craniofacial development of zebrafish embryos Sources: Literature; to: Associated with Treacher-Collins syndrome 4 #618939 (AD) in OMIM PMID: 31649276 - Sanchez et al 2020 - using exome sequencing they identified 6 patients (5 unrelated families) with heterozygous missense variants in POLR1B. In 3 cases the variants were de novo. One was inherited from the mother, and one from the father who was mosaic for the variant. 3 different variants are reported. The clinical phenotype was variable but all patients were reported with downward slanting palpebral fissures, Malar hypoplasia, and Conductive deafness, and 3 individuals from 3 different families had cleft palate. Morphilino knockdown of polr1b showed abnormal craniofacial development of zebrafish embryos Sources: Literature |
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| Clefting v2.19 | POLR1B |
Eleanor Williams gene: POLR1B was added gene: POLR1B was added to Clefting. Sources: Literature Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1B were set to 31649276 Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome 4 OMIM:618939; treacher collins syndrome 4 MONDO:0030067 Review for gene: POLR1B was set to GREEN Added comment: Associated with Treacher-Collins syndrome 4 #618939 (AD) in OMIM PMID: 31649276 - Sanchez et al 2020 - using exome sequencing they identified 6 patients (5 unrelated families) with heterozygous missense variants in POLR1B. In 3 cases the variants were de novo. One was inherited from the mother, and one from the father who was mosaic for the variant. 3 different variants are reported. The clinical phenotype was variable but all patients were reported with downward slanting palpebral fissures, Malar hypoplasia, and Conductive deafness, and 3 individuals from 3 different families had dleft palate. Morphilino knockdown of polr1b showed abnormal craniofacial development of zebrafish embryos Sources: Literature |
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