{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=333","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=331","results":[{"created":"2024-12-07T11:37:53.919855+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.77","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PPP2R2B as Amber List (moderate evidence)","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:37:53.902032+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.77","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:36:42.727661+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.76","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PPP2R2B was added\ngene: PPP2R2B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PPP2R2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP2R2B were set to 25356899; 39565297\nPhenotypes for gene: PPP2R2B were set to Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related\nReview for gene: PPP2R2B was set to AMBER\nAdded comment: 5 cases with NDD and heterozygous missense (4/5 confirmed de novo): p.Thr246Lys (unknown inheritance), p.Asn310Lys (confirmed de novo), p.Glu37Lys (confirmed de novo, also had RNU4-2 path de novo Path variant), p.Ile427Thr (confirmed de novo, also had TAOK1 inherited Path variant), p.Arg149Pro (confirmed de novo). 5/5 with intellectual disability and developmental delay, 4/5 with seizures, 2/5 with hearing loss/auditory neuropathy. Study includes in vitro functional assays supporting a possible loss of function mechanism of disease. The 2 missense with additional diagnoses (E37K & I427T) demonstrated a partial reduction in PP2A holoenzyme assembly. Only 3 cases with a possible diagnosis that could be attributed to the PPP2R2B only, and only 2 were confirmed de novo. \nSources: Literature","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:34:00.344553+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2168","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:32:52.450849+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2168","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: PPP2R2B: Added comment: 5 cases with NDD and heterozygous missense (4/5 confirmed de novo): p.Thr246Lys (unknown inheritance), p.Asn310Lys (confirmed de novo), p.Glu37Lys (confirmed de novo, also had RNU4-2 path de novo Path variant), p.Ile427Thr (confirmed de novo, also had TAOK1 inherited Path variant), p.Arg149Pro (confirmed de novo). 5/5 with intellectual disability and developmental delay, 4/5 with seizures, 2/5 with hearing loss/auditory neuropathy. Study includes in vitro functional assays supporting a possible loss of function mechanism of disease. The 2 missense with additional diagnoses (E37K & I427T) demonstrated a partial reduction in PP2A holoenzyme assembly. Only 3 cases with a possible diagnosis that could be attributed to the PPP2R2B only, and only 2 were confirmed de novo.; Changed rating: AMBER; Changed publications: 25356899, 39565297; Changed phenotypes: Neurodevelopmental disorder MONDO:0700092","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:30:08.111515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2168","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"PPP2R2B","entity_type":"gene"},{"created":"2024-12-07T11:17:32.824845+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.27","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: KIF5A as ready","entity_name":"KIF5A","entity_type":"gene"},{"created":"2024-12-07T11:17:32.810812+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.27","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kif5a has been classified as Amber List (Moderate Evidence).","entity_name":"KIF5A","entity_type":"gene"},{"created":"2024-12-07T11:17:21.109543+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.27","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KIF5A as Amber List (moderate evidence)","entity_name":"KIF5A","entity_type":"gene"},{"created":"2024-12-07T11:17:21.093209+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.27","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kif5a has been classified as Amber List (Moderate Evidence).","entity_name":"KIF5A","entity_type":"gene"},{"created":"2024-12-07T11:16:32.542258+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.26","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KIF5A was added\ngene: KIF5A was added to Early-onset Dementia. Sources: Other\nMode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5A were set to 33077544; 36604770\nPhenotypes for gene: KIF5A were set to Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060670\nMode of pathogenicity for gene: KIF5A was set to Other\nReview for gene: KIF5A was set to AMBER\nAdded comment: ALS-FTD phenotype has been reported in two families with KIF5A variants. The mechanism of disease is likely gain of function. \nSources: Other","entity_name":"KIF5A","entity_type":"gene"},{"created":"2024-12-07T06:27:48.501813+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.133","user_name":"Shekeeb Mohammad","item_type":"entity","text":"reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38436103, 38436103; Phenotypes: paroxysmal kinesigenic dyskinesia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2024-12-07T06:22:39.804153+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.133","user_name":"Shekeeb