Rhabdomyolysis and metabolic muscle disorders

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 10 variants reported.
Created: 5 Dec 2016, 12:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Marinesco-Sjogren syndrome 248800


History Filter Activity

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

SIL1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 0


Sarah Leigh (Genomics England Curator)

SIL1 was created by sleigh