| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2123 | LSS | Zornitza Stark Marked gene: LSS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2123 | LSS | Zornitza Stark Gene: lss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2123 | LSS | Zornitza Stark Classified gene: LSS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2123 | LSS | Zornitza Stark Gene: lss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2112 | LSS |
Rylee Peters changed review comment from: PMID: 30723320 - Cohort of 11 individuals from 7 unrelated families; all affected with alopecia, scaly skin, other ectodermal abnormalities, variable MRI abnormalities and neurological symptoms. All affected individuals (except 1x individual with a single missense variant and an allelic imbalance) were hom/compound het, whilst heterozygous carriers, for all the families, were asymptomatic. Epilepsy was reported in 7/11 individuals (Table 1). PMID: 37157980 - Four-year-old male with global developmental delay, epilepsy and striking alopecia; identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variants. Presented with myoclonic epilepsy at 14 months. Note: PanelApp UK has this gene rating as amber based on advice from Genomics England Clinical Team and West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. Sources: Literature; to: PMID: 30723320 - Cohort of 11 individuals from 7 unrelated families; all affected with alopecia, scaly skin, other ectodermal abnormalities, variable MRI abnormalities and neurological symptoms. All affected individuals (except 1x individual with a single missense variant and an allelic imbalance) were hom/compound het, whilst heterozygous carriers, for all the families, were asymptomatic. Epilepsy was reported in 7/11 individuals (Table 1). PMID: 37157980 - Four-year-old male with global developmental delay, epilepsy and striking alopecia; identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variants. Presented with myoclonic epilepsy at 14 months. Note: PanelApp UK has this gene rating as amber based on advice from Genomics England Clinical Team and West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. Sources: Literature |
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| Genetic Epilepsy v0.2112 | LSS |
Rylee Peters gene: LSS was added gene: LSS was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSS were set to PMID: 30723320; 37157980 Phenotypes for gene: LSS were set to Alopecia-intellectual disability syndrome 4, MIM#618840 Review for gene: LSS was set to GREEN Added comment: PMID: 30723320 - Cohort of 11 individuals from 7 unrelated families; all affected with alopecia, scaly skin, other ectodermal abnormalities, variable MRI abnormalities and neurological symptoms. All affected individuals (except 1x individual with a single missense variant and an allelic imbalance) were hom/compound het, whilst heterozygous carriers, for all the families, were asymptomatic. Epilepsy was reported in 7/11 individuals (Table 1). PMID: 37157980 - Four-year-old male with global developmental delay, epilepsy and striking alopecia; identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variants. Presented with myoclonic epilepsy at 14 months. Note: PanelApp UK has this gene rating as amber based on advice from Genomics England Clinical Team and West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. Sources: Literature |
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