Congenital muscular dystrophy

Gene: SIL1

Green List (high evidence)

SIL1 (SIL1 nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000120725
EnsemblGeneIds (GRCh37): ENSG00000120725
OMIM: 608005, Gene2Phenotype
SIL1 is in 19 panels

3 reviews

Ivone Leong (Genomics England Curator)

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

Louise Daugherty (Genomics England Curator)

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.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Marinesco-Sjogren syndrome, 248800

Publications

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

History Filter Activity

9 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: sil1 has been classified as Green List (High Evidence).

7 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sil1 has been classified as Amber List (Moderate Evidence).

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SIL1 were changed from to 11528383

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800

29 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SIL1 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SIL1.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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