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Intellectual disability syndromic and non-syndromic

Gene: RBM28

Amber List (moderate evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID 33941690: second family reported, yeast functional studies.
Created: 11 May 2022, 11:51 p.m. | Last Modified: 11 May 2022, 11:51 p.m.
Panel Version: 0.4763
Single family reported in 2008, variants identified via homozygosity mapping and candidate gene approach
Created: 9 Dec 2019, 11:15 a.m. | Last Modified: 9 Dec 2019, 11:15 a.m.
Panel Version: 0.1054

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079
OMIM
612074
Clinvar variants
Variants in RBM28
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBM28 were set to 18439547

11 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbm28 has been classified as Amber List (Moderate Evidence).

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbm28 has been classified as Red List (Low Evidence).

9 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RBM28 were changed from to Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079

9 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBM28 were set to

9 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RBM28 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbm28 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBM28 was added gene: RBM28 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBM28 was set to Unknown