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Cytopenias and congenital anaemias

Gene: RHAG

Green List (high evidence)

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.

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stomatocytosis
  • Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000
  • Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150
OMIM
180297
Clinvar variants
Variants in RHAG
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for RHAG were set to 3920829;21849667;8563755;2917122;21849667;9746795; 9454778;9716608

3 Mar 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for RHAG was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 Mar 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RHAG were set to Stomatocytosis; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150

3 Mar 2017, Gel status: 1

Upload gene information

Louise Daugherty (Genomics England Curator)

RHAG was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

RHAG was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

RHAG was created by LouiseD