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| Mendeliome v1.4581 | CD99L2 | Chirag Patel Phenotypes for gene: CD99L2 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092; CD99L2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4580 | CD99L2 | Chirag Patel Marked gene: CD99L2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4580 | CD99L2 | Chirag Patel Gene: cd99l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4580 | CD99L2 | Chirag Patel Classified gene: CD99L2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4580 | CD99L2 | Chirag Patel Gene: cd99l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4579 | CD99L2 | Chirag Patel Classified gene: CD99L2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4579 | CD99L2 | Chirag Patel Gene: cd99l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4576 | CD99L2 |
Chirag Patel gene: CD99L2 was added gene: CD99L2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CD99L2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CD99L2 were set to 41690933 Phenotypes for gene: CD99L2 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: CD99L2 was set to GREEN Added comment: PMID 41690933 identified loss‑of‑function variants in CD99L2 gene in 25 males from 20 unrelated families with X-linked spastic ataxia. The age of onset ranged from 10-68yrs, and the main presenting features were gait disturbances and spasticity (mostly lower limbs), ataxia, dysarthria, oculomotor abnormalities, sensory deficits, and dysphagia. Only 2/19 individuals had cerebellar atrophy on MRI brain. Only 1/4 female carriers had any clinical features. RNA‑seq showed reduced CD99L2 transcripts and western blot demonstrated loss of full‑length protein. Loss of CD99L2 in patients’ fibroblasts triggered transcriptional dysregulation of genes linked to neuronal and synaptic function. Ablation of cytoplasmic or extracellular domains of CD99L2 lead to its intracellular mislocalisation and abrogation of its interplay with CAPN1 (a calcium-dependent cysteine protease involved in neuronal plasticity). Sources: Literature |
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