{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=214","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=212","results":[{"created":"2025-06-06T09:38:44.560959+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.3","user_name":"Peter McNaughton","item_type":"entity","text":"gene: PTPN1 was added\ngene: PTPN1 was added to Autoinflammatory Disorders. Sources: Literature\nMode of inheritance for gene: PTPN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN1 were set to PMID: 39986310\nPhenotypes for gene: PTPN1 were set to Autoinflammatory encephalopathy\nPenetrance for gene: PTPN1 were set to Incomplete\nReview for gene: PTPN1 was set to GREEN\nAdded comment: 12 patients from 11 families with phenotype characterised by subacute loss of skills following initially normal development, spastic dystonia, bulbar involvement, preserved head circumference, and an absence of seizures. The observation of enhanced type 1 IFN signalling in patient blood and CSF, and of increased levels of CSF neopterin suggests that PTPN1 haploinsufficiency can be classified as a novel type 1 interferonopathy. Features apparently distinguishing PTP1B-related encephalopathy from Aicardi-Goutières syndrome are a later age at onset (nine of 12 cases in cohort presenting beyond 18 months of age), notable bulbar involvement manifesting as difficulties with swallowing and expressive speech, and cerebral atrophy as the predominant neuroradiological sign. \nSources: Literature","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-06T01:29:32.569846+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.161","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NKAP was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NKAP","entity_type":"gene"},{"created":"2025-06-06T01:28:53.854751+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2630","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NKAP was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NKAP","entity_type":"gene"},{"created":"2025-06-05T21:50:04.246391+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2629","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PTPRB as ready","entity_name":"PTPRB","entity_type":"gene"},{"created":"2025-06-05T21:50:04.238999+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2629","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ptprb has been classified as Red List (Low Evidence).","entity_name":"PTPRB","entity_type":"gene"},{"created":"2025-06-05T21:49:56.495917+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2629","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PTPRB was added\ngene: PTPRB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PTPRB was set to Unknown\nPublications for gene: PTPRB were set to 40319023\nPhenotypes for gene: PTPRB were set to central serous chorioretinopathy; varicose veins; glaucoma\nReview for gene: PTPRB was set to RED\nAdded comment: A single risk allele (rs113791087 - missense) associated with the risk of central serous chorioretinopathy, varicose veins and glaucoma (reduced risk). Not associated with Mendelian disease. \nSources: Literature","entity_name":"PTPRB","entity_type":"gene"},{"created":"2025-06-05T21:10:32.932417+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.118","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: OSM as ready","entity_name":"OSM","entity_type":"gene"},{"created":"2025-06-05T21:10:32.925270+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.118","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: osm has been classified as Green List (High Evidence).","entity_name":"OSM","entity_type":"gene"},{"created":"2025-06-05T21:10:19.281928+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.118","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: OSM as Green List (high evidence)","entity_name":"OSM","entity_type":"gene"},{"created":"2025-06-05T21:10:19.275397+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.118","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: osm has been classified as Green List (High Evidence).","entity_name":"OSM","entity_type":"gene"},{"created":"2025-06-05T21:09:51.643073+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.117","user_name":"Bryony Thompson","item_type":"entity","text":"gene: OSM was added\ngene: OSM was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: OSM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSM were set to 39847438; 40309776; 17118758\nPhenotypes for gene: OSM were set to bone marrow failure syndrome MONDO:0000159\nReview for gene: OSM was set to GREEN\nAdded comment: 6 individuals with with OSM deficiency and an inherited severe bone marrow failure syndrome from 3 consanguineous families with 2 different homozygous LoF variants. Supporting zebrafish and mouse models. \nSources: Literature","entity_name":"OSM","entity_type":"gene"},{"created":"2025-06-05T21:09:43.989554+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2628","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: OSM as ready","entity_name":"OSM","entity_type":"gene"},{"created":"2025-06-05T21:09:43.981293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2628","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: osm has been classified as Green List (High Evidence).","entity_name":"OSM","entity_type":"gene"},{"created":"2025-06-05T21:08:46.608104+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2628","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: OSM as Green List (high evidence)","entity_name":"OSM","entity_type":"gene"},{"created":"2025-06-05T21:08:46.601009+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2628","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: osm has been classified as Green List (High Evidence).","entity_name":"OSM","entity_type":"gene"},{"created":"2025-06-05T21:08:04.063337+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2627","user_name":"Bryony Thompson","item_type":"entity","text":"gene: OSM was added\ngene: OSM was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OSM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSM were set to 39847438; 40309776; 17118758\nPhenotypes for gene: OSM were set to bone marrow failure syndrome MONDO:0000159\nReview for gene: OSM was set to GREEN\nAdded comment: 6 individuals with