Cytopenias and congenital anaemias
Gene: RHAGComment 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 GreenCreated: 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.
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
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)
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for RHAG were set to 3920829;21849667;8563755;2917122;21849667;9746795; 9454778;9716608
Mode of inheritance for RHAG was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
RHAG was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list
RHAG was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
RHAG was created by LouiseD