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  3. RHCE
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Red cell disorders

Gene: RHCE

Green List (high evidence)
RHCE (Rh blood group CcEe antigens)
EnsemblGeneIds (GRCh38): ENSG00000188672
EnsemblGeneIds (GRCh37): ENSG00000188672
OMIM: 111700, Gene2Phenotype
RHCE is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Clinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Multiple families reported.
Sources: Expert list
Created: 12 May 2022, 11:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rh-null disease, amorph type, MIM# 617970

Publications

Created: 12 May 2022, 11:28 p.m.

Panel version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Rh-null disease, amorph type, MIM# 617970
OMIM
111700
Clinvar variants
Variants in RHCE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rhce has been classified as Green List (High Evidence).

12 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rhce has been classified as Green List (High Evidence).

12 May 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RHCE was added gene: RHCE was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: RHCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RHCE were set to 9657766; 16271106; 25413218 Phenotypes for gene: RHCE were set to Rh-null disease, amorph type, MIM# 617970 Review for gene: RHCE was set to GREEN