{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1149","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1147","results":[{"created":"2021-11-01T15:48:54.703329+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4233","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:48:53.062624+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA5L1 as ready","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:48:53.051636+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:48:46.229661+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPATA5L1 as Green List (high evidence)","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:48:46.220365+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:48:21.272477+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.20","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:48:11.463574+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1371","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA5L1 as ready","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:48:11.451419+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1371","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:47:32.283958+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4233","user_name":"Dean Phelan","item_type":"entity","text":"gene: SPRED2 was added\ngene: SPRED2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPRED2 were set to PMID: 34626534\nPhenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt\nReview for gene: SPRED2 was set to GREEN\nAdded comment: PMID: 34626534\r\nHomozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome. \nSources: Literature","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T15:47:15.779195+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STT3A as ready","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:47:15.764574+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stt3a has been classified as Green List (High Evidence).","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:47:06.373140+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STT3A as Green List (high evidence)","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:47:06.363160+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stt3a has been classified as Green List (High Evidence).","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:46:36.083518+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.10","user_name":"Elena Savva","item_type":"entity","text":"gene: STT3A was added\ngene: STT3A was added to Growth failure. Sources: Literature\nMode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003\nPhenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596\nMode of pathogenicity for gene: STT3A was set to Other\nReview for gene: STT3A was set to GREEN\nAdded comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)\r\n\r\nPMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be \"healthy\" until reaching young adulthood\r\nClinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).\r\nFunctional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged). \nSources: Literature","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:46:27.188217+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9570","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STT3A as ready","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:46:27.168733+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9570","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stt3a has been classified as Green List (High Evidence).","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:46:21.306364+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.64","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SPATA5L1 was added\ngene: SPATA5L1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5L1 were set to 34626583\nPhenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss\nReview for gene: SPATA5L1 was set to GREEN\ngene: SPATA5L1 was marked as current diagnostic\nAdded comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.\r\n\r\n~53% of affected individuals had microcephaly. \nSources: Literature","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:46:16.974426+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9570","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STT3A were changed from  to Congenital disorder of glycosylation, type Iw MIM#615596","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:45:13.542443+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9569","user_name":"Lucy Spencer","item_type":"entity","text":"changed review comment from: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.\r\n\r\n-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism. \r\n-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5. \r\n-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.\r\n-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches.\r\n\r\nAll variants are in p.400s. \nSources: Literature; to: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.\r\n\r\n-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism. \r\n-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5. \r\n-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.\r\n-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches.\r\n\r\nAll variants are in p.400s. \r\nSources: Literature","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:45:06.944856+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9569","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STT3A were set to ","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:44:45.548522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9568","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STT3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:44:43.081219+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.90","user_name":"Dean Phelan","item_type":"entity","text":"gene: SPRED2 was added\ngene: SPRED2 was added to Rasopathy. Sources: Literature\nMode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPRED2 were set to PMID: 34626534\nPhenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt\nReview for gene: SPRED2 was set to GREEN\nAdded comment: PMID: 34626534\r\nHomozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome. \nSources: Literature","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T15:44:38.271470+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.17","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SPATA5L1 was added\ngene: SPATA5L1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5L1 were set to 34626583\nPhenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss\nReview for gene: SPATA5L1 was set to GREEN\ngene: SPATA5L1 was marked as current diagnostic\nAdded comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.\r\n\r\nApproximately two-thirds of individuals had spastic-dystonic cerebral palsy. \nSources: Literature","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:44:27.479810+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9567","user_name":"Lucy Spencer","item_type":"entity","text":"gene: KIAA0391 was added\ngene: KIAA0391 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0391 were set to PMID: 34715011\nAdded comment: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.\r\n\r\n-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism. \r\n-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5. \r\n-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.\r\n-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches.\r\n\r\nAll variants are in p.400s. \nSources: Literature","entity_name":"KIAA0391","entity_type":"gene"},{"created":"2021-11-01T15:44:09.811803+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.131","user_name":"Elena Savva","item_type":"entity","text":"gene: STT3A was added\ngene: STT3A was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003\nPhenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596\nMode of pathogenicity for gene: STT3A was set to Other\nReview for gene: STT3A was set to GREEN\nAdded comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)\r\n\r\nPMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be \"healthy\" until reaching young adulthood\r\nClinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).\r\nFunctional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged). \nSources: Literature","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:44:09.805659+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1371","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPATA5L1 as Green List (high evidence)","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:44:09.792035+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1371","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:44:04.105375+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RET as ready","entity_name":"RET","entity_type":"gene"},{"created":"2021-11-01T15:44:04.092690+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ret has been classified as Green List (High Evidence).","entity_name":"RET","entity_type":"gene"},{"created":"2021-11-01T15:43:30.698336+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1370","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.\r\n\r\nIn 25 patients for whom full phenotype datasets were available, 13 had epilepsy. \nSources: Literature; to: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.\r\n\r\n~64% of patients had epilepsy.\r\nSources: Literature","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:43:23.803673+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9567","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA5L1 as ready","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:43:23.793012+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9567","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:43:13.660563+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4233","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.\r\n\r\nIn 25 patients for whom full phenotype datasets were available, all 25 had ID. \nSources: Literature; to: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.\r\n\r\n~53% of patients had ID.\r\nSources: Literature","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:43:10.399468+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9567","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPATA5L1 as Green List (high evidence)","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:43:10.386644+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9567","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5l1 has been classified as Green List (High Evidence).","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:42:31.177830+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.12","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34267336; Phenotypes: Basal ganglia calcification MIM#213600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC20A2","entity_type":"gene"},{"created":"2021-11-01T15:42:25.129148+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.92","user_name":"Elena Savva","item_type":"entity","text":"gene: STT3A was added\ngene: STT3A was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003\nPhenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596\nMode of pathogenicity for gene: STT3A was set to Other\nReview for gene: STT3A was set to GREEN\nAdded comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)\r\n\r\nPMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be \"healthy\" until reaching young adulthood\r\nClinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).\r\nFunctional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged). \nSources: Literature","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:42:20.517792+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9566","user_name":"Michelle Torres","item_type":"entity","text":"gene: MLIP was added\ngene: MLIP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLIP were set to 34581780\nReview for gene: MLIP was set to GREEN\nAdded comment: PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746). \r\n\r\nIn 3 patients patients’ skeletal muscle, these variants were shown to cause reduction overall RNA expression levels of the predominant MLIP isoform. \r\n\r\nPatients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels. \nSources: Literature","entity_name":"MLIP","entity_type":"gene"},{"created":"2021-11-01T15:41:29.642431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9566","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPRED2 as ready","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T15:41:29.626783+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9566","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spred2 has been classified as Green List (High Evidence).","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T15:41:18.580255+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9566","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPRED2 as Green List (high evidence)","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T15:41:18.569916+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9566","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spred2 has been classified as Green List (High Evidence).","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T15:41:09.913688+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9565","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STT3A","entity_type":"gene"},{"created":"2021-11-01T15:41:02.068159+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1370","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SPATA5L1 was added\ngene: SPATA5L1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5L1 were set to 34626583\nPhenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss\nReview for gene: SPATA5L1 was set to GREEN\ngene: SPATA5L1 was marked as current diagnostic\nAdded comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.\r\n\r\nIn 25 patients for whom full phenotype datasets were available, 13 had epilepsy. \nSources: Literature","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:40:22.907612+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RET were changed from  to Multiple endocrine neoplasia IIA, MIM# 171400; Hirschsprung disease","entity_name":"RET","entity_type":"gene"},{"created":"2021-11-01T15:39:52.743566+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4233","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SPATA5L1 was added\ngene: SPATA5L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5L1 were set to 34626583\nPhenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss\nReview for gene: SPATA5L1 was set to GREEN\ngene: SPATA5L1 was marked as current diagnostic\nAdded comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.