Primary lymphoedema (Version: )

Relevant disorders: Lymphatic Disorders, Meiges disease, Meige disease, Milroy disease, Lymphoedema distichiasis, Lipoedema disease, R136
Signed off date: 2 Mar 2020
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
40 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/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, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/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
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/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, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/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, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A