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Skeletal dysplasia v1.256 CREB3L1 Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Lyn Chitty.; to: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.255 CREB3L1 Eleanor Williams Classified gene: CREB3L1 as Green List (high evidence)
Skeletal dysplasia v1.255 CREB3L1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Lyn Chitty.
Skeletal dysplasia v1.255 CREB3L1 Eleanor Williams Gene: creb3l1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.200 CREB3L1 Eleanor Williams changed review comment from: Comment on list classification: Decided to wait for GMS approval before upgrading to green.; to: Comment on list classification: Decided to wait for GMS approval before upgrading to green. Demoting back to red.
Skeletal dysplasia v1.199 CREB3L1 Eleanor Williams Classified gene: CREB3L1 as Red List (low evidence)
Skeletal dysplasia v1.199 CREB3L1 Eleanor Williams Added comment: Comment on list classification: Decided to wait for GMS approval before upgrading to green.
Skeletal dysplasia v1.199 CREB3L1 Eleanor Williams Gene: creb3l1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.198 CREB3L1 Eleanor Williams changed review comment from: Comment on list classification: Upgrading from red to green. Is Green on the Osteogenesis imperfecta panel and 4 cases reported.; to: Comment on list classification: Upgrading from red to green. Is Green on the Osteogenesis imperfecta panel and 4 cases reported.
Skeletal dysplasia v1.195 CREB3L1 Eleanor Williams Publications for gene: CREB3L1 were set to 25007323; 29936144.; 28817112
Skeletal dysplasia v1.194 CREB3L1 Eleanor Williams Classified gene: CREB3L1 as Green List (high evidence)
Skeletal dysplasia v1.194 CREB3L1 Eleanor Williams Added comment: Comment on list classification: Upgrading from red to green. Is Green on the Osteogenesis imperfecta panel and 4 cases reported.
Skeletal dysplasia v1.194 CREB3L1 Eleanor Williams Gene: creb3l1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.193 CREB3L1 Eleanor Williams commented on gene: CREB3L1: 4 cases now reported each in a publication (PMID: 24079343 - whole gene deletion, PMID: 28817112 - 3bp in-frame deletion (c.934_936delAAG [p.Lys312del], PMID: 29936144 - premature stop codon c.1284C>A; p.Tyr428*, PMID: 30657919 - homozygous missense variant (p.(Ala304Val))
Skeletal dysplasia v1.153 CREB3L1 Eleanor Williams Added phenotypes Osteogenesis imperfecta, type XVI 616229 for gene: CREB3L1
Publications for gene CREB3L1 were changed from 25007323 to 25007323; 29936144.; 28817112
Skeletal dysplasia v1.147 CREB3L1 Tracy Lester reviewed gene: CREB3L1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25007323, 28817112, 29936144.; Phenotypes: Osteogenesis imperfecta, type XVI 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.146 CREB3L1 Eleanor Williams reviewed gene: CREB3L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 CREB3L1 Eleanor Williams Source NHS GMS was added to CREB3L1.