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| Hereditary Spastic Paraplegia - paediatric v0.176 | CYP2U1 | Zornitza Stark changed review comment from: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade.; to: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade. More than 5 unrelated families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.156 | ALK | Zornitza Stark Marked gene: ALK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.156 | ALK | Zornitza Stark Gene: alk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.156 | ALK | Zornitza Stark Classified gene: ALK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.156 | ALK | Zornitza Stark Gene: alk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.155 | ALK |
Dean Phelan gene: ALK was added gene: ALK was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALK were set to PMID: 32989326 Phenotypes for gene: ALK were set to Spastic-dystonic diplegia Review for gene: ALK was set to AMBER Added comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two patients with spastic diplegia with mild tremor, scattered subcortical hyperintensities and an atrial septal defect; and spastic-dystonic diplegia, white matter abnormalities and epilepsy, respectively, with no evidence of neuroblastoma in either patient Sources: Literature |
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| Hereditary Spastic Paraplegia - paediatric v0.134 | SARS2 |
Zornitza Stark gene: SARS2 was added gene: SARS2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 27279129 Phenotypes for gene: SARS2 were set to Progressive spastic paraplegia Review for gene: SARS2 was set to RED Added comment: Single individual reported with homozygous splicing mutation in SARS2 and with progressive spastic paresis rather than HUPRA syndrome (hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis) which is generally associated with missense variants in this gene. Sources: Literature |
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