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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ten individuals with de novo variants in this gene, six of these at two codons only: Val25 and Lys128.
Sources: Literature
Created: 4 Jan 2020, 6:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311; Intellectual disability; short stature; dysmorphism

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311
  • Intellectual disability
  • short stature
  • dysmorphism
OMIM
179550
Clinvar variants
Variants in RALA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RALA were changed from Intellectual disability; short stature; dysmorphism to Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311; Intellectual disability; short stature; dysmorphism

4 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RALA was added gene: RALA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RALA were set to 30500825 Phenotypes for gene: RALA were set to Intellectual disability; short stature; dysmorphism Review for gene: RALA was set to GREEN