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Fetal anomalies

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 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Green List (high evidence)

Green gene on R27, R29, R59. Biallelic LoF variants lead to Neurodevelopmental disorder with profound hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT) is a severe AR disorder characterised by neonatal respiratory distress, poor feeding, severe GDD/ID, neonatal respiratory insufficiency requiring intervention, cortical visual impairment, cataracts, central temperature dysregulation, dysmorphic features and seizures. Brain MRI features include Brain imaging showed thin corpus or dysplastic corpus callosum in all, with gray matter heterotopia, ectopic or underdeveloped pituitary, brain atrophy, and abnormal signals in the basal ganglia. In additional 2 unrelated patients with a het microdeletion including this gene with a neurological phenotype, there are 4 patients from 4 unrelated families have been reported with biallelic variants with functional data demonstrayting increased RalA activity. There is partially overlapping phenotype between RALAand RALGAPA1-associated diseases with likely that dysregulation of the RalA signaling pathway leads to a distinct group of genetic syndromes called RALopathies.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, OMIM:618797

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

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

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, OMIM:618797 for gene: RALGAPA1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: RALGAPA1 was added gene: RALGAPA1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal