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Hereditary spastic paraplegia, adult onset v1.104 KDM5C Arina Puzriakova Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534
Hereditary spastic paraplegia, adult onset v1.95 KDM5C Ivone Leong Tag Q3_21_expert_review was removed from gene: KDM5C.
Tag Q3_21_phenotype was removed from gene: KDM5C.
Hereditary spastic paraplegia, adult onset v1.95 KDM5C Sarah Leigh commented on gene: KDM5C
Hereditary spastic paraplegia, adult onset v1.94 KDM5C Ivone Leong Source Expert Review Amber was added to KDM5C.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia, adult onset v1.40 KDM5C Arina Puzriakova Publications for gene: KDM5C were set to 10982473; 26919706; 15586325; 18697827
Hereditary spastic paraplegia, adult onset v1.39 KDM5C Arina Puzriakova Tag Q3_21_expert_review tag was added to gene: KDM5C.
Tag Q3_21_phenotype tag was added to gene: KDM5C.
Hereditary spastic paraplegia, adult onset v1.39 KDM5C Arina Puzriakova reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: None; Publications: 10982473, 15586325, 18697827, 19826449, 26919706, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, OMIM:300534; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary spastic paraplegia, adult onset v1.7 KDM5C Zornitza Stark reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia, adult onset v0.148 KDM5C Louise Daugherty commented on gene: KDM5C: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia, adult onset v0.146 KDM5C Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, adult onset v0.99 KDM5C Louise Daugherty Publications for gene: KDM5C were set to 10982473; 26919706; 15586325
Hereditary spastic paraplegia, adult onset v0.54 KDM5C Louise Daugherty Source Yorkshire and North East GLH was added to KDM5C.
Hereditary spastic paraplegia, adult onset v0.53 KDM5C Nick Beauchamp reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 10982473, 15586325, 26919706, 18697827; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.53 KDM5C Louise Daugherty commented on gene: KDM5C: 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 v0.42 KDM5C Louise Daugherty commented on gene: KDM5C: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia, adult onset v0.30 KDM5C Louise Daugherty Added phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C
Publications for gene KDM5C were changed from to 10982473; 26919706; 15586325
Hereditary spastic paraplegia, adult onset v0.29 KDM5C Chris Buxton reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: 10982473, 15586325, 26919706; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary spastic paraplegia, adult onset v0.28 KDM5C Louise Daugherty Source South West GLH was added to KDM5C.
Hereditary spastic paraplegia, adult onset v0.6 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, adult onset v0.5 KDM5C James Polke reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary spastic paraplegia, adult onset v0.4 KDM5C Louise Daugherty Source Expert Review Green was added to KDM5C.
Mode of inheritance for gene KDM5C was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia, adult onset v0.3 KDM5C Louise Daugherty Source NHS GMS was added to KDM5C.
Hereditary spastic paraplegia, adult onset v0.2 KDM5C Louise Daugherty gene: KDM5C was added
gene: KDM5C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KDM5C was set to