{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=226","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=224","results":[{"created":"2025-05-18T04:49:42.033363+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.333","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PPP2R5C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Houge-Janssens syndrome 4, MIM# 621185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPP2R5C","entity_type":"gene"},{"created":"2025-05-18T04:49:16.565310+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.143","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP2R5C were changed from Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability to Houge-Janssens syndrome 4, MIM# 621185","entity_name":"PPP2R5C","entity_type":"gene"},{"created":"2025-05-18T04:48:48.513683+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.142","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Houge-Janssens syndrome 4, MIM# 621185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPP2R5C","entity_type":"gene"},{"created":"2025-05-18T04:48:18.630552+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2593","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP2R5C were changed from Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability to Houge-Janssens syndrome 4, MIM# 621185","entity_name":"PPP2R5C","entity_type":"gene"},{"created":"2025-05-18T04:47:51.532455+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2592","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Houge-Janssens syndrome 4, MIM# 621185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPP2R5C","entity_type":"gene"},{"created":"2025-05-18T04:47:30.561150+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP2R5C were changed from Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability to Houge-Janssens syndrome 4, MIM# 621185","entity_name":"PPP2R5C","entity_type":"gene"},{"created":"2025-05-18T04:46:55.444376+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPP2R5C: Changed phenotypes: Houge-Janssens syndrome 4, MIM# 621185","entity_name":"PPP2R5C","entity_type":"gene"},{"created":"2025-05-17T19:45:12.591297+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.263","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: RAI1_FAME8_TTTCA as ready","entity_name":"RAI1_FAME8_TTTCA","entity_type":"str"},{"created":"2025-05-17T19:45:12.583305+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.263","user_name":"Bryony Thompson","item_type":"entity","text":"Str: rai1_fame8_tttca has been classified as Red List (Low Evidence).","entity_name":"RAI1_FAME8_TTTCA","entity_type":"str"},{"created":"2025-05-17T19:44:56.355741+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.263","user_name":"Bryony Thompson","item_type":"entity","text":"STR: RAI1_FAME8_TTTCA was added\nSTR: RAI1_FAME8_TTTCA was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: RAI1_FAME8_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: RAI1_FAME8_TTTCA were set to 37994247\nPhenotypes for STR: RAI1_FAME8_TTTCA were set to benign adult familial myoclonic epilepsy MONDO:0019448\nReview for STR: RAI1_FAME8_TTTCA was set to RED\nAdded comment: A single family from Mali segregating TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1. Consistent with other FAME expansions. RNA toxicity is suggested to be the mechanism. Loss of function is the mechanism of disease of Smith-Magenis syndrome. \nSources: Literature","entity_name":"RAI1_FAME8_TTTCA","entity_type":"str"},{"created":"2025-05-17T19:19:09.170814+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.262","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: NAXE_NME_GGGCC as ready","entity_name":"NAXE_NME_GGGCC","entity_type":"str"},{"created":"2025-05-17T19:19:09.161402+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.262","user_name":"Bryony Thompson","item_type":"entity","text":"Str: naxe_nme_gggcc has been classified as Amber List (Moderate Evidence).","entity_name":"NAXE_NME_GGGCC","entity_type":"str"},{"created":"2025-05-17T19:19:01.023115+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.262","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: NAXE_NME_GGGCC as Amber List (moderate evidence)","entity_name":"NAXE_NME_GGGCC","entity_type":"str"},{"created":"2025-05-17T19:19:01.015915+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.262","user_name":"Bryony Thompson","item_type":"entity","text":"Str: naxe_nme_gggcc has been classified as Amber List (Moderate Evidence).","entity_name":"NAXE_NME_GGGCC","entity_type":"str"},{"created":"2025-05-17T19:18:51.144373+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.261","user_name":"Bryony Thompson","item_type":"entity","text":"STR: NAXE_NME_GGGCC was added\nSTR: NAXE_NME_GGGCC was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: NAXE_NME_GGGCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: NAXE_NME_GGGCC were set to 39455596\nPhenotypes for STR: NAXE_NME_GGGCC were set to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781\nReview for STR: NAXE_NME_GGGCC was set to AMBER\nSTR: NAXE_NME_GGGCC was marked as clinically relevant\nSTR: NAXE_NME_GGGCC was marked as current diagnostic\nAdded comment: A single case with a homozygous (result of UPD) repeat expansion in the promoter that leads to methylation of the promoter (identified by long-read sequencing). Biallelic loss of function variants in this gene cause a mitochondrial disease. \nSources: Literature","entity_name":"NAXE_NME_GGGCC","entity_type":"str"},{"created":"2025-05-17T17:22:49.849071+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.260","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: THAP11_SCA51_CAG were set to 15368101; 24677642; 34165550; 38113319; 37148549","entity_name":"THAP11_SCA51_CAG","entity_type":"str"},{"created":"2025-05-17T17:22:14.748882+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.259","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: THAP11_SCA51_CAG