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  2. Polymicrogyria and Schizencephaly
  3. RAC3
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Polymicrogyria and Schizencephaly

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

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Polymicrogyria commonly reported in cohort of 10 patients
Sources: Literature
Created: 4 Aug 2022, 6:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 4 Aug 2022, 6:27 a.m.

Panel version: 0.177

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
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

4 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

4 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

4 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

4 Aug 2022, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: RAC3 was added gene: RAC3 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAC3 were set to 35851598 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