{"count":220828,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1004","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1002","results":[{"created":"2022-02-08T20:24:24.972270+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc32 has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC32","entity_type":"gene"},{"created":"2022-02-08T20:23:54.029056+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3177","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN8A as ready","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-02-08T20:23:54.018185+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn8a has been classified as Red List (Low Evidence).","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-02-08T20:23:50.532729+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3177","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN8A were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA to Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive; Myoclonus, familial, 2, MIM# 618364; paroxysmal kinesigenic dyskinesias; Cognitive impairment with or without cerebellar ataxia, MIM# 614306","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-02-08T20:23:11.397468+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3176","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFWD3 as ready","entity_name":"RFWD3","entity_type":"gene"},{"created":"2022-02-08T20:23:11.382285+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfwd3 has been classified as Red List (Low Evidence).","entity_name":"RFWD3","entity_type":"gene"},{"created":"2022-02-08T20:23:07.801344+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3176","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RFWD3 were changed from ?Fanconi anemia, complementation group W, OMIM:617784 to Fanconi anaemia, complementation group W, OMIM:617784","entity_name":"RFWD3","entity_type":"gene"},{"created":"2022-02-08T14:52:27.287035+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10938","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:52:21.861204+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4495","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:52:17.976055+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.114","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:52:13.654570+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.102","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:52:08.339479+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.34","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:50:41.812217+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.34","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Broly, M. et al. (2022) manuscript accepted in AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:50:33.770487+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.102","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Broly, M. et al. (2022) manuscript accepted in AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:50:20.323987+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.114","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Broly, M. et al. (2022) manuscript accepted in AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:50:09.244874+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10938","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Broly, M. et al. (2022): \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:50:02.486105+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4495","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Broly, M. et al. (2022) manuscript accepted in AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:49:38.696493+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10938","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Broly, M. et al. (2022) manuscript accepted in AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \nSources: Other; to: Broly, M. et al. (2022): \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:48:55.759680+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.102","user_name":"Chern Lim","item_type":"entity","text":"gene: THUMPD1 was added\ngene: THUMPD1 was added to Microcephaly. Sources: Other\nMode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: THUMPD1 were set to Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR\nReview for gene: THUMPD1 was set to GREEN\ngene: THUMPD1 was marked as current diagnostic\nAdded comment: Broly, M. et al. (2022) manuscript accepted in AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:48:49.495943+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.34","user_name":"Chern Lim","item_type":"entity","text":"gene: THUMPD1 was added\ngene: THUMPD1 was added to Growth failure. Sources: Other\nMode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: THUMPD1 were set to Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR\nReview for gene: THUMPD1 was set to GREEN\ngene: THUMPD1 was marked as current diagnostic\nAdded comment: Broly, M. et al. (2022) manuscript accepted in AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:47:37.254876+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.114","user_name":"Chern Lim","item_type":"entity","text":"gene: THUMPD1 was added\ngene: THUMPD1 was added to Deafness_IsolatedAndComplex. Sources: Other\nMode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: THUMPD1 were set to Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR\nReview for gene: THUMPD1 was set to GREEN\ngene: THUMPD1 was marked as current diagnostic\nAdded comment: Broly, M. et al. (2022) manuscript accepted in AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:46:28.608579+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4495","user_name":"Chern Lim","item_type":"entity","text":"gene: THUMPD1 was added\ngene: THUMPD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: THUMPD1 were set to Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR\ngene: THUMPD1 was marked as current diagnostic\nAdded comment: Broly, M. et al. (2022) manuscript accepted in AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T14:44:23.198084+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10938","user_name":"Chern Lim","item_type":"entity","text":"gene: THUMPD1 was added\ngene: THUMPD1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: THUMPD1 were set to Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR\nReview for gene: THUMPD1 was set to GREEN\ngene: THUMPD1 was marked as current diagnostic\nAdded comment: Broly, M. et al. (2022) manuscript accepted in AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \nSources: Other","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-02-08T11:58:08.934500+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB39B as ready","entity_name":"RAB39B","entity_type":"gene"},{"created":"2022-02-08T11:58:08.919645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab39b has been classified as Red List (Low Evidence).","entity_name":"RAB39B","entity_type":"gene"},{"created":"2022-02-08T11:58:05.344899+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB39B were changed from MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS to Intellectual developmental disorder, X-linked 72 MIM#300271; Waisman syndrome MIM#311510","entity_name":"RAB39B","entity_type":"gene"},{"created":"2022-02-08T11:57:50.923365+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3174","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB39B were set to 29152164; 20159109","entity_name":"RAB39B","entity_type":"gene"},{"created":"2022-02-08T11:57:16.305565+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10938","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB39B as ready","entity_name":"RAB39B","entity_type":"gene"},{"created":"2022-02-08T11:57:16.293049+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10938","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab39b has been classified as Green List (High Evidence).","entity_name":"RAB39B","entity_type":"gene"},{"created":"2022-02-08T11:57:06.366192+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10938","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB39B