Cerebral Palsy
Gene: ROGDI
ROGDI (rogdi homolog)
EnsemblGeneIds (GRCh38): ENSG00000067836
EnsemblGeneIds (GRCh37): ENSG00000067836
OMIM: 614574, Gene2Phenotype
ROGDI is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000067836
EnsemblGeneIds (GRCh37): ENSG00000067836
OMIM: 614574, Gene2Phenotype
ROGDI is in 8 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with biallelic pathogenic LOF variants (1 stopgain,1 splice) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Kohlschutter-Tonz syndrome is characterized by a consistent phenotype of severe global developmental delay, early-onset intractable seizures, progressive spasticity, and amelogenesis imperfecta causing discoloration of both primary and secondary teeth.
Sources: LiteratureCreated: 24 Jun 2024, 2:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kohlschutter-Tonz syndrome, MIM#226750
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Kohlschutter-Tonz syndrome, MIM#226750
- OMIM
- 614574
- Clinvar variants
- Variants in ROGDI
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
24 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rogdi has been classified as Red List (Low Evidence).
24 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rogdi has been classified as Red List (Low Evidence).
24 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: ROGDI was added gene: ROGDI was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROGDI were set to PMID: 38693247 Phenotypes for gene: ROGDI were set to Kohlschutter-Tonz syndrome, MIM#226750 Review for gene: ROGDI was set to RED