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Fetal anomalies

Gene: RREB1

Amber List (moderate evidence)
RREB1 (ras responsive element binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000124782
EnsemblGeneIds (GRCh37): ENSG00000124782
OMIM: 602209, Gene2Phenotype
RREB1 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Natalie Chandler (North Thames GLH)

I don't know

Green in rasopahy panel UK panelapp. Green in Aus FA. 40418122 6 individuals with Noonan like phenotype & het truncating variants. 4 de novo, 1 paternal, 1 unknown. Two have another genetic dx (discounted from phenotype info). Case 1 hydronephrosis on USS, nil else; Case 2 poor grwoth 3rd trimester but 10th centile at birth, VSD, postnatal facial frontal bossing, wide nasal bridge. Case 5 inc NT, postnatal VSD, hypospadia, cryptorchidism, subtle facial dysmorphism, case 6 cleft, VSD, 3 years frontal bossing. Mouse mored cardiac hypertrophy and hypertelorism. Rasopathy but hydrops not reported so far. Subtle features prenatally. Amber?
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • RASopathy, MONDO:0021060
  • Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay
Tags
gene-checked
OMIM
602209
Clinvar variants
Variants in RREB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Mar 2026, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RREB1 were set to

20 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RREB1 were changed from Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay to RASopathy, MONDO:0021060; Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay

20 Mar 2026, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: RREB1.

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay for gene: RREB1

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: RREB1 was added gene: RREB1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted