| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v2.195 | LIFR | Eleanor Williams Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.171 | LIFR | Eleanor Williams changed review comment from: Comment on mode of inheritance: Mode of inheritance of BIALLELIC is correct for the Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome phenotype and this panel. Heterozygous variants and a CAKUT phenotype.; to: Comment on mode of inheritance: Mode of inheritance of BIALLELIC is correct for the Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome phenotype and this panel. Heterozygous variants are associated with a CAKUT phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.171 | LIFR | Eleanor Williams Added comment: Comment on mode of inheritance: Mode of inheritance of BIALLELIC is correct for the Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome phenotype and this panel. Heterozygous variants and a CAKUT phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.171 | LIFR | Eleanor Williams Mode of inheritance for gene: LIFR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | LIFR | Eleanor Williams Added phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 for gene: LIFR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | LIFR | Tracy Lester reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | LIFR | Eleanor Williams reviewed gene: LIFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | LIFR |
Eleanor Williams Source NHS GMS was added to LIFR. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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