| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital muscular dystrophy v3.83 | SIL1 | Arina Puzriakova Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome, 248800 to Marinesco-Sjogren syndrome, OMIM:248800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.61 | SIL1 | Louise Daugherty Classified gene: SIL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.61 | SIL1 | Louise Daugherty Added comment: Comment on list classification: After review, it was agreed that it was an appropriate phenotype, sufficient cases to support gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.61 | SIL1 | Louise Daugherty Gene: sil1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.60 | SIL1 | Louise Daugherty edited their review of gene: SIL1: Added comment: Reviewed by Genomics England clinical team who noted it is associated with a raised CK, muscle weakness and abnormalities on biopsy so a relevant phenotype. The GLH representative has rated it green so would support green rating. The panel has not yet been discussed with the Test Group, but all genes will be reviewed before sign off.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.56 | SIL1 | Ivone Leong Classified gene: SIL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.56 | SIL1 | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. SIL1 is associated with Marinesco-Sjogren syndrome in OMIM and Gene2Phenotype. There are >3 unrelated cases reported in OMIM so in terms of evidence, there is enough evidence to support a gene-disease association. Muscular dystrophy is one of the characteristics of Marinesco-Sjogren syndrome; however, clinical input as to whether SIL1 belongs in this panel is needed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.56 | SIL1 | Ivone Leong Gene: sil1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.44 | SIL1 | Louise Daugherty Publications for gene SIL1 were changed from to 11528383 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.43 | SIL1 | Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.42 | SIL1 | Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.41 | SIL1 | Louise Daugherty Mode of inheritance for gene: SIL1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.24 | SIL1 | Rachael Mein reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11528383; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.23 | SIL1 | Louise Daugherty Source NHS GMS was added to SIL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.22 | SIL1 |
Louise Daugherty gene: SIL1 was added gene: SIL1 was added to Congenital muscular dystrophy. Sources: London South GLH Mode of inheritance for gene: SIL1 was set to |
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