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  3. KDM5C
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Hereditary Spastic Paraplegia - paediatric

Gene: KDM5C

Green List (high evidence)
KDM5C (lysine demethylase 5C)
EnsemblGeneIds (GRCh38): ENSG00000126012
EnsemblGeneIds (GRCh37): ENSG00000126012
OMIM: 314690, Gene2Phenotype
KDM5C is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive lower limb spasticity is a feature of this ID syndrome. More than 5 unrelated families reported.
Created: 14 Mar 2021, 4:40 a.m. | Last Modified: 14 Mar 2021, 4:40 a.m.
Panel Version: 0.182

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355

Publications

Created: 14 Mar 2021, 4:40 a.m.
Last Modified: 14 Mar 2021, 4:40 a.m.
Panel version: 0.182

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534
  • MONDO:0010355
OMIM
314690
Clinvar variants
Variants in KDM5C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: KDM5C were changed from Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355; progressive spasticity; hypothyroidism; developmental delay; epilepsy to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355

14 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdm5c has been classified as Green List (High Evidence).

14 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KDM5C were changed from Intellectual disability; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; progressive spasticity; hypothyroidism; developmental delay; epilepsy to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355; progressive spasticity; hypothyroidism; developmental delay; epilepsy

14 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KDM5C were set to

31 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: KDM5C was added gene: KDM5C was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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) Phenotypes for gene: KDM5C were set to Intellectual disability; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; progressive spasticity; hypothyroidism; developmental delay; epilepsy