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Genetic epilepsy syndromes

Gene: RALGAPA1

Green List (high evidence)

RALGAPA1 (Ral GTPase activating protein catalytic alpha subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000174373
EnsemblGeneIds (GRCh37): ENSG00000174373
OMIM: 608884, Gene2Phenotype
RALGAPA1 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for RALGAPA1-related neurodevelopmental disorder. At least 5 variants reported in at least 4 unrelated cases.
Created: 23 Mar 2020, 2:32 p.m. | Last Modified: 23 Mar 2020, 2:32 p.m.
Panel Version: 2.11
Comment on phenotypes: Intellectual disability;hypotonia;infantile spasms
Created: 23 Mar 2020, 2:21 p.m. | Last Modified: 23 Mar 2020, 2:21 p.m.
Panel Version: 2.10

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported.
Sources: Expert list
Created: 2 Feb 2020, 11:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; hypotonia; infantile spasms.

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • .Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797
OMIM
608884
Clinvar variants
Variants in RALGAPA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ralgapa1 has been classified as Green List (High Evidence).

23 Mar 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RALGAPA1 were changed from Intellectual disability; hypotonia; infantile spasms. to .Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797

2 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RALGAPA1 was added gene: RALGAPA1 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RALGAPA1 were set to 32004447 Phenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms. Review for gene: RALGAPA1 was set to GREEN gene: RALGAPA1 was marked as current diagnostic