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Mendeliome

Gene: RAC3

Green List (high evidence)

RAC3 (Rac family small GTPase 3)
EnsemblGeneIds (GRCh38): ENSG00000169750
EnsemblGeneIds (GRCh37): ENSG00000169750
OMIM: 602050, Gene2Phenotype
RAC3 is in 5 panels

1 review

Natalie Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple unrelated individuals with heterozygous missense variants and a concordant phenotype (severe intellectual disability with brain malformations). No functional studies to date.
Sources: Literature
Created: 21 Jul 2021, 12:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577
OMIM
602050
Clinvar variants
Variants in RAC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rac3 has been classified as Green List (High Evidence).

21 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rac3 has been classified as Green List (High Evidence).

21 Jul 2021, Gel status: 0

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

Natalie Tan (Victorian Clinical Genetics Services)

gene: RAC3 was added gene: RAC3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAC3 were set to PMID: 30293988; 29276006 Phenotypes for gene: RAC3 were set to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Review for gene: RAC3 was set to GREEN