Mohammad","item_type":"entity","text":"reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 32591469; Phenotypes: dopamine responsive dystonia, oculogyric crises; Mode of inheritance: None","entity_name":"SPR","entity_type":"gene"},{"created":"2024-12-07T06:18:34.599398+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.133","user_name":"Shekeeb Mohammad","item_type":"entity","text":"reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: paroyxsmal exercise induced dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PDHA1","entity_type":"gene"},{"created":"2024-12-07T06:16:35.811237+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.133","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: ALDH5A1 was added\ngene: ALDH5A1 was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH5A1 were set to 17438226; 38499966\nPhenotypes for gene: ALDH5A1 were set to epilepsy; paroxysmal exercise induced dyskinesia; globus pallidus hyperintensities on MRI\nReview for gene: ALDH5A1 was set to GREEN\ngene: ALDH5A1 was marked as current diagnostic\nAdded comment: Reported cases with paroyxsmal dyskinesia; exercise induced\r\ncurrent patient under my care with isolated paroxysmal dyskinesia without epilepsy with confirmed pathogenic variants in ALDH5A1 and supportive MRI changes.\r\nThis is an important differential for Paroxysmal dyskinesia with globus pallidus changes (in addition to ECHS1 and pyruvate dehydrogenase deficiency) \nSources: Literature","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2024-12-06T16:27:42.549405+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.242","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20505134; Phenotypes: aromatic L-amino acid decarboxylase deficiency MONDO:0012084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDC","entity_type":"gene"},{"created":"2024-12-06T16:19:51.260732+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2168","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: GPATCH11: Changed phenotypes: early-onset retinal dystrophy with neurological impairment MONDO:0019118","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2024-12-06T16:18:08.835347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2168","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: CTGF: Changed phenotypes: Kyphomelic dysplasia, skeletal dysplasia MONDO:0018230","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-06T16:17:47.331270+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.294","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: CTGF: Changed phenotypes: Kyphomelic dysplasia, skeletal dysplasia MONDO:0018230","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-06T15:03:24.352128+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.242","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 18175354, 36185913, 17167799; Phenotypes: Woodhouse-Sakati syndrome MONDO:0009419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCAF17","entity_type":"gene"},{"created":"2024-12-06T11:52:42.447853+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.242","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 23447832, 24360804, 27021474; Phenotypes: neurodegeneration with brain iron accumulation 6 MONDO:0014290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COASY","entity_type":"gene"},{"created":"2024-12-06T11:45:27.270559+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.540","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WDR47 as ready","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:45:27.258887+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.540","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr47 has been classified as Green List (High Evidence).","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:44:45.320175+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.540","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WDR47 as Green List (high evidence)","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:44:45.282574+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.540","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr47 has been classified as Green List (High Evidence).","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:44:10.492229+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2168","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WDR47 as ready","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:44:10.476410+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2168","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr47 has been classified as Green List (High Evidence).","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:44:00.766754+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2168","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WDR47 as Green List (high evidence)","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:44:00.754935+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2168","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr47 has been classified as Green List (High Evidence).","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:43:41.984423+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.75","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WDR47 as ready","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:43:41.969054+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.75","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr47 has been classified as Green List (High Evidence).","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:43:30.655325+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.288","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WDR47 as ready","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:43:30.643028+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.288","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr47 has been classified as Green List (High Evidence).","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:43:18.619790+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2167","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR47 was added\ngene: WDR47 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR47 were set to 39609633; 35474353\nPhenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder MONDO:0100038, WDR47-related; Congenital heart disease MONDO:0005453\nReview for gene: WDR47 was set to GREEN\nAdded comment: PMID: 39609633 - 7 cases from 5 unrelated families with biallelic variants and a complex neurodevelopmental syndrome. The most frequent phenotypes were corpus callosum dysgenesis (7/7), microcephaly (7/7), mild to severe intellectual disability (7/7), epilepsy (7/7). Additionally, mouse models recapitulate the human phenotype. Loss of function is the mechanism of disease. Heterozygous parents had no phenotype.\r\n\r\nLimited evidence for mono allelic association with congenital heart defects\r\nPMID: 35474353 - rare assumed de novo heterozygous variant (NM_014969.5:c.2056G>A p.(Val686Ile) - 10 hets in gnomAD v4.1) detected in a case with heterotaxy including AVCD, vena azygos continuation, artery lusoria, truncus bicaroticus and polysplenia. Screening of exams for 2,019 individuals with situs inversus totalis, heterotaxy, or isolated CHD detected 2 additional individuals with monoallelic rare missense variants. No functional assays or other supporting evidence. All variants are VUS \nSources: Literature","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:43:13.906633+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.75","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WDR47 as Green List (high evidence)","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:43:13.876490+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.75","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr47 has been classified as Green List (High Evidence).","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:42:30.053126+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.288","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WDR47 as Green List (high evidence)","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:42:30.033926+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.288","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr47 has been classified as Green List (High Evidence).","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:41:59.010868+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.539","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR47 was added\ngene: WDR47 was added to Callosome. Sources: Literature\nMode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR47 were set to 39609633\nPhenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder MONDO:0100038, WDR47-related\nReview for gene: WDR47 was set to GREEN\nAdded comment: 7 cases from 5 unrelated families with biallelic variants and a complex neurodevelopmental syndrome. The most frequent phenotypes were corpus callosum dysgenesis (7/7), microcephaly (7/7), mild to severe intellectual disability (7/7), epilepsy (7/7). Additionally, mouse models recapitulate the human phenotype. Loss of function is the mechanism of disease. Heterozygous parents had no phenotype. \nSources: Literature","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:41:36.880090+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.74","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR47 was added\ngene: WDR47 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR47 were set to 39609633\nPhenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder MONDO:0100038, WDR47-related\nReview for gene: WDR47 was set to GREEN\nAdded comment: 7 cases from 5 unrelated families with biallelic variants and a complex neurodevelopmental syndrome. The most frequent phenotypes were corpus callosum dysgenesis (7/7), microcephaly (7/7), mild to severe intellectual disability (7/7), epilepsy (7/7). Additionally, mouse models recapitulate the human phenotype. Loss of function is the mechanism of disease. Heterozygous parents had no phenotype. \nSources: Literature","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:41:10.259452+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.287","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR47 was added\ngene: WDR47 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR47 were set to 39609633\nPhenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder MONDO:0100038, WDR47-related\nReview for gene: WDR47 was set to GREEN\nAdded comment: 7 cases from 5 unrelated families with biallelic variants and a complex neurodevelopmental syndrome. The most frequent phenotypes were corpus callosum dysgenesis (7/7), microcephaly (7/7), mild to severe intellectual disability (7/7), epilepsy (7/7). Additionally, mouse models recapitulate the human phenotype. Loss of function is the mechanism of disease. Heterozygous parents had no phenotype. \nSources: Literature","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:40:37.297465+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WDR47 as ready","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:40:37.283682+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr47 has been classified as Green List (High Evidence).","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:39:43.682832+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WDR47 as Green List (high evidence)","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:39:43.666343+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr47 has been classified as Green List (High Evidence).","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:37:39.517369+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR47 was added\ngene: WDR47 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR47 were set to 39609633\nPhenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder MONDO:0100038, WDR47-related\nReview for gene: WDR47 was set to GREEN\nAdded comment: 7 cases from 5 unrelated families with biallelic variants and a complex neurodevelopmental syndrome. The most frequent phenotypes were corpus callosum dysgenesis (7/7), microcephaly (7/7), mild to severe intellectual disability (7/7), epilepsy (7/7). Additionally, mouse models recapitulate the human phenotype. Loss of function is the mechanism of disease. Heterozygous parents had no phenotype. \nSources: Literature","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:35:29.274593+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.424","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WDR47 as ready","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:35:29.250886+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.424","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr47 has been classified as Red List (Low Evidence).","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:34:27.828009+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.424","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR47 was added\ngene: WDR47 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: WDR47 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR47 were set to 35474353; 39609633\nPhenotypes for gene: WDR47 were set to Congenital heart disease MONDO:0005453\nReview for gene: WDR47 was set to RED\nAdded comment: A rare assumed de novo heterozygous variant (NM_014969.5:c.2056G>A p.(Val686Ile) - 10 hets in gnomAD v4.1) detected in a case with heterotaxy including AVCD, vena azygos continuation, artery lusoria, truncus bicaroticus and polysplenia. Screening of exams for 2,019 individuals with situs inversus totalis, heterotaxy, or isolated CHD detected 2 additional individuals with monoallelic rare missense variants. No functional assays or other supporting evidence. All variants are VUS. In a recent publication of biallelic variants associated with a complex neurodevelopmental syndrome, heterozygous carriers had no phenotype. \nSources: Literature","entity_name":"WDR47","entity_type":"gene"},{"created":"2024-12-06T11:28:07.399438+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.348","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: FSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16630814, 7553856, 9020851, 9769327, 20087398, 9854118, 12930928, 12930927, 17721928, 26911863; Phenotypes: Ovarian dysgenesis 1 MONDO:0024463, Ovarian hyperstimulation syndrome MONDO:0011972; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FSHR","entity_type":"gene"},{"created":"2024-12-06T11:27:02.866238+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.348","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: FSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8220432, 9280841, 9624193, 9806482, 9271483, 16630814; Phenotypes: Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FSHB","entity_type":"gene"},{"created":"2024-12-06T11:26:02.026294+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.348","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29848297, 32879300; Phenotypes: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410, Apert syndrome, MIM# 101200, Beare-Stevenson cutis gyrata syndrome, MIM# 123790, Bent bone dysplasia syndrome, MIM# 614592; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGFR2","entity_type":"gene"},{"created":"2024-12-06T11:19:47.052911+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.348","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18034870, 23812909, 26942290; Phenotypes: Encephalocraniocutaneous lipomatosis, somatic mosaic 613001, Hartsfield syndrome 615465, Hypogonadotropic hypogonadism 2 with or without anosmia 147950, Osteoglophonic dysplasia 166250; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FGFR1","entity_type":"gene"},{"created":"2024-12-06T11:15:29.346868+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.348","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Campomelic dysplasia, MIM# 114290, Campomelic dysplasia, MONDO:0007251, Acampomelic campomelic dysplasia, MIM # 114290, 46XX sex reversal 2, MIM# 278850, 46XY sex reversal 10, MIM # 616425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX9","entity_type":"gene"},{"created":"2024-12-06T11:08:31.555513+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.348","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9143916 15863672; Phenotypes: 46XX sex reversal 1, MIM# 400045, 46XY sex reversal 1 , MIM#400044; 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":"SRY","entity_type":"gene"},{"created":"2024-12-06T11:07:45.499212+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.348","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilms tumor, MONDO:0006058, Wilms tumor 1, MONDO:0008679, Wilms tumor, type 1, MIM#194070, Denys-Drash syndrome, MIM#194080, Frasier syndrome, MIM#136680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WT1","entity_type":"gene"},{"created":"2024-12-06T10:14:30.584439+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.294","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: CTGF was added\ngene: CTGF was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTGF were set to 39506047\nPhenotypes for gene: CTGF were set to Kyphomelic dysplasia\nReview for gene: CTGF was set to AMBER\nAdded comment: CCN2 is the new HGNC approved name.\r\n\r\nPMID: 39506047\r\nThree individuals from two unrelated consanguineous families presented with short stature, facial dysmorphism and kyphomelic skeletal dysplasia. \r\n\r\nA rare missense variant in family 1 (Cys148Tyr) and novel frameshift variant (Pro260LeufsTer7) in family 2 was identified in homozygous state.\r\nZebrafish model was also conducted that showed altered body curvature and impaired cartilage formation in craniofacial region resulting in either bent or missing tails. \r\n\r\nA missense variant c.443G>A; p.(Cys148Tyr) in exon 3 and a frameshift variant, c.779_786del; p.(Pro260LeufsTer7) in exon 5. \nSources: Literature","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-06T10:13:17.327300+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: CCN2 is the new HGNC approved name.\r\n\r\nPMID: 39506047\r\nThree individuals from two unrelated consanguineous families presented with short stature, facial dysmorphism and kyphomelic skeletal dysplasia. \r\n\r\nA rare missense variant  in family 1 (Cys148Tyr) and novel frameshift variant (Pro260LeufsTer7) in family 2 was identified in homozygous state.\r\nZebrafish model was also conducted that showed altered body curvature and impaired cartilage formation in craniofacial region resulting in either bent of missing tails. \r\n\r\nA missense variant c.443G>A; p.(Cys148Tyr) in exon 3 and a frameshift variant, c.779_786del; p.(Pro260LeufsTer7) in exon 5. \nSources: Literature; to: CCN2 is the new HGNC approved name.\r\n\r\nPMID: 39506047\r\nThree individuals from two unrelated consanguineous families presented with short stature, facial dysmorphism and kyphomelic skeletal dysplasia. \r\n\r\nA rare missense variant in family 1 (Cys148Tyr) and novel frameshift variant (Pro260LeufsTer7) in family 2 was identified in homozygous state.\r\nZebrafish model was also conducted that showed altered body curvature and impaired cartilage formation in craniofacial region resulting in either bent or missing tails. \r\n\r\nA missense variant c.443G>A; p.(Cys148Tyr) in exon 3 and a frameshift variant, c.779_786del; p.(Pro260LeufsTer7) in exon 5. \r\nSources: Literature","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-06T10:12:54.385905+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.223","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: CTGF was added\ngene: CTGF was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTGF were set to 39506047\nPhenotypes for gene: CTGF were set to Kyphomelic dysplasia\nReview for gene: CTGF was set to AMBER\nAdded comment: CCN2 is the new HGNC approved name.\r\n\r\nPMID: 39506047\r\nThree individuals from two unrelated consanguineous families presented with short stature, facial dysmorphism and kyphomelic skeletal dysplasia. \r\n\r\nA rare missense variant in family 1 (Cys148Tyr) and novel frameshift variant (Pro260LeufsTer7) in family 2 was identified in homozygous state.\r\nZebrafish model was also conducted that showed altered body curvature and impaired cartilage formation in craniofacial region resulting in either bent or missing tails. \r\n\r\nA missense variant c.443G>A; p.(Cys148Tyr) in exon 3 and a frameshift variant, c.779_786del; p.(Pro260LeufsTer7) in exon 5. \nSources: Literature","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-06T10:11:15.259641+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: CTGF was added\ngene: CTGF was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTGF were set to 39506047\nPhenotypes for gene: CTGF were set to Kyphomelic dysplasia\nReview for gene: CTGF was set to AMBER\nAdded comment: CCN2 is the new HGNC approved name.\r\n\r\nPMID: 39506047\r\nThree individuals from two unrelated consanguineous families presented with short stature, facial dysmorphism and kyphomelic skeletal dysplasia. \r\n\r\nA rare missense variant  in family 1 (Cys148Tyr) and novel frameshift variant (Pro260LeufsTer7) in family 2 was identified in homozygous state.\r\nZebrafish model was also conducted that showed altered body curvature and impaired cartilage formation in craniofacial region resulting in either bent of missing tails. \r\n\r\nA missense variant c.443G>A; p.