Cytopenias and congenital anaemias
Gene: RHAG

RHAG (Rh associated glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000112077
EnsemblGeneIds (GRCh37): ENSG00000112077
OMIM: 180297, Gene2Phenotype
RHAG is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Evidence to support Overhydrated hereditary stomatocytosis (MIM:185000): PMID:2917122 (review of cases previously reported and one new case, 7 unrelated families in total); 21849667 (4 unrelated affecteds)
Evidence to support Anemia, hemolytic, Rh-null, regulator type (MIM:268150): PMID:9746795 (4 affecteds); 9454778 (1 affected); 9716608 (1 affected).
Created: 3 Mar 2017, 6:06 p.m.

Comment on list classification: Changed status fro Red to Green
Created: 3 Mar 2017, 6:06 p.m.

Comment on mode of inheritance: Changed MOI to reflect the differences in MOI for the observed phenotypes of the associated disorders.
Created: 3 Mar 2017, 5:02 p.m.

Created: 3 Mar 2017, 5:02 p.m.

Panel version: 0.351

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Stomatocytosis; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Anemia, hemolytic, Rh-null, regulator type, OMIM:268150 (AR)
Overhydrated hereditary stomatocytosis, OMIM:185000 (AD)

OMIM

180297

Clinvar variants

Variants in RHAG

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

11 Oct 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RHAG were changed from Stomatocytosis; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150 to Anemia, hemolytic, Rh-null, regulator type, OMIM:268150 (AR); Overhydrated hereditary stomatocytosis, OMIM:185000 (AD)

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

3 Mar 2017, Gel status: 4