were changed from  to Intellectual developmental disorder, X-linked 72 MIM#300271; Waisman syndrome MIM#311510","entity_name":"RAB39B","entity_type":"gene"},{"created":"2022-02-08T11:56:28.532897+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10937","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB39B were set to ","entity_name":"RAB39B","entity_type":"gene"},{"created":"2022-02-08T11:56:01.511455+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10936","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB39B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RAB39B","entity_type":"gene"},{"created":"2022-02-08T11:55:17.929986+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MASP2 were set to ","entity_name":"MASP2","entity_type":"gene"},{"created":"2022-02-08T11:51:54.352418+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP6 as ready","entity_name":"LRP6","entity_type":"gene"},{"created":"2022-02-08T11:51:54.340899+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp6 has been classified as Amber List (Moderate Evidence).","entity_name":"LRP6","entity_type":"gene"},{"created":"2022-02-08T11:51:46.092162+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3173","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRP6 as Amber List (moderate evidence)","entity_name":"LRP6","entity_type":"gene"},{"created":"2022-02-08T11:51:46.082252+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp6 has been classified as Amber List (Moderate Evidence).","entity_name":"LRP6","entity_type":"gene"},{"created":"2022-02-08T11:51:14.910425+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3172","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTCHD1 as ready","entity_name":"PTCHD1","entity_type":"gene"},{"created":"2022-02-08T11:51:14.896511+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptchd1 has been classified as Red List (Low Evidence).","entity_name":"PTCHD1","entity_type":"gene"},{"created":"2022-02-08T11:51:08.470383+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTCHD1 were changed from AUTISM/ID to intellectual disability MIM#300830","entity_name":"PTCHD1","entity_type":"gene"},{"created":"2022-02-08T11:50:55.207265+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3171","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTCHD1 were set to ","entity_name":"PTCHD1","entity_type":"gene"},{"created":"2022-02-08T11:50:27.943583+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10935","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTCHD1 as ready","entity_name":"PTCHD1","entity_type":"gene"},{"created":"2022-02-08T11:50:27.931756+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10935","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptchd1 has been classified as Green List (High Evidence).","entity_name":"PTCHD1","entity_type":"gene"},{"created":"2022-02-08T11:50:20.056883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10935","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTCHD1 were changed from  to intellectual disability MIM#300830","entity_name":"PTCHD1","entity_type":"gene"},{"created":"2022-02-08T11:49:56.411797+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10934","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTCHD1 were set to ","entity_name":"PTCHD1","entity_type":"gene"},{"created":"2022-02-08T11:47:28.510438+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10933","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTCHD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PTCHD1","entity_type":"gene"},{"created":"2022-02-08T11:46:53.254326+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3170","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSMB8 as ready","entity_name":"PSMB8","entity_type":"gene"},{"created":"2022-02-08T11:46:53.241937+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmb8 has been classified as Red List (Low Evidence).","entity_name":"PSMB8","entity_type":"gene"},{"created":"2022-02-08T11:46:49.730173+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3170","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSMB8 were changed from NAKAJO SYNDROME to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698","entity_name":"PSMB8","entity_type":"gene"},{"created":"2022-02-08T11:46:36.940627+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3169","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PSMB8 were set to ","entity_name":"PSMB8","entity_type":"gene"},{"created":"2022-02-08T11:35:50.602977+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3168","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRSS12 as ready","entity_name":"PRSS12","entity_type":"gene"},{"created":"2022-02-08T11:35:50.590279+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prss12 has been classified as Red List (Low Evidence).","entity_name":"PRSS12","entity_type":"gene"},{"created":"2022-02-08T11:35:43.666512+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3168","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRSS12 were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 to Intellectual disability, PRSS12 related MIM#249500","entity_name":"PRSS12","entity_type":"gene"},{"created":"2022-02-08T11:35:28.819374+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3167","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRSS12 were set to ","entity_name":"PRSS12","entity_type":"gene"},{"created":"2022-02-08T11:34:52.485705+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRPS1 as ready","entity_name":"PRPS1","entity_type":"gene"},{"created":"2022-02-08T11:34:52.472724+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prps1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRPS1","entity_type":"gene"},{"created":"2022-02-08T11:34:48.722360+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRPS1 were changed from DEAFNESS X-LINKED TYPE 1; PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY; CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5; ARTS SYNDROME to Arts syndrome MIM#301835","entity_name":"PRPS1","entity_type":"gene"},{"created":"2022-02-08T11:34:31.906895+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3165","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRPS1 were set to ","entity_name":"PRPS1","entity_type":"gene"},{"created":"2022-02-08T11:34:20.553352+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3164","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRPS1 as Amber List (moderate evidence)","entity_name":"PRPS1","entity_type":"gene"},{"created":"2022-02-08T11:34:20.529277+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prps1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRPS1","entity_type":"gene"},{"created":"2022-02-08T11:32:35.744933+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3163","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: The mono-allelic condition is relevant antenatally. However, only 2 individuals reported.\r\n\r\nDEE tends to present post-natally.; to: Condition causing multiple congenital anomalies is postulated to be due to GoF variants. However, only 2 individuals reported.