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Rasopathy

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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID 38332451: de novo LoF variant in an individual with phenotype consistent with the previous reports.
Created: 7 Mar 2024, 12:16 a.m. | Last Modified: 7 Mar 2024, 12:16 a.m.
Panel Version: 0.99
Single individual reported with Noonan syndrome-like features and a deletion encompassing RREB1. Overlapping deletions in publicly reported databases examined, and RREB1 postulated to be the key gene. Rreb1 hemizygous mice display orbital hypertelorism and age dependent cardiac hypertrophy. RREB1 recruits SIN3A and KDM1A to an RRE in target promoters in human and murine cells to control histone H3K4 methylation of MAPK pathway genes. In summary, single well phenotyped individual with a CNV and experimental data to support gene-disease association.
Sources: Literature
Created: 19 Sep 2020, 1:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rasopathy, MONDO:0021060, RREB1-related

Publications

Created: 19 Sep 2020, 1:21 a.m.

Panel version: 0.99

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Rasopathy, MONDO:0021060, RREB1-related
Tags
SV/CNV
OMIM
602209
Clinvar variants
Variants in RREB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RREB1 were changed from Noonan syndrome-like disorder to Rasopathy, MONDO:0021060, RREB1-related

7 Mar 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RREB1 were set to 32938917

7 Mar 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rreb1 has been classified as Amber List (Moderate Evidence).

19 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rreb1 has been classified as Red List (Low Evidence).

19 Sep 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: RREB1.

19 Sep 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: RREB1 was added gene: RREB1 was added to Rasopathy. Sources: Literature Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RREB1 were set to 32938917 Phenotypes for gene: RREB1 were set to Noonan syndrome-like disorder Review for gene: RREB1 was set to RED