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| Lymphoedema_nonsyndromic v0.6 | ADAMTS3 |
Chris Richmond gene: ADAMTS3 was added gene: ADAMTS3 was added to Lymphoedema_nonsyndromic. Sources: Expert Review Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS3 were set to 28985353, 30450763 Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3 (618154) Review for gene: ADAMTS3 was set to GREEN Added comment: Note also in UK PanelApp nonsyndromic lymphedema list. Two papers, independent families. 30450763 paper supplies functional evidence.Should potentially add to syndromic lymphedema list also as dysmorphism reported. 28985353: in vitro and murine data that suggest a close functional interaction between ADAMTS3 and CCBE1 (an established lymphedema gene) Sources: Expert Review |
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| Lymphoedema_nonsyndromic v0.0 | CCBE1 |
Zornitza Stark gene: CCBE1 was added gene: CCBE1 was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCBE1 was set to Unknown |
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