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Primary lymphoedema v2.8 ADAMTS3 Arina Puzriakova Phenotypes for gene: ADAMTS3 were changed from Hennekam syndrome; Hennekam lymphangiectasia-lymphedema syndrome 3 to Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564
Primary lymphoedema v1.88 ADAMTS3 Sahar Mansour reviewed gene: ADAMTS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28985353, 30450763; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 3 618154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema v1.86 ADAMTS3 Sarah Leigh changed review comment from: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. Three variants in two cases, together with supportive functional studies (PMID 30450763).; to: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. At lease three variants in two cases, together with supportive functional studies (PMID 30450763).
Primary lymphoedema v1.86 ADAMTS3 Sarah Leigh Publications for gene: ADAMTS3 were set to 28985353; 28687807; 26446156
Primary lymphoedema v1.85 ADAMTS3 Sarah Leigh Tag watchlist was removed from gene: ADAMTS3.
Primary lymphoedema v1.85 ADAMTS3 Sarah Leigh Classified gene: ADAMTS3 as Green List (high evidence)
Primary lymphoedema v1.85 ADAMTS3 Sarah Leigh Added comment: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. Three variants in two cases, together with supportive functional studies (PMID 30450763).
Primary lymphoedema v1.85 ADAMTS3 Sarah Leigh Gene: adamts3 has been classified as Green List (High Evidence).
Primary lymphoedema v1.83 ADAMTS3 Sarah Leigh Source Expert list was added to ADAMTS3.
Primary lymphoedema v1.35 ADAMTS3 Ellen McDonagh reviewed gene: ADAMTS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary lymphoedema v1.34 ADAMTS3 Ellen McDonagh Source London South GLH was added to ADAMTS3.
Primary lymphoedema v1.29 ADAMTS3 Rebecca Foulger Tag watchlist tag was added to gene: ADAMTS3.
Primary lymphoedema v1.29 ADAMTS3 Rebecca Foulger Classified gene: ADAMTS3 as Amber List (moderate evidence)
Primary lymphoedema v1.29 ADAMTS3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber as agreed with Helen Brittain and Anna De Burca: Insufficient evidence for diagnostic grade but features on St. George's Primary Lymphedema Disorders gene panel. Note that Prof. Sahar Mansour (St. George's hospital) confirmed via email thread that they have not seen cases.
Primary lymphoedema v1.29 ADAMTS3 Rebecca Foulger Gene: adamts3 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v1.24 ADAMTS3 Rebecca Foulger Source UKGTN was added to ADAMTS3.
Primary lymphoedema v1.23 ADAMTS3 Rebecca Foulger Classified gene: ADAMTS3 as Red List (low evidence)
Primary lymphoedema v1.23 ADAMTS3 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red as currently insufficient cases for diagnostic grade (1 family in Brouillard et al. 2017).
Primary lymphoedema v1.23 ADAMTS3 Rebecca Foulger Gene: adamts3 has been classified as Red List (Low Evidence).
Primary lymphoedema v1.22 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3: Added to panel as requested by Athina Ververi (GOSH) based on presence of ADAMTS3 on the St. George's Primary Lymphedema Disorders 15 Gene Panel.
Primary lymphoedema v1.22 ADAMTS3 Rebecca Foulger Publications for gene: ADAMTS3 were set to 28985353; 28687807
Primary lymphoedema v1.21 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3: Mouse model for role of ADAMTS3 in lymphatic development is reported in PMID:26446156 (2016), with knockout mice exhibiting a massive lymphedema.
Primary lymphoedema v1.21 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3: PMID:28687807 (Jha et al., 2017) test a R565Q missense substitution in ADAMTS3 which was originally identified as a rare heterozygous polymoprhism in a lymphedema patient and in 6 unaffected members of the studied family as well as in 236 alleles in ExAC.
Primary lymphoedema v1.21 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3
Primary lymphoedema v1.21 ADAMTS3 Rebecca Foulger gene: ADAMTS3 was added
gene: ADAMTS3 was added to Lymphatic Disorders. Sources: Other
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS3 were set to 28985353; 28687807
Phenotypes for gene: ADAMTS3 were set to Hennekam syndrome; Hennekam lymphangiectasia-lymphedema syndrome 3