Macrocephaly_Megalencephaly
Gene: RAB5CEnsemblGeneIds (GRCh38): ENSG00000108774
EnsemblGeneIds (GRCh37): ENSG00000108774
OMIM: 604037, Gene2Phenotype
RAB5C is in 4 panels
1 review
Rylee Peters (Victorian Clinical Genetics Services)
12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: LiteratureCreated: 7 Sep 2023, 2:46 a.m. | Last Modified: 7 Sep 2023, 2:52 a.m.
Panel Version: 0.132
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Publications
- PMID: 37552066
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder MONDO:0700092, RAB5C-related
- OMIM
- 604037
- Clinvar variants
- Variants in RAB5C
- Penetrance
- Complete
- Publications
-
- PMID: 37552066
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: rab5c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: rab5c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: rab5c has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Rylee Peters (Victorian Clinical Genetics Services)gene: RAB5C was added gene: RAB5C was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB5C were set to PMID: 37552066 Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related Penetrance for gene: RAB5C were set to Complete Review for gene: RAB5C was set to GREEN gene: RAB5C was marked as current diagnostic