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Intellectual disability syndromic and non-syndromic

Gene: RHOBTB2

Green List (high evidence)

RHOBTB2 (Rho related BTB domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000008853
EnsemblGeneIds (GRCh37): ENSG00000008853
OMIM: 607352, Gene2Phenotype
RHOBTB2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 37165955: 16 individuals with de novo heterozygous missense variants in the BTB domain region and a severe DEE as previously reported. In addition, 6 individuals with de novo missense variants in the GTPase domain and a more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences.
In addition, 9 families with observed bi-allelic splice-site and truncating variants with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well.
Created: 2 Jun 2023, 1:06 a.m. | Last Modified: 2 Jun 2023, 1:06 a.m.
Panel Version: 0.5244
13 individuals from unrelated families reported in the literature in 2018 with de novo variants in this gene and ID/EE.
Sources: Literature
Created: 9 Dec 2019, 7:15 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 64, MIM#618004

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 64, MIM#618004
OMIM
607352
Clinvar variants
Variants in RHOBTB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RHOBTB2 were set to 29768694; 29276004

2 Jun 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RHOBTB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rhobtb2 has been classified as Green List (High Evidence).

9 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rhobtb2 has been classified as Green List (High Evidence).

9 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RHOBTB2 was added gene: RHOBTB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHOBTB2 were set to 29768694; 29276004 Phenotypes for gene: RHOBTB2 were set to Epileptic encephalopathy, early infantile, 64, MIM#618004 Review for gene: RHOBTB2 was set to GREEN