Congenital muscular dystrophy and congenital myopathy

Gene: SIL1

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.

Created: 7 Aug 2019, 10:21 a.m. | Last Modified: 7 Aug 2019, 10:21 a.m.

Panel Version: 1.56

Green List (high evidence)

Comment on list classification: After review, it was agreed that it was an appropriate phenotype, sufficient cases to support gene-disease association.

Created: 9 Oct 2019, 12:03 p.m. | Last Modified: 9 Oct 2019, 12:03 p.m.

Panel Version: 1.61

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.

Created: 9 Oct 2019, 12:02 p.m. | Last Modified: 9 Oct 2019, 12:02 p.m.

Panel Version: 1.60

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.

Created: 29 Apr 2019, 3:37 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Marinesco-Sjogren syndrome, 248800

Publications

• 11528383

Variants in this GENE are reported as part of current diagnostic practice