{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1749","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1747","results":[{"created":"2020-07-02T20:32:07.877181+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arsb has been classified as Green List (High Evidence).","entity_name":"ARSB","entity_type":"gene"},{"created":"2020-07-02T20:32:00.217347+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARSB as Green List (high evidence)","entity_name":"ARSB","entity_type":"gene"},{"created":"2020-07-02T20:32:00.204701+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arsb has been classified as Green List (High Evidence).","entity_name":"ARSB","entity_type":"gene"},{"created":"2020-07-02T20:31:31.884986+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARSB was added\ngene: ARSB was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSB were set to Mucopolysaccharidosis VI (MPS6, MIM# 253200\nReview for gene: ARSB was set to GREEN\nAdded comment: Synostosis of at least one suture was present in 77% of 47 MPS cases (types I,II,VI, VII). >3 cases with IDUA, IDS, ARSB variants. \nSources: Expert list","entity_name":"ARSB","entity_type":"gene"},{"created":"2020-07-02T20:27:45.417203+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2, MIM# 614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-07-02T20:24:51.945802+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-07-02T18:08:25.779961+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACVRL1 as ready","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2020-07-02T18:08:25.769787+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvrl1 has been classified as Green List (High Evidence).","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2020-07-02T18:08:22.394676+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACVRL1 as Green List (high evidence)","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2020-07-02T18:08:22.378583+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvrl1 has been classified as Green List (High Evidence).","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2020-07-02T18:08:04.186627+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKT3 as ready","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-07-02T18:08:04.158543+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt3 has been classified as Green List (High Evidence).","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-07-02T18:07:59.623895+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AKT3 as Green List (high evidence)","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-07-02T18:07:59.614689+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt3 has been classified as Green List (High Evidence).","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-07-02T16:59:34.176626+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RRM2B as ready","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-07-02T16:59:34.160755+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rrm2b has been classified as Green List (High Evidence).","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-07-02T16:59:18.301214+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: RRM2B: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-07-02T16:59:05.152600+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: RRM2B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-07-02T16:58:52.891958+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RRM2B as Green List (high evidence)","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-07-02T16:58:52.882329+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rrm2b has been classified as Green List (High Evidence).","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-07-02T16:58:44.525759+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RRM2B was added\ngene: RRM2B was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RRM2B were set to 19667227; 23107649\nPhenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MIM#613077\nReview for gene: RRM2B was set to GREEN\nAdded comment: Gastrointestinal disturbances have been reported in 6/31 cases with adult onset cases with biallelic and monoallelic variants. \nSources: Expert list","entity_name":"RRM2B","entity_type":"gene"},{"created":"2020-07-02T16:00:08.891329+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ENG as ready","entity_name":"ENG","entity_type":"gene"},{"created":"2020-07-02T16:00:08.879383+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eng has been classified as Green List (High Evidence).","entity_name":"ENG","entity_type":"gene"},{"created":"2020-07-02T16:00:05.525540+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ENG as Green List (high evidence)","entity_name":"ENG","entity_type":"gene"},{"created":"2020-07-02T16:00:05.514764+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eng has been classified as Green List (High Evidence).","entity_name":"ENG","entity_type":"gene"},{"created":"2020-07-02T15:59:38.556265+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLMN as ready","entity_name":"GLMN","entity_type":"gene"},{"created":"2020-07-02T15:59:38.523469+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glmn has been classified as Green List (High Evidence).","entity_name":"GLMN","entity_type":"gene"},{"created":"2020-07-02T15:59:34.245477+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLMN as Green List (high evidence)","entity_name":"GLMN","entity_type":"gene"},{"created":"2020-07-02T15:59:34.232182+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glmn has been classified as Green List (High Evidence).","entity_name":"GLMN","entity_type":"gene"},{"created":"2020-07-02T15:59:09.725101+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RASA1 as ready","entity_name":"RASA1","entity_type":"gene"},{"created":"2020-07-02T15:59:09.713451+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rasa1 has been classified as Green List (High Evidence).","entity_name":"RASA1","entity_type":"gene"},{"created":"2020-07-02T15:59:06.171508+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RASA1 as Green List (high