{"count":220917,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=204","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=202","results":[{"created":"2025-07-01T16:35:25.380100+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2667","user_name":"Ava Stevenson","item_type":"entity","text":"reviewed gene: ADD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34906466; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADD1","entity_type":"gene"},{"created":"2025-07-01T15:41:03.061580+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.447","user_name":"Lucy Spencer","item_type":"entity","text":"gene: SMARCC1 was added\ngene: SMARCC1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMARCC1 were set to 38128548\nPhenotypes for gene: SMARCC1 were set to SMARCC1-associated developmental dysgenesis syndrome (MONDO:0700123)\nReview for gene: SMARCC1 was set to GREEN\nAdded comment: Phenotype expansion since original literature. Clingen: \"SMARCC1-associated developmental dysgenesis syndrome is characterized by developmental delay, cerebral ventriculomegaly, aqueductal stenosis, and other associated structural brain and cardiac defects.\"\r\n\r\nPMID: 38128548 : 9/10 patients had cardiac defects including atrial septal defect, ventricular septal defect, double outlet right ventricle and cardiac hypoplasia. \nSources: Literature","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2025-07-01T15:33:00.106475+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.176","user_name":"Gemma Edwards","item_type":"entity","text":"gene: SMARCC1 was added\ngene: SMARCC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCC1 were set to 29983323; 37285932\nPhenotypes for gene: SMARCC1 were set to SMARCC1-associated developmental dysgenesis syndrome (MONDO:0700123)\nReview for gene: SMARCC1 was set to GREEN\nAdded comment: Phenotype expansion since original literature. ClinGen - \"SMARCC1-associated developmental dysgenesis syndrome is characterized by developmental delay, cerebral ventriculomegaly, aqueductal stenosis, and other associated structural brain and cardiac defects\". See cases in PMIDs 29983323, 37285932. \nSources: Literature","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2025-07-01T11:57:59.227143+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.88","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ABCC6 as Amber List (moderate evidence)","entity_name":"ABCC6","entity_type":"gene"},{"created":"2025-07-01T11:57:59.213442+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.88","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: abcc6 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCC6","entity_type":"gene"},{"created":"2025-07-01T11:57:38.573636+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.87","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23968982, 20301292; Phenotypes: autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCC6","entity_type":"gene"},{"created":"2025-06-30T11:01:32.572957+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.372","user_name":"Ava Stevenson","item_type":"entity","text":"reviewed gene: MIB1: Rating: RED; 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: 23033978, 23314057, 33057194, 30322850, 37405741, 39057643; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MIB1","entity_type":"gene"},{"created":"2025-06-30T11:01:09.271420+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.447","user_name":"Ava Stevenson","item_type":"entity","text":"reviewed gene: MIB1: Rating: RED; 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: 23033978, 23314057, 33057194, 30322850, 37405741, 39057643; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MIB1","entity_type":"gene"},{"created":"2025-06-30T10:59:16.586548+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2667","user_name":"Ava Stevenson","item_type":"entity","text":"reviewed gene: MIB1: Rating: RED; 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: 23033978, 23314057, 33057194, 30322850, 37405741, 39057643; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MIB1","entity_type":"gene"},{"created":"2025-06-28T01:46:13.953003+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2667","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C10orf71: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1QQ, MIM# 621251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"C10orf71","entity_type":"gene"},{"created":"2025-06-28T01:45:53.331917+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C10orf71 were changed from dilated cardiomyopathy MONDO:0005021 to Cardiomyopathy, dilated, 1QQ, MIM# 621251","entity_name":"C10orf71","entity_type":"gene"},{"created":"2025-06-28T01:45:24.092705+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C10orf71: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1QQ, MIM# 621251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"C10orf71","entity_type":"gene"},{"created":"2025-06-28T01:42:35.535377+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD274 as ready","entity_name":"CD274","entity_type":"gene"},{"created":"2025-06-28T01:42:35.525291+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd274 has been classified as Amber List (Moderate Evidence).","entity_name":"CD274","entity_type":"gene"},{"created":"2025-06-28T01:42:22.859038+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD274 as Amber List (moderate evidence)","entity_name":"CD274","entity_type":"gene"},{"created":"2025-06-28T01:42:22.851987+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd274 has been classified as Amber List (Moderate Evidence).","entity_name":"CD274","entity_type":"gene"},{"created":"2025-06-28T01:41:58.880221+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD274 was added\ngene: CD274 was added to Autoinflammatory Disorders. Sources: Literature\nMode of inheritance for gene: CD274 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD274 were set to 38634869\nPhenotypes for gene: CD274 were set to Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235\nReview for gene: CD274 was set to AMBER\nAdded comment: Two siblings, born to second-degree consanguineous parents of Moroccan descent, both developed neonatal-onset T1D (diagnosed at the ages of 1 day and 7 wk, respectively). One sibling was subsequently diagnosed with asthma at the age of 5 mo, auto-immune hypothyroidism at the age of 3 years, and growth hormone (GH) deficiency at the age of 10 years. He also had mild intellectual disability with delayed language development. By contrast, his sister had no clinical manifestations other than T1D.\r\n\r\nHomozygous for splicing variant. This is the ligand of PD1, deficiency of which is also linked to immune dysregulation. Functional data. \nSources: Literature","entity_name":"CD274","entity_type":"gene"},{"created":"2025-06-28T01:39:58.146893+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD274 were changed from Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790 to Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235","entity_name":"CD274","entity_type":"gene"},{"created":"2025-06-28T01:39:29.304014+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD274: Changed phenotypes: Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235","entity_name":"CD274","entity_type":"gene"},{"created":"2025-06-28T01:38:55.618520+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2667","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD274 were changed from Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790 to Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235","entity_name":"CD274","entity_type":"gene"},{"created":"2025-06-28T01:38:23.586700+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2666","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD274: Changed phenotypes: Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235","entity_name":"CD274","entity_type":"gene"},{"created":"2025-06-28T00:36:21.843932+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.4","user_name":"Katrina Stone","item_type":"entity","text":"changed review comment from: Summary: classic presentation neonatal onset seizures which respond to pyridoxine but are not well controlled with antiepileptics. Later onset of seizures has been reported.\r\nDespite seizure control most patients have developmental delay/Intellectual disability\r\n\r\nConfirmatory test: alpha-aminoadipic semialdehyde (α-AASA) in urine and/or plasma (elevated)\r\nPipecolic acid\r\nΔ1-piperideine-6-carboxylate (Δ1-P6C)\r\n\r\nIntervention: Pyridoxine for seizure control.\r\nFrom consensus guideline: To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy\r\n\r\nAdditional information\r\nIncidence: 1:65 000 to 1:250 000 live births\r\nOnset of seizures can be outside the neonatal period\r\n\r\nConsensus guideline: PMID: 33200442 \nSources: Other; to: Well established gene disease association\r\nClinGen: strong actionability in paediatric patients\r\n\r\nSummary: classic presentation neonatal onset seizures which respond to pyridoxine but are not well controlled with antiepileptics. Later onset of seizures has been reported.\r\nDespite seizure control most patients have developmental delay/Intellectual disability\r\n\r\nNon genetic confirmatory tests: alpha-aminoadipic semialdehyde (α-AASA) in urine and/or plasma (elevated)\r\nPipecolic acid\r\nΔ1-piperideine-6-carboxylate (Δ1-P6C)\r\n\r\nIntervention: Pyridoxine for seizure control.