Cerebral Palsy
Gene: TRPM3EnsemblGeneIds (GRCh38): ENSG00000083067
EnsemblGeneIds (GRCh37): ENSG00000083067
OMIM: 608961, Gene2Phenotype
TRPM3 is in 6 panels
1 review
Clare van Eyk (University of Adelaide)
Single case report of child with a likely pathogenic de novo missense variant in the ion transport domain of TRPM3 and neurodevelopmental delay with CP (PMID: 37684057). Cerebral palsy has not previously been reported.
Sources: LiteratureCreated: 26 Jul 2024, 2:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), MIM#620224)
Publications
- PMID: 37684057
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), MIM#620224)
- OMIM
- 608961
- Clinvar variants
- Variants in TRPM3
- Penetrance
- None
- Publications
-
- PMID: 37684057
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trpm3 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trpm3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: TRPM3 was added gene: TRPM3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM3 were set to PMID: 37684057 Phenotypes for gene: TRPM3 were set to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), MIM#620224) Review for gene: TRPM3 was set to RED