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| Primary lymphoedema v2.24 | ANGPT2 | Ivone Leong Tag for-review was removed from gene: ANGPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.24 | ANGPT2 | Ivone Leong commented on gene: ANGPT2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.23 | ANGPT2 | Sarah Leigh edited their review of gene: ANGPT2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.23 | ANGPT2 | Sarah Leigh edited their review of gene: ANGPT2: Added comment: PMID 34876502 reports four fetuses with hydrops fetalis were homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguiseious 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 rating: GREEN; Changed publications to: 34876502; Changed phenotypes to: severe early-onset non-immune hydrops fetalis; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.23 | ANGPT2 | Sarah Leigh Publications for gene: ANGPT2 were set to 32908006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.22 | ANGPT2 | Sarah Leigh Added comment: Comment on phenotypes: Biallelic variants reported in severe early-onset non-immune hydrops fetalis (PMID 34876502). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.22 | ANGPT2 | Sarah Leigh Phenotypes for gene: ANGPT2 were changed from Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.21 | ANGPT2 | Sarah Leigh Phenotypes for gene: ANGPT2 were changed from Primary lymphoedema to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.6 | ANGPT2 | Ivone Leong Tag for-review tag was added to gene: ANGPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.6 | ANGPT2 | Ivone Leong Classified gene: ANGPT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.6 | ANGPT2 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence for this gene to be rated Green, which will occur at the next major review/update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.6 | ANGPT2 | Ivone Leong Gene: angpt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v2.4 | ANGPT2 |
Zornitza Stark gene: ANGPT2 was added gene: ANGPT2 was added to Primary lymphoedema. Sources: Literature Mode of inheritance for gene: ANGPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANGPT2 were set to 32908006 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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