{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=555","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=553","results":[{"created":"2023-09-01T08:15:55.779260+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5357","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system","entity_name":"UBAP2L","entity_type":"gene"},{"created":"2023-09-01T08:15:15.134974+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5356","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UBAP2L: Changed phenotypes: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494","entity_name":"UBAP2L","entity_type":"gene"},{"created":"2023-09-01T08:14:16.890322+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5356","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP3B1 as ready","entity_name":"AP3B1","entity_type":"gene"},{"created":"2023-09-01T08:14:16.881146+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5356","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3b1 has been classified as Green List (High Evidence).","entity_name":"AP3B1","entity_type":"gene"},{"created":"2023-09-01T08:14:12.695755+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5356","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP3B1 were changed from  to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997","entity_name":"AP3B1","entity_type":"gene"},{"created":"2023-09-01T08:13:40.625600+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5355","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP3B1 were set to ","entity_name":"AP3B1","entity_type":"gene"},{"created":"2023-09-01T08:13:05.442462+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5354","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B1","entity_type":"gene"},{"created":"2023-09-01T08:12:29.334348+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5353","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B1","entity_type":"gene"},{"created":"2023-09-01T08:10:07.362277+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMT as ready","entity_name":"AMT","entity_type":"gene"},{"created":"2023-09-01T08:10:07.334129+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amt has been classified as Green List (High Evidence).","entity_name":"AMT","entity_type":"gene"},{"created":"2023-09-01T08:10:04.557063+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMT were changed from  to Glycine encephalopathy MIM#605899","entity_name":"AMT","entity_type":"gene"},{"created":"2023-09-01T08:09:35.070751+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.503","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMT were set to ","entity_name":"AMT","entity_type":"gene"},{"created":"2023-09-01T08:09:07.112984+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMT","entity_type":"gene"},{"created":"2023-09-01T08:08:35.057708+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.501","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33791923; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMT","entity_type":"gene"},{"created":"2023-09-01T08:05:02.037247+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5353","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMT as ready","entity_name":"AMT","entity_type":"gene"},{"created":"2023-09-01T08:05:02.026635+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5353","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amt has been classified as Green List (High Evidence).","entity_name":"AMT","entity_type":"gene"},{"created":"2023-09-01T08:04:55.298683+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5353","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMT were changed from  to Glycine encephalopathy MIM#605899","entity_name":"AMT","entity_type":"gene"},{"created":"2023-09-01T08:04:17.374842+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5352","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMT","entity_type":"gene"},{"created":"2023-09-01T08:03:42.642747+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5351","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMT","entity_type":"gene"},{"created":"2023-08-31T21:05:50.691012+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5351","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH18A1 as ready","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2023-08-31T21:05:50.672993+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5351","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh18a1 has been classified as Green List (High Evidence).","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2023-08-31T21:05:45.978137+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5351","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH18A1 were changed from  to Spastic paraplegia 9B, autosomal recessive, MIM# 616586","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2023-08-31T21:05:12.639515+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5350","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALDH18A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2023-08-31T21:04:37.855345+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5349","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 9B, autosomal recessive, MIM# 616586; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2023-08-31T21:01:35.285679+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5349","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AIFM1 as ready","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-08-31T21:01:35.261680+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5349","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aifm1 has been classified as Green List (High Evidence).","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-08-31T21:01:25.923706+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5349","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AIFM1 were changed from  to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-08-31T21:00:50.808337+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5348","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-08-31T21:00:17.589580+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5347","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-08-31T20:57:01.043232+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5347","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADSL as ready","entity_name":"ADSL","entity_type":"gene"},{"created":"2023-08-31T20:57:01.025627+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adsl has been classified as Green List (High Evidence).","entity_name":"ADSL","entity_type":"gene"},{"created":"2023-08-31T20:56:56.407901+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5347","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADSL were changed from  to Adenylosuccinase deficiency, MIM# 