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  3. RALA
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Fetal anomalies

Gene: RALA

Green List (high evidence)
RALA (RAS like proto-oncogene A)
EnsemblGeneIds (GRCh38): ENSG00000006451
EnsemblGeneIds (GRCh37): ENSG00000006451
OMIM: 179550, Gene2Phenotype
RALA 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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. Heterozygous LoF variants lead to Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) characterised by GDD and ID with poor or absent speech. Other features include axial hypotonia, feeding difficulties, dysmorphic facies, short stature, low weight, seizures, autistic or behavioral abnormalities, and brain abnormalities, such as dysplastic corpus callosum, periventricular gliosis, incomplete myelination, megalencephaly, ventriculomegaly and polymicrogyria. Skeletal anomalies incl long thin fingers, fifth finger or toe clinodactyly, and hyperextensible joints. PMID: 39918382 reported polyhydramnios on prenatal USS of one patient.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hiatt-Neu-Cooper neurodevelopmental syndrome, OMIM:619311

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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hiatt-Neu-Cooper neurodevelopmental syndrome, OMIM:619311
OMIM
179550
Clinvar variants
Variants in RALA
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Hiatt-Neu-Cooper neurodevelopmental syndrome, OMIM:619311 for gene: RALA

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: RALA was added gene: RALA was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted