{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1772","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1770","results":[{"created":"2020-06-11T06:57:07.838561+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3050","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIMS2 as ready","entity_name":"LIMS2","entity_type":"gene"},{"created":"2020-06-11T06:57:07.826673+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3050","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lims2 has been classified as Red List (Low Evidence).","entity_name":"LIMS2","entity_type":"gene"},{"created":"2020-06-11T06:56:56.049434+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3050","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LIMS2 was added\ngene: LIMS2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: LIMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIMS2 were set to 25589244; 16317048\nPhenotypes for gene: LIMS2 were set to Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue MIM#616827\nReview for gene: LIMS2 was set to RED\nAdded comment: Only one family reported and Pinch2 -/- mice were viable and fertile with no apparent phenotype. \nSources: Expert list","entity_name":"LIMS2","entity_type":"gene"},{"created":"2020-06-10T09:53:06.148679+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3049","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22772369; Phenotypes: Interstitial nephritis, karyomegalic 614817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FAN1","entity_type":"gene"},{"created":"2020-06-10T08:47:12.119195+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3049","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31334757, 25575569, 32193685; Phenotypes: ?Mungan syndrome, 611376, Cornelia de Lange syndrome 4, 614701, Holoprocencephaly; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-06-09T21:00:48.392149+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAD21 as ready","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-06-09T21:00:48.380053+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad21 has been classified as Green List (High Evidence).","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-06-09T21:00:43.895791+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAD21 as Green List (high evidence)","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-06-09T21:00:43.887050+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad21 has been classified as Green List (High Evidence).","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-06-09T21:00:13.957836+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAD21 was added\ngene: RAD21 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAD21 were set to 31334757\nPhenotypes for gene: RAD21 were set to Holoprosencephaly; Septo-optic dysplasia\nReview for gene: RAD21 was set to GREEN\nAdded comment: Three individuals reported with variants in this gene and HPE phenotype. Note paper reports variants in other cohesinopathy genes also. \nSources: Literature","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-06-09T20:54:06.855822+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSMB1 as ready","entity_name":"PSMB1","entity_type":"gene"},{"created":"2020-06-09T20:54:06.846725+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmb1 has been classified as Amber List (Moderate Evidence).","entity_name":"PSMB1","entity_type":"gene"},{"created":"2020-06-09T20:53:57.954905+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSMB1 as Amber List (moderate evidence)","entity_name":"PSMB1","entity_type":"gene"},{"created":"2020-06-09T20:53:57.942415+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmb1 has been classified as Amber List (Moderate Evidence).","entity_name":"PSMB1","entity_type":"gene"},{"created":"2020-06-09T20:53:38.466483+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3048","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSMB1 was added\ngene: PSMB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PSMB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMB1 were set to 32129449\nPhenotypes for gene: PSMB1 were set to Intellectual disability; microcephaly\nReview for gene: PSMB1 was set to AMBER\nAdded comment: Two siblings reported with a homozygous missense variant in this gene; supportive experimental evidence including zebrafish model. \nSources: Literature","entity_name":"PSMB1","entity_type":"gene"},{"created":"2020-06-09T20:52:31.545208+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2688","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSMB1 as ready","entity_name":"PSMB1","entity_type":"gene"},{"created":"2020-06-09T20:52:31.532906+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2688","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmb1 has been classified as Amber List (Moderate Evidence).","entity_name":"PSMB1","entity_type":"gene"},{"created":"2020-06-09T20:52:17.828989+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2688","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSMB1 as Amber List (moderate evidence)","entity_name":"PSMB1","entity_type":"gene"},{"created":"2020-06-09T20:52:17.820183+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2688","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmb1 has been classified as Amber List (Moderate Evidence).","entity_name":"PSMB1","entity_type":"gene"},{"created":"2020-06-09T20:51:26.532338+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2687","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSMB1 was added\ngene: PSMB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PSMB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMB1 were set to 32129449\nPhenotypes for gene: PSMB1 were set to Intellectual disability; microcephaly\nReview for gene: PSMB1 was set to AMBER\nAdded comment: Two siblings reported with a homozygous missense variant in this gene; supportive experimental evidence including zebrafish model. \nSources: Literature","entity_name":"PSMB1","entity_type":"gene"},{"created":"2020-06-09T20:43:30.382061+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3047","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC12A6 as ready","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:43:30.369946+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3047","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc12a6 has been classified as Green List (High Evidence).","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:43:03.642133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3047","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC12A6 were changed from  to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:42:41.889457+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3046","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC12A6 were set to ","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:42:18.388838+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3045","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC12A6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:41:55.383398+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3044","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721; Phenotypes: Andermann syndrome, Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum, Intermediate CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:40:21.749770+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC12A6 as ready","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:40:21.737567+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc12a6 has been classified as Green List (High Evidence).","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:40:18.006893+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; HMSN to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:39:52.119047+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC12A6 were set to ","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:39:42.892427+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:39:31.010419+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MM# 218000, Intermediate CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2020-06-09T20:15:47.422056+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C16orf62 as ready","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-09T20:15:47.409845+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c16orf62 has been classified as Amber List (Moderate Evidence).","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-09T20:15:43.063839+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C16orf62 as Amber List (moderate evidence)","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-09T20:15:43.051392+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c16orf62 has been classified as Amber List (Moderate Evidence).","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-09T20:15:12.736588+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2686","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475). \nSources: Expert list; to: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251). \r\nSources: Expert list","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-09T20:15:04.093002+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C16orf62 was added\ngene: C16orf62 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C16orf62 were set to 25434475; 31712251\nPhenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome\nReview for gene: C16orf62 was set to AMBER\nAdded comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251). \nSources: Literature","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-09T20:14:52.320791+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3044","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475). \nSources: Expert list; to: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251). \r\nSources: Expert list","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-09T20:12:12.625062+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3044","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: C16orf62: Changed publications: 25434475, 31712251","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-09T20:11:48.087559+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2686","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C16orf62 were set to 25434475; 31712251","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-09T20:11:21.145806+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2685","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C16orf62 were set to 25434475","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-09T20:10:44.405635+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2684","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: C16orf62: Changed publications: 25434475, 31712251","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-09T13:15:11.973498+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3044","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: EWSR1 as ready","entity_name":"EWSR1","entity_type":"gene"},{"created":"2020-06-09T13:15:11.961305+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3044","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ewsr1 has been classified as Amber List (Moderate Evidence).","entity_name":"EWSR1","entity_type":"gene"},{"created":"2020-06-09T13:11:16.409516+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3044","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: EWSR1 were changed from  to Amyotrophic lateral sclerosis","entity_name":"EWSR1","entity_type":"gene"},{"created":"2020-06-09T13:09:09.484046+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3043","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: EWSR1 were set to ","entity_name":"EWSR1","entity_type":"gene"},{"created":"2020-06-09T13:07:53.457040+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3042","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: EWSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EWSR1","entity_type":"gene"},{"created":"2020-06-09T13:07:31.720621+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3041","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: EWSR1 as Amber List (moderate evidence)","entity_name":"EWSR1","entity_type":"gene"},{"created":"2020-06-09T13:07:31.707529+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3041","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ewsr1 has been classified as Amber List (Moderate Evidence).","entity_name":"EWSR1","entity_type":"gene"},{"created":"2020-06-09T13:07:07.982138+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3040","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29731676, 22454397; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EWSR1","entity_type":"gene"},{"created":"2020-06-09T10:28:11.395387+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.39","user_name":"Tiong Tan","item_type":"entity","text":"Publications for gene: FGF10 were set to ","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-06-09T10:28:00.052098+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.38","user_name":"Tiong Tan","item_type":"entity","text":"Marked gene: FGF10 as ready","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-06-09T10:28:00.028911+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.38","user_name":"Tiong Tan","item_type":"entity","text":"Gene: fgf10 has been classified as Amber List (Moderate Evidence).","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-06-09T10:27:42.993840+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.38","user_name":"Tiong Tan","item_type":"entity","text":"Classified gene: FGF10 as Amber List (moderate evidence)","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-06-09T10:27:42.989685+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.38","user_name":"Tiong Tan","item_type":"entity","text":"Added comment: Comment on list classification: Two unrelated individuals in large craniosynostosis cohort with pathogenic variants in FGF10.","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-06-09T10:27:42.958748+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.38","user_name":"Tiong Tan","item_type":"entity","text":"Gene: fgf10 has been classified as Amber List (Moderate Evidence).","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-06-09T10:20:22.181572+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3040","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPM7 as ready","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-06-09T10:20:22.169400+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3040","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm7 has been classified as Red List (Low Evidence).","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-06-09T10:20:13.452982+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3040","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRPM7 were changed from  to {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-06-09T10:19:53.163880+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3039","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM7 as Red List (low evidence)","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-06-09T10:19:53.096232+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3039","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm7 has been classified as Red List (Low Evidence).","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-06-09T10:19:29.092183+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3038","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRPM7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500; Mode of inheritance: None","entity_name":"TRPM7","entity_type":"gene"},{"created":"2020-06-08T08:50:10.748682+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3038","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C16orf62.","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-08T08:49:44.025135+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2684","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C16orf62.","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-07T18:30:45.460601+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.719","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC1A as ready","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-06-07T18:30:45.447655+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.719","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc1a has been classified as Green List (High Evidence).","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-06-07T18:30:42.232318+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.719","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMC1A were changed from  to Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-06-07T18:30:18.377460+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.718","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMC1A were set to ","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-06-07T18:29:53.783333+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.717","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMC1A was changed from Unknown to Other","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-06-07T18:29:23.712463+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.716","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31334757, 28166369; Phenotypes: Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044; Mode of inheritance: Other","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-06-07T18:29:12.756034+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC1A as ready","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-06-07T18:29:12.747461+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc1a has been classified as Green List (High Evidence).","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-06-07T18:29:01.572351+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMC1A as Green List (high evidence)","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-06-07T18:29:01.563443+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc1a has been classified as Green List (High Evidence).","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-06-07T18:28:19.858467+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMC1A was added\ngene: SMC1A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: SMC1A was set to Other\nPublications for gene: SMC1A were set to 31334757; 28166369\nPhenotypes for gene: SMC1A were set to Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM#\t301044\nReview for gene: SMC1A was set to GREEN\nAdded comment: Multiple females reported with EE/HPE and LOF variants in this gene. Note gene also causes CdL. \nSources: Literature","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-06-07T18:25:16.145763+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAG2 as ready","entity_name":"STAG2","entity_type":"gene"},{"created":"2020-06-07T18:25:16.136998+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stag2 has been classified as Green List (High Evidence).","entity_name":"STAG2","entity_type":"gene"},{"created":"2020-06-07T18:25:12.557818+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAG2 were changed from Holoprosencephaly to Holoprosencephaly 13, X-linked, MIM#\t301043","entity_name":"STAG2","entity_type":"gene"},{"created":"2020-06-07T18:24:15.061069+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STAG2 as Green List (high evidence)","entity_name":"STAG2","entity_type":"gene"},{"created":"2020-06-07T18:24:15.050025+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stag2 has been classified as Green List (High Evidence).","entity_name":"STAG2","entity_type":"gene"},{"created":"2020-06-07T18:23:46.951628+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STAG2 was added\ngene: STAG2 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: STAG2 was set to Other\nPublications for gene: STAG2 were set to 31334757\nPhenotypes for gene: STAG2 were set to Holoprosencephaly\nReview for gene: STAG2 was set to GREEN\nAdded comment: Six females reported with LoF variants in this gene and HPE spectrum disorders. \nSources: Literature","entity_name":"STAG2","entity_type":"gene"},{"created":"2020-06-07T18:18:31.299847+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3038","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C16orf62 as ready","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-07T18:18:31.287823+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3038","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c16orf62 has been classified as Amber List (Moderate Evidence).","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-07T18:18:21.146443+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3038","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C16orf62 as Amber List (moderate evidence)","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-07T18:18:21.134115+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3038","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c16orf62 has been classified as Amber List (Moderate Evidence).","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-07T18:17:59.999373+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3037","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C16orf62 was added\ngene: C16orf62 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C16orf62 were set to 25434475\nPhenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome\nReview for gene: C16orf62 was set to AMBER\nAdded comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475). \nSources: Expert list","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-07T18:16:15.909684+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2684","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C16orf62 as ready","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-07T18:16:15.896309+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2684","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c16orf62 has been classified as Amber List (Moderate Evidence).","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-07T18:16:07.971493+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2684","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C16orf62 as Amber List (moderate evidence)","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-07T18:16:07.962723+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2684","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c16orf62 has been classified as Amber List (Moderate Evidence).","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-07T18:15:32.243456+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2683","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C16orf62 was added\ngene: C16orf62 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C16orf62 were set to 25434475\nPhenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome\nReview for gene: C16orf62 was set to AMBER\nAdded comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475). \nSources: Expert list","entity_name":"C16orf62","entity_type":"gene"},{"created":"2020-06-05T15:56:43.922752+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3036","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RHOBTB2 as ready","entity_name":"RHOBTB2","entity_type":"gene"},{"created":"2020-06-05T15:56:43.914097+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3036","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhobtb2 has been classified as Green List (High Evidence).","entity_name":"RHOBTB2","entity_type":"gene"},{"created":"2020-06-05T15:56:33.996995+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3036","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RHOBTB2 were changed from  to Epileptic encephalopathy, early infantile, 64, MIM#618004","entity_name":"RHOBTB2","entity_type":"gene"},{"created":"2020-06-05T15:56:09.102920+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3035","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RHOBTB2 were set to ","entity_name":"RHOBTB2","entity_type":"gene"},{"created":"2020-06-05T15:55:49.761153+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3034","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: RHOBTB2 was changed from  to Other","entity_name":"RHOBTB2","entity_type":"gene"},{"created":"2020-06-05T15:55:17.073721+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3033","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RHOBTB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RHOBTB2","entity_type":"gene"},{"created":"2020-06-05T14:44:08.429738+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3032","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:29276004, 29768694; Phenotypes: Epileptic encephalopathy, early infantile, 64, 618004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"RHOBTB2","entity_type":"gene"},{"created":"2020-06-05T09:59:05.876178+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2682","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP1CB as ready","entity_name":"PPP1CB","entity_type":"gene"}]}