103050","entity_name":"ADSL","entity_type":"gene"},{"created":"2023-08-31T20:56:23.431711+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5346","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADSL","entity_type":"gene"},{"created":"2023-08-31T20:55:49.172551+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5345","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenylosuccinase deficiency, MIM# 103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADSL","entity_type":"gene"},{"created":"2023-08-31T20:54:50.620396+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5345","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADGRG1 as ready","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2023-08-31T20:54:50.606248+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg1 has been classified as Green List (High Evidence).","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2023-08-31T20:54:45.247072+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5345","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADGRG1 were changed from  to Polymicrogyria, bilateral frontoparietal, MIM# 606854","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2023-08-31T20:54:14.684531+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5344","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADGRG1 were set to ","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2023-08-31T20:53:37.837174+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5343","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADGRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2023-08-31T20:53:05.375453+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5342","user_name":"Zornitza Stark","item_type":"entity","text":"Tag 5'UTR tag was added to gene: ADGRG1.","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2023-08-31T20:52:54.925044+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5342","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336; Phenotypes: Polymicrogyria, bilateral frontoparietal 606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2023-08-31T20:49:02.798873+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5342","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEUROG1 as ready","entity_name":"NEUROG1","entity_type":"gene"},{"created":"2023-08-31T20:49:02.786729+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5342","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: neurog1 has been classified as Green List (High Evidence).","entity_name":"NEUROG1","entity_type":"gene"},{"created":"2023-08-31T20:48:55.564369+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5342","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NEUROG1 as Green List (high evidence)","entity_name":"NEUROG1","entity_type":"gene"},{"created":"2023-08-31T20:48:55.552476+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5342","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: neurog1 has been classified as Green List (High Evidence).","entity_name":"NEUROG1","entity_type":"gene"},{"created":"2023-08-31T20:48:22.077056+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5341","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEUROG1 was added\ngene: NEUROG1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NEUROG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078\nPhenotypes for gene: NEUROG1 were set to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469\nReview for gene: NEUROG1 was set to GREEN\nAdded comment: There are four unrelated cases reported with global developmental delay/ intellectual disability. \r\n\r\nPMID:23419067 - A homozygous micro deletion of NEUROG1 was identified in a six year-old boy presenting with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild global developmental delay. His IQ was normal.\r\n\r\nPMID:26077850 - A homozygous NEUROG1 variant (p.Arg116Leu) was identified in a 12 year-old boy presented with syndromic corneal opacity, mild intellectual disability and absent corneal reflex.\r\n\r\nPMID:33439489 - A homozygous loss-of-function variant (p.Glu68Ter) was identified in a 12 year-old boy presenting with hypotonia, global developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. This patient had a global IQ of 62 at the age of ten.\r\n\r\nPMID:36647078 - A female proband was identified with a novel homozygous truncating frameshift variant (p.Thr78ProfsTer122 and was reported with profound global developmental delay, autism spectrum disorder, hearing loss, corneal opacity and no eye blinking. Her sister also had a similar, but less severe phenotype and also harboured the same variant at homozygous state. \nSources: Literature","entity_name":"NEUROG1","entity_type":"gene"},{"created":"2023-08-31T20:47:16.476684+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEUROG1 as ready","entity_name":"NEUROG1","entity_type":"gene"},{"created":"2023-08-31T20:47:16.469036+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: neurog1 has been classified as Green List (High Evidence).","entity_name":"NEUROG1","entity_type":"gene"},{"created":"2023-08-31T20:46:05.589326+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NEUROG1 as Green List (high evidence)","entity_name":"NEUROG1","entity_type":"gene"},{"created":"2023-08-31T20:46:05.581192+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: neurog1 has been classified as Green List (High Evidence).","entity_name":"NEUROG1","entity_type":"gene"},{"created":"2023-08-31T12:33:53.828102+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5340","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRSF1 were changed from Neurodevelopmental disorder, SRSF1-related MONDO:0700092 to Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-08-31T12:33:16.919899+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5339","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SRSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-08-31T12:32:50.942067+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1128","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRSF1 were changed from Neurodevelopmental disorder, SRSF1-related MONDO:0700092 to Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-08-31T12:32:25.720486+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1127","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SRSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SRSF1","entity_type":"gene"},{"created":"2023-08-30T12:35:14.692419+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPM4 were changed from leeding disorder, platelet-type, 25, MIM# 620486 to Bleeding disorder, platelet-type, 25, MIM# 620486","entity_name":"TPM4","entity_type":"gene"},{"created":"2023-08-30T12:35:02.274452+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TPM4 as ready","entity_name":"TPM4","entity_type":"gene"},{"created":"2023-08-30T12:35:02.264904+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpm4 has been classified as Green List (High