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Early onset or syndromic epilepsy


Red List (low evidence)

RALGAPB (Ral GTPase activating protein non-catalytic beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000170471
EnsemblGeneIds (GRCh37): ENSG00000170471
RALGAPB is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Rating Red as this currently represents a candidate gene and only a single individual has been reported with a relevant phenotype. Primary phenotype associated with this gene has been ASD which is not within the scope of this panel.
Created: 18 May 2022, 2:23 p.m. | Last Modified: 18 May 2022, 2:23 p.m.
Panel Version: 2.523

Zornitza Stark (Australian Genomics)

I don't know

PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort.
Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense, epilepsy only present in 2/10 and ID in 1/10.

Variants in this gene cause a neurodevelopmental disorder, but autism seems to be the most prominent feature.
Sources: Literature
Created: 7 Jan 2021, 9:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Neurodevelopmental disorders, autism



Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Expert Review Red
  • Neurodevelopmental disorders, autism
Clinvar variants
Variants in RALGAPB
Panels with this gene

History Filter Activity

18 May 2022, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ralgapb has been classified as Red List (Low Evidence).

7 Jan 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RALGAPB was added gene: RALGAPB was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RALGAPB were set to 32853829 Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism Review for gene: RALGAPB was set to AMBER