{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1377","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1375","results":[{"created":"2021-03-21T19:55:29.535005+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp3 has been classified as Amber List (Moderate Evidence).","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-03-21T19:55:26.516980+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHP3 were changed from  to Meckel syndrome 7, MIM# 267010","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-03-21T19:55:01.534867+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPHP3 were set to ","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-03-21T19:53:27.304342+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-03-21T19:53:04.811272+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPHP3 as Amber List (moderate evidence)","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-03-21T19:53:04.801792+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp3 has been classified as Amber List (Moderate Evidence).","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-03-21T19:52:31.954997+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18371931; Phenotypes: Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-03-21T19:49:31.553646+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHP1 as ready","entity_name":"NPHP1","entity_type":"gene"},{"created":"2021-03-21T19:49:31.543133+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp1 has been classified as Green List (High Evidence).","entity_name":"NPHP1","entity_type":"gene"},{"created":"2021-03-21T19:49:28.536772+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHP1 were changed from  to Joubert syndrome 4, MIM# 609583","entity_name":"NPHP1","entity_type":"gene"},{"created":"2021-03-21T19:48:59.995305+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPHP1 were set to ","entity_name":"NPHP1","entity_type":"gene"},{"created":"2021-03-21T19:48:26.147288+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP1","entity_type":"gene"},{"created":"2021-03-21T19:47:52.113769+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138899, 32139166, 28347285; Phenotypes: Joubert syndrome 4, MIM# 609583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP1","entity_type":"gene"},{"created":"2021-03-21T18:27:54.088297+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP4A as ready","entity_name":"INPP4A","entity_type":"gene"},{"created":"2021-03-21T18:27:54.078407+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp4a has been classified as Amber List (Moderate Evidence).","entity_name":"INPP4A","entity_type":"gene"},{"created":"2021-03-21T18:27:47.552121+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3541","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INPP4A as Amber List (moderate evidence)","entity_name":"INPP4A","entity_type":"gene"},{"created":"2021-03-21T18:27:47.541922+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp4a has been classified as Amber List (Moderate Evidence).","entity_name":"INPP4A","entity_type":"gene"},{"created":"2021-03-21T18:27:20.356606+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3540","user_name":"Zornitza Stark","item_type":"entity","text":"gene: INPP4A was added\ngene: INPP4A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP4A were set to 31978615; 31938306; 25338135; 20011524\nPhenotypes for gene: INPP4A were set to Intellectual disability\nReview for gene: INPP4A was set to AMBER\nAdded comment: Two families reported with bi-allelic variants and a neurological phenotype. Supportive mouse model and expression data. \nSources: Literature","entity_name":"INPP4A","entity_type":"gene"},{"created":"2021-03-21T18:24:52.378668+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6811","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP4A as ready","entity_name":"INPP4A","entity_type":"gene"},{"created":"2021-03-21T18:24:52.367910+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6811","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp4a has been classified as Amber List (Moderate Evidence).","entity_name":"INPP4A","entity_type":"gene"},{"created":"2021-03-21T18:24:40.949047+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6811","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INPP4A as Amber List (moderate evidence)","entity_name":"INPP4A","entity_type":"gene"},{"created":"2021-03-21T18:24:40.939101+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6811","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp4a has been classified as Amber List (Moderate Evidence).","entity_name":"INPP4A","entity_type":"gene"},{"created":"2021-03-21T18:24:20.730421+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6810","user_name":"Zornitza Stark","item_type":"entity","text":"gene: INPP4A was added\ngene: INPP4A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP4A were set to 31978615; 31938306; 25338135; 20011524\nPhenotypes for gene: INPP4A were set to Intellectual disability\nReview for gene: INPP4A was set to AMBER\nAdded comment: Two families reported with bi-allelic variants and a neurological phenotype. Supportive mouse model and expression data. \nSources: Literature","entity_name":"INPP4A","entity_type":"gene"},{"created":"2021-03-21T18:19:17.767891+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SATB1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-03-21T18:17:03.483865+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3539","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly to Kohlschutter-Tonz syndrome-like, MIM# 619229; Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:16:18.207982+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3538","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SATB1: Changed rating: GREEN","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:15:59.179090+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3538","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SATB1: Added comment: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.\r\n\r\nDevelopmental delay with dysmorphic facies and dental anomalies (DEFDA) is characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition. The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, often with abnormal dentition and nonspecific visual defects, such as myopia, astigmatism, and strabismus. Although rare, involvement of other systems, such as skeletal, cardiac, and gastrointestinal, may be present. 12 individuals from 11 families reported (one inherited variant, affected parent).; Changed phenotypes: Kohlschutter-Tonz syndrome-like, MIM# 619229, Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228, Developmental disorders","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:14:11.418077+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; regression to Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; regression","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:13:25.159411+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.; to: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.