SIL1

SIL1 nucleotide exchange factor
OMIM: 608005, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green SIL1 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Marinesco-Sjogren syndrome 248800

Green SIL1 in Vici Syndrome and other autophagy disorders

Level 3: Autophagy disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Marinesco-sjoegren syndrome (with phenotypical overlap with Vici syndrome)
  • Marinesco-Sjogren syndrome, 248800
Tags
  • deletions

Green SIL1 in Neuromuscular disorders


Version 5.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Marinesco-Sjogren syndrome, 248800

Green SIL1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Marinesco-Sjogren syndrome, 248800

Green SIL1 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Marinesco-Sjogren syndrome, 248800

Green SIL1 in Hereditary ataxia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.205

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Marinesco-Sjogren syndrome, 248800

Green SIL1 in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • Marinesco-Sjogren syndrome, 248800

Red SIL1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list

Red SIL1 in Neurodegenerative disorders - adult onset


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Marinesco-Sjogren syndrome, 248800

Red SIL1 in Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.6

review Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation

Green SIL1 in Fetal anomalies


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Marinesco-Sjogren syndrome, 248800

Green SIL1 in DDG2P


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MARINESCO-SJOEGREN SYNDROME 248800

Red SIL1 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.368

review Not set
Sources
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
Phenotypes
  • Hereditary Neuropathies

Green SIL1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
  • MARINESCO-SJOEGREN SYNDROME (MSS)

Green SIL1 in Hereditary ataxia - adult onset


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Hereditary ataxia v1.148
Phenotypes
  • Marinesco-Sjogren syndrome, 248800

Red SIL1 in Structural eye disease


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Marinesco-Sjogren syndrome, 248800

Red SIL1 in Hereditary neuropathy NOT PMP22 copy number


Version 1.0

review Not set
Sources
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies

Amber SIL1 in Childhood onset dystonia or chorea or related movement disorder


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • Expert Review Amber
Phenotypes
  • Marinesco-Sjogren syndrome, 248800