{"count":221303,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1056","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1054","results":[{"created":"2022-01-07T18:27:28.375846+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT140 were set to 22503633; 23418020; 28288023; 28724397; 26216056; 26968735","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:26:50.702525+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:26:25.913700+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT140: Added comment: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts.\r\n\r\nBilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; Changed publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735, 34890546; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:25:19.949531+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10569","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT140 were set to 22503633; 23418020; 28288023; 28724397; 26216056; 26968735","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:24:56.008306+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10568","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:23:52.271711+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4421","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM13 were changed from intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:MONDO:0016054. PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770 to intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T18:23:13.426250+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4420","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: PRDM13.","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T18:22:36.229826+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10567","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: PRDM13.","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T18:22:16.984942+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: PRDM13.","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T18:21:50.633481+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10567","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM13 were changed from Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790 to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T18:20:59.178468+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10566","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRDM13 were set to 30710461","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T18:20:39.241318+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10565","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRDM13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T18:20:20.414846+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10564","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRDM13 as ready","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T18:20:20.407706+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10564","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Bi-allelic variants:  Recessive disease causing ID and DSD described in three reportedly unrelated families (2 consanguineous), but all are from Malta, and all share the same 13bp deletion spanning an exon-intron boundary. Mouse KO is embryonically lethal, and tissue specific KO failed to replicate many of the patients phenotypes, other than hypoplasia of the cerebellar vermis and hemispheres at P21.","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T18:20:20.381844+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10564","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prdm13 has been classified as Green List (High Evidence).","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T18:17:16.062114+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PI4KA as ready","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-07T18:17:16.051616+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4ka has been classified as Amber List (Moderate Evidence).","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-07T18:17:11.346619+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PI4KA as Amber List (moderate evidence)","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-07T18:17:11.336408+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4ka has been classified as Amber List (Moderate Evidence).","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-07T18:16:45.712187+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PI4KA was added\ngene: PI4KA was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4KA were set to 34415310\nPhenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679\nReview for gene: PI4KA was set to AMBER\nAdded comment: 8 families reported with biallelic variants in this gene (Salter et al 2021). Affected individuals presented with CNS abnormalities but also with immune deficits (2 individuals from separate families) and intestinal disease (multiple families, including IBD, and 1 family with multiple intestinal atresia). \nSources: Literature","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-07T17:59:10.245570+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1931","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PI4KA as ready","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-07T17:59:10.227603+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1931","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4ka has been classified as Green List (High Evidence).","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-07T17:53:23.196157+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1931","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PI4KA as Green List (high evidence)","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-07T17:53:23.184400+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1931","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4ka has been classified as Green List (High Evidence).","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-07T17:53:11.986467+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1930","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PI4KA was added\ngene: PI4KA was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4KA were set to 34415310\nPhenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679\nReview for gene: PI4KA was set to GREEN\nAdded comment: 8 families reported with CNS abnormalities. \nSources: Expert Review","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-07T17:46:09.424865+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10564","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PI4KA were set to 25855803; 34415322","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-07T16:58:40.271167+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.685","user_name":"Naomi Baker","item_type":"entity","text":"edited their review of gene: ATP5A1: Added comment: PMID: 34954817 reports three individuals with de novo monoallelic missense variants. One of these is the recurrent p.(Arg207His) variant while the other two variants are different substitutions.  The three patients presented with a variable phenotypes: (1) a 14-year-old  girl who presented during the first few months of life with developmental delay, failure-to-thrive, and lactic acidosis.  She recovered and had no persistent neurologic phenotype; (2) a 17-year-old boy with psychomotor delay, intellectual disability, ataxia, spastic paraparesis, and dystonia; (3) a 12-year-old girl with psychomotor retardation, spastic tetraparesis, generalized dystonia, absent speech, swallowing problems, and increased blood lactate concentrations.  