Cerebral Palsy
Gene: MED13LEnsemblGeneIds (GRCh38): ENSG00000123066
EnsemblGeneIds (GRCh37): ENSG00000123066
OMIM: 608771, Gene2Phenotype
MED13L is in 11 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: LiteratureCreated: 27 May 2024, 6:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM#616789
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM#616789
- OMIM
- 608771
- Clinvar variants
- Variants in MED13L
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: med13l has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: med13l 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: MED13L was added gene: MED13L was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MED13L were set to PMID: 38693247 Phenotypes for gene: MED13L were set to Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM#616789 Review for gene: MED13L was set to AMBER