Muscular dystrophy and myopathy_Paediatric
Gene: SIL1
Well established gene-disease association.
Infantile-onset, multi-system disorder that affects the brain, eyes and skeletal muscles.Created: 2 May 2022, 4:51 a.m. | Last Modified: 2 May 2022, 4:51 a.m.
Panel Version: 0.13592
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome, MIM#248800; MONDO#0009567
Publications
Well reported in patients with the associated phenotype. Onset in infancy. Muscle weakness and elevated CK are consistent features of this phenotype. Myopathic changes observed in muscle biopsy.
Sources: Expert ReviewCreated: 24 Jun 2020, 12:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome (MIM#248800)
Publications
Gene: sil1 has been classified as Green List (High Evidence).
Gene: sil1 has been classified as Green List (High Evidence).
gene: SIL1 was added gene: SIL1 was added to Muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIL1 were set to 16282977; 24176978 Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome (MIM#248800)