Cerebral Palsy
Gene: TRAPPC9EnsemblGeneIds (GRCh38): ENSG00000167632
EnsemblGeneIds (GRCh37): ENSG00000167632
OMIM: 611966, Gene2Phenotype
TRAPPC9 is in 10 panels
1 review
Luisa Weiss (University of Adelaide)
Two larger CP cohort studies with one patient each harboring biallelic TRAPPC9 mutations. No phenotypic information is given. In addition, one case report of a girl with CP and intellectual disability and biallelic TRAPPC9 mutations.
Sources: LiteratureCreated: 1 Aug 2023, 12:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive MIM#13 613192
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder, autosomal recessive MIM#13 613192
- OMIM
- 611966
- Clinvar variants
- Variants in TRAPPC9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trappc9 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trappc9 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: TRAPPC9 was added gene: TRAPPC9 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC9 were set to 33528536; 34540776; 36475161 Phenotypes for gene: TRAPPC9 were set to Intellectual developmental disorder, autosomal recessive MIM#13 613192 Review for gene: TRAPPC9 was set to GREEN