\r\nFrom consensus guideline: To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy\r\n\r\nAdditional information\r\nIncidence: 1:65 000 to 1:250 000 live births\r\nOnset of seizures can be outside the neonatal period\r\n\r\nConsensus guideline: PMID: 33200442\r\n\r\nIncluded in: \r\n\r\nSources: Other","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2025-06-28T00:26:10.641333+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.4","user_name":"Katrina Stone","item_type":"entity","text":"gene: ALDH7A1 was added\ngene: ALDH7A1 was added to Genomic newborn screening: ICoNS. Sources: Other\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH7A1 were set to PMID: 20301659; 33200442\nPhenotypes for gene: ALDH7A1 were set to Epilepsy, early-onset, 4, vitamin B6-dependent\nPenetrance for gene: ALDH7A1 were set to Complete\nReview for gene: ALDH7A1 was set to GREEN\nAdded comment: Summary: classic presentation neonatal onset seizures which respond to pyridoxine but are not well controlled with antiepileptics. Later onset of seizures has been reported.\r\nDespite seizure control most patients have developmental delay/Intellectual disability\r\n\r\nConfirmatory test: alpha-aminoadipic semialdehyde (α-AASA) in urine and/or plasma (elevated)\r\nPipecolic acid\r\nΔ1-piperideine-6-carboxylate (Δ1-P6C)\r\n\r\nIntervention: Pyridoxine for seizure control.\r\nFrom consensus guideline: To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy\r\n\r\nAdditional information\r\nIncidence: 1:65 000 to 1:250 000 live births\r\nOnset of seizures can be outside the neonatal period\r\n\r\nConsensus guideline: PMID: 33200442 \nSources: Other","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2025-06-27T02:33:22.354363+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GALT as Green List (high evidence)","entity_name":"GALT","entity_type":"gene"},{"created":"2025-06-27T02:33:22.347311+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galt has been classified as Green List (High Evidence).","entity_name":"GALT","entity_type":"gene"},{"created":"2025-06-27T02:33:01.225352+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF216 as ready","entity_name":"RNF216","entity_type":"gene"},{"created":"2025-06-27T02:33:01.217639+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf216 has been classified as Green List (High Evidence).","entity_name":"RNF216","entity_type":"gene"},{"created":"2025-06-27T02:32:55.414798+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF216 as Green List (high evidence)","entity_name":"RNF216","entity_type":"gene"},{"created":"2025-06-27T02:32:55.385896+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf216 has been classified as Green List (High Evidence).","entity_name":"RNF216","entity_type":"gene"},{"created":"2025-06-27T02:32:34.148885+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PABPC1L as ready","entity_name":"PABPC1L","entity_type":"gene"},{"created":"2025-06-27T02:32:34.141912+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pabpc1l has been classified as Green List (High Evidence).","entity_name":"PABPC1L","entity_type":"gene"},{"created":"2025-06-27T02:32:28.690025+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PABPC1L as Green List (high evidence)","entity_name":"PABPC1L","entity_type":"gene"},{"created":"2025-06-27T02:32:28.679871+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pabpc1l has been classified as Green List (High Evidence).","entity_name":"PABPC1L","entity_type":"gene"},{"created":"2025-06-27T02:32:07.537499+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC155 as ready","entity_name":"CCDC155","entity_type":"gene"},{"created":"2025-06-27T02:32:07.530451+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc155 has been classified as Green List (High Evidence).","entity_name":"CCDC155","entity_type":"gene"},{"created":"2025-06-27T02:32:01.795949+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC155 as Green List (high evidence)","entity_name":"CCDC155","entity_type":"gene"},{"created":"2025-06-27T02:32:01.788448+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc155 has been classified as Green List (High Evidence).","entity_name":"CCDC155","entity_type":"gene"},{"created":"2025-06-27T02:31:54.119617+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CCDC155.","entity_name":"CCDC155","entity_type":"gene"},{"created":"2025-06-27T02:31:30.074168+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TWNK as ready","entity_name":"TWNK","entity_type":"gene"},{"created":"2025-06-27T02:31:30.059912+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.143","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":"2025-06-27T02:31:25.250716+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TWNK as Green List (high evidence)","entity_name":"TWNK","entity_type":"gene"},{"created":"2025-06-27T02:31:25.241488+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.143","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":"2025-06-27T02:31:07.590280+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF8 as