| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteogenesis imperfecta v2.40 | MESD | Eleanor Williams Publications for gene: MESD were set to 31564437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.39 | MESD | Eleanor Williams Tag for-review was removed from gene: MESD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.39 | MESD | Eleanor Williams commented on gene: MESD: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.38 | MESD |
Eleanor Williams Source Expert Review Green was added to MESD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Osteogenesis imperfecta v2.26 | MESD | Eleanor Williams commented on gene: MESD: Further green review from NHS clinician, but already tagged for green rating in next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.23 | MESD | Meena Balasubramanian reviewed gene: MESD: Rating: GREEN; Mode of pathogenicity: None; Publications: 33596325, 31564437; Phenotypes: Ostoegenesis Imperfecta, Fractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.13 | MESD | Arina Puzriakova Phenotypes for gene: MESD were changed from Osteogenesis imperfecta, type XX, 618644 to Osteogenesis imperfecta, type XX, OMIM:618644; Osteogenesis imperfecta, type 20, MONDO:0032846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.7 | MESD | Arina Puzriakova Classified gene: MESD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.7 | MESD | Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.7 | MESD | Arina Puzriakova Gene: mesd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.6 | MESD | Eleanor Williams Tag for-review tag was added to gene: MESD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.6 | MESD |
Eleanor Williams changed review comment from: Gene suggested by Alistair Pagnamenta. Associated with Osteogenesis imperfecta, type XX, #618644 (AR) in OMIM. PMID: 31564437 Moosa et al 2019. Report 5 independent consanguineous families with a progressively deforming type of OI. Using WES and prioritising homozygous variants, they found all patients were homozygous for a mutation in the third and final exon of MESD. Parents were heterozygous. Variants were not common polymorphisms. 4 different truncation or frameshift variants were found. In mice, homozygous loss-of-function Mesd mutations cause embryonic lethality during gastrulation (PubMed: 11247670). In functional studies the MESD mutations produce hypomorphic alleles whose failure to remain within the ER significantly reduces but does not completely eliminate LRP5 and LRP6 trafficking. Sources: Literature; to: Gene suggested by Alistair Pagnamenta. Associated with Osteogenesis imperfecta, type XX, #618644 (AR) in OMIM. PMID: 31564437 Moosa et al 2019. Report 5 independent consanguineous families with a progressively deforming type of OI. Using WES and prioritising homozygous variants, they found all patients were homozygous for a mutation in the third and final exon of MESD. Parents were heterozygous. Variants were not common polymorphisms. 4 different truncation or frameshift variants were found. In mice, homozygous loss-of-function Mesd mutations cause embryonic lethality during gastrulation (PubMed: 11247670). In functional studies the MESD mutations produce hypomorphic alleles whose failure to remain within the ER significantly reduces but does not completely eliminate LRP5 and LRP6 trafficking. Alistair Pagnamenta notes that there is a lack of sibling data. |
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| Osteogenesis imperfecta v2.6 | MESD | Eleanor Williams Classified gene: MESD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.6 | MESD | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. More than three families reported, with plausible disease causing variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.6 | MESD | Eleanor Williams Gene: mesd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.5 | MESD | Eleanor Williams Phenotypes for gene: MESD were changed from to Osteogenesis imperfecta, type XX, 618644 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.4 | MESD |
Eleanor Williams gene: MESD was added gene: MESD was added to Osteogenesis imperfecta. Sources: Literature Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MESD were set to 31564437 Added comment: Gene suggested by Alistair Pagnamenta. Associated with Osteogenesis imperfecta, type XX, #618644 (AR) in OMIM. PMID: 31564437 Moosa et al 2019. Report 5 independent consanguineous families with a progressively deforming type of OI. Using WES and prioritising homozygous variants, they found all patients were homozygous for a mutation in the third and final exon of MESD. Parents were heterozygous. Variants were not common polymorphisms. 4 different truncation or frameshift variants were found. In mice, homozygous loss-of-function Mesd mutations cause embryonic lethality during gastrulation (PubMed: 11247670). In functional studies the MESD mutations produce hypomorphic alleles whose failure to remain within the ER significantly reduces but does not completely eliminate LRP5 and LRP6 trafficking. Sources: Literature |
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