Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: RBM28

Red List (low evidence)

RBM28 (RNA binding motif protein 28)
EnsemblGeneIds (GRCh38): ENSG00000106344
EnsemblGeneIds (GRCh37): ENSG00000106344
OMIM: 612074, Gene2Phenotype
RBM28 is in 3 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

To date only one large consanguineous family has been reproted with alopecia, neurologic defects, and endocrinopathy syndrome caused by a variant in RBM28, all had moderate to severe mental retardation (PMID: 20231366, 18439547)
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alopecia, neurologic defects, and endocrinopathy syndrome,612079; Intellectual disability

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME (ANES)

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alopecia, neurologic defects, and endocrinopathy syndrome,612079
  • Intellectual disability
OMIM
612074
Clinvar variants
Variants in RBM28
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene RBM28 was set to ['18439547', '20231366']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

RBM28 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene RBM28 was set to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RBM28 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen