{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1903","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1901","results":[{"created":"2020-03-18T10:52:57.599694+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1727","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NADK2 was added\ngene: NADK2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NADK2 were set to 24847004; 29388319; 27940755\nPhenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM#\t616034\nReview for gene: NADK2 was set to GREEN\ngene: NADK2 was marked as current diagnostic\nAdded comment: Mitochondrial dysfunction resulting in severe neurologic and metabolic dysfunction beginning in early infancy reported in two individuals with confirmed variants in this gene. Another individual with homozygous hypomorphic start loss variant g.36241900 A>G p. Met1Val and milder phenotype reported (PMID:29388319). \nSources: Expert list","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-03-18T10:51:20.957060+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NADK2 as Green List (high evidence)","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-03-18T10:51:20.948255+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadk2 has been classified as Green List (High Evidence).","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-03-18T10:50:52.417067+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NADK2 was added\ngene: NADK2 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NADK2 were set to 24847004; 29388319; 27940755\nPhenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM#\t616034\nReview for gene: NADK2 was set to GREEN\nAdded comment: Mitochondrial dysfunction resulting in severe neurologic and metabolic dysfunction beginning in early infancy reported in two individuals with confirmed variants in this gene. Another individual with homozygous hypomorphic start loss variant g.36241900 A>G p. Met1Val and milder phenotype reported (PMID:29388319). \nSources: Expert list","entity_name":"NADK2","entity_type":"gene"},{"created":"2020-03-18T10:43:03.689751+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSTO1 as ready","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-03-18T10:43:03.680486+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msto1 has been classified as Green List (High Evidence).","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-03-18T10:42:59.845258+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MSTO1 as Green List (high evidence)","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-03-18T10:42:59.831738+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msto1 has been classified as Green List (High Evidence).","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-03-18T10:42:31.422469+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MSTO1 was added\ngene: MSTO1 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MSTO1 were set to 28554942; 28544275; 31604776; 31463572; 31130378; 30684668; 29339779\nPhenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM#\t617675\nReview for gene: MSTO1 was set to GREEN\ngene: MSTO1 was marked as current diagnostic\nAdded comment: Impaired mitochondrial fusion disorder. Multiple families reported with bi-allelic variants and childhood-onset muscular dystrophy, corticospinal tract dysfunction and early-onset non-progressive cerebellar atrophy. One family reported with heterozygous variant in this gene, gene-disease association for mono allelic variants not well established. \nSources: Expert list","entity_name":"MSTO1","entity_type":"gene"},{"created":"2020-03-18T10:28:43.425692+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.635","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISCA1 as ready","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:28:43.412459+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.635","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:16:05.124906+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.635","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ISCA1 as Green List (high evidence)","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:16:05.116003+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.635","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:15:35.294386+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.634","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISCA1 was added\ngene: ISCA1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122\nPhenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM#\t617613\nReview for gene: ISCA1 was set to GREEN\nAdded comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families. \nSources: Expert list","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:12:06.801131+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2470","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISCA1 as ready","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:12:06.787402+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2470","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:12:01.007961+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2470","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ISCA1 as Green List (high evidence)","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:12:00.998530+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2470","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:11:28.412153+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2469","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISCA1 was added\ngene: ISCA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122\nPhenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM#\t617613\nReview for gene: ISCA1 was set to GREEN\ngene: ISCA1 was marked as current diagnostic\nAdded comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families. \nSources: Expert list","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:09:55.832207+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISCA1 as ready","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:09:55.817707+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:09:51.560282+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ISCA1 as Green List (high evidence)","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:09:51.551586+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:09:22.665397+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISCA1 was added\ngene: ISCA1 was added to Regression. Sources: Expert list\nMode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122\nPhenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM#\t617613\nReview for gene: ISCA1 was set to GREEN\ngene: ISCA1 was marked as current diagnostic\nAdded comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families. \nSources: Expert list","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:07:35.747729+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1726","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISCA1 as ready","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:07:35.738832+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1726","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:07:23.835169+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1726","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ISCA1 as Green List (high evidence)","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:07:23.826295+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1726","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:07:05.817794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1725","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISCA1 was added\ngene: ISCA1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122\nPhenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM#\t617613\nReview for gene: ISCA1 was set to GREEN\ngene: ISCA1 was marked as current diagnostic\nAdded comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families. \nSources: Expert