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Leukodystrophy - paediatric v0.205 HPDL Zornitza Stark Marked gene: HPDL as ready
Leukodystrophy - paediatric v0.205 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.205 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Leukodystrophy - paediatric v0.205 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.204 HPDL Zornitza Stark gene: HPDL was added
gene: HPDL was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. Extensive MRI abnormalities described, primarily affecting white matter (white matter atrophy and deficient myelination), basal ganglia, thalamus and brainstem.
Sources: Literature