with OSM deficiency and an inherited severe bone marrow failure syndrome from 3 consanguineous families with 2 different homozygous LoF variants. Supporting zebrafish and mouse models. \nSources: Literature","entity_name":"OSM","entity_type":"gene"},{"created":"2025-06-05T18:35:30.560780+10:00","panel_name":"Amyloidosis","panel_id":191,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2025-06-05T18:35:09.831022+10:00","panel_name":"Amyloidosis","panel_id":191,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GPNMB as ready","entity_name":"GPNMB","entity_type":"gene"},{"created":"2025-06-05T18:35:09.824170+10:00","panel_name":"Amyloidosis","panel_id":191,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gpnmb has been classified as Green List (High Evidence).","entity_name":"GPNMB","entity_type":"gene"},{"created":"2025-06-05T18:34:57.651474+10:00","panel_name":"Amyloidosis","panel_id":191,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GPNMB as Green List (high evidence)","entity_name":"GPNMB","entity_type":"gene"},{"created":"2025-06-05T18:34:57.642079+10:00","panel_name":"Amyloidosis","panel_id":191,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gpnmb has been classified as Green List (High Evidence).","entity_name":"GPNMB","entity_type":"gene"},{"created":"2025-06-05T18:34:35.171694+10:00","panel_name":"Amyloidosis","panel_id":191,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: OSMR as ready","entity_name":"OSMR","entity_type":"gene"},{"created":"2025-06-05T18:34:35.164977+10:00","panel_name":"Amyloidosis","panel_id":191,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: osmr has been classified as Green List (High Evidence).","entity_name":"OSMR","entity_type":"gene"},{"created":"2025-06-05T18:34:30.076968+10:00","panel_name":"Amyloidosis","panel_id":191,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: OSMR as Green List (high evidence)","entity_name":"OSMR","entity_type":"gene"},{"created":"2025-06-05T18:34:30.063027+10:00","panel_name":"Amyloidosis","panel_id":191,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: osmr has been classified as Green List (High Evidence).","entity_name":"OSMR","entity_type":"gene"},{"created":"2025-06-05T18:32:39.560950+10:00","panel_name":"Hereditary Pigmentary Disorders","panel_id":4457,"panel_version":"1.3","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: OSMR as ready","entity_name":"OSMR","entity_type":"gene"},{"created":"2025-06-05T18:32:39.554031+10:00","panel_name":"Hereditary Pigmentary Disorders","panel_id":4457,"panel_version":"1.3","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: osmr has been classified as Green List (High Evidence).","entity_name":"OSMR","entity_type":"gene"},{"created":"2025-06-05T18:32:35.302940+10:00","panel_name":"Hereditary Pigmentary Disorders","panel_id":4457,"panel_version":"1.3","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: OSMR as Green List (high evidence)","entity_name":"OSMR","entity_type":"gene"},{"created":"2025-06-05T18:32:35.296372+10:00","panel_name":"Hereditary Pigmentary Disorders","panel_id":4457,"panel_version":"1.3","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: osmr has been classified as Green List (High Evidence).","entity_name":"OSMR","entity_type":"gene"},{"created":"2025-06-05T18:31:09.307544+10:00","panel_name":"Amyloidosis","panel_id":191,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GPNMB was added\ngene: GPNMB was added to Amyloidosis. Sources: Other\nMode of inheritance for gene: GPNMB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPNMB were set to 29336782\nPhenotypes for gene: GPNMB were set to amyloidosis, primary localized cutaneous, 3 MONDO:0054765","entity_name":"GPNMB","entity_type":"gene"},{"created":"2025-06-05T18:29:43.689448+10:00","panel_name":"Amyloidosis","panel_id":191,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"gene: OSMR was added\ngene: OSMR was added to Amyloidosis. Sources: Other\nMode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OSMR were set to 19375894; 19528426; 25054142; 20507362; 19690585\nPhenotypes for gene: OSMR were set to primary cutaneous amyloidosis MONDO:0015301","entity_name":"OSMR","entity_type":"gene"},{"created":"2025-06-05T18:27:26.592348+10:00","panel_name":"Hereditary Pigmentary Disorders","panel_id":4457,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"gene: OSMR was added\ngene: OSMR was added to Hereditary Pigmentary Disorders. Sources: Other\nMode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OSMR were set to 19375894; 19528426; 25054142; 20507362; 19690585\nPhenotypes for gene: OSMR were set to primary cutaneous amyloidosis MONDO:0015301","entity_name":"OSMR","entity_type":"gene"},{"created":"2025-06-05T11:31:44.042083+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.159","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: RHO: Rating: GREEN; Mode of pathogenicity: None; Publications: 21174529, 26887858, 1302614, 2137202, 26202387, 7846071; Phenotypes: inherited retinal dystrophy MONDO:0019118; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RHO","entity_type":"gene"},{"created":"2025-06-05T11:12:27.841402+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.159","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258582, 32014858; Phenotypes: RDH12-related recessive retinopathy MONDO:0800099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RDH12","entity_type":"gene"},{"created":"2025-06-05T11:04:30.023200+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.159","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: PRPH2 was added\ngene: PRPH2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: ClinGen\nMode of inheritance for gene: PRPH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: PRPH2 were set to 26061163; 31618092\nPhenotypes for gene: PRPH2 were set to PRPH2-related retinopathy MONDO:1040055\nReview for gene: PRPH2 was set to GREEN\nAdded comment: Classified as Definitive by ClinGen Retina GCEP on 01/02/2024  - https://search.clinicalgenome.org/CCID:005901\r\n\r\nAR individuals present with early onset and more severe RP phenotype compared to those with AD variants. \r\nLoF appears to be the mechanism of disease for both AR and AD \nSources: ClinGen","entity_name":"PRPH2","entity_type":"gene"},{"created":"2025-06-05T03:07:56.352619+10:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CST3 were changed from leukodystrophy MONDO:0019046, CST3-related to Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214","entity_name":"CST3","entity_type":"gene"},{"created":"2025-06-05T03:06:47.052828+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy MIM#105150; leukodystrophy MONDO:0019046 to Cerebral amyloid angiopathy MIM#105150; Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214","entity_name":"CST3","entity_type":"gene"},{"created":"2025-06-05T02:14:06.127542+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.160","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRR12 were set to 29556724","entity_name":"PRR12","entity_type":"gene"},{"created":"2025-06-05T02:12:43.710946+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.368","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RREB1 were set to 32938917; 38332451","entity_name":"RREB1","entity_type":"gene"},{"created":"2025-06-05T02:12:17.117768+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.159","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RREB1 were set to 32938917; 38332451","entity_name":"RREB1","entity_type":"gene"},{"created":"2025-06-05T02:11:39.099402+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RREB1 were set to 32938917; 38332451","entity_name":"RREB1","entity_type":"gene"},{"created":"2025-06-05T02:10:58.706367+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2626","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RREB1 were set to 32938917; 38332451","entity_name":"RREB1","entity_type":"gene"},{"created":"2025-06-05T02:10:07.811765+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.446","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RREB1 as ready","entity_name":"RREB1","entity_type":"gene"},{"created":"2025-06-05T02:10:07.804841+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.446","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rreb1 has been classified as Green List (High Evidence).","entity_name":"RREB1","entity_type":"gene"},{"created":"2025-06-05T02:07:44.195076+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.158","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAF1C were set to 32779182","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:07:13.631273+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.157","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAF1C as Green List (high evidence)","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:07:13.623879+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1c has been classified as Green List (High Evidence).","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:06:47.076094+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.156","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TAF1C: Changed phenotypes: Neurodevelopmental disorder (MONDO#0700092), TAF1C-related","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:06:25.977471+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.156","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TAF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 40371665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:05:10.288479+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.153","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAF1C as Amber List (moderate evidence)","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:05:10.279648+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1c has been classified as Amber List (Moderate Evidence).","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:04:52.336770+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.152","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAF1C as Amber List (moderate evidence)","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:04:52.330238+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.152","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1c has been classified as Amber List (Moderate Evidence).","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:04:00.546326+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2625","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAF1C as Green List (high evidence)","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:04:00.539657+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2625","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1c has been classified as Green List (High Evidence).","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:03:22.458076+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAF1C as ready","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:03:22.448294+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1c has been classified as Green List (High Evidence).","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:03:12.765471+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAF1C as Green List (high evidence)","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:03:12.758492+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1c has been classified as Green List (High Evidence).","entity_name":"TAF1C","entity_type":"gene"},{"created":"2025-06-05T02:02:08.608487+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2624","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALNT14 as ready","entity_name":"GALNT14","entity_type":"gene"},{"created":"2025-06-05T02:02:08.602088+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2624","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galnt14 has been classified as Red List (Low Evidence).","entity_name":"GALNT14","entity_type":"gene"},{"created":"2025-06-05T02:01:57.391704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2624","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALNT14 was added\ngene: GALNT14 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GALNT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GALNT14 were set to 40153534\nPhenotypes for gene: GALNT14 were set to IgA Nephropathy, susceptibility to, MONDO:0100555, GALNT14-related\nReview for gene: GALNT14 was set to RED\nAdded comment: LoF variant identified in large pedigree, including 6 affected individuals. Also found in 3 unaffected relatives. Supportive mouse model. \nSources: Literature","entity_name":"GALNT14","entity_type":"gene"},{"created":"2025-06-05T02:00:29.245761+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALNT14 as ready","entity_name":"GALNT14","entity_type":"gene"},{"created":"2025-06-05T02:00:29.238807+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galnt14 has been classified as Red List (Low Evidence).","entity_name":"GALNT14","entity_type":"gene"},{"created":"2025-06-05T02:00:18.212212+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALNT14 was added\ngene: GALNT14 was added to Haematuria_Alport. Sources: Literature\nMode of inheritance for gene: GALNT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GALNT14 were set to 40153534\nPhenotypes for gene: GALNT14 were set to IgA Nephropathy, susceptibility to, MONDO:0100555, GALNT14-related\nReview for gene: GALNT14 was set to RED\nAdded comment: LoF variant identified in large pedigree, including 6 affected individuals. Also found in 3 unaffected relatives. Supportive mouse model. \nSources: Literature","entity_name":"GALNT14","entity_type":"gene"},{"created":"2025-06-05T01:54:02.324951+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAAP100 as ready","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:54:02.316722+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faap100 has been classified as Green List (High Evidence).","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:53:57.748739+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAAP100 as Green List (high evidence)","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:53:57.742184+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faap100 has been classified as Green List (High Evidence).","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:53:34.996986+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAAP100 was added\ngene: FAAP100 was added to Radial Ray Abnormalities. Sources: Literature\nMode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAAP100 were set to 40244696; 40232843\nPhenotypes for gene: FAAP100 were set to Fanconi anaemia, MONDO:0019391, FAAP100-related\nReview for gene: FAAP100 was set to GREEN\nAdded comment: PMID 40244696: reports two families with homozygous LoF variants. First family had 6 pregnancy losses and two infants with a severe phenotype characterised by multiple congenital anomalies. Second family had one liveborn child with multiple anomalies and a termination of pregnancy for multiple congenital anomalies. Supportive functional data. Third family reported in PMID 40232843, homozygous missense variant in a fetus with multiple congenital anomalies suggestive of FA. Functional data. \nSources: Literature","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:51:53.313043+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.367","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAAP100 as ready","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:51:53.303349+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.367","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faap100 has been classified as Green List (High Evidence).","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:51:46.691206+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.367","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAAP100 as Green List (high evidence)","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:51:46.684545+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.367","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faap100 has been classified as Green List (High Evidence).","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:51:34.366573+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.366","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAAP100 was added\ngene: FAAP100 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAAP100 were set to 40244696; 40232843\nPhenotypes for gene: FAAP100 were set to Fanconi anaemia, MONDO:0019391, FAAP100-related\nReview for gene: FAAP100 was set to GREEN\nAdded comment: PMID 40244696: reports two families with homozygous LoF variants. First family had 6 pregnancy losses and two infants with a severe phenotype characterised by multiple congenital anomalies. Second family had one liveborn child with multiple anomalies and a termination of pregnancy for multiple congenital anomalies. Supportive functional data. Third family reported in PMID 40232843, homozygous missense variant in a fetus with multiple congenital anomalies suggestive of FA. Functional data. \nSources: Literature","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:49:55.787381+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2623","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAAP100 as ready","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:49:55.769141+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2623","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faap100 has been classified as Green List (High Evidence).","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:49:45.567132+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2623","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAAP100 as Green List (high evidence)","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:49:45.560307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2623","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faap100 has been classified as Green List (High Evidence).","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:49:29.062065+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2622","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAAP100 was added\ngene: FAAP100 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAAP100 were set to 40244696; 40232843\nPhenotypes for gene: FAAP100 were set to Fanconi anaemia, MONDO:0019391, FAAP100-related\nReview for gene: FAAP100 was set to GREEN\nAdded comment: PMID 40244696: reports two families with homozygous LoF variants. First family had 6 pregnancy losses and two infants with a severe phenotype characterised by multiple congenital anomalies. Second family had one liveborn child with multiple anomalies and a termination of pregnancy for multiple congenital anomalies. Supportive functional data. Third family reported in PMID 40232843, homozygous missense variant in a fetus with multiple