Segmental overgrowth disorders (Version: )

Relevant disorders: Regional overgrowth disorders, R110
Signed off date: 23 Jun 2022
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
10 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amosaicism
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amosaicism
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amosaicism
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/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A