Autism
Gene: CLCN4EnsemblGeneIds (GRCh38): ENSG00000073464
EnsemblGeneIds (GRCh37): ENSG00000073464
OMIM: 302910, Gene2Phenotype
CLCN4 is in 7 panels
1 review
Elizabeth Palmer (University of New South Wales)
In PMID: 27550844 significant behavioral or mental health issues were noted in 19 (66%) males: hetero-aggressive behavior was reported in 8 males, auto-aggressive behavior in 3 males, repetitive autistic or obsessive–compulsive like behaviors in 7 males and hyperactivity in 3 males.
Sources: LiteratureCreated: 5 Mar 2021, 12:50 a.m.
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
autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar
Publications
- PMID: 27550844
Variants in this GENE are reported as part of current diagnostic practice
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
- Phenotypes
-
- Raynaud-Claes syndrome, MIM# 300114
- autism
- intellectual disability
- hypoplasia or agenesis of the corpus callosum
- bipolar
- OMIM
- 302910
- Clinvar variants
- Variants in CLCN4
- Penetrance
- Complete
- Publications
-
- PMID: 27550844
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clcn4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CLCN4 were changed from autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar to Raynaud-Claes syndrome, MIM# 300114; autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clcn4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Elizabeth Palmer (University of New South Wales)gene: CLCN4 was added gene: CLCN4 was added to Autism. Sources: Literature Mode of inheritance for gene: CLCN4 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: CLCN4 were set to PMID: 27550844 Phenotypes for gene: CLCN4 were set to autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar Penetrance for gene: CLCN4 were set to Complete Review for gene: CLCN4 was set to GREEN gene: CLCN4 was marked as current diagnostic