| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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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