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Lymphoedema_nonsyndromic v0.44 | MDFIC | Zornitza Stark Marked gene: MDFIC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.44 | MDFIC | Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.44 | MDFIC | Zornitza Stark Classified gene: MDFIC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.44 | MDFIC | Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.43 | MDFIC | Zornitza Stark Classified gene: MDFIC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.43 | MDFIC | Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.40 | MDFIC |
Krithika Murali gene: MDFIC was added gene: MDFIC was added to Lymphoedema_nonsyndromic. Sources: Literature Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDFIC were set to PMID: 35235341 Phenotypes for gene: MDFIC were set to Lymphatic malformation 12 - MIM#620014 Review for gene: MDFIC was set to GREEN Added comment: Biallelic LoF variants associated with central conducting lymphatic anomaly. Sources: Literature |
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Lymphoedema_nonsyndromic v0.40 | MDFIC |
Krithika Murali gene: MDFIC was added gene: MDFIC was added to Lymphoedema_nonsyndromic. Sources: Literature Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDFIC were set to PMID: 35235341 Phenotypes for gene: MDFIC were set to Lymphatic malformation 12 - MIM#620014 Review for gene: MDFIC was set to GREEN Added comment: Biallelic LoF variants associated with central conducting lymphatic anomaly. Sources: Literature |
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Lymphoedema_nonsyndromic v0.39 | HGF | Zornitza Stark Marked gene: HGF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.39 | HGF | Zornitza Stark Gene: hgf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.39 | HGF | Zornitza Stark Classified gene: HGF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.39 | HGF | Zornitza Stark Gene: hgf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.38 | HGF |
Zornitza Stark gene: HGF was added gene: HGF was added to Lymphoedema_nonsyndromic. Sources: Literature Mode of inheritance for gene: HGF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HGF were set to 38676400; 38791500 Phenotypes for gene: HGF were set to Lymphoedema, MONDO:0019297, HGF-related Review for gene: HGF was set to GREEN Added comment: More than 10 families reported with childhood- to late-onset lymphoedema. Sources: Literature |
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Lymphoedema_nonsyndromic v0.37 | TIE1 | Ain Roesley Publications for gene: TIE1 were set to 32947856; 24764452; 38820174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.36 | TIE1 | Ain Roesley Publications for gene: TIE1 were set to 32947856; 24764452; 38820174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.36 | TIE1 | Ain Roesley Publications for gene: TIE1 were set to 32947856; 24764452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.36 | TIE1 | Ain Roesley Classified gene: TIE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.36 | TIE1 | Ain Roesley Gene: tie1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.35 | TIE1 | Ain Roesley edited their review of gene: TIE1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.35 | TIE1 | Ain Roesley reviewed gene: TIE1: Rating: ; Mode of pathogenicity: None; Publications: 38820174; Phenotypes: Lymphatic malformation 11, MIM# 619401; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.35 | ERG | Zornitza Stark Phenotypes for gene: ERG were changed from primary lymphoedema MONDO#0019175, ERG-related to Lymphatic malformation 14, MIM# 620602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.34 | ERG | Zornitza Stark reviewed gene: ERG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 14, MIM# 620602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.34 | ARAP3 | Zornitza Stark Phenotypes for gene: ARAP3 were changed from Lymphoedema to Lymphoedema, MONDO:0019297, ARAP3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.33 | ARAP3 | Zornitza Stark edited their review of gene: ARAP3: Changed phenotypes: Lymphoedema, MONDO:0019297, ARAP3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.33 | ERG | Ain Roesley Classified gene: ERG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.33 | ERG | Ain Roesley Gene: erg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.33 | ERG | Ain Roesley Classified gene: ERG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.33 | ERG | Ain Roesley Gene: erg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.33 | ERG | Ain Roesley Classified gene: ERG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.33 | ERG | Ain Roesley Gene: erg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.33 | ERG | Ain Roesley Classified gene: ERG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.33 | ERG | Ain Roesley Gene: erg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.33 | ERG | Ain Roesley Classified gene: ERG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.33 | ERG | Ain Roesley Gene: erg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.32 | ERG | Ain Roesley Marked gene: ERG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.32 | ERG | Ain Roesley Gene: erg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.32 | ERG |
Ain Roesley gene: ERG was added gene: ERG was added to Lymphoedema_nonsyndromic. Sources: Literature Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ERG were set to 36928819 Phenotypes for gene: ERG were set to primary lymphoedema MONDO#0019175, ERG-related Penetrance for gene: ERG were set to unknown Review for gene: ERG was set to GREEN gene: ERG was marked as current diagnostic Added comment: 3 families with fs variants 2x NMD = 1x de novo + 1x mosaic father 1x protein truncating = 2 affected siblings with an unaffected father who wasn't sequenced 4th family with protein truncating variant but has other clinical features and lymphoedema was only identified upon chart review over expression of mutant cDNA demonstrated mislocalisation into the cytoplasm Sources: Literature |
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Lymphoedema_nonsyndromic v0.31 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.30 |
Zornitza Stark HPO terms changed from to Lymphedema, HP:0001004 List of related panels changed from to Lymphedema; HP:0001004 |
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Lymphoedema_nonsyndromic v0.29 | ANGPT2 | Zornitza Stark Phenotypes for gene: ANGPT2 were changed from Lymphatic malformation-10, MIM#619369; Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.28 | ANGPT2 | Zornitza Stark Publications for gene: ANGPT2 were set to 32908006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.27 | ANGPT2 | Zornitza Stark Mode of inheritance for gene: ANGPT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.26 | ANGPT2 | Zornitza Stark edited their review of gene: ANGPT2: Added comment: Bi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents.; Changed publications: 32908006, 34876502; Changed phenotypes: Lymphatic malformation-10, MIM#619369, Primary lymphoedema, Hydrops; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.26 | TIE1 | Zornitza Stark Marked gene: TIE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.26 | TIE1 | Zornitza Stark Gene: tie1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.26 | TIE1 | Zornitza Stark Classified gene: TIE1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.26 | TIE1 | Zornitza Stark Gene: tie1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.25 | TIE1 |
Zornitza Stark gene: TIE1 was added gene: TIE1 was added to Lymphoedema_nonsyndromic. 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. Sources: Literature |
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Lymphoedema_nonsyndromic v0.24 | ANGPT2 | Zornitza Stark Phenotypes for gene: ANGPT2 were changed from Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.23 | ANGPT2 | Zornitza Stark edited their review of gene: ANGPT2: Changed phenotypes: Lymphatic malformation-10, MIM#619369, Primary lymphoedema | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.23 | CELSR1 | Zornitza Stark Publications for gene: CELSR1 were set to 31215153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.22 | CELSR1 | Zornitza Stark commented on gene: CELSR1: 3 unrelated families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.22 | CELSR1 | Zornitza Stark edited their review of gene: CELSR1: Changed publications: 31215153, 31403174, 26855770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.22 | CELSR1 | Zornitza Stark Phenotypes for gene: CELSR1 were changed from lymphoedema to Lymphatic malformation 9, MIM# 619319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.21 | CELSR1 | Zornitza Stark reviewed gene: CELSR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 9, MIM# 619319; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.21 | ARAP3 | Zornitza Stark Marked gene: ARAP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.21 | ARAP3 | Zornitza Stark Gene: arap3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.21 | ARAP3 | Zornitza Stark Classified gene: ARAP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.21 | ARAP3 | Zornitza Stark Gene: arap3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.20 | ARAP3 |
Zornitza Stark gene: ARAP3 was added gene: ARAP3 was added to Lymphoedema_nonsyndromic. Sources: Literature Mode of inheritance for gene: ARAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARAP3 were set to 32908855 Phenotypes for gene: ARAP3 were set to Lymphoedema Review for gene: ARAP3 was set to AMBER Added comment: Three unrelated families reported with rare missense variants in this gene as part of a lymphoedema cohort. However, incomplete information regarding segregation and no supporting functional data. Sources: Literature |
