Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: RALA

Green List (high evidence)

RALA (RAS like proto-oncogene A)
EnsemblGeneIds (GRCh38): ENSG00000006451
EnsemblGeneIds (GRCh37): ENSG00000006451
OMIM: 179550, Gene2Phenotype
RALA is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: RALA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Global developmental delay;Seizures;Abnormality of nervous system morphology;Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology;Intellectual disability; Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology
  • Global developmental delay
  • Abnormality of nervous system morphology
  • Seizures
  • Intellectual disability
OMIM
179550
Clinvar variants
Variants in RALA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene RALA were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene RALA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology; Global developmental delay; Abnormality of nervous system morphology; Seizures; Intellectual disability for gene: RALA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology; Global developmental delay; Abnormality of nervous system morphology; Seizures; Intellectual disability for gene: RALA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology; Global developmental delay; Abnormality of nervous system morphology; Seizures; Intellectual disability for gene: RALA

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Intellectual disability; Global developmental delay; Abnormality of nervous system morphology; Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology; Seizures for gene: RALA

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to RALA.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to RALA. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RALA was added gene: RALA was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: RALA was set to