list","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:05:21.515329+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISCA1 as ready","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:05:21.506250+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:05:16.922463+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ISCA1 as Green List (high evidence)","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:05:16.909362+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: isca1 has been classified as Green List (High Evidence).","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T10:04:46.156965+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ISCA1 was added\ngene: ISCA1 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122\nPhenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM#\t617613\nReview for gene: ISCA1 was set to GREEN\ngene: ISCA1 was marked as current diagnostic\nAdded comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families. \nSources: Expert list","entity_name":"ISCA1","entity_type":"gene"},{"created":"2020-03-18T09:54:55.478119+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IDH3B as ready","entity_name":"IDH3B","entity_type":"gene"},{"created":"2020-03-18T09:54:55.463572+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: idh3b has been classified as Amber List (Moderate Evidence).","entity_name":"IDH3B","entity_type":"gene"},{"created":"2020-03-18T09:54:45.649074+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IDH3B were changed from  to Retinitis pigmentosa 46, MIM# 612572","entity_name":"IDH3B","entity_type":"gene"},{"created":"2020-03-18T09:53:26.014745+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IDH3B were set to ","entity_name":"IDH3B","entity_type":"gene"},{"created":"2020-03-18T09:53:03.337288+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IDH3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDH3B","entity_type":"gene"},{"created":"2020-03-18T09:52:18.040301+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IDH3B as Amber List (moderate evidence)","entity_name":"IDH3B","entity_type":"gene"},{"created":"2020-03-18T09:52:18.026951+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: idh3b has been classified as Amber List (Moderate Evidence).","entity_name":"IDH3B","entity_type":"gene"},{"created":"2020-03-18T09:51:46.706563+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IDH3B: Rating: AMBER; Mode of pathogenicity: None; Publications: 18806796, 31736247; Phenotypes: Retinitis pigmentosa 46, MIM# 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDH3B","entity_type":"gene"},{"created":"2020-03-18T09:45:32.078776+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HTRA2 as ready","entity_name":"HTRA2","entity_type":"gene"},{"created":"2020-03-18T09:45:32.064582+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: htra2 has been classified as Green List (High Evidence).","entity_name":"HTRA2","entity_type":"gene"},{"created":"2020-03-18T09:45:26.913056+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HTRA2 as Green List (high evidence)","entity_name":"HTRA2","entity_type":"gene"},{"created":"2020-03-18T09:45:26.900180+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: htra2 has been classified as Green List (High Evidence).","entity_name":"HTRA2","entity_type":"gene"},{"created":"2020-03-18T09:44:58.290015+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HTRA2 was added\ngene: HTRA2 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HTRA2 were set to 27208207; 27696117\nPhenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, MIM#\t617248\nReview for gene: HTRA2 was set to GREEN\ngene: HTRA2 was marked as current diagnostic\nAdded comment: Severe disorder typically presenting with hypotonia, abnormal movements, respiratory insufficiency with apnoea, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Increased serum lactate and 3-methylglutaconic aciduria. At least four unrelated families reported. \nSources: Expert list","entity_name":"HTRA2","entity_type":"gene"},{"created":"2020-03-17T21:31:00.977710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1724","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC5 as ready","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-03-17T21:31:00.968808+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1724","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc5 has been classified as Green List (High Evidence).","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-03-17T21:30:52.374974+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1724","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC5 were changed from  to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; Xeroderma pigmentosum, group G, MIM# 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-03-17T21:30:36.106240+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1723","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC5 were set to ","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-03-17T21:30:20.916558+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1722","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-03-17T21:14:17.231739+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1721","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BTD as ready","entity_name":"BTD","entity_type":"gene"},{"created":"2020-03-17T21:14:17.223253+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1721","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: btd has been classified as Green List (High Evidence).","entity_name":"BTD","entity_type":"gene"},{"created":"2020-03-17T21:14:07.492978+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1721","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BTD were changed from  to Biotinidase deficiency, MIM 253260","entity_name":"BTD","entity_type":"gene"},{"created":"2020-03-17T21:13:52.789763+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1720","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BTD were set to ","entity_name":"BTD","entity_type":"gene"},{"created":"2020-03-17T21:13:38.053009+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1719","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BTD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BTD","entity_type":"gene"},{"created":"2020-03-17T21:12:33.665450+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1718","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTNNB1 as ready","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-03-17T21:12:33.648587+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1718","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnb1 has been classified as Green List (High Evidence).","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-03-17T21:12:22.720784+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1718","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTNNB1 were changed from  to Exudative vitreoretinopathy 7, MIM# 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-03-17T21:12:03.554879+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1717","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTNNB1 were set to ","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-03-17T21:11:32.710487+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1716","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: CTNNB1 was changed from  to Other","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-03-17T21:11:14.210536+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1715","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTNNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-03-17T21:10:53.971387+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1714","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25326669, 29435196, 27915094, 30640974; Phenotypes: Exudative vitreoretinopathy 7, MIM# 617572, Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-03-17T15:41:32.512239+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1714","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30838033, 24700531; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, Xeroderma pigmentosum, group G, MIM# 278780, Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-03-17T15:26:12.058794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1714","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10801053, 12359137; Phenotypes: Biotinidase deficiency, MIM 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BTD","entity_type":"gene"},{"created":"2020-03-17T12:28:57.461310+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1714","user_name":"Teresa Zhao","item_type":"entity","text":"changed review comment from: OMIM: \r\nLoF - mainly non cancerous phenotypes, and\r\nGoF - mainly cancer phenotypes.