Rhabdomyolysis and metabolic muscle disordersGene: SIL1
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
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
SIL1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
SIL1 was created by sleigh