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Intellectual disability

Gene: RALGAPA1

Amber List (moderate evidence)

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 4:06 p.m. | Last Modified: 20 Oct 2020, 4:06 p.m.
Panel Version: 3.481

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: 3.12
Comment on phenotypes: Intellectual disability;hypotonia;infantile spasms.
Created: 23 Mar 2020, 2:22 p.m. | Last Modified: 23 Mar 2020, 2:22 p.m.
Panel Version: 3.11

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported.
Sources: Expert list
Created: 2 Feb 2020, 10:56 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 Amber
Phenotypes
  • Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797
Tags
for-review
OMIM
608884
Clinvar variants
Variants in RALGAPA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ralgapa1 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: RALGAPA1.

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 Intellectual disability. 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