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Lymphoedema_nonsyndromic v0.19 | RORC | Zornitza Stark Marked gene: RORC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.19 | RORC | Zornitza Stark Gene: rorc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.19 | RORC | Zornitza Stark Classified gene: RORC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.19 | RORC | Zornitza Stark Gene: rorc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.18 | RORC |
Zornitza Stark gene: RORC was added gene: RORC was added to Lymphoedema_nonsyndromic. Sources: Literature Mode of inheritance for gene: RORC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RORC were set to 32960152 Phenotypes for gene: RORC were set to Lymphoedema Review for gene: RORC was set to AMBER Added comment: Two individuals reported with LoF variants as part of a large cohort. Note gene is depleted for LoF in gnomad, and bi-allelic variants have been associated with immunodeficiency. Sources: Literature |
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Lymphoedema_nonsyndromic v0.17 | KIF11 | Zornitza Stark Marked gene: KIF11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.17 | KIF11 | Zornitza Stark Gene: kif11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.17 | KIF11 | Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.16 | KIF11 | Zornitza Stark Publications for gene: KIF11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.15 | KIF11 | Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.14 | KIF11 | Zornitza Stark Classified gene: KIF11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.14 | KIF11 | Zornitza Stark Gene: kif11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.13 | KIF11 | Zornitza Stark reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: None; Publications: 22284827, 25115524, 25124931, 27212378, 32730767, 31993640, 25996076; Phenotypes: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950, MONDO:0007918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.13 | VEGFC | Zornitza Stark Marked gene: VEGFC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.13 | VEGFC | Zornitza Stark Gene: vegfc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.13 | VEGFC | Zornitza Stark Phenotypes for gene: VEGFC were changed from to Lymphatic malformation 4, MIM#615907 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.12 | VEGFC | Zornitza Stark Publications for gene: VEGFC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.11 | VEGFC | Zornitza Stark Mode of inheritance for gene: VEGFC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.10 | VEGFC | Zornitza Stark reviewed gene: VEGFC: Rating: GREEN; Mode of pathogenicity: None; Publications: 23410910, 24744435, 30071673; Phenotypes: Lymphatic malformation 4, MIM#615907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.10 | ANGPT2 | Zornitza Stark Publications for gene: ANGPT2 were set to https://stm.sciencemag.org/content/12/560/eaax8013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.9 | ANGPT2 | Zornitza Stark edited their review of gene: ANGPT2: Changed publications: 32908006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.9 | ANGPT2 | Zornitza Stark Marked gene: ANGPT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.9 | ANGPT2 | Zornitza Stark Gene: angpt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.9 | ANGPT2 | Zornitza Stark Classified gene: ANGPT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.9 | ANGPT2 | Zornitza Stark Gene: angpt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.8 | ANGPT2 |
Zornitza Stark gene: ANGPT2 was added gene: ANGPT2 was added to Lymphoedema_nonsyndromic. Sources: Literature Mode of inheritance for gene: ANGPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANGPT2 were set to https://stm.sciencemag.org/content/12/560/eaax8013 Phenotypes for gene: ANGPT2 were set to Primary lymphoedema Review for gene: ANGPT2 was set to GREEN Added comment: Five unrelated individuals reported with primary lymphedema and variants in this gene, together with functional data. Sources: Literature |
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Lymphoedema_nonsyndromic v0.7 | ADAMTS3 | Zornitza Stark Marked gene: ADAMTS3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.7 | ADAMTS3 | Zornitza Stark Gene: adamts3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.7 | ADAMTS3 | Zornitza Stark Classified gene: ADAMTS3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.7 | ADAMTS3 | Zornitza Stark Gene: adamts3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v0.6 | Sue White Panel name changed from Lymphoedema to Lymphoedema_nonsyndromic | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.5 | CELSR1 | Zornitza Stark Marked gene: CELSR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.5 | CELSR1 | Zornitza Stark Gene: celsr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.5 | CELSR1 | Sue White Classified gene: CELSR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.5 | CELSR1 | Sue White Gene: celsr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.4 | CELSR1 |
