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Date	Panel	Item	Activity
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13 Apr 2022	Hereditary spastic paraplegia v1.295	HSPD1	Arina Puzriakova Publications for gene: HSPD1 were set to Hansen et al. (2002)
13 Apr 2022	Hereditary spastic paraplegia v1.294	HSPD1	Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'monoallelic' only to 'both mono- and biallelic'. Biallelic variants cause a paediatric-onset leukodystrophy, with spasticity as a feature (MIM# 612233), while monoallelic variants have been associated with adult-onset HSP (MIM# 605280) - both phenotypes are relevant to this panel.
13 Apr 2022	Hereditary spastic paraplegia v1.294	HSPD1	Arina Puzriakova Mode of inheritance for gene: HSPD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
13 Apr 2022	Hereditary spastic paraplegia v1.293	HSPD1	Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant to Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR); Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)