Cerebral Palsy
Gene: HIVEP2EnsemblGeneIds (GRCh38): ENSG00000010818
EnsemblGeneIds (GRCh37): ENSG00000010818
OMIM: 143054, Gene2Phenotype
HIVEP2 is in 5 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, 6:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 43, MIM#616977
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Intellectual developmental disorder, autosomal dominant 43, MIM#616977
- OMIM
- 143054
- Clinvar variants
- Variants in HIVEP2
- 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: hivep2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hivep2 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: HIVEP2 was added gene: HIVEP2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HIVEP2 were set to PMID: 38693247 Phenotypes for gene: HIVEP2 were set to Intellectual developmental disorder, autosomal dominant 43, MIM#616977 Review for gene: HIVEP2 was set to RED