{"count":220440,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1522","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1520","results":[{"created":"2020-10-29T14:44:34.732234+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.44","user_name":"Sarah Righetti","item_type":"entity","text":"changed review comment from: PMID 17701904: Lod score >9 in large Israeli family, also a second unrelated isolated case. Both families: hom 8bp insertion. Phenotype similar to that of null mice. \r\n\r\nPMID 31752936: Compound het variants identified in 24mo Chinese female patient with a novel multisystem syndrome disorder without congenital contracture\r\n\r\nPMID 28454995: Hom missense in Saudi Arabian individual with lethal congenital contractural syndrome, additional features: dysmorphic features, knee dislocation, bilaterial hip dislocation; to: PMID 17701904: Lod score >9 in large Israeli family, also a second unrelated isolated case. Both families: hom splice variant in intron 10 (IVS10-8A→G) causing fs & premature protein truncation. Fnal studies confirm aberrant splicing. Phenotype similar to that of null mice. \r\n\r\nPMID 31752936: Compound het variants identified in 24mo Chinese female patient with a novel multisystem syndrome disorder without congenital contracture\r\n\r\nPMID 28454995: Hom missense in Saudi Arabian individual with lethal congenital contractural syndrome, additional features: dysmorphic features, knee dislocation, bilaterial hip dislocation","entity_name":"ERBB3","entity_type":"gene"},{"created":"2020-10-29T14:34:22.540722+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.44","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: IL10RB as ready","entity_name":"IL10RB","entity_type":"gene"},{"created":"2020-10-29T14:34:22.531925+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.44","user_name":"Seb Lunke","item_type":"entity","text":"Gene: il10rb has been classified as Green List (High Evidence).","entity_name":"IL10RB","entity_type":"gene"},{"created":"2020-10-29T14:34:14.218430+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.44","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: IL10RB as Green List (high evidence)","entity_name":"IL10RB","entity_type":"gene"},{"created":"2020-10-29T14:34:14.205412+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.44","user_name":"Seb Lunke","item_type":"entity","text":"Gene: il10rb has been classified as Green List (High Evidence).","entity_name":"IL10RB","entity_type":"gene"},{"created":"2020-10-29T14:27:34.796779+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.43","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: PRKRA as ready","entity_name":"PRKRA","entity_type":"gene"},{"created":"2020-10-29T14:27:34.786041+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.43","user_name":"Seb Lunke","item_type":"entity","text":"Gene: prkra has been classified as Green List (High Evidence).","entity_name":"PRKRA","entity_type":"gene"},{"created":"2020-10-29T14:27:30.099347+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.43","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: PRKRA as Green List (high evidence)","entity_name":"PRKRA","entity_type":"gene"},{"created":"2020-10-29T14:27:30.090994+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.43","user_name":"Seb Lunke","item_type":"entity","text":"Gene: prkra has been classified as Green List (High Evidence).","entity_name":"PRKRA","entity_type":"gene"},{"created":"2020-10-29T14:26:17.407938+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.42","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: MSTO1 as ready","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-10-29T14:26:17.397759+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.42","user_name":"Seb Lunke","item_type":"entity","text":"Gene: msto1 has been classified as Green List (High Evidence).","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-10-29T14:26:14.247144+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.42","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: MSTO1 as Green List (high evidence)","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-10-29T14:26:14.239231+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.42","user_name":"Seb Lunke","item_type":"entity","text":"Gene: msto1 has been classified as Green List (High Evidence).","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-10-29T14:23:42.730140+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.41","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: XPNPEP3 as ready","entity_name":"XPNPEP3","entity_type":"gene"},{"created":"2020-10-29T14:23:42.711688+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.41","user_name":"Seb Lunke","item_type":"entity","text":"Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).","entity_name":"XPNPEP3","entity_type":"gene"},{"created":"2020-10-29T14:23:38.410697+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.41","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: XPNPEP3 as Amber List (moderate evidence)","entity_name":"XPNPEP3","entity_type":"gene"},{"created":"2020-10-29T14:23:38.395208+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.41","user_name":"Seb Lunke","item_type":"entity","text":"Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).","entity_name":"XPNPEP3","entity_type":"gene"},{"created":"2020-10-29T14:23:06.357191+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.40","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: UQCRC2 as ready","entity_name":"UQCRC2","entity_type":"gene"},{"created":"2020-10-29T14:23:06.346265+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.40","user_name":"Seb Lunke","item_type":"entity","text":"Gene: uqcrc2 has been classified as Red List (Low Evidence).","entity_name":"UQCRC2","entity_type":"gene"},{"created":"2020-10-29T14:23:00.734217+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.40","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: UQCRC2 as Red List (low evidence)","entity_name":"UQCRC2","entity_type":"gene"},{"created":"2020-10-29T14:23:00.730625+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.40","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Single variant only, borderline amber for dx, red for