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  3. RAB5C
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Early onset or syndromic epilepsy

Gene: RAB5C

Green List (high evidence)
RAB5C (RAB5C, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000108774
EnsemblGeneIds (GRCh37): ENSG00000108774
OMIM: 604037, Gene2Phenotype
RAB5C is in 3 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 1:13 p.m. | Last Modified: 6 May 2024, 9:23 p.m.
Panel Version: 5.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 2 May 2024, 1:13 p.m.
Last Modified: 6 May 2024, 9:23 p.m.
Panel version: 5.6

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence (4 unrelated cases) for this gene to be promoted to green rating in this panel at the next GMS update.
Created: 14 Sep 2023, 10:28 a.m. | Last Modified: 14 Sep 2023, 10:28 a.m.
Panel Version: 4.101
Created: 14 Sep 2023, 10:28 a.m.
Last Modified: 14 Sep 2023, 10:28 a.m.
Panel version: 4.101

Zornitza Stark (Australian Genomics)

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-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Created: 7 Sep 2023, 7:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder MONDO:0700092, RAB5C-related

Publications

Created: 7 Sep 2023, 7:13 a.m.

Copied from panel: Intellectual disability - microarray and sequencing v5.285

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Tags
gene-checked
OMIM
604037
Clinvar variants
Variants in RAB5C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2024, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: RAB5C.

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: RAB5C.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to RAB5C. Source Expert Review Green was added to RAB5C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: rab5c has been classified as Amber List (Moderate Evidence).

14 Sep 2023, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RAB5C was added gene: RAB5C was added to Early onset or syndromic epilepsy. Sources: Literature,Expert Review Amber Q3_23_promote_green tags were added to gene: RAB5C. Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB5C were set to 37552066 Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related