evidence)","entity_name":"RASA1","entity_type":"gene"},{"created":"2020-07-02T15:59:06.161316+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rasa1 has been classified as Green List (High Evidence).","entity_name":"RASA1","entity_type":"gene"},{"created":"2020-07-02T15:58:29.074091+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TEK as ready","entity_name":"TEK","entity_type":"gene"},{"created":"2020-07-02T15:58:29.057014+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tek has been classified as Green List (High Evidence).","entity_name":"TEK","entity_type":"gene"},{"created":"2020-07-02T15:58:12.262546+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TEK as Green List (high evidence)","entity_name":"TEK","entity_type":"gene"},{"created":"2020-07-02T15:58:12.249747+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tek has been classified as Green List (High Evidence).","entity_name":"TEK","entity_type":"gene"},{"created":"2020-07-02T15:52:54.007186+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAMBP as ready","entity_name":"STAMBP","entity_type":"gene"},{"created":"2020-07-02T15:52:53.992394+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stambp has been classified as Green List (High Evidence).","entity_name":"STAMBP","entity_type":"gene"},{"created":"2020-07-02T15:52:49.711626+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAMBP were changed from Microcephaly-capillary malformation syndrome to Microcephaly-capillary malformation syndrome, MIM# 614261","entity_name":"STAMBP","entity_type":"gene"},{"created":"2020-07-02T15:52:40.885642+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAMBP were set to ","entity_name":"STAMBP","entity_type":"gene"},{"created":"2020-07-02T15:52:28.949332+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAMBP","entity_type":"gene"},{"created":"2020-07-02T15:51:00.998188+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOX18 as ready","entity_name":"SOX18","entity_type":"gene"},{"created":"2020-07-02T15:51:00.987844+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox18 has been classified as Green List (High Evidence).","entity_name":"SOX18","entity_type":"gene"},{"created":"2020-07-02T15:50:56.942223+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SOX18 as Green List (high evidence)","entity_name":"SOX18","entity_type":"gene"},{"created":"2020-07-02T15:50:56.929595+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox18 has been classified as Green List (High Evidence).","entity_name":"SOX18","entity_type":"gene"},{"created":"2020-07-02T15:50:48.444420+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOX18 was added\ngene: SOX18 was added to Vascular Malformations_Germline. Sources: Expert list\nMode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SOX18 were set to 12740761; 24697860; 2484451; 26148450\nPhenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM#\t607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM#\t137940\nReview for gene: SOX18 was set to GREEN\nAdded comment: Both mono allelic and bi-allelic variants reported. \nSources: Expert list","entity_name":"SOX18","entity_type":"gene"},{"created":"2020-07-02T15:42:58.816766+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDCD10 as ready","entity_name":"PDCD10","entity_type":"gene"},{"created":"2020-07-02T15:42:58.805115+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd10 has been classified as Amber List (Moderate Evidence).","entity_name":"PDCD10","entity_type":"gene"},{"created":"2020-07-02T15:42:54.410454+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDCD10 as Amber List (moderate evidence)","entity_name":"PDCD10","entity_type":"gene"},{"created":"2020-07-02T15:42:54.398114+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd10 has been classified as Amber List (Moderate Evidence).","entity_name":"PDCD10","entity_type":"gene"},{"created":"2020-07-02T15:42:46.233932+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDCD10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations 3, MIM# 603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDCD10","entity_type":"gene"},{"created":"2020-07-02T15:40:01.414707+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF2 as ready","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:40:01.393539+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf2 has been classified as Red List (Low Evidence).","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:39:58.987699+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDF2 were changed from  to Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:39:51.671977+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GDF2 were set to ","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:39:43.250177+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDF2 as Red List (low evidence)","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:39:43.237411+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf2 has been classified as Red List (Low Evidence).","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:39:34.187496+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GDF2: Rating: RED; Mode of pathogenicity: None; Publications: 23972370; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:38:08.513113+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDF2 as Red List (low evidence)","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:38:08.498787+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf2 has been classified as Red List (Low Evidence).","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:21:21.470991+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GDF2: Changed rating: RED","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:20:31.295892+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF2 as ready","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:20:31.286326+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf2 has been classified as Amber List (Moderate Evidence).","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:20:29.165953+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GDF2 were set to ","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:20:19.989268+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDF2 