| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Skeletal dysplasia v2.184 | UFSP2 | Eleanor Williams Tag Q2_21_rating was removed from gene: UFSP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.184 | UFSP2 | Eleanor Williams commented on gene: UFSP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.183 | UFSP2 |
Eleanor Williams Source Expert Review Green was added to UFSP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.97 | UFSP2 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases with skeletal dysplasia (OMIM:142669 & OMIM:617974). Supportive functional studies presented for one of the variants (PMID 26428751).; to: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases with skeletal dysplasia (OMIM:142669 & OMIM:617974), within the UFSP2 C-terminal C78 peptidase domain, which is required for its catalytic activity. Supportive functional studies presented for one of the variants (PMID 26428751) . | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.97 | UFSP2 | Sarah Leigh Publications for gene: UFSP2 were set to 28892125; 26428751; 32755715 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.96 | UFSP2 | Sarah Leigh Added comment: Comment on phenotypes: A biallelic variant rs142500730 has been associated with pediatric neurodevelopmental anomalies and epilepsy (PMID 33473208). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.96 | UFSP2 | Sarah Leigh Phenotypes for gene: UFSP2 were changed from ?Beukes Hip Dysplasia OMIM:142669; hip dysplasia, Beukes type MONDO:0007726; ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974; spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702 to ?Beukes Hip Dysplasia OMIM:142669; hip dysplasia, Beukes type MONDO:0007726; ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974; spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.95 | UFSP2 | Sarah Leigh Classified gene: UFSP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.95 | UFSP2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.95 | UFSP2 | Sarah Leigh Gene: ufsp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.94 | UFSP2 | Sarah Leigh Tag Q2_21_rating tag was added to gene: UFSP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.94 | UFSP2 | Sarah Leigh reviewed gene: UFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.94 | UFSP2 | Sarah Leigh Mode of inheritance for gene: UFSP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.93 | UFSP2 | Sarah Leigh Phenotypes for gene: UFSP2 were changed from Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 to ?Beukes Hip Dysplasia OMIM:142669; hip dysplasia, Beukes type MONDO:0007726; ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974; spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.92 | UFSP2 | Sarah Leigh Publications for gene: UFSP2 were set to 28892125; 26428751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | UFSP2 |
Eleanor Williams Added phenotypes Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 for gene: UFSP2 Publications for gene UFSP2 were changed from to 28892125; 26428751 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | UFSP2 | Tracy Lester reviewed gene: UFSP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28892125, 26428751; Phenotypes: Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | UFSP2 | Eleanor Williams reviewed gene: UFSP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | UFSP2 |
Eleanor Williams gene: UFSP2 was added gene: UFSP2 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: UFSP2 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||