(Cys148Tyr) in exon 3 and a frameshift variant, c.779_786del; p.(Pro260LeufsTer7) in exon 5. \nSources: Literature","entity_name":"CTGF","entity_type":"gene"},{"created":"2024-12-06T10:04:32.444325+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GPATCH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 39572588; Phenotypes: early-onset retinal dystrophy with neurological impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2024-12-06T09:37:57.877863+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.106","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: POLA2: Changed rating: GREEN","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-06T09:37:52.058795+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.106","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: POLA2 was added\ngene: POLA2 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: POLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLA2 were set to 39616267\nPhenotypes for gene: POLA2 were set to Telomere biology disorders; Coats plus syndrome MONDO:0012815\nAdded comment: New gene-disease association.\r\n\r\nPMID: 39616267 - Five individuals from two unrelated swedish families presenting with clinical phenotype suggestive of a TBD disorder with Coats plus features including retinal and gastrointestinal telangiectasias. Affected individuals also presented with shortened telomeres.\r\n\r\nCompound heterozygous variants were identified in both families.\r\nFamily A (Ile96Thr;Pro424Leu) - Both variants are present in gnomAD v4.1 but FAF is rare enough for AR condition [c.287 T > C, p.(Ile96Thr) - FAF 0.002%; c.1271 C > T, p.(Pro424Leu) - FAF 0.0002 %]\r\nFamily B (Ile96Thr; intragenic SNV resulting in the deletion of the 5’ terminal and exon 1) - same missense as the other family along with an SNV.\r\n\r\nIn vitro assay using CRISPR/Cas9 genome engineering into HEK293T to assess whether the p.(Ile96Thr) would affect telomere length. The subclones carrying the missense variant showed telomeric shortening of ~4kb compared to the WT subclones. \nSources: Literature","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-06T09:37:12.676418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: POLA2 was added\ngene: POLA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLA2 were set to 39616267\nPhenotypes for gene: POLA2 were set to Telomere biology disorders; Coats plus syndrome MONDO:0012815\nReview for gene: POLA2 was set to GREEN\nAdded comment: New gene-disease association.\r\n\r\nPMID: 39616267 - Five individuals from two unrelated swedish families presenting with clinical phenotype suggestive of a TBD disorder with Coats plus features including retinal and gastrointestinal telangiectasias. Affected individuals also presented with shortened telomeres.\r\n\r\nCompound heterozygous variants were identified in both families.\r\nFamily A (Ile96Thr;Pro424Leu) - Both variants are present in gnomAD v4.1 but FAF is rare enough for AR condition [c.287 T > C, p.(Ile96Thr) - FAF 0.002%; c.1271 C > T, p.(Pro424Leu) - FAF 0.0002 %]\r\nFamily B (Ile96Thr; intragenic SNV resulting in the deletion of the 5’ terminal and exon 1) - same missense as the other family along with an SNV.\r\n\r\nIn vitro assay using CRISPR/Cas9 genome engineering into HEK293T to assess whether the p.(Ile96Thr) would affect telomere length. The subclones carrying the missense variant showed telomeric shortening of ~4kb compared to the WT subclones. \nSources: Literature","entity_name":"POLA2","entity_type":"gene"},{"created":"2024-12-06T00:37:32.541383+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FRAS1 as ready","entity_name":"FRAS1","entity_type":"gene"},{"created":"2024-12-06T00:37:32.530400+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fras1 has been classified as Green List (High Evidence).","entity_name":"FRAS1","entity_type":"gene"},{"created":"2024-12-06T00:37:09.868516+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FRAS1 were set to PMID: 12766769, 18671281, 18000968","entity_name":"FRAS1","entity_type":"gene"},{"created":"2024-12-06T00:35:46.076017+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2166","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FGF8: Added comment: Association with CHD: Two individuals reported but extensive functional data. MODERATE by ClinGen.; Changed publications: 32664970, 7768185, 32664970, 10603341, 19509466, 9462741, 10603341, 12223415; Changed phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702, Hypoplastic femurs and pelvis, MIM#619545, Congenital heart disease MONDO:0005453, FGF8-related","entity_name":"FGF8","entity_type":"gene"},{"created":"2024-12-06T00:35:19.699332+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF8 as ready","entity_name":"FGF8","entity_type":"gene"},{"created":"2024-12-06T00:35:19.684366+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf8 has been classified as Amber List (Moderate Evidence).","entity_name":"FGF8","entity_type":"gene"},{"created":"2024-12-06T00:35:00.754398+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGF8 as Amber List (moderate evidence)","entity_name":"FGF8","entity_type":"gene"},{"created":"2024-12-06T00:35:00.738987+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf8 has been classified as Amber List (Moderate