Genomics England
GMS Panels
Panels
Genes and Entities

SIL1

SIL1 nucleotide exchange factor
OMIM: 608005
PanelMode of inheritanceDetails
9 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome, OMIM:248800
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome, 248800
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome, 248800
Green
in Congenital muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R79
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome, OMIM:248800
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MARINESCO-SJOEGREN SYNDROME 248800
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome, 248800
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome, 248800
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome, 248800, MARINESCO-SJOEGREN SYNDROME (MSS)
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 5.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome 248800