| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lysosomal Storage Disorder v2.0 | SPNS1 | Gene migrated from ENSG00000169682 to ENSG00000169682 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.27 | SPNS1 | Zornitza Stark Publications for gene: SPNS1 were set to 40608416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.26 | SPNS1 | Zornitza Stark Classified gene: SPNS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.26 | SPNS1 | Zornitza Stark Gene: spns1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.25 | SPNS1 | Zornitza Stark reviewed gene: SPNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38451736; Phenotypes: Lysosomal disorder, SPNS1-related, MONDO:0002561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.22 | SPNS1 | Zornitza Stark Marked gene: SPNS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.22 | SPNS1 | Zornitza Stark Gene: spns1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.22 | SPNS1 | Zornitza Stark Classified gene: SPNS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.22 | SPNS1 | Zornitza Stark Gene: spns1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.21 | SPNS1 |
Sangavi Sivagnanasundram gene: SPNS1 was added gene: SPNS1 was added to Lysosomal Storage Disorder. Sources: Literature Mode of inheritance for gene: SPNS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPNS1 were set to 40608416 Phenotypes for gene: SPNS1 were set to Lysosomal disorder, SPNS1-related, MONDO:0002561 Review for gene: SPNS1 was set to AMBER Added comment: Patient 1 and 2 - Proband and younger brother prolonged, transient neonatal unconjugated hyperbilirubinemia followed by persistently elevated transaminases, serum creatine kinase and myoglobin levels since 6 months and 12 months of age Compound het - Ser416Cys; Ile50Alafs*48 confirmed in trans - both absent from gnomAD v4.1 Patient 3 - 8M from consanguineous parents with elevated transaminase and failure to thrive at 2.5years. Liver transaminase, serum creatinine kinase were elevated. Diagnosed with DD and presented with neonatal cardiac abnormalities Homozygous variant - Thr287Met - NFE PopMax AF 0.0008474% Supportive functional assay conducted on patient fibroblasts showed accumulated lysophospholipids including lysoplasmalogens and cholesterol in lysosomes with reduced cellular plasmalogens. Sources: Literature |
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