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  3. RBM28
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Pituitary hormone deficiency

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

Two families reported, some supportive functional data in yeast.
Created: 11 May 2022, 11:53 p.m. | Last Modified: 11 May 2022, 11:53 p.m.
Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 11 May 2022, 11:53 p.m.
Last Modified: 11 May 2022, 11:53 p.m.
Panel version: 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • ANE syndrome
  • Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
OMIM
612074
Clinvar variants
Variants in RBM28
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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).

11 May 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RBM28 were changed from ANE syndrome; ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079) to ANE syndrome; Alopecia, neurologic defects, and endocrinopathy syndrome (612079)

11 May 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBM28 were set to 20231366

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).

13 Jul 2020, Gel status: 1

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: RBM28 was added gene: RBM28 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBM28 were set to 20231366 Phenotypes for gene: RBM28 were set to ANE syndrome; ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079)