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Hereditary spastic paraplegia v1.297 | KDM5C | Arina Puzriakova Phenotypes for gene: KDM5C were changed from Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.247 | KIF1C | Arina Puzriakova changed review comment from: Comment on list classification: Upgraded from Amber to Green as there are now sufficient unrelated cases (>3) of spasticity associated with variants in this gene (updated references in publications list). KDM5C is also already Green on the GMS-equivalent HSP panels.; to: Comment on list classification: Upgraded from Amber to Green as there are now sufficient unrelated cases (>3) of spasticity associated with variants in this gene (updated references in publications list). KIF1C is also already Green on the GMS-equivalent HSP panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.245 | KIF1C | Arina Puzriakova Added comment: Comment on list classification: Upgraded from Amber to Green as there are now sufficient unrelated cases (>3) of spasticity associated with variants in this gene (updated references in publications list). KDM5C is also already Green on the GMS-equivalent HSP panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.241 | KDM5C | Arina Puzriakova Publications for gene: KDM5C were set to 10982473; 15586325; 26919706 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.240 | KDM5C | Arina Puzriakova Classified gene: KDM5C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.240 | KDM5C | Arina Puzriakova Added comment: Comment on list classification: Upgraded from Amber to Green as there are now sufficient unrelated cases (>3) of spastic paraplegia with variants in this gene (updated references in publications list). KDM5C is also already Green on the GMS-equivalent HSP panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.240 | KDM5C | Arina Puzriakova Gene: kdm5c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.239 | KDM5C | Arina Puzriakova Tag watchlist was removed from gene: KDM5C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.203 | KDM5C | Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.167 | KDM5C | Rebecca Foulger commented on gene: KDM5C: Added 'watchlist' tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.167 | KDM5C | Rebecca Foulger Tag watchlist tag was added to gene: KDM5C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.167 | KDM5C | Rebecca Foulger Classified gene: KDM5C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.167 | KDM5C | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber. Gene added to panel and rated Red by Chris Buxton (Bristol NHS). MIM:300534 is characterized by ID, progressive spastic paraplegia, short stature, microcephaly, and dysmorphic facial appearance. Chris Buxton reports 2 families from the literature (PMIDs10982473; 15586325; 26919706) with KDM5C variants and spastic paraplegia symptoms. Therefore Amber awaiting further cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.167 | KDM5C | Rebecca Foulger Gene: kdm5c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.166 | KDM5C |
Rebecca Foulger commented on gene: KDM5C: PMID:26919706 investigated a family of 3 boys with ID and among them identified two different variants in KDM5C: Two affected boys have c.633delG and the other has c.631delC. The boys presented with severe DD, progressive spasticity (predominantly in the lower limbs), epilepsy and subclinical hypothyroidism. The mother has two different frameshift mutations: a heterozygous germline mutation, c.631delC, and a low-prevalence somatic mutation, c.633delG. |
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Hereditary spastic paraplegia v1.166 | KDM5C | Rebecca Foulger commented on gene: KDM5C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.166 | KDM5C | Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.137 | KDM5C | Sarah Leigh Classified gene: KDM5C as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.137 | KDM5C | Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.137 | KDM5C | Sarah Leigh Gene: kdm5c has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.71 | KDM5C |
Chris Buxton gene: KDM5C was added gene: KDM5C was added to Hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: KDM5C were set to 10982473; 15586325; 26919706 Phenotypes for gene: KDM5C were set to Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism Penetrance for gene: KDM5C were set to unknown Review for gene: KDM5C was set to RED Added comment: Claes (2000, 10982473) reported candidate HSP locus Xp21.1-Xq21.3. Jensen (2005, 15586325) identified as JARID1C(syn)/KDM5C gene: c.2191C>T Leu731Phe. 4 males in same pedigree: two generations present with severe MR, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia. Additional features are aggressive behavior and strabismus; Fujita (2016, 26919706). Two different fs deletion variants. maternal reversion mechanims? Progressive spasticity component to phenotype. Currently diagnostic on Sheffield's HSP panel Sources: Literature |