Hereditary Erythrocytosis (Version: )

Relevant disorders: R405
Signed off date: 30 Sept 2020
Panel types: Rare Disease 100K, GMS Rare Disease, GMS signed-off
8 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-therapy-trial
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A