congenital anomalies suggestive of FA. Functional data. \nSources: Literature","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:46:50.150654+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAAP100 as ready","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:46:50.142898+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faap100 has been classified as Green List (High Evidence).","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:46:44.962005+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAAP100 as Green List (high evidence)","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:46:44.954159+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faap100 has been classified as Green List (High Evidence).","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-05T01:46:22.886714+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.115","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAAP100 was added\ngene: FAAP100 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAAP100 were set to 40244696; 40232843\nPhenotypes for gene: FAAP100 were set to Fanconi anaemia, MONDO:0019391, FAAP100-related\nReview for gene: FAAP100 was set to GREEN\nAdded comment: PMID 40244696: reports two families with homozygous LoF variants. First family had 6 pregnancy losses and two infants with a severe phenotype characterised by multiple congenital anomalies. Second family had one liveborn child with multiple anomalies and a termination of pregnancy for multiple congenital anomalies. Supportive functional data. Third family reported in PMID 40232843, homozygous missense variant in a fetus with multiple congenital anomalies suggestive of FA. Functional data. \nSources: Literature","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-06-04T18:57:37.882044+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.313","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TM2D3 as ready","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:57:37.869226+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tm2d3 has been classified as Green List (High Evidence).","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:57:14.500661+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.313","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TM2D3 as Green List (high evidence)","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:57:14.489061+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tm2d3 has been classified as Green List (High Evidence).","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:56:51.829556+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.312","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TM2D3 was added\ngene: TM2D3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TM2D3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TM2D3 were set to 40449487\nPhenotypes for gene: TM2D3 were set to Neurodevelopmental disorder, MONDO:0700092, TM2D3-related\nReview for gene: TM2D3 was set to GREEN\nAdded comment: Four individuals from 4 unrelated families identified with biallelic variants in this gene. Supportive functional data.\r\n\r\nMicrocephaly is part of the phenotype. \nSources: Literature","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:55:20.850086+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.156","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TM2D3 as ready","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:55:20.840480+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.156","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tm2d3 has been classified as Green List (High Evidence).","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:55:14.102928+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.156","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TM2D3 as Green List (high evidence)","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:55:14.095433+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.156","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tm2d3 has been classified as Green List (High Evidence).","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:54:47.179220+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.155","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TM2D3 was added\ngene: TM2D3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TM2D3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TM2D3 were set to 40449487\nPhenotypes for gene: TM2D3 were set to Neurodevelopmental disorder, MONDO:0700092, TM2D3-related\nReview for gene: TM2D3 was set to GREEN\nAdded comment: Four individuals from 4 unrelated families identified with biallelic variants in this gene. Supportive functional data. \nSources: Literature","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:45:35.273020+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2621","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TM2D3 as ready","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:45:35.263109+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2621","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tm2d3 has been classified as Green List (High Evidence).","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:45:26.289526+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2621","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TM2D3 as Green List (high evidence)","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:45:26.282380+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2621","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tm2d3 has been classified as Green List (High Evidence).","entity_name":"TM2D3","entity_type":"gene"},{"created":"2025-06-04T18:45:10.323210+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2620","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TM2D3 was added\ngene: TM2D3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TM2D3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TM2D3 were set to 40449487\nPhenotypes for gene: TM2D3 were set to Neurodevelopmental disorder, MONDO:0700092, TM2D3-related\nReview for gene: TM2D3 was set to GREEN\nAdded comment: Four individuals from 4 unrelated families identified with biallelic variants in this gene. Supportive functional data. \nSources: Literature","entity_name":"TM2D3","entity_type":"gene"}]}