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Prepair 1000+

Gene: SIL1

Green List (high evidence)

SIL1 (SIL1 nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000120725
EnsemblGeneIds (GRCh37): ENSG00000120725
OMIM: 608005, Gene2Phenotype
SIL1 is in 12 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.
MSS is a multisystem disorder that is characterised by cerebellar dysfunction and ataxia, early-onset bilateral cataracts, developmental delays, intellectual disability, skeletal deformities, short stature and progressive myopathy.
Infantile-onset.
Variant spectrum: nonsense, frameshift, splice site inframe deletions, and missense
Founder variant present in Finnish population: p.Asp170GlufsTer4
Animal models present.
Created: 7 Feb 2025, 12:13 p.m. | Last Modified: 7 Feb 2025, 12:13 p.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Marinesco-Sjogren syndrome MIM#248800

Publications

History Filter Activity

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SIL1 was added gene: SIL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800 (3)