Inclusion criteria • Non-congenital lower limb lymphoedema • Multiple affected individuals in the pedigree with family history consistent with autosomal dominant inheritance • Lymphoscintigram (where available) suggestive of deep rerouting with the presence of popliteal nodes Exclusion criteria • Congenital lymphoedema • Lymphoedema of any other segment (e.g. hands/arms/face/genitalia) • Systemic lymphoedema (e.g. intestinal or pulmonary lymphangiectasia, pleural or pericardial effusions) • No family history of lymphoedema • Syndromic lymphoedema including any major structural malformations • Distichiasis (aberrant eyelashes arising from the meibomian glands) Prior Genetic Testing: - Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype. - Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND - Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND - The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests: These requirements will be kept under continual review during the main programme and may be subject to change.
Pia Ostergaard (St George's)
Group: GeCIP domain
Workplace: Research lab
Richard Scott (Genomics England Curator)
Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
CCBE1 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
FAT4 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
FLT4 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
FOXC2 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
GATA2 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
GJA1 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
GJC2 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
IKBKG |
2 reviews |
X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
KIF11 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PIEZO1 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SOX18 |
3 reviews2 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
VEGFC |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
EPHB4 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
PTPN14 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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