SIL1

SIL1 nucleotide exchange factor
OMIM: 608005, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green SIL1 in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 5.14 Latest signed off version: v5.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Emory Genetics Laboratory 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 1.3	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 Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Marinesco-Sjogren syndrome, 248800
Green SIL1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	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 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Marinesco-Sjogren syndrome, 248800
Green SIL1 in Congenital muscular dystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Marinesco-Sjogren syndrome, OMIM:248800
Red SIL1 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list
Red SIL1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 1.14	review	Not set	Sources Literature Phenotypes anorectal malformation
Green SIL1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Marinesco-Sjogren syndrome, 248800
Green SIL1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	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 1.506	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Hereditary Neuropathies
Green SIL1 in Intellectual disability Level 2: Developmental disorders Version 9.280 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Marinesco-Sjogren syndrome, 248800
Red SIL1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	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, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Amber Phenotypes Marinesco-Sjogren syndrome, 248800
Green SIL1 in Acute rhabdomyolysis Level 2: Neurology Version 2.7 Latest signed off version: v2.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Marinesco-Sjogren syndrome, OMIM:248800