Enzymatic investigations of muscle tissue from patient 1 showed a decrease in ATPase activity.; Changed publications: PMID: 34954817","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2022-01-07T16:57:03.386698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10563","user_name":"Naomi Baker","item_type":"entity","text":"edited their review of gene: ATP5A1: Added comment: PMID: 34954817 reports three individuals with de novo monoallelic missense variants. One of these is the recurrent p.(Arg207His) variant while the other two variants are different substitutions.  The three patients presented with a variable phenotypes: (1) a 14-year-old  girl who presented during the first few months of life with developmental delay, failure-to-thrive, and lactic acidosis.  She recovered and had no persistent neurologic phenotype; (2) a 17-year-old boy with psychomotor delay, intellectual disability, ataxia, spastic paraparesis, and dystonia; (3) a 12-year-old girl with psychomotor retardation, spastic tetraparesis, generalized dystonia, absent speech, swallowing problems, and increased blood lactate concentrations.  Enzymatic investigations of muscle tissue from patient 1 showed a decrease in ATPase activity.; Changed publications: PMID: 34954817","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2022-01-07T16:44:49.489017+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10563","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: ATP5G3 as ready","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-07T16:44:49.478225+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10563","user_name":"Seb Lunke","item_type":"entity","text":"Gene: atp5g3 has been classified as Green List (High Evidence).","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-07T16:44:02.448208+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10563","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: ATP5G3 were set to PMID: 34636445","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-07T16:39:23.759294+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10562","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: ATP5G3 as Green List (high evidence)","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-07T16:39:23.748319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10562","user_name":"Seb Lunke","item_type":"entity","text":"Gene: atp5g3 has been classified as Green List (High Evidence).","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-07T16:24:37.359990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10561","user_name":"Naomi Baker","item_type":"entity","text":"edited their review of gene: ATP5G3: Added comment: Note that HGNC approved gene name is ATP5MC3.\r\n\r\nPMID: 34636445 reports a missense variant identified in a large single-family pedigree with dystonia and spastic paraplegia.  The variant was identified via exome sequencing of the proband and a distant cousin, focussing on variants within the previously determined linkage region. The identical missense variant was also identified in a patient with childhood onset dystonic syndrome and was shown to be de novo. Functional studies of fibroblast cell lines from affected father (HSP) and proband of large family demonstrated decreased complex V function. A drosophila model containing the missense variant had reduced mobility and reduced complex V activity.\r\n\r\nPMID: 34954817 reports de novo monoallelic missense variants in three individuals, however one of these individuals was reported in above paper. The other two patients were: (1) a-15-year-old girl with milestone delay, pyramidal signs, and generalized dystonia with prominent upper-body involvement, and (2) a 6-year-old boy with delayed  psychomotor  development, lower-extremity spasticity, and elevated blood lactate levels; Changed rating: GREEN; Changed publications: PMID: 34636445, 34954817","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-07T15:50:18.623715+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.234","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: PRDM13 as ready","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T15:50:18.612131+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.234","user_name":"Seb Lunke","item_type":"entity","text":"Gene: prdm13 has been classified as Amber List (Moderate Evidence).","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T15:48:48.206701+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.234","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: PRDM13 as Amber List (moderate evidence)","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T15:48:48.196767+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.234","user_name":"Seb Lunke","item_type":"entity","text":"Gene: prdm13 has been classified as Amber List (Moderate Evidence).","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T15:48:20.051675+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.233","user_name":"Seb Lunke","item_type":"entity","text":"gene: PRDM13 was added\ngene: PRDM13 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM13 were set to 34730112\nPhenotypes for gene: PRDM13 were set to congenital hypogonadotropic hypogonadism, MONDO:0015770\nReview for gene: PRDM13 was set to AMBER\nAdded comment: Recessive disease causing ID and DSD described in three supposedly unrelated families (2 consanguine), but all are from Malta, and all share the same 13bp deletion spanning an exon-intron boundary. Mouse KO is embryonically lethal, and tissue specific KO failed to replicate many of the patients phenotypes, other than hypoplasia of the cerebellar vermis and hemispheres at P21. \nSources: Literature","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T15:48:00.345585+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4420","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: CCND2 as ready","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:48:00.334884+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4420","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ccnd2 has been classified as Green List (High Evidence).","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:47:56.536271+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4420","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment on phenotypes: Distal variants associated with Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3\r\n\r\nProximal variants associated with reciprocal phenotype of mild neurodevelopment disorder with microcephaly and short stature","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:47:56.507269+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4420","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: CCND2 were changed from  to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM# 615938; Neurodevelopmental disorder, CCND2-related MONDO: 0700092; Microcephaly, MONDO: 0001149","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:46:57.774065+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10561","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: PRDM13: Rating: AMBER; Mode of pathogenicity: None; Publications: 34730112; Phenotypes: intellectual disability, MONDO:0001071, PRDM13-associated, ataxia with cerebellar hypoplasia, MONDO:MONDO:0016054. PRDM13-associated, congenital hypogonadotropic hypogonadism, MONDO:0015770 Edit; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-01-07T15:44:05.417745+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4419","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: CCND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:37:31.315126+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10561","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: CCND2 as ready","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:37:31.305921+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10561","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ccnd2 has been classified as Green List (High Evidence).","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:36:35.308846+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10561","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: CCND2 were changed from  to Neurodevelopmental disorder, CCND2-related MONDO: 0700092; Microcephaly, MONDO: 0001149; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM# 615938","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:34:48.517978+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.153","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: PPIA as ready","entity_name":"PPIA","entity_type":"gene"},{"created":"2022-01-07T15:34:48.504657+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.153","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ppia has been classified as Red List (Low Evidence).","entity_name":"PPIA","entity_type":"gene"},{"created":"2022-01-07T15:34:46.174848+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.153","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: PPIA were changed from amyotrophic lateral sclerosis, MONDO:0004976 to amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated","entity_name":"PPIA","entity_type":"gene"},{"created":"2022-01-07T15:33:56.563672+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.152","user_name":"Seb Lunke","item_type":"entity","text":"gene: PPIA was added\ngene: PPIA was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: PPIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPIA were set to 34972208\nPhenotypes for gene: PPIA were set to amyotrophic lateral sclerosis, MONDO:0004976\nReview for gene: PPIA was set to RED\nAdded comment: Sources: Literature","entity_name":"PPIA","entity_type":"gene"},{"created":"2022-01-07T15:33:55.416291+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10560","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: CCND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:31:54.369927+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.90","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: CCND2 as ready","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:31:54.360681+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.90","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ccnd2 has been classified as Green List (High Evidence).","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:31:44.387221+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.90","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: CCND2 as Green List (high evidence)","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:31:44.374951+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.90","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ccnd2 has been classified as Green List (High Evidence).","entity_name":"CCND2","entity_type":"gene"},{"created":"2022-01-07T15:30:57.103550+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.8","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: CRACR2A as ready","entity_name":"CRACR2A","entity_type":"gene"},{"created":"2022-01-07T15:30:57.089733+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.8","user_name":"Seb Lunke","item_type":"entity","text":"Gene: cracr2a has been classified as Red List (Low Evidence).","entity_name":"CRACR2A","entity_type":"gene"},{"created":"2022-01-07T15:30:44.923146+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.8","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: CRACR2A were changed from HP:0005387; late onset combined immunodeficiency to primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated; late onset combined immunodeficiency","entity_name":"CRACR2A","entity_type":"gene"},{"created":"2022-01-07T15:30:34.712715+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: IFT140 as ready","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T15:30:34.703025+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ift140 has been classified as Green List (High Evidence).","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T15:30:30.843481+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: IFT140 as Green List (high evidence)","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T15:30:30.833204+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ift140 has been classified as Green List (High Evidence).","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T15:27:06.194903+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.7","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: CRACR2A as Red List (low evidence)","entity_name":"CRACR2A","entity_type":"gene"},{"created":"2022-01-07T15:27:06.185403+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.7","user_name":"Seb Lunke","item_type":"entity","text":"Gene: cracr2a has been classified as Red List (Low Evidence).","entity_name":"CRACR2A","entity_type":"gene"},{"created":"2022-01-07T15:25:47.377176+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10559","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781; Cystic Kidney Disease, MONDO: 0002473","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T15:25:47.039219+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.19","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: TOPORS were changed from Retinitis pigmentosa 31 (MIM#609923) to ciliopathy, MONDO:0005308, TOPORS-associated; postaxial polydactyly, MONDO:0020927, TOPORS-related; multiple lingual hamartomas","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-01-07T15:22:50.748440+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.18","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: TOPORS were set to 21159800; 17924349; 28453362; 18509552","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-01-07T15:22:38.344805+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4418","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: NAA10 as ready","entity_name":"NAA10","entity_type":"gene"},{"created":"2022-01-07T15:22:38.332434+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4418","user_name":"Alison Yeung","item_type":"entity","text":"Gene: naa10 has been classified as Green List (High Evidence).","entity_name":"NAA10","entity_type":"gene"},{"created":"2022-01-07T15:22:07.739155+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.6","user_name":"Dean Phelan","item_type":"entity","text":"gene: CRACR2A was added\ngene: CRACR2A was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: CRACR2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRACR2A were set to PMID:34908525\nPhenotypes for gene: CRACR2A were set to HP:0005387; late onset combined immunodeficiency\nReview for gene: CRACR2A was set to RED\nAdded comment: PMID:34908525 - one patient compound het (missense and PTC) with late onset combined immunodeficiency (current chest infections, panhypogammaglobulinemia and CD4+T cell lymphopenia). Functional studies showed defective JNK phosphorylation, defective SOCE and impaired cytokine production.