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Primary lymphoedema v4.20 TIE1 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: TIE1.
Primary lymphoedema v4.20 TIE1 Ida Ertmanska reviewed gene: TIE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary lymphoedema v4.19 TIE1 Ida Ertmanska Source NHS GMS was added to TIE1.
Source Expert Review Green was added to TIE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary lymphoedema v4.3 TIE1 Arina Puzriakova Classified gene: TIE1 as Amber List (moderate evidence)
Primary lymphoedema v4.3 TIE1 Arina Puzriakova Added comment: Comment on list classification: At least 6 families have been reported in literature with heterozygous variants in this gene and lymphedema which support inclusion on this panel with a Green rating at the next GMS panel update.
Primary lymphoedema v4.3 TIE1 Arina Puzriakova Gene: tie1 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v4.2 TIE1 Arina Puzriakova Tag watchlist was removed from gene: TIE1.
Tag Q2_25_ promote_green tag was added to gene: TIE1.
Primary lymphoedema v4.2 TIE1 Arina Puzriakova commented on gene: TIE1
Primary lymphoedema v4.2 TIE1 Arina Puzriakova Publications for gene: TIE1 were set to 32947856; 24764452
Primary lymphoedema v3.11 TIE1 Miel Theunis reviewed gene: TIE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38820174; Phenotypes: lymphatic malformation-11 (LMPHM11, OMIM # 619401); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary lymphoedema v2.15 TIE1 Ivone Leong Tag watchlist tag was added to gene: TIE1.
Primary lymphoedema v2.15 TIE1 Ivone Leong Classified gene: TIE1 as Amber List (moderate evidence)
Primary lymphoedema v2.15 TIE1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. Based on the expert review this gene has been given an Amber rating until more evidence is available.
Primary lymphoedema v2.15 TIE1 Ivone Leong Gene: tie1 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v2.14 TIE1 Ivone Leong Phenotypes for gene: TIE1 were changed from Lymphatic malformation 11, MIM# 619401 to Lymphatic malformation 11, OMIM:619401
Primary lymphoedema v2.13 TIE1 Zornitza Stark gene: TIE1 was added
gene: TIE1 was added to Primary lymphoedema. Sources: Literature
Mode of inheritance for gene: TIE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TIE1 were set to 32947856; 24764452
Phenotypes for gene: TIE1 were set to Lymphatic malformation 11, MIM# 619401
Review for gene: TIE1 was set to AMBER
Added comment: Three families reported, supportive animal model, though variants are missense and present at a low frequency in gnomad, hence Amber rating suggested.
Sources: Literature