Evidence).","entity_name":"FGF8","entity_type":"gene"},{"created":"2024-12-06T00:34:26.181979+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.422","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGF8 was added\ngene: FGF8 was added to Congenital Heart Defect. Sources: Expert list\nMode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGF8 were set to 32664970; 7768185; 32664970; 10603341; 19509466; 9462741; 10603341; 12223415\nPhenotypes for gene: FGF8 were set to Congenital heart disease MONDO:0005453, FGF8-related\nReview for gene: FGF8 was set to AMBER\nAdded comment: Two individuals reported but extensive functional data. MODERATE by ClinGen. \nSources: Expert list","entity_name":"FGF8","entity_type":"gene"},{"created":"2024-12-06T00:31:44.727965+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF8 as ready","entity_name":"FGF8","entity_type":"gene"},{"created":"2024-12-06T00:31:44.713152+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.347","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":"2024-12-06T00:31:38.689171+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF8 were changed from  to Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702","entity_name":"FGF8","entity_type":"gene"},{"created":"2024-12-06T00:31:04.769988+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FGF8 were set to ","entity_name":"FGF8","entity_type":"gene"},{"created":"2024-12-06T00:30:25.819766+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FGF8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGF8","entity_type":"gene"},{"created":"2024-12-06T00:29:48.020903+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20463092, 18596921, 24280688, 31748124; Phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGF8","entity_type":"gene"},{"created":"2024-12-06T00:19:23.096845+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHCR7 as ready","entity_name":"DHCR7","entity_type":"gene"},{"created":"2024-12-06T00:19:23.074912+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Green List (High Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2024-12-06T00:18:25.468421+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHCR7 were changed from  to Smith-Lemli-Opitz syndrome, MIM#270400","entity_name":"DHCR7","entity_type":"gene"},{"created":"2024-12-06T00:17:38.774977+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHCR7","entity_type":"gene"},{"created":"2024-12-06T00:17:04.257369+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHCR7","entity_type":"gene"},{"created":"2024-12-06T00:16:06.281481+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTU2 as ready","entity_name":"CTU2","entity_type":"gene"},{"created":"2024-12-06T00:16:06.271769+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctu2 has been classified as Green List (High Evidence).","entity_name":"CTU2","entity_type":"gene"},{"created":"2024-12-06T00:15:56.127648+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTU2 were set to PMID: 27480277, 26633546, 31301155, 38348206","entity_name":"CTU2","entity_type":"gene"},{"created":"2024-12-06T00:14:48.200392+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD7 as ready","entity_name":"CHD7","entity_type":"gene"},{"created":"2024-12-06T00:14:48.189938+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd7 has been classified as Green List (High Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2024-12-06T00:14:44.605683+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHD7 were changed from  to Hypogonadotropic hypogonadism 5 with or without anosmia MIM#612370; CHARGE syndrome MIM#214800","entity_name":"CHD7","entity_type":"gene"},{"created":"2024-12-06T00:14:02.173148+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHD7 were set to ","entity_name":"CHD7","entity_type":"gene"},{"created":"2024-12-06T00:13:29.781385+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD7","entity_type":"gene"},{"created":"2024-12-06T00:12:53.973014+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26411921; Phenotypes: Hypogonadotropic hypogonadism 5 with or without anosmia MIM#612370, CHARGE syndrome MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD7","entity_type":"gene"},{"created":"2024-12-06T00:10:48.511289+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD4 as ready","entity_name":"CHD4","entity_type":"gene"},{"created":"2024-12-06T00:10:48.497310+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd4 has been classified as Green List (High Evidence).","entity_name":"CHD4","entity_type":"gene"},{"created":"2024-12-06T00:07:21.754751+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHD4 were set to PMID: 31388190, 32881470","entity_name":"CHD4","entity_type":"gene"},{"created":"2024-12-06T00:06:27.944774+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATRX as ready","entity_name":"ATRX","entity_type":"gene"},{"created":"2024-12-06T00:06:27.925679+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.337","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":"2024-12-06T00:06:23.815386+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATRX were changed from  to ATR-X-related syndrome MONDO:0016980","entity_name":"ATRX","entity_type":"gene"},{"created":"2024-12-06T00:05:49.702068+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.336","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"}]}