{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=562","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=560","results":[{"created":"2023-08-14T18:57:05.703498+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EPM2A as ready","entity_name":"EPM2A","entity_type":"gene"},{"created":"2023-08-14T18:57:05.691063+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epm2a has been classified as Green List (High Evidence).","entity_name":"EPM2A","entity_type":"gene"},{"created":"2023-08-14T18:57:01.269593+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPM2A were changed from  to Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780","entity_name":"EPM2A","entity_type":"gene"},{"created":"2023-08-14T18:56:20.370453+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPM2A were set to ","entity_name":"EPM2A","entity_type":"gene"},{"created":"2023-08-14T18:55:46.168568+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPM2A","entity_type":"gene"},{"created":"2023-08-14T16:00:05.356882+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301473, 11182931; Phenotypes: Niemann-Pick disease, type C1 (MIM#257220, MONDO:0009757); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPC1","entity_type":"gene"},{"created":"2023-08-14T15:16:36.593024+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.274","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PEX12 as ready","entity_name":"PEX12","entity_type":"gene"},{"created":"2023-08-14T15:16:36.583668+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.274","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pex12 has been classified as Green List (High Evidence).","entity_name":"PEX12","entity_type":"gene"},{"created":"2023-08-14T15:16:18.889882+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.274","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PEX12 were set to 24627108","entity_name":"PEX12","entity_type":"gene"},{"created":"2023-08-14T15:16:03.066777+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.273","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PEX12 as Green List (high evidence)","entity_name":"PEX12","entity_type":"gene"},{"created":"2023-08-14T15:16:03.054738+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.273","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pex12 has been classified as Green List (High Evidence).","entity_name":"PEX12","entity_type":"gene"},{"created":"2023-08-14T15:15:43.446976+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.272","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"PEX12","entity_type":"gene"},{"created":"2023-08-14T15:15:38.715499+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.272","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: PEX12: Added comment: Neuropathy as a feature of the conditon in 45% (9/14) families with an Egyptian founder variant ((c.1047_1049del p.(Gln349del)) and also in an additional proband.; Changed rating: GREEN; Changed publications: 24627108, 33123925","entity_name":"PEX12","entity_type":"gene"},{"created":"2023-08-14T15:07:46.033228+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.272","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NIPA1 as ready","entity_name":"NIPA1","entity_type":"gene"},{"created":"2023-08-14T15:07:46.023970+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.272","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nipa1 has been classified as Green List (High Evidence).","entity_name":"NIPA1","entity_type":"gene"},{"created":"2023-08-14T15:07:42.333317+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.272","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NIPA1 as Green List (high evidence)","entity_name":"NIPA1","entity_type":"gene"},{"created":"2023-08-14T15:07:42.319812+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.272","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nipa1 has been classified as Green List (High Evidence).","entity_name":"NIPA1","entity_type":"gene"},{"created":"2023-08-14T15:07:21.744142+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.271","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: NIPA1: Added comment: Neuropathy is not a prominent feature of the complicated HSP sometimes reported associated with this gene. However, it has been reported in 6/110 (5.5%) of NIPA1-associated complicated HSP cases.; Changed rating: GREEN; Changed publications: 34863451","entity_name":"NIPA1","entity_type":"gene"},{"created":"2023-08-14T15:04:43.319849+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.271","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"NIPA1","entity_type":"gene"},{"created":"2023-08-14T15:03:36.006318+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: UBQLN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301623, 31319884, 21857683, 30348461; Phenotypes: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857); Mode of inheritance: None","entity_name":"UBQLN2","entity_type":"gene"},{"created":"2023-08-14T14:54:45.441602+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.271","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: IFRD1 as ready","entity_name":"IFRD1","entity_type":"gene"},{"created":"2023-08-14T14:54:45.432359+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.271","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ifrd1 has been classified as Red List (Low Evidence).","entity_name":"IFRD1","entity_type":"gene"},{"created":"2023-08-14T14:53:15.583048+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.271","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DCAF8 as ready","entity_name":"DCAF8","entity_type":"gene"},{"created":"2023-08-14T14:53:15.571900+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.271","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dcaf8 has been classified as Amber List (Moderate Evidence).","entity_name":"DCAF8","entity_type":"gene"},{"created":"2023-08-14T14:53:07.694856+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.271","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DCAF8 were set to ","entity_name":"DCAF8","entity_type":"gene"},{"created":"2023-08-14T14:52:07.827878+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.270","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CCT5 as ready","entity_name":"CCT5","entity_type":"gene"},{"created":"2023-08-14T14:52:07.819229+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.270","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cct5 has been classified as Amber List (Moderate Evidence).","entity_name":"CCT5","entity_type":"gene"},{"created":"2023-08-14T14:51:54.672640+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.270","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CCT5 were set to ","entity_name":"CCT5","entity_type":"gene"},{"created":"2023-08-14T14:51:16.228689+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.269","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: CCT5: Added comment: Now two families reported with two different missense variants (Leu224Val and His147Arg).; Changed publications: 16399879, 25124038, 25345891, 33076433, 37237456","entity_name":"CCT5","entity_type":"gene"},{"created":"2023-08-14T14:50:10.031272+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1111","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: CCT5: Added comment: Now two families reported with two different missense variants (Leu224Val and His147Arg).; Changed publications: 16399879, 25124038, 25345891, 33076433, 37237456","entity_name":"CCT5","entity_type":"gene"},{"created":"2023-08-14T14:41:30.158273+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15034582, 30103325, 21145000; Phenotypes: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320), Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VCP","entity_type":"gene"},{"created":"2023-08-14T14:07:32.885636+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: XK: Rating: RED; Mode of pathogenicity: None; Publications: 12899725; Phenotypes: McLeod syndrome with or without chronic granulomatous disease (MIM#300842); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"XK","entity_type":"gene"},{"created":"2023-08-14T13:56:27.866401+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.269","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TYMP as ready","entity_name":"TYMP","entity_type":"gene"},{"created":"2023-08-14T13:56:27.853096+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.269","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tymp has been classified as Green List (High Evidence).","entity_name":"TYMP","entity_type":"gene"},{"created":"2023-08-14T13:51:27.733357+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.269","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PMM2 as ready","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-08-14T13:51:27.724573+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.269","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pmm2 has been classified as Green List (High Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-08-14T13:49:07.517490+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.269","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PMM2 were set to ","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-08-14T13:48:09.857399+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.268","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PRNP as ready","entity_name":"PRNP","entity_type":"gene"},{"created":"2023-08-14T13:48:09.845144+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.268","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: prnp has been classified as Green List (High Evidence).","entity_name":"PRNP","entity_type":"gene"},{"created":"2023-08-14T13:47:51.501227+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.268","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: PRNP were changed from Prion diseases to Prion diseases; peripheral neuropathy; chronic diarrhea; dementia","entity_name":"PRNP","entity_type":"gene"},{"created":"2023-08-14T13:47:08.609630+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.267","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PRNP were set to ","entity_name":"PRNP","entity_type":"gene"},{"created":"2023-08-14T13:46:33.309140+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.266","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953922, 31907995, 29928661, 27716661, 26926995, 24224623, 26768678; Phenotypes: peripheral neuropathy, chronic diarrhea, dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRNP","entity_type":"gene"},{"created":"2023-08-14T13:34:07.315741+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5335","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: ZFHX4 were changed from Developmental disorders; intellectual disability, dysmorphic features to neurodevelopmental disorder, ZFHX4-related (MONDO:0700092)","entity_name":"ZFHX4","entity_type":"gene"},{"created":"2023-08-14T13:33:53.844882+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.266","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: PMM2: Changed rating: GREEN","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-08-14T13:33:13.639624+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1111","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: ZFHX4 were changed from Developmental disorders to neurodevelopmental disorder, ZFHX4-related (MONDO:0700092)","entity_name":"ZFHX4","entity_type":"gene"},{"created":"2023-08-14T13:25:26.304336+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.266","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GLA as ready","entity_name":"GLA","entity_type":"gene"},{"created":"2023-08-14T13:25:26.292464+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.266","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gla has been classified as Green List (High Evidence).","entity_name":"GLA","entity_type":"gene"},{"created":"2023-08-14T13:25:12.162239+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.266","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: GLA were set to ","entity_name":"GLA","entity_type":"gene"},{"created":"2023-08-14T13:24:19.948381+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2023-08-14T13:24:16.383477+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Bryony Thompson","item_type":"entity","text":"commented on gene: EXOSC8","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2023-08-14T13:24:01.059831+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2023-08-14T13:21:34.537244+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301545, 17436289; Phenotypes: frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRN","entity_type":"gene"},{"created":"2023-08-14T13:21:17.451008+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DARS2 as ready","entity_name":"DARS2","entity_type":"gene"},{"created":"2023-08-14T13:21:17.441795+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dars2 has been classified as Green List (High Evidence).","entity_name":"DARS2","entity_type":"gene"},{"created":"2023-08-14T09:12:57.442396+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12019207; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPM2A","entity_type":"gene"},{"created":"2023-08-12T14:00:21.647666+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.531","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-08-12T13:59:36.217780+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1880","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-08-12T13:58:28.176586+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1110","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM#\t620461","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-08-11T18:00:49.385448+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21532572; Phenotypes: Neuropathy, hereditary sensory, type IE (MIM#614116); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"DNMT1","entity_type":"gene"},{"created":"2023-08-11T16:54:18.806431+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 6153706, 11489285, 12112194, 12790899; Phenotypes: Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant (MIM#162350); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2023-08-11T16:26:30.794571+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22934315, 24336230; Phenotypes: Leukoencephalopathy, diffuse hereditary, with spheroids 1 (MIM#221820); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"CSF1R","entity_type":"gene"},{"created":"2023-08-11T15:44:31.019589+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CHMP2B: 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: 20301378, 16041373; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"CHMP2B","entity_type":"gene"},{"created":"2023-08-11T15:33:30.174491+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTB were changed from Becker's naevus to Becker nevus, somatic mosaic, MIM# 604919","entity_name":"ACTB","entity_type":"gene"},{"created":"2023-08-11T15:33:14.081620+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Becker nevus, somatic mosaic, MIM# 604919; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTB","entity_type":"gene"},{"created":"2023-08-11T15:27:32.316815+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301340, 1671712, 1678058, 1908231, 1302033; Phenotypes: Alzheimer disease (MIM#104300, MONDO:0007088); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"APP","entity_type":"gene"},{"created":"2023-08-11T15:12:36.645302+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SPAST: Rating: RED; Mode of pathogenicity: None; Publications: 20301339; Phenotypes: Spastic paraplegia 4, autosomal dominant 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPAST","entity_type":"gene"},{"created":"2023-08-11T11:33:41.232684+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: 20301507, 20301289; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-08-11T11:17:45.551628+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.125","user_name":"Peter McNaughton","item_type":"entity","text":"gene: FNIP1 was added\ngene: FNIP1 was added to Predominantly Antibody Deficiency. Sources: Literature\nMode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FNIP1 were set to PMID: 37522988; PMID: 32181500; PMID: 32905580 (2020)\nPhenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia; Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705\nReview for gene: FNIP1 was set to GREEN\nAdded comment: PMID: 37522988 (2023)- Additional patient with - Peripheral B cell deficiency, severe hypogammaglobulinemia/agammaglobulinemia, intermittent neutropenia responsive to G-CSF treatment, in conjunction with hypertrophic cardiomyopathy of the ventricle associated with Wolff-Parkinson-White Syndrome, and psycho-motor as well as intellectual developmental delay.\r\n\r\nPMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.\r\n\r\n- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway. \nSources: Literature","entity_name":"FNIP1","entity_type":"gene"},{"created":"2023-08-11T09:39:53.828168+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HEXA: Rating: RED; Mode of pathogenicity: None; Publications: 3159334, 1838393; Phenotypes: Tay-Sachs disease MIM#272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HEXA","entity_type":"gene"},{"created":"2023-08-11T08:57:09.165640+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ASAH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Farber lipogranulomatosis (MIM#228000), Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ASAH1","entity_type":"gene"},{"created":"2023-08-10T14:42:34.095675+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1109","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNRNPC as ready","entity_name":"HNRNPC","entity_type":"gene"},{"created":"2023-08-10T14:42:34.082736+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpc has been classified as Green List (High Evidence).","entity_name":"HNRNPC","entity_type":"gene"},{"created":"2023-08-10T14:42:23.491390+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1109","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HNRNPC as Green List (high evidence)","entity_name":"HNRNPC","entity_type":"gene"},{"created":"2023-08-10T14:42:23.481912+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpc has been classified as Green List (High Evidence).","entity_name":"HNRNPC","entity_type":"gene"},{"created":"2023-08-10T14:42:05.526579+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1108","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNRNPC was added\ngene: HNRNPC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HNRNPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPC were set to 37541189\nPhenotypes for gene: HNRNPC were set to Neurodevelopmental disorder (MONDO:0700092), HNRNPC-related\nReview for gene: HNRNPC was set to GREEN\nAdded comment: 13 individuals with global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology with heterozygous HNRNPC germline variants. Five had an identical in-frame deletion of nine amino acids in the extreme C terminus. Supportive functional data; haploinsufficiency is the mechanism. \nSources: Literature","entity_name":"HNRNPC","entity_type":"gene"},{"created":"2023-08-10T14:40:58.811762+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5334","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNRNPC as ready","entity_name":"HNRNPC","entity_type":"gene"},{"created":"2023-08-10T14:40:58.800565+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5334","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpc has been classified as Green List (High Evidence).","entity_name":"HNRNPC","entity_type":"gene"},{"created":"2023-08-10T14:40:48.459721+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5334","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HNRNPC as Green List (high evidence)","entity_name":"HNRNPC","entity_type":"gene"},{"created":"2023-08-10T14:40:48.448140+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5334","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpc has been classified as Green List (High Evidence).","entity_name":"HNRNPC","entity_type":"gene"},{"created":"2023-08-10T14:40:15.062842+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5333","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNRNPC was added\ngene: HNRNPC was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HNRNPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPC were set to 37541189\nPhenotypes for gene: HNRNPC were set to Neurodevelopmental disorder (MONDO:0700092), HNRNPC-related\nReview for gene: HNRNPC was set to GREEN\nAdded comment: 13 individuals with global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology with heterozygous HNRNPC germline variants. Five had an identical in-frame deletion of nine amino acids in the extreme C terminus.\r\n\r\nSupportive functional data; haploinsufficiency is the mechanism. \nSources: Literature","entity_name":"HNRNPC","entity_type":"gene"},{"created":"2023-08-10T14:18:01.227586+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XK as ready","entity_name":"XK","entity_type":"gene"},{"created":"2023-08-10T14:18:01.217192+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xk has been classified as Green List (High Evidence).","entity_name":"XK","entity_type":"gene"},{"created":"2023-08-10T14:17:58.259319+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease, 300842; acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy to McLeod syndrome with or without chronic granulomatous disease (MIM#300842)","entity_name":"XK","entity_type":"gene"},{"created":"2023-08-10T14:16:08.902153+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XK were set to ","entity_name":"XK","entity_type":"gene"},{"created":"2023-08-10T14:15:13.809559+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TWNK as ready","entity_name":"TWNK","entity_type":"gene"},{"created":"2023-08-10T14:15:13.799669+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: twnk has been classified as Green List (High Evidence).","entity_name":"TWNK","entity_type":"gene"},{"created":"2023-08-10T14:13:48.926484+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TWNK were changed from HMSN; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 to Perrault syndrome (MIM#616138); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286","entity_name":"TWNK","entity_type":"gene"},{"created":"2023-08-10T14:05:34.735081+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TWNK were set to 25254289; 25355836; 27650058; 28178980","entity_name":"TWNK","entity_type":"gene"},{"created":"2023-08-10T14:05:14.320474+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TWNK was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TWNK","entity_type":"gene"},{"created":"2023-08-10T14:05:05.962072+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TWNK","entity_type":"gene"},{"created":"2023-08-10T14:04:45.535708+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35011763; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TWNK","entity_type":"gene"},{"created":"2023-08-10T14:03:24.507412+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TWNK were set to ","entity_name":"TWNK","entity_type":"gene"},{"created":"2023-08-10T14:03:04.016188+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TWNK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TWNK","entity_type":"gene"},{"created":"2023-08-10T14:02:20.195270+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB3 as ready","entity_name":"TUBB3","entity_type":"gene"},{"created":"2023-08-10T14:02:20.186112+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb3 has been classified as Green List (High Evidence).","entity_name":"TUBB3","entity_type":"gene"},{"created":"2023-08-10T14:02:12.184118+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBB3 were changed from Fibrosis of extraocular muscles, congenital, 3A; HMSN to Fibrosis of extraocular muscles, congenital, 3A (MIM#600638); Neuropathy","entity_name":"TUBB3","entity_type":"gene"},{"created":"2023-08-10T14:01:47.148921+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBB3 were set to ","entity_name":"TUBB3","entity_type":"gene"},{"created":"2023-08-10T14:01:22.859077+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34652576; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A (MIM#600638), Neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB3","entity_type":"gene"},{"created":"2023-08-10T13:58:14.863635+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTR as ready","entity_name":"TTR","entity_type":"gene"},{"created":"2023-08-10T13:58:14.854447+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttr has been classified as Green List (High Evidence).","entity_name":"TTR","entity_type":"gene"}]}