as Amber List (moderate evidence)","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:20:19.974389+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf2 has been classified as Amber List (Moderate Evidence).","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T15:20:11.487924+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23972370; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-07-02T13:08:16.974137+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCM2 as ready","entity_name":"CCM2","entity_type":"gene"},{"created":"2020-07-02T13:08:16.959972+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccm2 has been classified as Amber List (Moderate Evidence).","entity_name":"CCM2","entity_type":"gene"},{"created":"2020-07-02T13:08:14.795889+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCM2 were changed from Cerebral cavernous malformations to Cerebral cavernous malformations-2, MIM# 603284","entity_name":"CCM2","entity_type":"gene"},{"created":"2020-07-02T13:08:03.799117+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CCM2 were set to ","entity_name":"CCM2","entity_type":"gene"},{"created":"2020-07-02T13:07:54.336671+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCM2 as Amber List (moderate evidence)","entity_name":"CCM2","entity_type":"gene"},{"created":"2020-07-02T13:07:54.327591+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccm2 has been classified as Amber List (Moderate Evidence).","entity_name":"CCM2","entity_type":"gene"},{"created":"2020-07-02T13:07:49.262607+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CCM2.","entity_name":"CCM2","entity_type":"gene"},{"created":"2020-07-02T13:07:29.223779+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CCM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21543988, 14624391; Phenotypes: Cerebral cavernous malformations-2, MIM# 603284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CCM2","entity_type":"gene"},{"created":"2020-07-02T12:28:11.990299+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATR as ready","entity_name":"ATR","entity_type":"gene"},{"created":"2020-07-02T12:28:11.972679+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atr has been classified as Red List (Low Evidence).","entity_name":"ATR","entity_type":"gene"},{"created":"2020-07-02T12:25:29.035913+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: OPA1 as ready","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-07-02T12:25:29.021387+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: opa1 has been classified as Red List (Low Evidence).","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-07-02T12:25:11.297942+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"gene: OPA1 was added\ngene: OPA1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OPA1 were set to 30395865\nPhenotypes for gene: OPA1 were set to gastrointestinal pseudo-obstruction\nReview for gene: OPA1 was set to RED\nAdded comment: Cannot find evidence that gastrointestinal pseudo-obstruction or dysmotility have been reported in association with this gene. There is a single report of an OPA1 heterozygous variant in a case with suggestive MNGIE, but there were no obvious gastrointestinal features identified. \nSources: Expert list","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-07-02T12:20:24.837713+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.18","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20463092,18596921; Phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia (612702); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGF8","entity_type":"gene"},{"created":"2020-07-02T12:12:21.702835+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Visceral Myopathy to Gastrointestinal neuromuscular disease","entity_name":null,"entity_type":null},{"created":"2020-07-02T12:09:35.837340+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATR was added\ngene: ATR was added to Vascular Malformations_Germline. Sources: Expert list\nMode of inheritance for gene: ATR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATR were set to 22341969\nPhenotypes for gene: ATR were set to Cutaneous telangiectasia and cancer syndrome, familial, MIM#\t614564\nReview for gene: ATR was set to RED\nAdded comment: Single multigenerational family reported. \nSources: Expert list","entity_name":"ATR","entity_type":"gene"},{"created":"2020-07-02T12:06:03.292442+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATM as ready","entity_name":"ATM","entity_type":"gene"},{"created":"2020-07-02T12:06:03.279841+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atm has been classified as Green List (High Evidence).","entity_name":"ATM","entity_type":"gene"},{"created":"2020-07-02T12:05:59.220234+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATM as Green List (high evidence)","entity_name":"ATM","entity_type":"gene"},{"created":"2020-07-02T12:05:59.209946+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atm has been classified as Green List (High Evidence).","entity_name":"ATM","entity_type":"gene"},{"created":"2020-07-02T12:05:51.625758+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATM was added\ngene: ATM was added to Vascular Malformations_Germline. Sources: Expert list\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to Ataxia-telangiectasia, MIM#\t208900\nReview for gene: ATM was set to GREEN\nAdded comment: Cutaneous telangiectasia are a feature of this disorder. \nSources: Expert list","entity_name":"ATM","entity_type":"gene"},{"created":"2020-07-02T10:37:04.139913+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.9","user_name":"Chris Richmond","item_type":"entity","text":"gene: TEK was added\ngene: TEK was added to Vascular Malformations_Somatic. Sources: Expert Review\nMode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TEK were set to 27519652\nPhenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal (600195); Blue rubber bleb naevus syndrome; Sporadic multifocal vascular malformations\nPenetrance for gene: TEK were set to unknown\nMode of pathogenicity for gene: TEK was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: TEK was set to GREEN\nAdded