Incidentalome
Gene: RBM12
RBM12 (RNA binding motif protein 12)
EnsemblGeneIds (GRCh38): ENSG00000244462
EnsemblGeneIds (GRCh37): ENSG00000244462
OMIM: 607179, Gene2Phenotype
RBM12 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000244462
EnsemblGeneIds (GRCh37): ENSG00000244462
OMIM: 607179, Gene2Phenotype
RBM12 is in 1 panel
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Only reported in the Icelandic and Finnish population.
PMID: 28628109 – individuals from 2 unrelated families carrying the same heterozygous truncating variant (G793X)
PMID: 36711667 (this article is not yet published/peer reviewed) – reported that mutation be a risk factor towards schizophrenia however there is no evidence showing the functional effect of the protein.Created: 31 Mar 2023, 2:37 a.m. | Last Modified: 31 Mar 2023, 2:37 a.m.
Panel Version: 0.229
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Schizophrenia 19 (MIM#617629)
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- OMIM
- 607179
- Clinvar variants
- Variants in RBM12
- Penetrance
- None
- Panels with this gene
History Filter Activity
3 Dec 2024, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rbm12 has been classified as Amber List (Moderate Evidence).
3 Dec 2024, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rbm12 has been classified as Amber List (Moderate Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RBM12 was added gene: RBM12 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RBM12 was set to Unknown