were set to 15368101; 24677642; 34165550; 38113319","entity_name":"THAP11_SCA51_CAG","entity_type":"str"},{"created":"2025-05-17T16:57:22.990458+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.258","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: AFF3_FRA2A_CGG were set to 24763282","entity_name":"AFF3_FRA2A_CGG","entity_type":"str"},{"created":"2025-05-17T16:02:42.873534+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.257","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: DIP2B_FRA12A_CGG were set to 17236128","entity_name":"DIP2B_FRA12A_CGG","entity_type":"str"},{"created":"2025-05-16T09:41:23.464101+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.223","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: ARL2BP was added\ngene: ARL2BP was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL2BP were set to 23849777; 31425546; 36507858; 38649918\nPhenotypes for gene: ARL2BP were set to Ciliopathy MONDO:0005308\nReview for gene: ARL2BP was set to GREEN\nAdded comment: Classified as Definitive by ClinGen Retina GCEP on 02/01/2025 - https://search.clinicalgenome.org/CCID:004172\r\n\r\nAffected individuals present with different forms of ocular phenotypes along with other non-ocular phenotypes. \nSources: Expert Review","entity_name":"ARL2BP","entity_type":"gene"},{"created":"2025-05-16T09:36:36.916563+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: ARL2BP: Rating: RED; Mode of pathogenicity: None; Publications: 27790702, 20301590; Phenotypes: Retinitis pigmentosa 82 with or without situs inversus MIM#615434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARL2BP","entity_type":"gene"},{"created":"2025-05-15T16:42:54.583673+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: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28442542; Phenotypes: Joubert syndrome 3 MONDO:0012078, retinitis pigmentosa MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AHI1","entity_type":"gene"},{"created":"2025-05-15T15:39:13.578149+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: AGBL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26720455, 26355662, 27842159; Phenotypes: retinitis pigmentosa 75, MONDO:0014871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGBL5","entity_type":"gene"},{"created":"2025-05-15T14:55:47.268722+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":"changed review comment from: 20797687 - only one individual presenting with nonsyndromic RP.\r\n\r\nPolyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC syndrome) is a form of syndromic RP. This association is green on syndromic RP.; to: 20797687 - only one individual presenting with nonsyndromic RP.\r\n\r\nPolyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC syndrome) is a form of syndromic RP. This association is green on syndromic RP.\r\nMultiple individuals reported with syndromic RP.","entity_name":"ABHD12","entity_type":"gene"},{"created":"2025-05-15T14:55:33.057491+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: ABHD12: Rating: RED; Mode of pathogenicity: None; Publications: 20797687; Phenotypes: PHARC syndrome MONDO:0012984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABHD12","entity_type":"gene"},{"created":"2025-05-15T11:40:15.178922+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.223","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11479594, 15911822, 1734303; Phenotypes: pantothenate kinase-associated neurodegeneration MONDO:0009319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PANK2","entity_type":"gene"},{"created":"2025-05-14T14:26:44.171213+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2592","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCO2","entity_type":"gene"},{"created":"2025-05-14T13:54:42.855067+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GATA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GATA1","entity_type":"gene"},{"created":"2025-05-14T13:54:14.277065+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia (MONDO:0015253); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GATA1","entity_type":"gene"},{"created":"2025-05-13T09:49:34.118348+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.39","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: ATP13A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34493544; Phenotypes: Pulmonary hypertension, primary, 5 MIM#265400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP13A3","entity_type":"gene"},{"created":"2025-05-13T09:43:03.620729+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2591","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24813872; Phenotypes: methylmalonic aciduria, cblB type MONDO:0009614; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMAB","entity_type":"gene"},{"created":"2025-05-13T08:31:10.677464+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.37","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: NPHP4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP4","entity_type":"gene"},{"created":"2025-05-12T17:17:54.822167+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PANX1 as ready","entity_name":"PANX1","entity_type":"gene"},{"created":"2025-05-12T17:17:54.812291+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: panx1 has been classified as Green List (High Evidence).","entity_name":"PANX1","entity_type":"gene"},{"created":"2025-05-12T17:17:51.341545+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PANX1 as Green List (high evidence)","entity_name":"PANX1","entity_type":"gene"},{"created":"2025-05-12T17:17:51.331318+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: panx1 has been classified as Green List (High Evidence).","entity_name":"PANX1","entity_type":"gene"},{"created":"2025-05-12T17:17:14.761081+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEPT4 as ready","entity_name":"SEPT4","entity_type":"gene"},{"created":"2025-05-12T17:17:14.751049+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sept4 has been classified as