ready","entity_name":"FGF8","entity_type":"gene"},{"created":"2025-06-27T02:31:07.583029+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf8 has been classified as Green List (High Evidence).","entity_name":"FGF8","entity_type":"gene"},{"created":"2025-06-27T02:31:02.059296+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGF8 as Green List (high evidence)","entity_name":"FGF8","entity_type":"gene"},{"created":"2025-06-27T02:31:02.049434+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf8 has been classified as Green List (High Evidence).","entity_name":"FGF8","entity_type":"gene"},{"created":"2025-06-27T02:30:41.436111+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STIL as ready","entity_name":"STIL","entity_type":"gene"},{"created":"2025-06-27T02:30:41.429844+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stil has been classified as Red List (Low Evidence).","entity_name":"STIL","entity_type":"gene"},{"created":"2025-06-27T02:30:38.404270+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STIL were changed from Recurrent pregnancy loss susceptibility, MONDO:0000144; Primary microcephaly 7, autosomal recessive, MIM# 612703 to Primary microcephaly 7, autosomal recessive, MIM# 612703","entity_name":"STIL","entity_type":"gene"},{"created":"2025-06-27T02:30:25.357347+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STIL as Red List (low evidence)","entity_name":"STIL","entity_type":"gene"},{"created":"2025-06-27T02:30:25.347407+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stil has been classified as Red List (Low Evidence).","entity_name":"STIL","entity_type":"gene"},{"created":"2025-06-27T02:30:03.798079+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STIL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"STIL","entity_type":"gene"},{"created":"2025-06-27T02:29:16.623291+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"KIF14","entity_type":"gene"},{"created":"2025-06-27T02:28:14.458693+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KISS1R as ready","entity_name":"KISS1R","entity_type":"gene"},{"created":"2025-06-27T02:28:14.451407+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiss1r has been classified as Green List (High Evidence).","entity_name":"KISS1R","entity_type":"gene"},{"created":"2025-06-27T02:28:09.163653+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KISS1R as Green List (high evidence)","entity_name":"KISS1R","entity_type":"gene"},{"created":"2025-06-27T02:28:09.154145+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiss1r has been classified as Green List (High Evidence).","entity_name":"KISS1R","entity_type":"gene"},{"created":"2025-06-27T02:27:47.051623+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC25A as ready","entity_name":"CDC25A","entity_type":"gene"},{"created":"2025-06-27T02:27:47.045347+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc25a has been classified as Green List (High Evidence).","entity_name":"CDC25A","entity_type":"gene"},{"created":"2025-06-27T02:27:39.061921+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDC25A were changed from Spermatogenic failure to Spermatogenic failure, MONDO:0004983, CDC25A-related","entity_name":"CDC25A","entity_type":"gene"},{"created":"2025-06-27T02:27:18.456277+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDC25A as Green List (high evidence)","entity_name":"CDC25A","entity_type":"gene"},{"created":"2025-06-27T02:27:18.449182+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc25a has been classified as Green List (High Evidence).","entity_name":"CDC25A","entity_type":"gene"},{"created":"2025-06-27T02:26:33.161051+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNRHR as ready","entity_name":"GNRHR","entity_type":"gene"},{"created":"2025-06-27T02:26:33.153810+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnrhr has been classified as Green List (High Evidence).","entity_name":"GNRHR","entity_type":"gene"},{"created":"2025-06-27T02:26:24.608186+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNRHR as Green List (high evidence)","entity_name":"GNRHR","entity_type":"gene"},{"created":"2025-06-27T02:26:24.597989+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnrhr has been classified as Green List (High Evidence).","entity_name":"GNRHR","entity_type":"gene"},{"created":"2025-06-27T02:26:07.580095+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PREPL as ready","entity_name":"PREPL","entity_type":"gene"},{"created":"2025-06-27T02:26:07.573273+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prepl has been classified as Green List (High Evidence).","entity_name":"PREPL","entity_type":"gene"},{"created":"2025-06-27T02:26:03.453922+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PREPL were changed from Hypergonadotropic hypogonadism to Myasthenic syndrome, congenital, 22, MIM#\t616224; Hypergonadotropic