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  3. RBM28
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Pituitary hormone deficiency

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

1 review

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Red List (low evidence)

Homozygous missense change identified in 5 consanguinous siblings with CPHD as part of alopecia, neurological defects, and endocrinopathy (ANE) syndrome.
Created: 28 Jan 2019, 8:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ANE syndrome

Publications

Created: 28 Jan 2019, 8:55 a.m.

Panel version: 0.68

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center
Phenotypes
  • ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
  • ANE syndrome
OMIM
612074
Clinvar variants
Variants in RBM28
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Martina Owens: Homozygous missense change ide

29 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

29 Jan 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RBM28 were set to

7 Dec 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: RBM28 was added gene: RBM28 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM28 were set to ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079)