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Intellectual disability syndromic and non-syndromic

Gene: RAB5C

Green List (high evidence)

RAB5C (RAB5C, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000108774
EnsemblGeneIds (GRCh37): ENSG00000108774
OMIM: 604037, Gene2Phenotype
RAB5C is in 4 panels

1 review

Rylee Peters (Victorian Clinical Genetics Services)

Green List (high evidence)

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 to severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Created: 7 Sep 2023, 2:35 a.m. | Last Modified: 7 Sep 2023, 2:41 a.m.
Panel Version: 0.5390

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder MONDO:0700092, RAB5C-related

Publications

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
Panels with this gene

History Filter Activity

7 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: rab5c has been classified as Green List (High Evidence).

7 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: rab5c has been classified as Green List (High Evidence).

7 Sep 2023, Gel status: 0

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 Intellectual disability syndromic and non-syndromic. 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