\r\n\r\nIn 25 patients for whom full phenotype datasets were available, all 25 had ID. \nSources: Literature","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:39:41.509805+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RET were set to ","entity_name":"RET","entity_type":"gene"},{"created":"2021-11-01T15:39:16.740024+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RET","entity_type":"gene"},{"created":"2021-11-01T15:38:44.586004+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RET","entity_type":"gene"},{"created":"2021-11-01T15:36:54.816414+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KPNA3 as ready","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:36:54.807046+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kpna3 has been classified as Green List (High Evidence).","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:36:47.262984+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KPNA3 were changed from infantile onset Hereditary Spastic Paraplegia to Hereditary Spastic Paraplegia, infantile onset","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:36:30.352850+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KPNA3 as Green List (high evidence)","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:36:30.342439+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kpna3 has been classified as Green List (High Evidence).","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:36:08.043235+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9565","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KPNA3 as ready","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:36:08.031480+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9565","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kpna3 has been classified as Green List (High Evidence).","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:35:58.295981+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9565","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KPNA3 were changed from infantile onsetHereditary Spastic Paraplegia to Hereditary Spastic Paraplegia, infantile onset","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:35:56.272345+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9564","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SPATA5L1 was added\ngene: SPATA5L1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5L1 were set to 34626583\nPhenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss\nReview for gene: SPATA5L1 was set to GREEN\ngene: SPATA5L1 was marked as current diagnostic\nAdded comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly. \nSources: Literature","entity_name":"SPATA5L1","entity_type":"gene"},{"created":"2021-11-01T15:35:44.900760+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.18","user_name":"Ain Roesley","item_type":"entity","text":"gene: KPNA3 was added\ngene: KPNA3 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KPNA3 were set to 34564892\nPhenotypes for gene: KPNA3 were set to infantile onset Hereditary Spastic Paraplegia\nPenetrance for gene: KPNA3 were set to Complete\nReview for gene: KPNA3 was set to GREEN\ngene: KPNA3 was marked as current diagnostic\nAdded comment: 8 affecteds from 5 families with infantile-onset pure HSP\r\nall missense variants, in vitro functional demonstrated reduced cargo binding\r\nNoted that 1 individual had 2 de novo missense in the gene and though 1 is less deleterious than the other in the functional assays, authors were not able to rule out either one as a VUS \nSources: Literature","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:35:21.363734+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9564","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KPNA3 as Green List (high evidence)","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:35:21.353748+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9564","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kpna3 has been classified as Green List (High Evidence).","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:35:00.494664+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9563","user_name":"Dean Phelan","item_type":"entity","text":"gene: SPRED2 was added\ngene: SPRED2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPRED2 were set to PMID: 34626534\nPhenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt\nReview for gene: SPRED2 was set to GREEN\nAdded comment: PMID: 34626534\r\nHomozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour.  The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome. \nSources: Literature","entity_name":"SPRED2","entity_type":"gene"},{"created":"2021-11-01T15:34:26.827004+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: P4HTM as ready","entity_name":"P4HTM","entity_type":"gene"},{"created":"2021-11-01T15:34:26.801070+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p4htm has been classified as Amber List (Moderate Evidence).","entity_name":"P4HTM","entity_type":"gene"},{"created":"2021-11-01T15:34:22.095706+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: P4HTM as Amber List (moderate evidence)","entity_name":"P4HTM","entity_type":"gene"},{"created":"2021-11-01T15:34:22.084911+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p4htm has been classified as Amber List (Moderate Evidence).","entity_name":"P4HTM","entity_type":"gene"},{"created":"2021-11-01T15:34:08.425618+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.18","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: RET: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34267336; Phenotypes: Hirschsprung disease (HSCR), MIM#142623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RET","entity_type":"gene"},{"created":"2021-11-01T15:33:52.060175+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.654","user_name":"Zornitza Stark","item_type":"entity","text":"gene: P4HTM was added\ngene: P4HTM was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: P4HTM were set to 25078763; 30940925; 34285383\nPhenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493\nReview for gene: P4HTM was set to AMBER\nAdded comment: Mitochondrial dysfunction reported in at least 4 individuals who had muscle biopsies.