Green List (High Evidence).","entity_name":"SEPT4","entity_type":"gene"},{"created":"2025-05-12T17:16:59.212466+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEPT4 as Green List (high evidence)","entity_name":"SEPT4","entity_type":"gene"},{"created":"2025-05-12T17:16:59.202644+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sept4 has been classified as Green List (High Evidence).","entity_name":"SEPT4","entity_type":"gene"},{"created":"2025-05-12T17:16:50.764005+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SEPT4 was added\ngene: SEPT4 was added to Infertility and Pregnancy Loss. Sources: Expert Review\nMode of inheritance for gene: SEPT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEPT4 were set to 36135717; 15737931; 15737930\nPhenotypes for gene: SEPT4 were set to Spermatogenic failure 99, MIM# 621194\nReview for gene: SEPT4 was set to GREEN\nAdded comment: Two unrelated cases with primary male infertility (asthenoteratozoospermia) from consanguineous Chinsese families with 2 difference homozygous stopgain variants (Patient 1: c.721A>T, p.R241* and Patient 2: c.205C>T, p.R69*). Multiple supporting mouse models where the male mice are sterile. \nSources: Expert Review","entity_name":"SEPT4","entity_type":"gene"},{"created":"2025-05-12T17:15:43.680812+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2591","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEPT4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 99, MIM# 621194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEPT4","entity_type":"gene"},{"created":"2025-05-12T17:12:16.365170+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCC8 were changed from permanent neonatal diabetes mellitus MONDO:0100164; transient neonatal diabetes mellitus MONDO:0020525 to Maturity-onset diabetes of the young, type 12, MIM# 621196; permanent neonatal diabetes mellitus MONDO:0100164; transient neonatal diabetes mellitus MONDO:0020525","entity_name":"ABCC8","entity_type":"gene"},{"created":"2025-05-12T17:12:04.764666+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCC8 were set to 21054355; 32027066; 32376986","entity_name":"ABCC8","entity_type":"gene"},{"created":"2025-05-12T17:11:46.829066+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21989597, 34014594; Phenotypes: Maturity-onset diabetes of the young, type 12, MIM# 621196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ABCC8","entity_type":"gene"},{"created":"2025-05-12T17:11:07.645615+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2591","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCC8 were changed from Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800 to Maturity-onset diabetes of the young, type 12, MIM# 621196; Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800","entity_name":"ABCC8","entity_type":"gene"},{"created":"2025-05-12T17:07:58.712451+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPL49 were changed from Mitochondrial disease, MONDO:0044970, MRPL49-related to Combined oxidative phosphorylation deficiency 60, MIM# 621195","entity_name":"MRPL49","entity_type":"gene"},{"created":"2025-05-12T17:07:49.036048+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPL49: Changed phenotypes: Combined oxidative phosphorylation deficiency 60, MIM# 621195","entity_name":"MRPL49","entity_type":"gene"},{"created":"2025-05-12T17:06:32.007808+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.142","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPL49 were changed from Mitochondrial disease, MONDO:0044970, MRPL49-related to Combined oxidative phosphorylation deficiency 60, MIM# 621195","entity_name":"MRPL49","entity_type":"gene"},{"created":"2025-05-12T17:06:07.810900+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.141","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPL49: Changed phenotypes: Combined oxidative phosphorylation deficiency 60, MIM# 621195","entity_name":"MRPL49","entity_type":"gene"},{"created":"2025-05-12T17:05:55.510174+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.215","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPL49 were changed from Mitochondrial disease, MONDO:0044970, MRPL49-related to Combined oxidative phosphorylation deficiency 60, MIM# 621195","entity_name":"MRPL49","entity_type":"gene"},{"created":"2025-05-12T17:05:29.957015+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.214","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPL49: Changed phenotypes: Combined oxidative phosphorylation deficiency 60, MIM# 621195","entity_name":"MRPL49","entity_type":"gene"},{"created":"2025-05-12T17:05:20.113421+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.974","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPL49 were changed from Mitochondrial disease, MONDO:0044970, MRPL49-related to Combined oxidative phosphorylation deficiency 60, MIM# 621195","entity_name":"MRPL49","entity_type":"gene"},{"created":"2025-05-12T17:04:52.327448+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.973","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPL49: Changed phenotypes: Combined oxidative phosphorylation deficiency 60, MIM# 621195","entity_name":"MRPL49","entity_type":"gene"},{"created":"2025-05-12T17:04:38.355277+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2590","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPL49 were changed from Mitochondrial disease, MONDO:0044970, MRPL49-related to Combined oxidative phosphorylation deficiency 60, MIM# 621195","entity_name":"MRPL49","entity_type":"gene"},{"created":"2025-05-12T17:04:17.526298+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2589","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPL49: Changed phenotypes: Combined oxidative phosphorylation deficiency 60, MIM# 621195","entity_name":"MRPL49","entity_type":"gene"},{"created":"2025-05-12T17:03:29.810520+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IDH3G were changed from X-linked retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa 99, MIM# 301148","entity_name":"IDH3G","entity_type":"gene"},{"created":"2025-05-12T17:03:19.564760+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IDH3G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 99, MIM# 301148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IDH3G","entity_type":"gene"},{"created":"2025-05-12T17:03:01.277117+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2589","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IDH3G were changed from X-linked retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa 99, MIM# 301148","entity_name":"IDH3G","entity_type":"gene"},{"created":"2025-05-12T17:00:37.670890+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2588","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IDH3G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 99, MIM# 301148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IDH3G","entity_type":"gene"},{"created":"2025-05-12T16:47:34.216219+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.141","user_name":"Boris Keren","item_type":"entity","text":"changed review comment from: 7/28 patients had intellectual disability in Calpena et al. (PMID: 32499606). \nSources: Literature; to: 7/28 patients had intellectual disability in Calpena et al. (PMID: 32499606) and 11/15 had neurodevelopmental delay in Timberlake et al. (PMID: 27606499)\r\nSources: Literature","entity_name":"SMAD6","entity_type":"gene"},{"created":"2025-05-12T16:40:19.040973+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.141","user_name":"Boris Keren","item_type":"entity","text":"gene: SMAD6 was added\ngene: SMAD6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD6 were set to PMID: 32499606\nPenetrance for gene: SMAD6 were set to Incomplete\nReview for gene: SMAD6 was set to GREEN\nAdded comment: 7/28 patients had intellectual disability in Calpena et al. (PMID: 32499606). \nSources: Literature","entity_name":"SMAD6","entity_type":"gene"},{"created":"2025-05-12T14:38:53.342906+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2588","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18651971, 9158146, 9758606, 9915946, 22161967; Phenotypes: alpha-mannosidosis MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2025-05-12T14:16:10.767918+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2588","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: LYST: Changed publications: 8896560, 9215680, 31906877, 9215679, 26499269, 24112114, 28145517","entity_name":"LYST","entity_type":"gene"},{"created":"2025-05-12T14:15:56.401223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2588","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896560, 9215680, 31906877, 9215679, 26499269, 24112114, 28145517); Phenotypes: Chediak-Higashi syndrome MONDO:0008963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LYST","entity_type":"gene"},{"created":"2025-05-12T13:56:33.145117+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2588","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24014394, 26912632; Phenotypes: mitochondrial disease, LYRM7-related MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LYRM7","entity_type":"gene"},{"created":"2025-05-12T13:31:35.156191+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2588","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: LPAR6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297072, 18297070, 18461368; Phenotypes: LPAR6-related hypotrichosis/woolly hair with or without hypotrichosis, MONDO:MONDO:0800312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LPAR6","entity_type":"gene"},{"created":"2025-05-09T16:57:10.750550+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.854","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: QDPR as ready","entity_name":"QDPR","entity_type":"gene"},{"created":"2025-05-09T16:57:10.740596+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.854","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qdpr has been classified as Green List (High Evidence).","entity_name":"QDPR","entity_type":"gene"},{"created":"2025-05-09T16:57:08.810319+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.854","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: QDPR were changed from Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 to Hyperphenylalaninaemia, BH4-deficient, C, MIM# 261630","entity_name":"QDPR","entity_type":"gene"},{"created":"2025-05-09T16:57:01.543051+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.853","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: QDPR were changed from Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630","entity_name":"QDPR","entity_type":"gene"},{"created":"2025-05-09T16:56:52.074527+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.852","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: QDPR were set to ","entity_name":"QDPR","entity_type":"gene"},{"created":"2025-05-09T16:56:32.098883+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.851","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PUS1 as ready","entity_name":"PUS1","entity_type":"gene"},{"created":"2025-05-09T16:56:32.091735+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.851","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pus1 has been classified as Green List (High Evidence).","entity_name":"PUS1","entity_type":"gene"},{"created":"2025-05-09T16:56:29.833776+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.851","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PUS1 were changed from Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462","entity_name":"PUS1","entity_type":"gene"},{"created":"2025-05-09T16:56:10.872775+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.850","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PUS1 were set to ","entity_name":"PUS1","entity_type":"gene"},{"created":"2025-05-09T16:55:48.957427+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.849","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTS as ready","entity_name":"PTS","entity_type":"gene"},{"created":"2025-05-09T16:55:48.945517+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.849","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pts has been classified as Green List (High Evidence).","entity_name":"PTS","entity_type":"gene"},{"created":"2025-05-09T16:55:46.599638+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.849","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTS were changed from Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; BH4-deficient hyperphenylalaninemia A, MONDO:0009863","entity_name":"PTS","entity_type":"gene"},{"created":"2025-05-09T16:55:35.956486+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.848","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTS were set to ","entity_name":"PTS","entity_type":"gene"},{"created":"2025-05-09T16:55:15.444016+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.847","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSAP as ready","entity_name":"PSAP","entity_type":"gene"},{"created":"2025-05-09T16:55:15.433583+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.847","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psap has been classified as Green List (High Evidence).","entity_name":"PSAP","entity_type":"gene"},{"created":"2025-05-09T16:55:12.875016+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.847","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSAP were changed from Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) to Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900; Combined SAP deficiency, MIM #611721; Gaucher disease, atypical, MIM #610539; Krabbe disease, atypical, MIM #611722","entity_name":"PSAP","entity_type":"gene"},{"created":"2025-05-09T16:55:01.832600+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.846","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PSAP were set to ","entity_name":"PSAP","entity_type":"gene"},{"created":"2025-05-09T16:54:41.371298+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.845","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRPS1 as ready","entity_name":"PRPS1","entity_type":"gene"},{"created":"2025-05-09T16:54:41.358888+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.845","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prps1 has been classified as Green List (High Evidence).","entity_name":"PRPS1","entity_type":"gene"},{"created":"2025-05-09T16:54:38.665327+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.845","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRPS1 were changed from Arts syndrome, 301835 (3) to PRPS1 deficiency disorder MONDO:0100061; Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395","entity_name":"PRPS1","entity_type":"gene"},{"created":"2025-05-09T16:54:17.010210+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.844","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PROP1 as ready","entity_name":"PROP1","entity_type":"gene"},{"created":"2025-05-09T16:54:16.999669+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.844","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prop1 has been classified as Green List (High Evidence).","entity_name":"PROP1","entity_type":"gene"},{"created":"2025-05-09T16:54:14.501388+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.844","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PROP1 were changed from Pituitary hormone deficiency, combined, 2, 262600 (3) to Pituitary hormone deficiency, combined, 2, MIM#262600","entity_name":"PROP1","entity_type":"gene"},{"created":"2025-05-09T16:53:53.249203+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.843","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRF1 as ready","entity_name":"PRF1","entity_type":"gene"},{"created":"2025-05-09T16:53:53.239418+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.843","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prf1 has been classified as Green List (High Evidence).","entity_name":"PRF1","entity_type":"gene"},{"created":"2025-05-09T16:53:51.034886+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.843","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRF1 were changed from Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) to Haemophagocytic lymphohistiocytosis, familial, 2 MIM#603553","entity_name":"PRF1","entity_type":"gene"},{"created":"2025-05-09T16:53:39.629613+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.842","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRF1 were set to ","entity_name":"PRF1","entity_type":"gene"},{"created":"2025-05-09T16:53:14.104143+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.841","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRDM5 as ready","entity_name":"PRDM5","entity_type":"gene"},{"created":"2025-05-09T16:53:14.094286+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.841","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prdm5 has been classified as Green List (High Evidence).","entity_name":"PRDM5","entity_type":"gene"},{"created":"2025-05-09T16:53:11.903098+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.841","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170 (3) to Brittle cornea syndrome 2, MIM#614170","entity_name":"PRDM5","entity_type":"gene"},{"created":"2025-05-09T16:53:00.584580+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.840","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRDM5 were set to ","entity_name":"PRDM5","entity_type":"gene"},{"created":"2025-05-09T16:52:40.468255+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.839","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PQBP1 as ready","entity_name":"PQBP1","entity_type":"gene"},{"created":"2025-05-09T16:52:40.458309+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.839","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pqbp1 has been classified as Green List (High Evidence).","entity_name":"PQBP1","entity_type":"gene"}]}