Speech apraxia
Gene: KDM5CEnsemblGeneIds (GRCh38): ENSG00000126012
EnsemblGeneIds (GRCh37): ENSG00000126012
OMIM: 314690, Gene2Phenotype
KDM5C is in 10 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
An in-house (as yet unpublished) CAS proband with a pathogenic variant.Created: 12 Sep 2024, 10:04 a.m. | Last Modified: 12 Sep 2024, 10:04 a.m.
Panel Version: 1.6
First reported CAS case with a de novo KDM5C frameshift variant (Kaspi et al., 2022; PMID: 36117209).
Leonardi et al. (2023; PMID: 36434256) report 30 individuals with KDM5C variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of speech/verbal apraxia or dyspraxia though.
Note: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes.
Sources: Expert list, Expert ReviewCreated: 27 Jun 2024, 9:31 a.m. | Last Modified: 18 Jul 2024, 10:59 a.m.
Panel Version: 1.0
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, MIM# 300534
Publications
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 Red
- Phenotypes
-
- Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, MIM# 300534
- OMIM
- 314690
- Clinvar variants
- Variants in KDM5C
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kdm5c has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kdm5c has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: KDM5C was added gene: KDM5C was added to Speech apraxia. Sources: Expert list,Expert Review 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 36117209; 36434256 Phenotypes for gene: KDM5C were set to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, MIM# 300534 Review for gene: KDM5C was set to RED