Cerebral Palsy
Gene: RTTNEnsemblGeneIds (GRCh38): ENSG00000176225
EnsemblGeneIds (GRCh37): ENSG00000176225
OMIM: 610436, Gene2Phenotype
RTTN is in 10 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Hypotonia and spasticity have been reported in MSSP.
Sources: LiteratureCreated: 24 Jun 2024, 2:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833
- OMIM
- 610436
- Clinvar variants
- Variants in RTTN
- 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: rttn has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rttn 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: RTTN was added gene: RTTN was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTTN were set to PMID: 38693247 Phenotypes for gene: RTTN were set to Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833 Review for gene: RTTN was set to RED