screening.","entity_name":"UQCRC2","entity_type":"gene"},{"created":"2020-10-29T14:23:00.704365+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.40","user_name":"Seb Lunke","item_type":"entity","text":"Gene: uqcrc2 has been classified as Red List (Low Evidence).","entity_name":"UQCRC2","entity_type":"gene"},{"created":"2020-10-29T14:21:32.010833+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.39","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: PPIB as ready","entity_name":"PPIB","entity_type":"gene"},{"created":"2020-10-29T14:21:32.000074+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.39","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ppib has been classified as Green List (High Evidence).","entity_name":"PPIB","entity_type":"gene"},{"created":"2020-10-29T14:21:25.559573+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.39","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: PPIB as Green List (high evidence)","entity_name":"PPIB","entity_type":"gene"},{"created":"2020-10-29T14:21:25.548914+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.39","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ppib has been classified as Green List (High Evidence).","entity_name":"PPIB","entity_type":"gene"},{"created":"2020-10-29T14:20:48.711254+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.38","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: GALT as Green List (high evidence)","entity_name":"GALT","entity_type":"gene"},{"created":"2020-10-29T14:20:48.700089+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.38","user_name":"Seb Lunke","item_type":"entity","text":"Gene: galt has been classified as Green List (High Evidence).","entity_name":"GALT","entity_type":"gene"},{"created":"2020-10-29T14:17:25.778545+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.37","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: TUBA8 as ready","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-10-29T14:17:25.766949+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.37","user_name":"Seb Lunke","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-10-29T14:17:21.106027+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.37","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: TUBA8 as Red List (low evidence)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-10-29T14:17:21.095138+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.37","user_name":"Seb Lunke","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-10-29T14:16:50.741765+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.36","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SPEG as Green List (high evidence)","entity_name":"SPEG","entity_type":"gene"},{"created":"2020-10-29T14:16:50.737995+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.36","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Agreed green gene, update gene selection committee at next meeting.","entity_name":"SPEG","entity_type":"gene"},{"created":"2020-10-29T14:16:50.710177+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.36","user_name":"Seb Lunke","item_type":"entity","text":"Gene: speg has been classified as Green List (High Evidence).","entity_name":"SPEG","entity_type":"gene"},{"created":"2020-10-29T14:14:50.387637+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.35","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: TSPYL1 as ready","entity_name":"TSPYL1","entity_type":"gene"},{"created":"2020-10-29T14:14:50.377313+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.35","user_name":"Seb Lunke","item_type":"entity","text":"Gene: tspyl1 has been classified as Red List (Low Evidence).","entity_name":"TSPYL1","entity_type":"gene"},{"created":"2020-10-29T14:12:59.664370+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.35","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: TSPYL1 as Red List (low evidence)","entity_name":"TSPYL1","entity_type":"gene"},{"created":"2020-10-29T14:12:59.661208+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.35","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Agreed amber in diagnostic, but for screening test would need a fair bit of extra evidence.","entity_name":"TSPYL1","entity_type":"gene"},{"created":"2020-10-29T14:12:59.626050+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.35","user_name":"Seb Lunke","item_type":"entity","text":"Gene: tspyl1 has been classified as Red List (Low Evidence).","entity_name":"TSPYL1","entity_type":"gene"},{"created":"2020-10-29T14:10:36.987650+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.34","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: PIP5K1C as ready","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-10-29T14:10:36.972119+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.34","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pip5k1c has been classified as Red List (Low Evidence).","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-10-29T14:10:30.999950+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.34","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: PIP5K1C as Red List (low evidence)","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-10-29T14:10:30.994952+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.34","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Agreed amber in diagnostic, but for screening test would need a fair bit of extra evidence.","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-10-29T14:10:30.952942+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.34","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pip5k1c has been classified as Red List (Low Evidence).","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2020-10-29T14:09:30.719832+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.33","user_name":"Sarah Righetti","item_type":"entity","text":"gene: VAC14 was added\ngene: VAC14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VAC14 were set to 27292112; 31392254; 31591492; 31387860; 31876398\nPhenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset, MIM#617054\nReview for gene: VAC14 was set to GREEN\nAdded comment: Multiple reports in unrelated patients \nSources: Expert Review","entity_name":"VAC14","entity_type":"gene"},{"created":"2020-10-29T14:08:32.951070+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.33","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: AFF2 as ready","entity_name":"AFF2","entity_type":"gene"},{"created":"2020-10-29T14:08:32.938644+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.33","user_name":"Seb Lunke","item_type":"entity","text":"Gene: aff2 has been classified as Red List (Low Evidence).","entity_name":"AFF2","entity_type":"gene"},{"created":"2020-10-29T14:08:25.600030+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.33","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: AFF2 as Red List (low evidence)","entity_name":"AFF2","entity_type":"gene"},{"created":"2020-10-29T14:08:25.589000+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.33","user_name":"Seb Lunke","item_type":"entity","text":"Gene: aff2 has been classified as Red List (Low Evidence).","entity_name":"AFF2","entity_type":"gene"},{"created":"2020-10-29T14:01:48.957248+11:00","panel_name":"Myopathy Superpanel","panel_id":3101,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-10-29T12:41:37.557045+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"gene: PRKRA was added\ngene: PRKRA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKRA were set to 29279192; 25142429\nPhenotypes for gene: PRKRA were set to Dystonia 16, MIM#612067\nReview for gene: PRKRA was set to GREEN\nAdded comment: Sufficient reports - most common variant is c.665C>T p.Pro222Leu, rs121434410\r\n\r\nPMID 29279192 (2017)- 7 patients in Brazilian cohort - most homozygous for P222L\r\nPMID 2514249: (2014) - 2 Polish sibs - hom for P222L \nSources: Expert Review","entity_name":"PRKRA","entity_type":"gene"},{"created":"2020-10-29T12:31:12.434106+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"gene: MSTO1 was added\ngene: MSTO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSTO1 were set to 31463572; 30684668\nPhenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM#617675\nReview for gene: MSTO1 was set to GREEN\nAdded comment: PMID 31463572: 12 patients\r\nPMID 30684668: 2 sibs - compound het fs and missense. \nSources: Expert Review","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-10-29T12:26:03.861923+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"changed review comment from: Sufficient patients reported (note protein encoded by IL10RB is IL10R2)\r\n\r\n19890111: 2 affected sibs with hom stop-gain.\r\n22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity) - likely to be other factors which contribute to phenotype.\r\n\r\nSevere phenotype.; to: Sufficient patients reported (note protein encoded by IL10RB is IL10R2)\r\n\r\n19890111: 2 affected sibs with hom stop-gain.\r\n22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity - likely to be other factors which contribute to phenotype.\r\n\r\nSevere phenotype.","entity_name":"IL10RB","entity_type":"gene"},{"created":"2020-10-29T12:25:42.945895+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"Deleted their comment","entity_name":"IL10RB","entity_type":"gene"},{"created":"2020-10-29T12:25:36.125232+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"commented on gene: IL10RB: Sufficient patients reported (note protein encoded by IL10RB is IL10R2)\r\n\r\n19890111: 2 affected sibs with hom stop-gain.\r\n22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity) - likely to be other factors which contribute to phenotype.\r\n\r\nSevere phenotype.","entity_name":"IL10RB","entity_type":"gene"},{"created":"2020-10-29T12:25:22.532880+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 22549091; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM#612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL10RB","entity_type":"gene"},{"created":"2020-10-29T12:13:57.672919+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"Deleted their review","entity_name":"IL10RB","entity_type":"gene"},{"created":"2020-10-29T11:52:19.555834+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"gene: IL10RB was added\ngene: IL10RB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL10RB were set to 22549091\nPhenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, #MIM612657\nReview for gene: IL10RB was set to GREEN\nAdded comment: Sources: Expert Review","entity_name":"IL10RB","entity_type":"gene"},{"created":"2020-10-29T11:48:19.763892+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20179356, 32660933; Phenotypes: Nephronophthisis-like nephropathy 1, MIM# 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPNPEP3","entity_type":"gene"},{"created":"2020-10-29T11:31:57.284674+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UQCRC2","entity_type":"gene"},{"created":"2020-10-29T11:29:45.735065+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"changed review comment from: Sources: Expert Review; to: >10 cases across multiple reports, severe phenotype","entity_name":"PPIB","entity_type":"gene"},{"created":"2020-10-29T11:28:03.357265+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.32","user_name":"Sarah Righetti","item_type":"entity","text":"gene: PPIB was added\ngene: PPIB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, #259440\nReview for gene: PPIB was set to GREEN\nAdded comment: Sources: Expert Review","entity_name":"PPIB","entity_type":"gene"},{"created":"2020-10-29T08:36:10.890607+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5165","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHOX2A were set to 11600883; 18323871","entity_name":"PHOX2A","entity_type":"gene"},{"created":"2020-10-29T08:35:44.919882+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5164","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PHOX2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16815872; Phenotypes: Fibrosis of extraocular muscles, congenital, 2 602078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHOX2A","entity_type":"gene"},{"created":"2020-10-29T08:33:04.613077+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5164","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHOX2A as Green List (high evidence)","entity_name":"PHOX2A","entity_type":"gene"},{"created":"2020-10-29T08:33:04.602448+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phox2a has been classified as Green List (High Evidence).","entity_name":"PHOX2A","entity_type":"gene"},{"created":"2020-10-29T08:30:53.506672+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL25A1 as ready","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:30:53.498632+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col25a1 has been classified as Amber List (Moderate Evidence).","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:30:36.679077+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL25A1 were changed from  to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:30:10.260981+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5162","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL25A1 were set to ","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:29:41.230785+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5161","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:29:02.457267+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5160","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL25A1 as Amber List (moderate evidence)","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:29:02.440954+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col25a1 has been classified as Amber List (Moderate Evidence).","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:28:40.915992+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5159","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25500261, 26486031; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, MIM# 616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:27:07.387587+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL25A1 as ready","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:27:07.370112+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col25a1 has been classified as Amber List (Moderate Evidence).","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:27:03.821728+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL25A1 were changed from Fibrosis of extraocular muscles, congenital, 5; Fibrosis of extraocular muscles, congenital, 5 616219 to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:26:50.718506+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL25A1 were set to 25500261","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-29T08:23:55.418348+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5159","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF21A as ready","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-29T08:23:55.409149+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-29T08:23:11.369642+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5159","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF21A were changed from  to Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-29T08:22:48.521052+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5158","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF21A were set to ","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-29T08:22:25.982415+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5157","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KIF21A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-29T08:22:04.701094+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5156","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15621876, 15223798, 15621877, 18332320, 28930843, 27513105, 26190014, 24656932; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-29T08:20:12.062334+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF21A as ready","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-29T08:20:12.053731+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-29T08:20:08.857587+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1, MIM# 135700 to Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-29T08:19:13.885600+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1 135700; Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 3B 135700 to Fibrosis of extraocular muscles, congenital, 1, MIM# 135700","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-29T08:18:58.737325+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF21A were set to 15621876; 15223798; 15621877; 18332320","entity_name":"KIF21A","entity_type":"gene"},{"created":"2020-10-29T08:18:26.187033+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHOX2A as ready","entity_name":"PHOX2A","entity_type":"gene"},{"created":"2020-10-29T08:18:26.172006+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phox2a has been classified as Green List (High Evidence).","entity_name":"PHOX2A","entity_type":"gene"},{"created":"2020-10-29T08:18:23.307607+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHOX2A were changed from Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2 to Fibrosis of extraocular muscles, congenital, 2, MIM# 602078","entity_name":"PHOX2A","entity_type":"gene"},{"created":"2020-10-29T08:18:11.407759+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHOX2A were set to 14597037; 22311481; 11600883","entity_name":"PHOX2A","entity_type":"gene"},{"created":"2020-10-29T08:15:29.275020+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB3 as ready","entity_name":"TUBB3","entity_type":"gene"},{"created":"2020-10-29T08:15:29.266806+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.1","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":"2020-10-29T08:15:22.074490+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBB3 were set to 27428177; 20074521","entity_name":"TUBB3","entity_type":"gene"},{"created":"2020-10-29T08:15:03.752909+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB3","entity_type":"gene"},{"created":"2020-10-29T00:05:20.632934+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Shannon LeBlanc","item_type":"entity","text":"reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: None; Publications: OMID: 25500261, 26486031; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, 610004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL25A1","entity_type":"gene"},{"created":"2020-10-28T23:47:24.711294+11:00","panel_name":"Congenital fibrosis of the extraocular muscles","panel_id":3379,"panel_version":"0.0","user_name":"Shannon LeBlanc","item_type":"entity","text":"reviewed gene: PHOX2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11600883, 14597037, 16815872; Phenotypes: Fibrosis of extraocular muscles, congenital, 2, 602078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHOX2A","entity_type":"gene"}]}