Sue White gene: CELSR1 was added gene: CELSR1 was added to Lymphoedema. Sources: Literature Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CELSR1 were set to 31215153 Phenotypes for gene: CELSR1 were set to lymphoedema Penetrance for gene: CELSR1 were set to Incomplete Review for gene: CELSR1 was set to GREEN Added comment: nonsyndromic lymphoedema LOF variants Sources: Literature |
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Lymphoedema_nonsyndromic v0.3 | PTPN14 | Zornitza Stark Marked gene: PTPN14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.3 | PTPN14 | Zornitza Stark Gene: ptpn14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.3 | PTPN14 | Zornitza Stark Classified gene: PTPN14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.3 | PTPN14 | Zornitza Stark Gene: ptpn14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lymphoedema_nonsyndromic v0.2 | PTPN14 |
Bryony Thompson gene: PTPN14 was added gene: PTPN14 was added to Lymphoedema. Sources: Expert list Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN14 were set to 20826270; https://doi.org/10.1016/j.mgene.2017.07.006 Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema MIM#613611 Review for gene: PTPN14 was set to GREEN Added comment: Two unrelated consanguineous middle eastern families reported with choanal atresia and lymphedema, and different homozygous variants. The Ptpn14-/- mouse model manifects lymphatic hyperplasia with lymphedema. Sources: Expert list |
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Lymphoedema_nonsyndromic v0.1 |
Zornitza Stark Panel name changed from Lymphedema_VCGS to Lymphoedema Panel types changed to Victorian Clinical Genetics Services |
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Lymphoedema_nonsyndromic v0.0 | VEGFC |
Zornitza Stark gene: VEGFC was added gene: VEGFC was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VEGFC was set to Unknown |
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Lymphoedema_nonsyndromic v0.0 | SOX18 |
Zornitza Stark gene: SOX18 was added gene: SOX18 was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOX18 was set to Unknown |
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Lymphoedema_nonsyndromic v0.0 | PIEZO1 |
Zornitza Stark gene: PIEZO1 was added gene: PIEZO1 was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIEZO1 was set to Unknown |
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Lymphoedema_nonsyndromic v0.0 | KIF11 |
Zornitza Stark gene: KIF11 was added gene: KIF11 was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIF11 was set to Unknown |
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Lymphoedema_nonsyndromic v0.0 | IKBKG |
Zornitza Stark gene: IKBKG was added gene: IKBKG was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IKBKG was set to Unknown |
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Lymphoedema_nonsyndromic v0.0 | GJC2 |
Zornitza Stark gene: GJC2 was added gene: GJC2 was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJC2 was set to Unknown |
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Lymphoedema_nonsyndromic v0.0 | GJA1 |
Zornitza Stark gene: GJA1 was added gene: GJA1 was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJA1 was set to Unknown |
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Lymphoedema_nonsyndromic v0.0 | GATA2 |
Zornitza Stark gene: GATA2 was added gene: GATA2 was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GATA2 was set to Unknown |
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Lymphoedema_nonsyndromic v0.0 | FOXC2 |
Zornitza Stark gene: FOXC2 was added gene: FOXC2 was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXC2 was set to Unknown |
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Lymphoedema_nonsyndromic v0.0 | FLT4 |
Zornitza Stark gene: FLT4 was added gene: FLT4 was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FLT4 was set to Unknown |
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Lymphoedema_nonsyndromic v0.0 | FAT4 |
Zornitza Stark gene: FAT4 was added gene: FAT4 was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAT4 was set to Unknown |
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Lymphoedema_nonsyndromic v0.0 | EPHB4 |
Zornitza Stark gene: EPHB4 was added gene: EPHB4 was added to Lymphedema_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPHB4 was set to Unknown |
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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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Lymphoedema_nonsyndromic v0.0 | Zornitza Stark Added panel Lymphedema_VCGS |