\r\n\r\nDEE postulated to be due to LoF variants, and presents post-natally.","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2022-02-08T11:30:43.622157+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10932","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP3CA as ready","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2022-02-08T11:30:43.611644+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10932","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp3ca has been classified as Green List (High Evidence).","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2022-02-08T11:25:27.701969+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10932","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP3CA were changed from  to Developmental and epileptic encephalopathy 91, MIM#617711; Arthrogryposis, cleft palate, craniosynostosis and impaired intellectual development, MIM#618265","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2022-02-08T11:24:56.500140+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10931","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPP3CA were set to ","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2022-02-08T11:24:36.860487+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10930","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PPP3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2022-02-08T11:23:59.175020+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPT1 as ready","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-02-08T11:23:59.163753+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppt1 has been classified as Red List (Low Evidence).","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-02-08T11:23:55.630215+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPT1 were changed from NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-02-08T11:23:43.329654+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3162","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPT1 were set to ","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-02-08T11:23:13.867321+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3161","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPA2 as ready","entity_name":"PPA2","entity_type":"gene"},{"created":"2022-02-08T11:23:13.856130+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppa2 has been classified as Red List (Low Evidence).","entity_name":"PPA2","entity_type":"gene"},{"created":"2022-02-08T11:23:09.711211+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3161","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPA2 were changed from Sudden arrhythmic cardiac death after infectious or alcohol trigger to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222","entity_name":"PPA2","entity_type":"gene"},{"created":"2022-02-08T11:22:49.974646+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3160","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPA2 were set to ","entity_name":"PPA2","entity_type":"gene"},{"created":"2022-02-08T11:22:20.994790+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3159","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLP1 as ready","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-02-08T11:22:20.983209+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plp1 has been classified as Red List (Low Evidence).","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-02-08T11:22:16.814017+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3159","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLP1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 1; SPASTIC PARAPLEGIA X-LINKED TYPE 2 to Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-02-08T11:22:03.593667+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3158","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLP1 were set to ","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-02-08T11:21:30.151452+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10929","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLP1 as ready","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-02-08T11:21:30.136228+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10929","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plp1 has been classified as Green List (High Evidence).","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-02-08T11:20:43.977064+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10929","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLP1 were changed from  to Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-02-08T11:20:22.501663+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10928","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLP1 were set to ","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-02-08T11:19:43.551057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10927","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-02-08T11:18:47.035959+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10926","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LDB3 as ready","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-02-08T11:18:47.024328+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10926","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldb3 has been classified as Green List (High Evidence).","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-02-08T11:17:27.781005+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10926","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LDB3 were changed from  to Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493; Cardiomyopathy, hypertrophic, 24 MIM#601493; Left ventricular noncompaction 3 MIM#601493; Myopathy, myofibrillar, 4 MIM#609452","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-02-08T11:17:06.865700+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10925","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LDB3 were set to ","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-02-08T11:15:28.219211+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10924","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LDB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-02-08T11:14:45.581399+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3157","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LDB3 as ready","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-02-08T11:14:45.570768+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldb3 has been classified as Red List (Low Evidence).","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-02-08T11:14:41.546896+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3157","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LDB3 were changed from MYOPATHY MYOFIBRILLAR TYPE 4; LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C to Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493; Cardiomyopathy, hypertrophic, 24 MIM#601493; Left ventricular noncompaction 3 MIM#601493; Myopathy, myofibrillar, 4 MIM#609452","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-02-08T11:14:27.291416+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3156","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LDB3 were set to 17394203","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-02-08T11:14:15.701224+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3155","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LDB3","entity_type":"gene"},{"created":"2022-02-08T11:13:38.267567+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3154","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:IL17RD from the panel","entity_name":null,"entity_type":null},{"created":"2022-02-08T11:12:38.804809+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3153","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IGSF1: Changed rating: RED","entity_name":"IGSF1","entity_type":"gene"},{"created":"2022-02-08T10:15:28.834863+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3153","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGSF1 as ready","entity_name":"IGSF1","entity_type":"gene"},{"created":"2022-02-08T10:15:28.828576+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3153","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Not LGA, unlikely to present antenatally","entity_name":"IGSF1","entity_type":"gene"},{"created":"2022-02-08T10:15:28.790353+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igsf1 has been classified as Red List (Low Evidence).","entity_name":"IGSF1","entity_type":"gene"},{"created":"2022-02-08T10:14:49.829400+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3153","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGSF1 were changed from CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT to Hypothyroidism, central, and testicular enlargement MIM#300888","entity_name":"IGSF1","entity_type":"gene"},{"created":"2022-02-08T10:14:37.150401+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3152","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGSF1 were set to ","entity_name":"IGSF1","entity_type":"gene"}]}