{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1102","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1100","results":[{"created":"2021-12-04T07:55:21.059831+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM260 as ready","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:55:21.049033+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem260 has been classified as Green List (High Evidence).","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:55:13.632816+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.927","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM260 as Green List (high evidence)","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:55:13.622089+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.927","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem260 has been classified as Green List (High Evidence).","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:55:00.962036+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.926","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families reported; predominant phenotype is that of complex severe congenital heart disease and renal anomalies. Although corpus callosum abnormalities/microcephaly were described in some, DD/ID not specifically reported.; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:54:50.216001+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.926","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM260: Changed rating: GREEN; Changed publications: 28318500, 34612517","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:54:32.372430+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10068","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Seven unrelated families reported.; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:54:17.166515+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Seven unrelated families with complex severe congenital heart disease. \r\nSources: Expert list; to: Seven unrelated families with complex severe congenital heart disease. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.\r\nSources: Expert list","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:53:59.108647+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM260 as ready","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:53:59.099133+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem260 has been classified as Green List (High Evidence).","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:53:44.393098+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Seven unrelated families reported. \r\nSources: Expert Review; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.\r\nSources: Expert Review","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:53:01.576807+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM260 were set to 28318500","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:52:25.621634+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM260 as Green List (high evidence)","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:52:25.612520+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem260 has been classified as Green List (High Evidence).","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:51:55.888770+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two unrelated families with complex severe congenital heart disease. \nSources: Expert list; to: Seven unrelated families with complex severe congenital heart disease. \r\nSources: Expert list","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:51:48.962498+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM260: Changed rating: GREEN; Changed publications: 28318500, 34612517","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:51:34.005368+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM260 as Green List (high evidence)","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:51:33.994410+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem260 has been classified as Green List (High Evidence).","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:51:14.680695+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10068","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM260 as Green List (high evidence)","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:51:14.670855+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10068","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem260 has been classified as Green List (High Evidence).","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:50:57.303382+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10067","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM260: Changed rating: GREEN","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:50:48.011920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10067","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two unrelated families reported.; to: Seven unrelated families reported.","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:50:38.306275+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10067","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM260: Changed publications: 28318500, 34612517","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:50:16.083297+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two unrelated families reported. \nSources: Expert Review; to: Seven unrelated families reported. \r\nSources: Expert Review","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:49:58.101808+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM260: Changed rating: GREEN; Changed publications: 28318500, 34612517","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:49:13.632159+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM260 was added\ngene: TMEM260 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review\nMode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM260 were set to 28318500\nPhenotypes for gene: TMEM260 were set to Structural heart defects and renal anomalies syndrome, MIM# 617478\nReview for gene: TMEM260 was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Expert Review","entity_name":"TMEM260","entity_type":"gene"},{"created":"2021-12-04T07:47:31.286844+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4344","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNIP1 as Amber List (moderate evidence)","entity_name":"SNIP1","entity_type":"gene"},{"created":"2021-12-04T07:47:31.276274+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snip1 has been classified as Amber List (Moderate Evidence).","entity_name":"SNIP1","entity_type":"gene"},{"created":"2021-12-04T07:47:03.730021+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4343","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SNIP1: Added comment: A single (founder) variant NM_024700.4:c.1097A>G, p.(Glu366Gly) has been reported in over 30 cases of Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 in the Amish community (PMIDs: 22279524; 34570759). Cases are homozygous for this variant and unaffected members of the families are heterozygous or wt. Overexpression of the equivalent mouse variant in mouse inner medullary collecting duct cells, resulted in a more aggregated appearance in the nucleus compared to wildtype. The variant protein maybe unstable as Western blots showed reduced levels of the variant protein (PMID: 22279524). Whole transcriptomic analysis of patient blood was performed in PMID: 34570759. This revealed 11 upregulated and 32 downregulated genes, of which 24 had previously been associated with neurological disease.; Changed rating: AMBER","entity_name":"SNIP1","entity_type":"gene"},{"created":"2021-12-04T07:46:44.317543+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1401","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNIP1 as ready","entity_name":"SNIP1","entity_type":"gene"},{"created":"2021-12-04T07:46:44.306740+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1401","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snip1 has been classified as Amber List (Moderate Evidence).","entity_name":"SNIP1","entity_type":"gene"},{"created":"2021-12-04T07:46:40.494760+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1401","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNIP1 as Amber List (moderate evidence)","entity_name":"SNIP1","entity_type":"gene"},{"created":"2021-12-04T07:46:40.482917+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1401","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snip1 has been classified as Amber List (Moderate Evidence).","entity_name":"SNIP1","entity_type":"gene"},{"created":"2021-12-04T07:46:09.952448+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1400","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SNIP1 was added\ngene: SNIP1 was added to Genetic Epilepsy. Sources: Expert Review\nfounder tags were added to gene: SNIP1.\nMode of inheritance for gene: SNIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNIP1 were set to 22279524; 34570759\nPhenotypes for gene: SNIP1 were set to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501\nReview for gene: SNIP1 was set to AMBER\nAdded comment: A single (founder) variant NM_024700.4:c.1097A>G, p.(Glu366Gly) has been reported in over 30 cases of Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 in the Amish community (PMIDs: 22279524; 34570759). Cases are homozygous for this variant and unaffected members of the families are heterozygous or wt. Overexpression of the equivalent mouse variant in mouse inner medullary collecting duct cells, resulted in a more aggregated appearance in the nucleus compared to wildtype. The variant protein maybe unstable as Western blots showed reduced levels of the variant protein (PMID: 22279524). Whole transcriptomic analysis of patient blood was performed in PMID: 34570759. This revealed 11 upregulated and 32 downregulated genes, of which 24 had previously been associated with neurological disease. \nSources: Expert Review","entity_name":"SNIP1","entity_type":"gene"},{"created":"2021-12-04T07:44:36.667285+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10067","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNIP1 as Amber List (moderate evidence)","entity_name":"SNIP1","entity_type":"gene"},{"created":"2021-12-04T07:44:36.656728+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10067","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snip1 has been classified as Amber List (Moderate Evidence).","entity_name":"SNIP1","entity_type":"gene"},{"created":"2021-12-04T07:44:18.034784+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10066","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SNIP1: Added comment: A single (founder) variant NM_024700.4:c.1097A>G, p.(Glu366Gly) has been reported in over 30 cases of Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 in the Amish community (PMIDs: 22279524; 34570759). Cases are homozygous for this variant and unaffected members of the families are heterozygous or wt. Overexpression of the equivalent mouse variant in mouse inner medullary collecting duct cells, resulted in a more aggregated appearance in the nucleus compared to wildtype. The variant protein maybe unstable as Western blots showed reduced levels of the variant protein (PMID: 22279524). Whole transcriptomic analysis of patient blood was performed in PMID: 34570759. This revealed 11 upregulated and 32 downregulated genes, of which 24 had previously been associated with neurological disease.; Changed rating: AMBER; Changed publications: 22279524, 34570759","entity_name":"SNIP1","entity_type":"gene"},{"created":"2021-12-04T07:41:58.855360+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.926","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK8 as ready","entity_name":"CDK8","entity_type":"gene"},{"created":"2021-12-04T07:41:58.845112+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.926","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk8 has been classified as Green List (High Evidence).","entity_name":"CDK8","entity_type":"gene"},{"created":"2021-12-04T07:41:52.951365+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.926","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDK8 as Green List (high evidence)","entity_name":"CDK8","entity_type":"gene"},{"created":"2021-12-04T07:41:52.940888+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.926","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk8 has been classified as Green List (High Evidence).","entity_name":"CDK8","entity_type":"gene"},{"created":"2021-12-04T07:41:35.818535+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDK8 was added\ngene: CDK8 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDK8 were set to 30905399\nPhenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures\nReview for gene: CDK8 was set to GREEN\nAdded comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain. \nSources: Literature","entity_name":"CDK8","entity_type":"gene"},{"created":"2021-12-04T07:38:17.032967+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.924","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSF1R as ready","entity_name":"CSF1R","entity_type":"gene"},{"created":"2021-12-04T07:38:17.019604+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.924","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csf1r has been classified as Green List (High Evidence).","entity_name":"CSF1R","entity_type":"gene"},{"created":"2021-12-04T07:38:09.150169+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.924","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSF1R as Green List (high evidence)","entity_name":"CSF1R","entity_type":"gene"},{"created":"2021-12-04T07:38:09.139974+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.924","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csf1r has been classified as Green List (High Evidence).","entity_name":"CSF1R","entity_type":"gene"},{"created":"2021-12-04T07:37:58.277256+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.923","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSF1R was added\ngene: CSF1R was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSF1R were set to 30982609; 33749994; 34135456\nPhenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS\nReview for gene: CSF1R was set to GREEN\nAdded comment: Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.\r\n\r\nFour unrelated families reported.\r\n\r\nNote mono-allelic variants cause an adult-onset disorder. \nSources: Literature","entity_name":"CSF1R","entity_type":"gene"},{"created":"2021-12-04T07:35:24.697703+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.922","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR1B as ready","entity_name":"POLR1B","entity_type":"gene"},{"created":"2021-12-04T07:35:24.687093+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.922","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr1b has been classified as Green List (High Evidence).","entity_name":"POLR1B","entity_type":"gene"},{"created":"2021-12-04T07:35:19.934721+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.922","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLR1B as Green List (high evidence)","entity_name":"POLR1B","entity_type":"gene"},{"created":"2021-12-04T07:35:19.924837+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.922","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr1b has been classified as Green List (High Evidence).","entity_name":"POLR1B","entity_type":"gene"},{"created":"2021-12-04T07:35:05.258794+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.921","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR1B was added\ngene: POLR1B was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR1B were set to 31649276\nPhenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4\nReview for gene: POLR1B was set to GREEN\nAdded comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003 \nSources: Expert Review","entity_name":"POLR1B","entity_type":"gene"},{"created":"2021-12-04T07:25:36.476697+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10066","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAF4 as ready","entity_name":"TAF4","entity_type":"gene"},{"created":"2021-12-04T07:25:36.467686+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10066","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf4 has been classified as Amber List (Moderate Evidence).","entity_name":"TAF4","entity_type":"gene"},{"created":"2021-12-04T07:25:28.306084+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10066","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAF4 as Amber List (moderate evidence)","entity_name":"TAF4","entity_type":"gene"},{"created":"2021-12-04T07:25:28.295706+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10066","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf4 has been classified as Amber List (Moderate Evidence).","entity_name":"TAF4","entity_type":"gene"},{"created":"2021-12-04T07:25:09.979429+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10065","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TAF4 was added\ngene: TAF4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAF4 were set to 33875846; 28191890\nPhenotypes for gene: TAF4 were set to Neurodevelopmental disorder\nReview for gene: TAF4 was set to AMBER\nAdded comment: Three individuals reported with de novo LoF variants as part of large cohorts, limited phenotypic information available. \nSources: Literature","entity_name":"TAF4","entity_type":"gene"},{"created":"2021-12-04T07:24:52.589232+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4343","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAF4 as ready","entity_name":"TAF4","entity_type":"gene"},{"created":"2021-12-04T07:24:52.578284+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4343","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf4 has been classified as Amber List (Moderate Evidence).","entity_name":"TAF4","entity_type":"gene"},{"created":"2021-12-04T07:24:50.905830+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4343","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAF4 as Amber List (moderate evidence)","entity_name":"TAF4","entity_type":"gene"},{"created":"2021-12-04T07:24:50.895507+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4343","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf4 has been classified as Amber List (Moderate Evidence).","entity_name":"TAF4","entity_type":"gene"},{"created":"2021-12-04T07:23:39.283100+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4342","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TAF4 was added\ngene: TAF4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAF4 were set to 33875846; 28191890\nPhenotypes for gene: TAF4 were set to Neurodevelopmental disorder\nReview for gene: TAF4 was set to AMBER\nAdded comment: Three individuals reported with de novo LoF variants as part of large cohorts, limited phenotypic information available. \nSources: Literature","entity_name":"TAF4","entity_type":"gene"},{"created":"2021-12-03T21:06:02.866245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10064","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB11A were set to 29100083","entity_name":"RAB11A","entity_type":"gene"},{"created":"2021-12-03T21:05:38.178757+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10063","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB11A as Green List (high evidence)","entity_name":"RAB11A","entity_type":"gene"},{"created":"2021-12-03T21:05:38.169125+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10063","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11a has been classified as Green List (High Evidence).","entity_name":"RAB11A","entity_type":"gene"},{"created":"2021-12-03T21:04:18.825921+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10062","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAB11A: Added comment: Two additional cases reported.; Changed rating: GREEN; Changed publications: 29100083, 33875846","entity_name":"RAB11A","entity_type":"gene"},{"created":"2021-12-03T21:03:52.924372+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4341","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB11A as Green List (high evidence)","entity_name":"RAB11A","entity_type":"gene"},{"created":"2021-12-03T21:03:52.913494+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4341","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11a has been classified as Green List (High Evidence).","entity_name":"RAB11A","entity_type":"gene"},{"created":"2021-12-03T21:03:20.317890+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4340","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAB11A: Added comment: Two additional cases reported in PMID 33875846.; Changed rating: GREEN; Changed publications: 29100083, 33875846","entity_name":"RAB11A","entity_type":"gene"},{"created":"2021-12-03T21:02:20.759281+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLK1 as ready","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T21:02:20.749204+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk1 has been classified as Green List (High Evidence).","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T21:02:10.830560+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLK1 as Green List (high evidence)","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T21:02:10.819206+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk1 has been classified as Green List (High Evidence).","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T21:01:45.977076+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLK1 was added\ngene: PLK1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLK1 were set to 33875846\nPhenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability\nReview for gene: PLK1 was set to GREEN\nAdded comment: More than 5 individuals reported. \nSources: Literature","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T21:01:16.657815+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1399","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLK1 as ready","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T21:01:16.646398+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1399","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk1 has been classified as Green List (High Evidence).","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T21:01:13.625726+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1399","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLK1 as Green List (high evidence)","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T21:01:13.614612+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1399","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk1 has been classified as Green List (High Evidence).","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T21:00:15.471858+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1398","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLK1 was added\ngene: PLK1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLK1 were set to 33875846\nPhenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability\nReview for gene: PLK1 was set to GREEN\nAdded comment: More than 5 individuals reported. \nSources: Literature","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:59:22.968703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10062","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLK1 as ready","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:59:22.957849+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10062","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk1 has been classified as Green List (High Evidence).","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:59:13.945148+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10062","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLK1 as Green List (high evidence)","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:59:13.931304+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10062","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk1 has been classified as Green List (High Evidence).","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:58:22.357154+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10061","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLK1 was added\ngene: PLK1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLK1 were set to 33875846\nPhenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability\nReview for gene: PLK1 was set to GREEN\nAdded comment: More than 5 individuals reported. \nSources: Literature","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:58:05.227789+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4340","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLK1 as Green List (high evidence)","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:58:05.217844+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4340","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk1 has been classified as Green List (High Evidence).","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:58:04.338292+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4339","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLK1 as ready","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:58:04.327321+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk1 has been classified as Green List (High Evidence).","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:57:17.575144+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4339","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLK1 as Green List (high evidence)","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:57:17.564784+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plk1 has been classified as Green List (High Evidence).","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:56:17.806236+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4338","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLK1 was added\ngene: PLK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLK1 were set to 33875846\nPhenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability\nReview for gene: PLK1 was set to GREEN\nAdded comment: More than 5 individuals reported. \nSources: Literature","entity_name":"PLK1","entity_type":"gene"},{"created":"2021-12-03T20:53:51.535882+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10060","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAP1GDS1 were set to 32431071","entity_name":"RAP1GDS1","entity_type":"gene"},{"created":"2021-12-03T20:53:18.339151+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10059","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAP1GDS1 as Green List (high evidence)","entity_name":"RAP1GDS1","entity_type":"gene"},{"created":"2021-12-03T20:53:18.330439+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10059","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rap1gds1 has been classified as Green List (High Evidence).","entity_name":"RAP1GDS1","entity_type":"gene"},{"created":"2021-12-03T20:52:47.497931+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10058","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAP1GDS1: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 32431071, 33875846","entity_name":"RAP1GDS1","entity_type":"gene"},{"created":"2021-12-03T20:52:29.094429+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4337","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAP1GDS1 were set to 32431071","entity_name":"RAP1GDS1","entity_type":"gene"},{"created":"2021-12-03T20:52:09.213148+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF5A as ready","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-12-03T20:52:09.199472+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif5a has been classified as Green List (High Evidence).","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-12-03T20:51:53.510233+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4336","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAP1GDS1 as Green List (high evidence)","entity_name":"RAP1GDS1","entity_type":"gene"},{"created":"2021-12-03T20:51:53.499656+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4336","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rap1gds1 has been classified as Green List (High Evidence).","entity_name":"RAP1GDS1","entity_type":"gene"}]}