\r\n\r\nNote Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228 is a milder, allelic disorder.","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:13:02.711860+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SATB1: Added comment: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.; Changed phenotypes: Kohlschutter-Tonz syndrome-like, MIM# 619229","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:11:57.312603+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1045","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:11:09.035939+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1044","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:10:48.108751+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1044","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:10:06.353640+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1043","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SATB1: Added comment: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.\r\n\r\nNote Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228 is a milder, allelic disorder.; Changed phenotypes: Kohlschutter-Tonz syndrome-like, MIM# 619229","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:08:36.242233+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6809","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly to Kohlschutter-Tonz syndrome-like, MIM# 619229; Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:08:04.049506+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6808","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SATB1: Added comment: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.; Changed phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228, Kohlschutter-Tonz syndrome-like, MIM# 619229","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:04:31.015419+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6808","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SATB1: Changed publications: 33513338","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T18:04:19.768645+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6808","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: SATB1: Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition. The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, often with abnormal dentition and nonspecific visual defects, such as myopia, astigmatism, and strabismus. Although rare, involvement of other systems, such as skeletal, cardiac, and gastrointestinal, may be present. 12 individuals from 11 families reported (one inherited variant, affected parent).","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:48:24.636292+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.273","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; Intellectual disability; Seizures; Microcephaly; Regression; Movement disorder, ataxia to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; Intellectual disability; Seizures; Microcephaly; Regression; Movement disorder, ataxia","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:48:07.116303+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:47:46.897522+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3538","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:47:18.036876+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3537","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SATB1: Changed phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228, Developmental disorders","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:47:01.128148+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; regression to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; regression","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:46:27.343334+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:45:59.902215+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1043","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:45:23.809719+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1042","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:45:03.258554+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6808","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:44:41.067759+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6807","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SATB1 were set to 33057194","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:44:22.062626+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6806","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SATB1 was changed from None to Other","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-21T10:44:01.767806+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6805","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-03-20T17:44:09.985943+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6805","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MKS1 as ready","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:44:09.971587+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6805","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mks1 has been classified as Green List (High Evidence).","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:44:02.337625+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6805","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MKS1 were changed from  to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:43:27.460338+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6804","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MKS1 were set to ","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:43:08.676439+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6803","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:42:52.098156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6802","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Joubert syndrome 28, MIM# 617121, MONDO:0014928, Meckel syndrome 1, MIM# 249000, MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:41:06.135647+11:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MKS1 were changed from Bardet-Biedl syndrome 13, MIM# 615990 to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:39:49.853347+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MKS1 as ready","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:39:49.842770+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mks1 has been classified as Green List (High Evidence).","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:39:47.409069+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MKS1 were changed from  to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:39:21.405260+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MKS1 were set to ","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:38:52.951908+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:38:25.687448+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Joubert syndrome 28, MIM# 617121, MONDO:0014928, Meckel syndrome 1, MIM# 249000, MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:37:54.190926+11:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MKS1: Changed phenotypes: Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:36:05.482423+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MKS1 as ready","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:36:05.473154+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mks1 has been classified as Green List (High Evidence).","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:36:02.229645+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MKS1 were changed from  to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:35:38.153082+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MKS1 were set to ","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:34:55.434936+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T17:34:31.175493+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014; Phenotypes: Joubert syndrome 28, MIM# 617121, MONDO:0014928, Meckel syndrome 1, MIM# 249000, MONDO:0009571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-03-20T13:54:01.062753+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLII as ready","entity_name":"FLII","entity_type":"gene"},{"created":"2021-03-20T13:54:01.052104+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flii has been classified as Amber List (Moderate Evidence).","entity_name":"FLII","entity_type":"gene"},{"created":"2021-03-20T13:53:54.631521+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLII as Amber List (moderate evidence)","entity_name":"FLII","entity_type":"gene"},{"created":"2021-03-20T13:53:54.615749+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flii has been classified as Amber List (Moderate Evidence).","entity_name":"FLII","entity_type":"gene"},{"created":"2021-03-20T13:53:45.572939+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLII was added\ngene: FLII was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLII were set to 32870709\nPhenotypes for gene: FLII were set to Dilated cardiomyopathy\nReview for gene: FLII was set to AMBER\nAdded comment: Two unrelated families reported with homozygous missense variants. Emerging evidence. \nSources: Literature","entity_name":"FLII","entity_type":"gene"},{"created":"2021-03-20T13:52:50.123997+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6802","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLII as ready","entity_name":"FLII","entity_type":"gene"},{"created":"2021-03-20T13:52:50.113049+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6802","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flii has been classified as Amber List (Moderate Evidence).","entity_name":"FLII","entity_type":"gene"},{"created":"2021-03-20T13:52:41.023775+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6802","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLII as Amber List (moderate evidence)","entity_name":"FLII","entity_type":"gene"},{"created":"2021-03-20T13:52:41.014783+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6802","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flii has been classified as Amber List (Moderate Evidence).","entity_name":"FLII","entity_type":"gene"},{"created":"2021-03-20T13:52:22.443704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6801","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLII was added\ngene: FLII was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLII were set to 32870709\nPhenotypes for gene: FLII were set to Dilated cardiomyopathy\nReview for gene: FLII was set to AMBER\nAdded comment: Two unrelated families reported with homozygous missense variants. Emerging evidence. \nSources: Literature","entity_name":"FLII","entity_type":"gene"},{"created":"2021-03-20T13:50:12.245740+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RHBDF1 as ready","entity_name":"RHBDF1","entity_type":"gene"},{"created":"2021-03-20T13:50:12.236389+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).","entity_name":"RHBDF1","entity_type":"gene"},{"created":"2021-03-20T13:49:45.922774+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RHBDF1 as Amber List (moderate evidence)","entity_name":"RHBDF1","entity_type":"gene"},{"created":"2021-03-20T13:49:45.912898+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).","entity_name":"RHBDF1","entity_type":"gene"},{"created":"2021-03-20T13:48:29.774203+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RHBDF1 was added\ngene: RHBDF1 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RHBDF1 were set to 32870709\nPhenotypes for gene: RHBDF1 were set to Dilated cardiomyopathy\nReview for gene: RHBDF1 was set to AMBER\nAdded comment: Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant. \nSources: Literature","entity_name":"RHBDF1","entity_type":"gene"},{"created":"2021-03-20T13:46:52.801175+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6800","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RHBDF1 as ready","entity_name":"RHBDF1","entity_type":"gene"},{"created":"2021-03-20T13:46:52.782086+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6800","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).","entity_name":"RHBDF1","entity_type":"gene"},{"created":"2021-03-20T13:46:35.567062+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6800","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RHBDF1 as Amber List (moderate evidence)","entity_name":"RHBDF1","entity_type":"gene"},{"created":"2021-03-20T13:46:35.552636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6800","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).","entity_name":"RHBDF1","entity_type":"gene"},{"created":"2021-03-20T13:46:18.104868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6799","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RHBDF1 was added\ngene: RHBDF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RHBDF1 were set to 32870709\nPhenotypes for gene: RHBDF1 were set to Dilated cardiomyopathy\nReview for gene: RHBDF1 was set to AMBER\nAdded comment: Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant. \nSources: Literature","entity_name":"RHBDF1","entity_type":"gene"},{"created":"2021-03-20T13:40:49.228065+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:MYLK3 from the panel","entity_name":null,"entity_type":null},{"created":"2021-03-20T13:40:26.895923+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:NRAP from the panel","entity_name":null,"entity_type":null},{"created":"2021-03-20T13:37:51.242796+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYLK3 as ready","entity_name":"MYLK3","entity_type":"gene"},{"created":"2021-03-20T13:37:51.232064+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mylk3 has been classified as Amber List (Moderate Evidence).","entity_name":"MYLK3","entity_type":"gene"},{"created":"2021-03-20T13:37:46.111484+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYLK3 as Amber List (moderate evidence)","entity_name":"MYLK3","entity_type":"gene"},{"created":"2021-03-20T13:37:46.102336+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mylk3 has been classified as Amber List (Moderate Evidence).","entity_name":"MYLK3","entity_type":"gene"},{"created":"2021-03-20T13:37:20.570893+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYLK3 was added\ngene: MYLK3 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709\nPhenotypes for gene: MYLK3 were set to Dilated cardiomyopathy\nReview for gene: MYLK3 was set to AMBER\nAdded comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models. \nSources: Literature","entity_name":"MYLK3","entity_type":"gene"},{"created":"2021-03-20T13:36:04.621465+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYLK3 as ready","entity_name":"MYLK3","entity_type":"gene"},{"created":"2021-03-20T13:36:04.609710+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mylk3 has been classified as Amber List (Moderate Evidence).","entity_name":"MYLK3","entity_type":"gene"},{"created":"2021-03-20T13:35:33.024841+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYLK3 as Amber List (moderate evidence)","entity_name":"MYLK3","entity_type":"gene"}]}