comment: Gain of function. Germline:\r\n\r\nSomatic: Blue Rubber Bleb Naevus Syndrome\r\nPMID 27519652: \"Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations\" group studied tissue from 17 individuals with blue rubber bleb nevus and six individuals with sporadic multifocal vascular malformations. They found that most (13 of 15) individuals with blue rubber bleb nevus had tissue double mutations (i.e., two somatic TEK mutations); 10 of these double mutations were in cis, and in the other tissues the allelism could not be determined. Double and cis mutations were present in most sporadic multifocal vascular malformations as well. \nSources: Expert Review","entity_name":"TEK","entity_type":"gene"},{"created":"2020-07-02T10:31:04.585930+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.9","user_name":"Chris Richmond","item_type":"entity","text":"gene: RASA1 was added\ngene: RASA1 was added to Vascular Malformations_Somatic. Sources: Expert Review\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RASA1 were set to 31300548; 30635911\nPhenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1 (608354)\nPenetrance for gene: RASA1 were set to Incomplete\nReview for gene: RASA1 was set to GREEN\nAdded comment: PMID: 31300548: \"Four distinct mosaic RASA1 mutations, with an allele frequency ranging from 3% to 25%, were identified in four index patients with classical capillary malformation-arteriovenous malformation phenotype. Three mutations were known, one was novel. In one patient, a somatic second hit was also identified. One index case had three affected children, illustrating that the mosaicism was also present in the germline.\"\r\n\r\nPMID 30635911: \"Both patients showed different nonsense RASA1 variants in mosaic, ranging from 7% to 21.5%, in blood samples and in the corresponding affected tissue sample from one of the patients. In conclusion, we report for the first time the presence of RASA1 constitutional mosaicism in CM-AVM. \" \nSources: Expert Review","entity_name":"RASA1","entity_type":"gene"},{"created":"2020-07-02T10:21:26.365596+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.9","user_name":"Chris Richmond","item_type":"entity","text":"gene: GLMN was added\ngene: GLMN was added to Vascular Malformations_Somatic. Sources: Expert Review\nMode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLMN were set to 11845407\nPhenotypes for gene: GLMN were set to Glomuvenous malformations (138000)\nPenetrance for gene: GLMN were set to unknown\nReview for gene: GLMN was set to GREEN\nAdded comment: Loss of function. Likely requires second hit for development of GVM: eg germline with second somatic hit (11845407) \nSources: Expert Review","entity_name":"GLMN","entity_type":"gene"},{"created":"2020-07-02T10:17:58.247468+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.9","user_name":"Chris Richmond","item_type":"entity","text":"reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 22500628, 22729223; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-07-02T10:16:17.840288+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.9","user_name":"Chris Richmond","item_type":"entity","text":"Deleted their review","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-07-02T10:14:07.388056+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.9","user_name":"Chris Richmond","item_type":"entity","text":"gene: AKT3 was added\ngene: AKT3 was added to Vascular Malformations_Somatic. Sources: Expert Review\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2\nPhenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937)\nPenetrance for gene: AKT3 were set to unknown\nMode of pathogenicity for gene: AKT3 was set to Other\nReview for gene: AKT3 was set to GREEN\ngene: AKT3 was marked as current diagnostic\nAdded comment: Gain of function. \"De Novo Somatic Mutations in Components of the PI3K-AKT3-mTOR Pathway Cause Hemimegalencephaly\" (PMID 22729223) \nSources: Expert Review","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-07-02T10:05:01.005160+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.9","user_name":"Chris Richmond","item_type":"entity","text":"gene: ACVRL1 was added\ngene: ACVRL1 was added to Vascular Malformations_Somatic. Sources: Expert Review\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACVRL1 were set to 21378382\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 (600376)\nPenetrance for gene: ACVRL1 were set to unknown\nReview for gene: ACVRL1 was set to GREEN\ngene: ACVRL1 was marked as current diagnostic\nAdded comment: Primarily germline, but mosaic cases reported \nSources: Expert Review","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2020-07-02T10:03:57.031387+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.9","user_name":"Chris Richmond","item_type":"entity","text":"gene: ENG was added\ngene: ENG was added to Vascular Malformations_Somatic. Sources: Expert Review\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ENG were set to 21378382\nPhenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 2 (600376)\nPenetrance for gene: ENG were set to unknown\nReview for gene: ENG was set to GREEN\nAdded comment: Primarily germline, but mosaic cases reported (21378382) \nSources: Expert Review","entity_name":"ENG","entity_type":"gene"},{"created":"2020-07-02T09:33:30.377219+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Comment on list classification: Vascular malformations are not a prominent feature of the condition caused by germline variants in this gene. Somatic activating mutations are possibly associated with vascular malformations, thus this gene is not suitable for a germline testing panel.; to: Comment on list classification: Vascular malformations are not a prominent feature of the condition caused by germline variants in this gene. Somatic activating mutations are possibly associated with vascular malformations.","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-07-02T09:32:45.286725+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"NRAS","entity_type":"gene"},{"created":"2020-07-02T09:32:35.425487+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"MAP3K3","entity_type":"gene"}]}