hypogonadism","entity_name":"PREPL","entity_type":"gene"},{"created":"2025-06-27T02:23:18.813859+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PREPL as Green List (high evidence)","entity_name":"PREPL","entity_type":"gene"},{"created":"2025-06-27T02:23:18.801591+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prepl has been classified as Green List (High Evidence).","entity_name":"PREPL","entity_type":"gene"},{"created":"2025-06-27T02:23:00.467614+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPEF2 as ready","entity_name":"SPEF2","entity_type":"gene"},{"created":"2025-06-27T02:23:00.457603+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spef2 has been classified as Green List (High Evidence).","entity_name":"SPEF2","entity_type":"gene"},{"created":"2025-06-27T02:22:55.225413+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPEF2 as Green List (high evidence)","entity_name":"SPEF2","entity_type":"gene"},{"created":"2025-06-27T02:22:55.218439+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spef2 has been classified as Green List (High Evidence).","entity_name":"SPEF2","entity_type":"gene"},{"created":"2025-06-27T02:22:30.051850+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDCD2 as ready","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:22:30.040971+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd2 has been classified as Red List (Low Evidence).","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:22:25.077129+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDCD2 as Red List (low evidence)","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:22:25.069255+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd2 has been classified as Red List (Low Evidence).","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:21:51.808633+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2666","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDCD2 as ready","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:21:51.801920+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2666","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:21:43.205556+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2666","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDCD2 as Amber List (moderate evidence)","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:21:43.198908+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2666","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:21:19.283378+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2665","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDCD2 was added\ngene: PDCD2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCD2 were set to 40208938\nPhenotypes for gene: PDCD2 were set to Non-immune hydrops fetalis, MONDO:0009369, PDCD2-related\nReview for gene: PDCD2 was set to AMBER\nAdded comment: PMID: 40208938- Novel biallelic PDCD2 variants associated with hydrops fetalis and early pregnancy loss in two affected families. Family 1 with RPL had three fetuses with NIHF who were all homozygous for p.(Pro28Ser) in PDCD2, while Family 2 had p.(Pro28Ser) in trans with p.(Arg34Pro) in two fetuses with NIHF. Family 2 was additionally notable for having a healthy child who was homozygous for the reference allele, consistent with appropriate disease segregation with the PDCD2 variants. Functional studies using primary fetal fibroblasts and human cell lines for both variants showed reduced PDCD2 mRNA level in affected patients' fibroblasts, reduced cellular accumulation of mutant proteins with impaired ability to associate with the 40S subunit ribosomal protein uS5, and further depletion of PDCD2 in fibroblast cells severely impacted ribosome biogenesis. It is notable that formation of the PDCD2-uS5 complex was not completely abolished by the patient variants and that rRNA processing was only partially impaired, as indicated by levels of 40S pre-rRNAs. We thus suspect that the PDCD2 pathogenic variants p.(Pro28Ser) and p.(Arg34Pro) are hypomorphic alleles, with a low level of residual function allowing for cellular differentiation and growth to a certain extent. \nSources: Literature","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:19:59.058161+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDCD2 as ready","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:19:59.051680+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:19:52.505322+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDCD2 as Amber List (moderate evidence)","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:19:52.498215+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:19:40.032019+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.371","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDCD2 was added\ngene: PDCD2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PDCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCD2 were set to 40208938\nPhenotypes for gene: PDCD2 were set to Non-immune hydrops fetalis, MONDO:0009369, PDCD2-related\nReview for gene: PDCD2 was set to AMBER\nAdded comment: PMID: 40208938- Novel biallelic PDCD2 variants associated with hydrops fetalis and early pregnancy loss in two affected families. Family 1 with RPL had three fetuses with NIHF who were all homozygous for p.(Pro28Ser) in PDCD2, while Family 2 had p.(Pro28Ser) in trans with p.(Arg34Pro) in two fetuses with NIHF. Family 2 was additionally notable for having a healthy child who was homozygous for the reference allele, consistent with appropriate disease segregation with the PDCD2 variants. Functional studies using primary fetal fibroblasts and human cell lines for both variants showed reduced PDCD2 mRNA level in affected patients' fibroblasts, reduced cellular accumulation of mutant proteins with impaired ability to associate with the 40S subunit ribosomal protein uS5, and further depletion of PDCD2 in fibroblast cells severely impacted ribosome biogenesis. It is notable that formation of the PDCD2-uS5 complex was not completely abolished by the patient variants and that rRNA processing was only partially impaired, as indicated by levels of 40S pre-rRNAs. We thus suspect that the PDCD2 pathogenic variants p.(Pro28Ser) and p.(Arg34Pro) are hypomorphic alleles, with a low level of residual function allowing for cellular differentiation and growth to a certain extent. \nSources: Literature","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:18:19.900606+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDCD2 as ready","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:18:19.891488+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:18:14.340291+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDCD2 as Amber List (moderate evidence)","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:18:14.333325+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:17:50.464749+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDCD2 was added\ngene: PDCD2 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: PDCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCD2 were set to 40208938\nPhenotypes for gene: PDCD2 were set to Non-immune hydrops fetalis, MONDO:0009369, PDCD2-related\nReview for gene: PDCD2 was set to AMBER\nAdded comment: PMID: 40208938- Novel biallelic PDCD2 variants associated with hydrops fetalis and early pregnancy loss in two affected families. Family 1 with RPL had three fetuses with NIHF who were all homozygous for p.(Pro28Ser) in PDCD2, while Family 2 had p.(Pro28Ser) in trans with p.(Arg34Pro) in two fetuses with NIHF. Family 2 was additionally notable for having a healthy child who was homozygous for the reference allele, consistent with appropriate disease segregation with the PDCD2 variants. Functional studies using primary fetal fibroblasts and human cell lines for both variants showed reduced PDCD2 mRNA level in affected patients' fibroblasts, reduced cellular accumulation of mutant proteins with impaired ability to associate with the 40S subunit ribosomal protein uS5, and further depletion of PDCD2 in fibroblast cells severely impacted ribosome biogenesis. It is notable that formation of the PDCD2-uS5 complex was not completely abolished by the patient variants and that rRNA processing was only partially impaired, as indicated by levels of 40S pre-rRNAs. We thus suspect that the PDCD2 pathogenic variants p.(Pro28Ser) and p.(Arg34Pro) are hypomorphic alleles, with a low level of residual function allowing for cellular differentiation and growth to a certain extent. \nSources: Literature","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:16:03.119336+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDCD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"PDCD2","entity_type":"gene"},{"created":"2025-06-27T02:13:08.543586+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RXFP2 as ready","entity_name":"RXFP2","entity_type":"gene"},{"created":"2025-06-27T02:13:08.536765+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rxfp2 has been classified as Green List (High Evidence).","entity_name":"RXFP2","entity_type":"gene"},{"created":"2025-06-27T02:13:04.540129+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RXFP2 were changed from  to Spermatogenic failure, MONDO:0004983, RXFP2-related","entity_name":"RXFP2","entity_type":"gene"},{"created":"2025-06-27T02:12:00.622164+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RXFP2 as Green List (high evidence)","entity_name":"RXFP2","entity_type":"gene"},{"created":"2025-06-27T02:12:00.612358+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rxfp2 has been classified as Green List (High Evidence).","entity_name":"RXFP2","entity_type":"gene"}]}