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Hereditary spastic paraplegia, childhood onset v3.9 HSPD1 Mafalda Gomes Tag Q2_22_rating was removed from gene: HSPD1.
Hereditary spastic paraplegia, childhood onset v3.9 HSPD1 Mafalda Gomes reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v3.8 HSPD1 Mafalda Gomes Source Expert Review Green was added to HSPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v2.137 HSPD1 Arina Puzriakova Classified gene: HSPD1 as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v2.137 HSPD1 Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update under the AR inheritance pattern for the childhood-onset panel.
Hereditary spastic paraplegia, childhood onset v2.137 HSPD1 Arina Puzriakova Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v2.136 HSPD1 Arina Puzriakova Tag Q2_22_rating tag was added to gene: HSPD1.
Hereditary spastic paraplegia, childhood onset v2.136 HSPD1 Arina Puzriakova Publications for gene: HSPD1 were set to 17420924; 10677329; 11898127
Hereditary spastic paraplegia, childhood onset v2.135 HSPD1 Arina Puzriakova Added comment: Comment on mode of inheritance: Changed from 'monoallelic' to 'biallelic' as per the review by Zornitza Stark (Australian Genomics) stating that only biallelic variants cause a more severe phenotype including spasticity with onset in childhood.
Hereditary spastic paraplegia, childhood onset v2.135 HSPD1 Arina Puzriakova Mode of inheritance for gene: HSPD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v2.134 HSPD1 Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant, 605280 to Leukodystrophy, hypomyelinating, 4, OMIM:612233
Hereditary spastic paraplegia, childhood onset v2.15 HSPD1 Zornitza Stark reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233, Spastic paraplegia 13, autosomal dominant, MIM# 605280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.164 HSPD1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, childhood onset v1.91 HSPD1 Louise Daugherty Publications for gene: HSPD1 were set to 17420924; 10677329
Hereditary spastic paraplegia, childhood onset v1.75 HSPD1 Louise Daugherty Source Yorkshire and North East GLH was added to HSPD1.
Hereditary spastic paraplegia, childhood onset v1.74 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, childhood onset v1.74 HSPD1 Louise Daugherty commented on gene: HSPD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia, childhood onset v1.48 HSPD1 Louise Daugherty edited their review of gene: HSPD1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary spastic paraplegia, childhood onset v1.6 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, childhood onset v1.5 HSPD1 Louise Daugherty Source NHS GMS was added to HSPD1.
Hereditary spastic paraplegia, childhood onset v1.4 HSPD1 Louise Daugherty Source London North GLH was added to HSPD1.
Hereditary spastic paraplegia, childhood onset v1.3 HSPD1 Louise Daugherty Added phenotypes Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1
Hereditary spastic paraplegia, childhood onset v0.105 HSPD1 Louise Daugherty Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant; 605280 to Spastic paraplegia 13, autosomal dominant, 605280
Hereditary spastic paraplegia, childhood onset v0.104 HSPD1 Louise Daugherty Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant to Spastic paraplegia 13, autosomal dominant; 605280
Hereditary spastic paraplegia, childhood onset v0.103 HSPD1 Louise Daugherty Publications for gene: HSPD1 were set to Hansen et al. (2002)
Hereditary spastic paraplegia, childhood onset v0.102 HSPD1 Louise Daugherty Classified gene: HSPD1 as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v0.102 HSPD1 Louise Daugherty Added comment: Comment on list classification: demoted from Green to Amber after internal clinical review
Hereditary spastic paraplegia, childhood onset v0.102 HSPD1 Louise Daugherty Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v0.62 HSPD1 Arianna Tucci commented on gene: HSPD1
Hereditary spastic paraplegia, childhood onset v0.6 HSPD1 Sarah Leigh gene: HSPD1 was added
gene: HSPD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPD1 were set to Hansen et al. (2002)
Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant