{"count":220212,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1391","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1389","results":[{"created":"2021-03-09T20:52:52.554546+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.531","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CDK5RAP2: Changed phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2021-03-09T20:52:12.457151+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.531","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2021-03-09T17:47:21.522507+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTC37 as ready","entity_name":"TTC37","entity_type":"gene"},{"created":"2021-03-09T17:47:21.514054+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc37 has been classified as Green List (High Evidence).","entity_name":"TTC37","entity_type":"gene"},{"created":"2021-03-09T17:47:18.790548+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTC37 were changed from  to Trichohepatoenteric syndrome 1, MIM#222470; Colitis; Pancolitis; Inflammatory bowel disease-like phenotype; Very Early Onset Inflammatory Bowel Disease","entity_name":"TTC37","entity_type":"gene"},{"created":"2021-03-09T17:46:34.494927+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTC37 were set to ","entity_name":"TTC37","entity_type":"gene"},{"created":"2021-03-09T17:46:05.003568+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC37","entity_type":"gene"},{"created":"2021-03-09T17:45:14.735791+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6643","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UGT2B17 as ready","entity_name":"UGT2B17","entity_type":"gene"},{"created":"2021-03-09T17:45:14.727105+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6643","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugt2b17 has been classified as Red List (Low Evidence).","entity_name":"UGT2B17","entity_type":"gene"},{"created":"2021-03-09T17:45:05.702349+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6643","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UGT2B17 as Red List (low evidence)","entity_name":"UGT2B17","entity_type":"gene"},{"created":"2021-03-09T17:45:05.691241+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6643","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugt2b17 has been classified as Red List (Low Evidence).","entity_name":"UGT2B17","entity_type":"gene"},{"created":"2021-03-09T14:59:33.344974+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.44","user_name":"Lavvina Thiyagarajan","item_type":"entity","text":"reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 29334452, 27302973; Phenotypes: Trichohepatoenteric syndrome 1, Colitis, Pancolitis, Inflammatory bowel disease-like phenotype, Very Early Onset Inflammatory Bowel Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC37","entity_type":"gene"},{"created":"2021-03-09T10:09:00.119147+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6642","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: UGT2B17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"UGT2B17","entity_type":"gene"},{"created":"2021-03-08T14:57:18.574871+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLD1 as ready","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:57:18.561017+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pld1 has been classified as Green List (High Evidence).","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:57:06.924106+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLD1 as Green List (high evidence)","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:57:06.911590+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pld1 has been classified as Green List (High Evidence).","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:56:59.734780+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: PLD1.","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:56:51.461210+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLD1 was added\ngene: PLD1 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLD1 were set to 27799408; 33645542\nPhenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy\nReview for gene: PLD1 was set to GREEN\nAdded comment: PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%). \nSources: Literature","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:55:53.391117+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6642","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy; to: PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%).","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:55:31.356583+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6642","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, MIM#\t212093 to Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:55:09.339722+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6641","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLD1 were set to 27799408","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:54:49.611463+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6640","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLD1 as Green List (high evidence)","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:54:49.596082+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6640","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pld1 has been classified as Green List (High Evidence).","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:54:30.609157+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: PLD1.","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:54:23.148672+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6639","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27799408, 33645542; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:54:05.111360+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, MIM#\t212093 to Cardiac valvular defect, developmental, MIM#\t212093; neonatal cardiomyopathy","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:53:40.954177+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLD1 were set to 27799408","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:53:13.286757+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLD1 as Green List (high evidence)","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:53:13.275837+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pld1 has been classified as Green List (High Evidence).","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T14:52:44.679678+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLD1: Added comment: PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%).; Changed rating: GREEN; Changed publications: 27799408, 33645542; Changed phenotypes: Cardiac valvular defect, developmental, MIM# 212093","entity_name":"PLD1","entity_type":"gene"},{"created":"2021-03-08T08:40:32.443184+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DONSON as ready","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:40:32.430914+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: donson has been classified as Green List (High Evidence).","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:40:28.479098+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DONSON as Green List (high evidence)","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:40:28.468641+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: donson has been classified as Green List (High Evidence).","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:39:59.918834+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DONSON was added\ngene: DONSON was added to Skeletal Dysplasia_Fetal. Sources: Expert Review\nMode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DONSON were set to 28191891; 28630177; 28191891\nPhenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619\nReview for gene: DONSON was set to GREEN\nAdded comment: MISSLA, MIM# 617604 is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly (-2.4 to -10.7 SD), variable short stature (-1.2 SD to -4 SD, although 1 individual had stature of -8.4 SD), and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development. At least 20 unrelated families reported.\r\n\r\nMicrocephaly-micromelia syndrome (MIM#251230), is a more severe disorder that usually results in intrauterine or perinatal death. Multiple affected individuals reported with homozygous c.1047-9A-G variant, from different ethnicities. \nSources: Expert Review","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:38:13.175023+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DONSON as ready","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:38:13.157266+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: donson has been classified as Green List (High Evidence).","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:38:07.675017+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DONSON as Green List (high evidence)","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:38:07.666981+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: donson has been classified as Green List (High Evidence).","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:37:36.574130+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DONSON was added\ngene: DONSON was added to Skeletal dysplasia. Sources: Expert Review\nMode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DONSON were set to 28191891; 28630177; 28191891\nPhenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230\nReview for gene: DONSON was set to GREEN\nAdded comment: MISSLA, MIM# 617604 is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly (-2.4 to -10.7 SD), variable short stature (-1.2 SD to -4 SD, although 1 individual had stature of -8.4 SD), and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development. At least 20 unrelated families reported.\r\n\r\nMicrocephaly-micromelia syndrome (MIM#251230), is a more severe disorder that usually results in intrauterine or perinatal death. Multiple affected individuals reported with homozygous c.1047-9A-G variant, from different ethnicities. \nSources: Expert Review","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:35:51.156052+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6639","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DONSON as ready","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:35:51.143499+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6639","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: donson has been classified as Green List (High Evidence).","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:35:42.321257+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6639","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DONSON were changed from  to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:35:21.631985+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6638","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DONSON were set to ","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:35:01.062433+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6637","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DONSON was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:34:41.152966+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6636","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DONSON: Rating: GREEN; Mode of pathogenicity: None; Publications: 28191891, 28630177, 28191891; Phenotypes: Microcephaly, short stature, and limb abnormalities, MIM# 617604, Microcephaly-micromelia syndrome, MIM# 251230, MONDO:0009619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:33:31.153293+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.531","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DONSON were changed from Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230 to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:32:07.281309+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DONSON as ready","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:32:07.270023+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: donson has been classified as Green List (High Evidence).","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:32:04.290985+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DONSON were changed from  to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:31:34.745541+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DONSON were set to ","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:31:05.063768+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DONSON was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:30:34.878163+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DONSON: Rating: GREEN; Mode of pathogenicity: None; Publications: 28191891, 28630177, 28191891]; Phenotypes: Microcephaly, short stature, and limb abnormalities, MIM# 617604, Microcephaly-micromelia syndrome, MIM# 251230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DONSON","entity_type":"gene"},{"created":"2021-03-08T08:24:06.537846+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATRX as ready","entity_name":"ATRX","entity_type":"gene"},{"created":"2021-03-08T08:24:06.526951+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atrx has been classified as Green List (High Evidence).","entity_name":"ATRX","entity_type":"gene"},{"created":"2021-03-08T08:23:22.480289+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATRX were changed from  to Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580; Alpha-thalassemia/mental retardation syndrome, MIM# 301040","entity_name":"ATRX","entity_type":"gene"},{"created":"2021-03-08T08:22:54.328257+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ATRX","entity_type":"gene"},{"created":"2021-03-08T08:22:23.727407+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580, Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ATRX","entity_type":"gene"},{"created":"2021-03-07T18:48:46.471854+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6636","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SQOR as ready","entity_name":"SQOR","entity_type":"gene"},{"created":"2021-03-07T18:48:46.461248+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6636","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sqor has been classified as Amber List (Moderate Evidence).","entity_name":"SQOR","entity_type":"gene"},{"created":"2021-03-07T18:48:37.787602+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6636","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SQOR were changed from Leigh-like disorder to Leigh-like disorder; Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221","entity_name":"SQOR","entity_type":"gene"},{"created":"2021-03-07T18:48:18.383739+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6635","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SQOR as Amber List (moderate evidence)","entity_name":"SQOR","entity_type":"gene"},{"created":"2021-03-07T18:48:18.373502+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6635","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sqor has been classified as Amber List (Moderate Evidence).","entity_name":"SQOR","entity_type":"gene"},{"created":"2021-03-07T18:48:00.922789+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6634","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SQOR: Changed phenotypes: Leigh-like disorder, Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221","entity_name":"SQOR","entity_type":"gene"},{"created":"2021-03-07T18:47:44.311979+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SQOR were changed from Leigh-like disorder to Leigh-like disorder; Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221","entity_name":"SQOR","entity_type":"gene"},{"created":"2021-03-07T18:47:09.022024+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.581","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SQOR: Changed phenotypes: Leigh-like disorder, Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221","entity_name":"SQOR","entity_type":"gene"},{"created":"2021-03-06T20:13:00.761895+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTSA as ready","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T20:13:00.750779+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsa has been classified as Green List (High Evidence).","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T20:12:57.913140+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTSA were changed from  to Galactosialidosis, MIM# 256540","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T20:11:54.372652+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTSA were set to ","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T20:11:18.004271+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T20:10:45.954495+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8514852, 8968752; Phenotypes: Galactosialidosis, MIM# 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T20:09:04.820561+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTSA as ready","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T20:09:04.810310+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsa has been classified as Green List (High Evidence).","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T20:09:01.509756+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTSA were changed from  to Galactosialidosis, MIM# 256540","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T20:08:29.633448+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTSA were set to ","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T20:08:00.232575+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T20:07:24.016921+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8514852, 8968752; Phenotypes: Galactosialidosis, MIM# 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-03-06T19:26:07.562244+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYCP2L as ready","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2021-03-06T19:26:07.552105+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sycp2l has been classified as Amber List (Moderate Evidence).","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2021-03-06T19:26:01.722214+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SYCP2L as Amber List (moderate evidence)","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2021-03-06T19:26:01.714142+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sycp2l has been classified as Amber List (Moderate Evidence).","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2021-03-06T19:25:53.153867+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SYCP2L was added\ngene: SYCP2L was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SYCP2L were set to Premature ovarian insufficiency\nReview for gene: SYCP2L was set to AMBER\nAdded comment: - PMID: 32303603 (2021) - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L.\r\nIn vitro assays revealed that mutant SYCP2L proteins induced mislocalisation and reduced expression. Sycp2l knockout mice exhibit accelerated reproductive ageing. \nSources: Literature","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2021-03-06T18:51:21.020076+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-03-06T18:44:57.409439+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAM2 as ready","entity_name":"PGAM2","entity_type":"gene"},{"created":"2021-03-06T18:44:57.399155+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgam2 has been classified as Green List (High Evidence).","entity_name":"PGAM2","entity_type":"gene"},{"created":"2021-03-06T18:44:51.741658+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAM2 were changed from  to Glycogen storage disease X, MIM# 261670","entity_name":"PGAM2","entity_type":"gene"},{"created":"2021-03-06T18:44:22.773945+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAM2 were set to ","entity_name":"PGAM2","entity_type":"gene"},{"created":"2021-03-06T18:43:54.392958+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGAM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAM2","entity_type":"gene"},{"created":"2021-03-06T18:43:25.237012+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8447317; Phenotypes: Glycogen storage disease X, MIM# 261670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAM2","entity_type":"gene"},{"created":"2021-03-06T18:40:55.704403+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency 300653 to Phosphoglycerate kinase 1 deficiency 300653; MONDO:0010392","entity_name":"PGK1","entity_type":"gene"},{"created":"2021-03-06T18:38:30.949684+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6634","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency, MIM# 300653 to Phosphoglycerate kinase 1 deficiency, MIM# 300653; MONDO:0010392","entity_name":"PGK1","entity_type":"gene"},{"created":"2021-03-06T18:38:00.032423+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency, MIM# 300653 to Phosphoglycerate kinase 1 deficiency, MIM# 300653; MONDO:0010392","entity_name":"PGK1","entity_type":"gene"},{"created":"2021-03-06T18:36:59.729449+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3485","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGK1 as ready","entity_name":"PGK1","entity_type":"gene"},{"created":"2021-03-06T18:36:59.717243+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3485","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgk1 has been classified as Green List (High Evidence).","entity_name":"PGK1","entity_type":"gene"},{"created":"2021-03-06T18:36:52.922340+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3485","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGK1 were changed from  to Phosphoglycerate kinase 1 deficiency, MIM# 300653; MONDO:0010392","entity_name":"PGK1","entity_type":"gene"},{"created":"2021-03-06T18:36:16.942425+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3484","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGK1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PGK1","entity_type":"gene"},{"created":"2021-03-06T18:35:43.794195+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3483","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 6933565, 1547346, 7577653, 9512313; Phenotypes: Phosphoglycerate kinase 1 deficiency, MIM# 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PGK1","entity_type":"gene"},{"created":"2021-03-06T18:34:57.181188+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6633","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGK1 as ready","entity_name":"PGK1","entity_type":"gene"}]}