\r\n\r\nP4HTM encodes a transmembrane prolyl 4-hydroxylase with putative targets including hypoxia inducible factors, RNA polymerase II and activating transcription factor 4, which has been implicated in the integrated stress response observed in cell and animal models of mitochondrial disease. Authors postulate this may explain the mitochondrial dysfunction observed in HIDEA syndrome. \nSources: Literature","entity_name":"P4HTM","entity_type":"gene"},{"created":"2021-11-01T15:33:27.376481+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9563","user_name":"Ain Roesley","item_type":"entity","text":"gene: KPNA3 was added\ngene: KPNA3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KPNA3 were set to 34564892\nPhenotypes for gene: KPNA3 were set to infantile onsetHereditary Spastic Paraplegia\nPenetrance for gene: KPNA3 were set to Complete\nReview for gene: KPNA3 was set to GREEN\ngene: KPNA3 was marked as current diagnostic\nAdded comment: 8 affecteds from 5 families with infantile-onset pure HSP\r\nall missense variants, in vitro functional demonstrated reduced cargo binding\r\nNoted that 1 individual had 2 de novo missense in the gene and though 1 is less deleterious than the other in the functional assays, authors were not able to rule out either one as a VUS \nSources: Literature","entity_name":"KPNA3","entity_type":"gene"},{"created":"2021-11-01T15:29:58.674457+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD8 as ready","entity_name":"CHD8","entity_type":"gene"},{"created":"2021-11-01T15:29:58.664721+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd8 has been classified as Amber List (Moderate Evidence).","entity_name":"CHD8","entity_type":"gene"},{"created":"2021-11-01T15:29:54.538366+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD8 as Amber List (moderate evidence)","entity_name":"CHD8","entity_type":"gene"},{"created":"2021-11-01T15:29:54.528093+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd8 has been classified as Amber List (Moderate Evidence).","entity_name":"CHD8","entity_type":"gene"},{"created":"2021-11-01T15:28:07.501846+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD8 was added\ngene: CHD8 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD8 were set to 34415117\nPhenotypes for gene: CHD8 were set to Neurodevelopmental disorder, CHD8-related, MIM#615032; Dystonia\nReview for gene: CHD8 was set to AMBER\nAdded comment: Two individuals reported with marked childhood-onset dystonia on background of neurodevelopmental issues, phenotype expansion. \nSources: Literature","entity_name":"CHD8","entity_type":"gene"},{"created":"2021-11-01T15:02:05.342018+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9563","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POMC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMC","entity_type":"gene"},{"created":"2021-11-01T15:01:45.540123+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9562","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33666293; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMC","entity_type":"gene"},{"created":"2021-11-01T15:00:09.713369+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMC as ready","entity_name":"POMC","entity_type":"gene"},{"created":"2021-11-01T15:00:09.702581+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomc has been classified as Green List (High Evidence).","entity_name":"POMC","entity_type":"gene"},{"created":"2021-11-01T15:00:05.980024+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POMC were set to ","entity_name":"POMC","entity_type":"gene"},{"created":"2021-11-01T14:59:44.045827+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4233","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF6 as ready","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:59:44.035473+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4233","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf6 has been classified as Green List (High Evidence).","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:59:40.425759+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4233","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHF6 were changed from  to Borjeson-Forssman-Lehmann syndrome, MIM# 301900","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:59:14.569845+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4232","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHF6 were set to ","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:58:49.254225+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4231","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PHF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:58:20.087869+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4230","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 16912705; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:57:28.102428+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9562","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF6 as ready","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:57:28.093222+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9562","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf6 has been classified as Green List (High Evidence).","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:57:20.256102+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9562","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHF6 were changed from  to Borjeson-Forssman-Lehmann syndrome, MIM# 301900","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:57:02.256521+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9561","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHF6 were set to ","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:56:46.156266+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9560","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PHF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:56:28.278214+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9559","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 16912705; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:54:19.978286+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF6 as ready","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:54:19.969052+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf6 has been classified as Green List (High Evidence).","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:54:17.465640+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHF6 were set to ","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T14:54:02.772957+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9559","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCSK1 as ready","entity_name":"PCSK1","entity_type":"gene"},{"created":"2021-11-01T14:54:02.760792+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9559","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcsk1 has been classified as Green List (High Evidence).","entity_name":"PCSK1","entity_type":"gene"},{"created":"2021-11-01T14:53:54.697883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9559","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCSK1 were changed from  to Obesity with impaired prohormone processing MIM#600955","entity_name":"PCSK1","entity_type":"gene"},{"created":"2021-11-01T14:53:35.990157+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9558","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCSK1 were set to ","entity_name":"PCSK1","entity_type":"gene"},{"created":"2021-11-01T14:53:16.683194+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9557","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCSK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCSK1","entity_type":"gene"},{"created":"2021-11-01T14:52:58.180283+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9556","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30383237; Phenotypes: Obesity with impaired prohormone processing MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCSK1","entity_type":"gene"}]}