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Hereditary spastic paraplegia, adult onset v2.7 HSPD1 Mafalda Gomes Tag Q2_22_rating was removed from gene: HSPD1.
Tag Q2_22_expert_review was removed from gene: HSPD1.
Hereditary spastic paraplegia, adult onset v2.7 HSPD1 Mafalda Gomes reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, adult onset v1.101 HSPD1 Arina Puzriakova Classified gene: HSPD1 as Amber List (moderate evidence)
Hereditary spastic paraplegia, adult onset v1.101 HSPD1 Arina Puzriakova Added comment: Comment on list classification: The evidence for this gene-disease association is borderline as only 2 families have been reported to date with HSPD1-related AD adult-onset SPG which may be associated with variable penetrance. However, this phenotype is likely best represented by the R60 panel which may justify its inclusion to minimise risk of missing diagnoses - this will be flagged for GMS discussion to determine the most appropriate classification given the current evidence.
Hereditary spastic paraplegia, adult onset v1.101 HSPD1 Arina Puzriakova Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, adult onset v1.100 HSPD1 Arina Puzriakova Publications for gene: HSPD1 were set to 11898127
Hereditary spastic paraplegia, adult onset v1.99 HSPD1 Arina Puzriakova Tag Q2_22_rating tag was added to gene: HSPD1.
Tag Q2_22_expert_review tag was added to gene: HSPD1.
Hereditary spastic paraplegia, adult onset v1.99 HSPD1 Arina Puzriakova reviewed gene: HSPD1: Rating: ; Mode of pathogenicity: None; Publications: 10677329, 11898127, 17420924; Phenotypes: Spastic paraplegia 13, autosomal dominant, OMIM:605280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia, adult onset v1.99 HSPD1 Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 to Spastic paraplegia 13, autosomal dominant, OMIM:605280
Hereditary spastic paraplegia, adult onset v1.98 HSPD1 Arina Puzriakova Penetrance for gene HSPD1 was set from to None
Hereditary spastic paraplegia, adult onset v0.146 HSPD1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, adult onset v0.96 HSPD1 Louise Daugherty Publications for gene: HSPD1 were set to
Hereditary spastic paraplegia, adult onset v0.54 HSPD1 Louise Daugherty Source Yorkshire and North East GLH was added to HSPD1.
Hereditary spastic paraplegia, adult onset v0.53 HSPD1 Nick Beauchamp reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11898127; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.53 HSPD1 Louise Daugherty commented on gene: HSPD1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia, adult onset v0.6 HSPD1 Louise Daugherty reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, adult onset v0.5 HSPD1 James Polke reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280, Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia, adult onset v0.4 HSPD1 Louise Daugherty Source Expert Review Amber was added to HSPD1.
Mode of inheritance for gene HSPD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 for gene: HSPD1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia, adult onset v0.3 HSPD1 Louise Daugherty Source NHS GMS was added to HSPD1.
Hereditary spastic paraplegia, adult onset v0.2 HSPD1 Louise Daugherty gene: HSPD1 was added
gene: HSPD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: HSPD1 was set to