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  3. RHEB
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Fetal anomalies

Gene: RHEB

Red List (low evidence)
RHEB (Ras homolog, mTORC1 binding)
EnsemblGeneIds (GRCh38): ENSG00000106615
EnsemblGeneIds (GRCh37): ENSG00000106615
OMIM: 601293, Gene2Phenotype
RHEB is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

Red List (low evidence)

No evidence of prenatal phenotype; first paper - three individuals (two siblings and singleton) found to have early brain overgrowth and pronounced macrocephaly during childhood; second paper - one patient with focal cortical dysplasia type II, postnatal MRI diagnosis aged 4-5 years
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macrocephaly; Intellectual disability; Focal cortical dysplasia

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macrocephaly
  • Intellectual disability
  • Focal cortical dysplasia
OMIM
601293
Clinvar variants
Variants in RHEB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RHEB was added gene: RHEB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: RHEB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHEB were set to 29051493; 31337748 Phenotypes for gene: RHEB were set to Macrocephaly; Intellectual disability; Focal cortical dysplasia