Genomics England

SIL1

SIL1 nucleotide exchange factor

Panel	Mode of inheritance	Details
Filter panels9 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 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Marinesco-Sjogren syndrome, 248800
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Marinesco-Sjogren syndrome, 248800
Green in Congenital muscular dystrophy and congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R432 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Marinesco-Sjogren syndrome, OMIM:248800
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MARINESCO-SJOEGREN SYNDROME 248800
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Marinesco-Sjogren syndrome, 248800
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	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 6.13	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 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Marinesco-Sjogren syndrome 248800