\r\n\r\nFurther search did not identify any additional publications. \nSources: Literature","entity_name":"CRACR2A","entity_type":"gene"},{"created":"2022-01-07T15:21:55.620624+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.17","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: TOPORS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-01-07T15:21:21.118298+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.16","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: TOPORS as Amber List (moderate evidence)","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-01-07T15:21:21.112847+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.16","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Amber for recessive ciliopathy","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-01-07T15:21:21.073890+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.16","user_name":"Seb Lunke","item_type":"entity","text":"Gene: topors has been classified as Amber List (Moderate Evidence).","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-01-07T15:20:23.685418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10558","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: PPIA as ready","entity_name":"PPIA","entity_type":"gene"},{"created":"2022-01-07T15:20:23.674690+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10558","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ppia has been classified as Red List (Low Evidence).","entity_name":"PPIA","entity_type":"gene"},{"created":"2022-01-07T15:16:40.479485+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10558","user_name":"Naomi Baker","item_type":"entity","text":"gene: ATP5G3 was added\ngene: ATP5G3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP5G3 were set to PMID: 34636445\nPhenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM#619681\nReview for gene: ATP5G3 was set to AMBER\nAdded comment: Note that new gene name is ATP5MC3.\r\n\r\nPaper reports the same missense variant identified in a large single-family pedigree with dystonia and spastic paraplegia, and also de novo in a patient with childhood onset dystonic syndrome. Drosophila model with missense variant also studied.  Functional studies of fibroblast  cells lines from affected father and proband demonstrated decreased complex V function. \nSources: Literature","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-07T15:14:27.887467+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.15","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: TOPORS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:34132027; Phenotypes: MONDO:0005308, ciliopathy, postaxial polydactyly, multiple lingual hamartomas, dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-01-07T15:14:13.148939+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10558","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: RPL10L as ready","entity_name":"RPL10L","entity_type":"gene"},{"created":"2022-01-07T15:14:13.135619+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10558","user_name":"Alison Yeung","item_type":"entity","text":"Gene: rpl10l has been classified as Amber List (Moderate Evidence).","entity_name":"RPL10L","entity_type":"gene"},{"created":"2022-01-07T15:14:06.339091+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10558","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: PPIA as Red List (low evidence)","entity_name":"PPIA","entity_type":"gene"},{"created":"2022-01-07T15:14:06.328546+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10558","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ppia has been classified as Red List (Low Evidence).","entity_name":"PPIA","entity_type":"gene"},{"created":"2022-01-07T15:14:05.370823+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10558","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: RPL10L as Amber List (moderate evidence)","entity_name":"RPL10L","entity_type":"gene"},{"created":"2022-01-07T15:14:05.364942+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10558","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment on list classification: heterozygous variants in three unrelated patients presenting with azoospermia. Given the common phenotype, need a few more cases to convert to green list.","entity_name":"RPL10L","entity_type":"gene"},{"created":"2022-01-07T15:14:05.291143+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10558","user_name":"Alison Yeung","item_type":"entity","text":"Gene: rpl10l has been classified as Amber List (Moderate Evidence).","entity_name":"RPL10L","entity_type":"gene"},{"created":"2022-01-07T15:11:31.861197+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10557","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: DNHD1 as ready","entity_name":"DNHD1","entity_type":"gene"},{"created":"2022-01-07T15:11:31.847449+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10557","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dnhd1 has been classified as Green List (High Evidence).","entity_name":"DNHD1","entity_type":"gene"},{"created":"2022-01-07T15:10:02.660254+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10557","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: DNHD1 as Green List (high evidence)","entity_name":"DNHD1","entity_type":"gene"},{"created":"2022-01-07T15:10:02.647381+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10557","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dnhd1 has been classified as Green List (High Evidence).","entity_name":"DNHD1","entity_type":"gene"},{"created":"2022-01-07T15:08:24.207208+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.32","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: CHD7 as ready","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-01-07T15:08:24.196907+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.32","user_name":"Seb Lunke","item_type":"entity","text":"Gene: chd7 has been classified as Green List (High Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-01-07T15:07:55.982902+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.32","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: CHD7 were changed from CHARGE syndrome; bi-coronal craniosynostosis; premature synostosis of the left lambdoid and squamous sutures to CHARGE syndrome, MIM#214800; bi-coronal craniosynostosis, MONDO:0015469, CHD7-associated","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-01-07T15:04:47.119400+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.31","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: CHD7 as Green List (high evidence)","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-01-07T15:04:47.110082+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.31","user_name":"Seb Lunke","item_type":"entity","text":"Gene: chd7 has been classified as Green List (High Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-01-07T15:02:19.903961+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.129","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: TLR8 as ready","entity_name":"TLR8","entity_type":"gene"},{"created":"2022-01-07T15:02:19.892416+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.129","user_name":"Seb Lunke","item_type":"entity","text":"Gene: tlr8 has been classified as Red List (Low Evidence).","entity_name":"TLR8","entity_type":"gene"},{"created":"2022-01-07T15:02:02.272866+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.129","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: TLR8 were changed from Severe autoimmune hemolytic anemia and autoinflammation to periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated","entity_name":"TLR8","entity_type":"gene"},{"created":"2022-01-07T14:59:29.050321+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.128","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: TLR8 as Red List (low evidence)","entity_name":"TLR8","entity_type":"gene"}]}