\r\n\r\nCancer hot spot in exon 3, mainly missenses affecting S33, S37, S45, T41, D32 and G34 (Gao. C. et al. 2017); to: OMIM: \r\nLoF - mainly non cancerous phenotypes, and\r\nGoF - mainly cancer phenotypes.\r\n\r\nCancer hot spot in exon 3, mainly missenses affecting S33, S37, S45, T41, D32 and G34 (Gao. C. et al. 2017)","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-03-17T12:28:10.879203+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1714","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PMID: 29435196, PMID: 27915094, PMID: 30640974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-03-17T10:33:42.650772+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KANK4: Changed phenotypes: Nephrotic syndrome","entity_name":"KANK4","entity_type":"gene"},{"created":"2020-03-17T10:32:41.142489+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1714","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KANK4: Changed rating: RED","entity_name":"KANK4","entity_type":"gene"},{"created":"2020-03-17T10:27:00.160451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1714","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TET2 as ready","entity_name":"TET2","entity_type":"gene"},{"created":"2020-03-17T10:27:00.145925+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1714","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tet2 has been classified as Red List (Low Evidence).","entity_name":"TET2","entity_type":"gene"},{"created":"2020-03-17T10:26:41.885122+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1714","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TET2 as Red List (low evidence)","entity_name":"TET2","entity_type":"gene"},{"created":"2020-03-17T10:26:41.869794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1714","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tet2 has been classified as Red List (Low Evidence).","entity_name":"TET2","entity_type":"gene"},{"created":"2020-03-17T10:26:23.796994+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1713","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TET2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"TET2","entity_type":"gene"},{"created":"2020-03-17T09:54:30.225283+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1713","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARL11 as ready","entity_name":"ARL11","entity_type":"gene"},{"created":"2020-03-17T09:54:30.216809+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1713","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arl11 has been classified as Red List (Low Evidence).","entity_name":"ARL11","entity_type":"gene"},{"created":"2020-03-17T09:54:21.119618+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1713","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARL11","entity_type":"gene"},{"created":"2020-03-17T09:54:08.545623+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1712","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARL11 as Red List (low evidence)","entity_name":"ARL11","entity_type":"gene"},{"created":"2020-03-17T09:54:08.532141+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1712","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arl11 has been classified as Red List (Low Evidence).","entity_name":"ARL11","entity_type":"gene"},{"created":"2020-03-17T09:53:50.812711+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1711","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARL11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARL11","entity_type":"gene"},{"created":"2020-03-17T09:37:17.304330+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1711","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLCN6 as ready","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:37:17.295457+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1711","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clcn6 has been classified as Red List (Low Evidence).","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:37:07.537653+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1711","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN6 were changed from  to Benign partial epilepsy; febrile seizures; NCL","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:36:51.799331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLCN6 were set to ","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:36:13.238571+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1709","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLCN6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:35:54.284501+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1708","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLCN6 as Red List (low evidence)","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:35:54.273740+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1708","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clcn6 has been classified as Red List (Low Evidence).","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:35:11.537371+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1707","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: None; Publications: 25794116, 21107136; Phenotypes: Benign partial epilepsy, febrile seizures, NCL; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:33:16.669911+11:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLCN6 as ready","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:33:16.659931+11:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clcn6 has been classified as Red List (Low Evidence).","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:33:10.393066+11:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN6 were changed from  to Benign partial epilepsy; febrile seizures; NCL","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:32:42.535961+11:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLCN6 were set to ","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:32:10.610563+11:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLCN6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:31:46.269811+11:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLCN6 as Red List (low evidence)","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:31:46.256703+11:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clcn6 has been classified as Red List (Low Evidence).","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:31:18.843304+11:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCN6: Changed phenotypes: Benign partial epilepsy, febrile seizures, NCL; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-17T09:31:02.828740+11:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: None; Publications: 25794116, 21107136; Phenotypes: Benign partial epilepsy, febrile seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CLCN6","entity_type":"gene"},{"created":"2020-03-16T20:02:00.173051+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1707","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEMA6B as ready","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2020-03-16T20:02:00.163965+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1707","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema6b has been classified as Green List (High Evidence).","entity_name":"SEMA6B","entity_type":"gene"}]}