Evidence).","entity_name":"TPM4","entity_type":"gene"},{"created":"2023-08-30T12:35:00.268101+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPM4 were changed from Macrothrombocytopenia to leeding disorder, platelet-type, 25, MIM# 620486","entity_name":"TPM4","entity_type":"gene"},{"created":"2023-08-30T12:34:46.199790+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TPM4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Bleeding disorder, platelet-type, 25, MIM# 620486; Mode of inheritance: None","entity_name":"TPM4","entity_type":"gene"},{"created":"2023-08-30T12:34:22.634673+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1127","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPM4 were changed from Macrothrombocytopaenia to Bleeding disorder, platelet-type, 25, MIM# 620486","entity_name":"TPM4","entity_type":"gene"},{"created":"2023-08-30T12:33:58.468629+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1126","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TPM4: Changed phenotypes: Bleeding disorder, platelet-type, 25, MIM# 620486","entity_name":"TPM4","entity_type":"gene"},{"created":"2023-08-30T12:32:24.000150+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPM4 were changed from Macrothrombocytopenia to Bleeding disorder, platelet-type, 25, MIM# 620486","entity_name":"TPM4","entity_type":"gene"},{"created":"2023-08-30T12:31:47.198436+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TPM4: Changed phenotypes: Bleeding disorder, platelet-type, 25, MIM# 620486","entity_name":"TPM4","entity_type":"gene"},{"created":"2023-08-30T12:30:55.712695+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPRJ were changed from Thrombocytopaenia to Thrombocytopenia 10, MIM# 620484","entity_name":"PTPRJ","entity_type":"gene"},{"created":"2023-08-30T12:30:31.489625+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1125","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PTPRJ: Changed phenotypes: Thrombocytopenia 10, MIM# 620484","entity_name":"PTPRJ","entity_type":"gene"},{"created":"2023-08-30T12:30:15.771368+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPRJ were changed from Thrombocytopaenia to Thrombocytopenia 10, MIM# 620484","entity_name":"PTPRJ","entity_type":"gene"},{"created":"2023-08-30T12:29:36.943119+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PTPRJ: Changed phenotypes: Thrombocytopenia 10, MIM# 620484","entity_name":"PTPRJ","entity_type":"gene"},{"created":"2023-08-30T12:27:22.547087+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THPO as ready","entity_name":"THPO","entity_type":"gene"},{"created":"2023-08-30T12:27:22.527121+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thpo has been classified as Green List (High Evidence).","entity_name":"THPO","entity_type":"gene"},{"created":"2023-08-30T12:27:15.032514+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THPO as Green List (high evidence)","entity_name":"THPO","entity_type":"gene"},{"created":"2023-08-30T12:27:15.019755+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thpo has been classified as Green List (High Evidence).","entity_name":"THPO","entity_type":"gene"},{"created":"2023-08-30T12:26:43.511940+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"gene: THPO was added\ngene: THPO was added to Bone Marrow Failure. Sources: Expert Review\nMode of inheritance for gene: THPO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: THPO were set to 24085763; 28559357; 29191945; 36226497\nPhenotypes for gene: THPO were set to Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481\nReview for gene: THPO was set to GREEN\nAdded comment: 5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure. \nSources: Expert Review","entity_name":"THPO","entity_type":"gene"},{"created":"2023-08-30T12:24:22.925025+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1125","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: THPO: Added comment: 5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure.; Changed publications: 9425899, 10583217, 32150607, 28466964, 24085763, 28559357, 29191945, 36226497; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478, Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"THPO","entity_type":"gene"},{"created":"2023-08-30T12:17:15.429780+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM#\t187950; Thrombocytopenia 9, MIM# 620478 to Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478; Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481","entity_name":"THPO","entity_type":"gene"},{"created":"2023-08-30T12:16:38.755801+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: THPO were set to 9425899; 10583217; 32150607; 28466964","entity_name":"THPO","entity_type":"gene"},{"created":"2023-08-30T12:16:03.062154+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: THPO: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"THPO","entity_type":"gene"},{"created":"2023-08-30T12:15:50.945168+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: THPO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"THPO","entity_type":"gene"},{"created":"2023-08-30T12:15:19.630928+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: THPO: Added comment: 5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure.; Changed publications: 9425899, 10583217, 32150607, 28466964, 24085763, 28559357, 29191945, 36226497; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478, Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"THPO","entity_type":"gene"},{"created":"2023-08-30T10:19:38.897823+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5339","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: CCDC115 as Green List (high evidence)","entity_name":"CCDC115","entity_type":"gene"},{"created":"2023-08-30T10:19:38.872341+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5339","user_name":"Elena Savva","item_type":"entity","text":"Gene: ccdc115 has been classified as Green List (High Evidence).","entity_name":"CCDC115","entity_type":"gene"},{"created":"2023-08-30T10:19:17.520943+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5339","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: CCDC115 as Green List (high evidence)","entity_name":"CCDC115","entity_type":"gene"},{"created":"2023-08-30T10:19:17.489664+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5339","user_name":"Elena Savva","item_type":"entity","text":"Gene: ccdc115 has been classified as Green List (High Evidence).","entity_name":"CCDC115","entity_type":"gene"},{"created":"2023-08-30T10:18:55.624686+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5338","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: CCDC115 as ready","entity_name":"CCDC115","entity_type":"gene"},{"created":"2023-08-30T10:18:55.608379+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5338","user_name":"Elena Savva","item_type":"entity","text":"Gene: ccdc115 has been classified as Red List (Low Evidence).","entity_name":"CCDC115","entity_type":"gene"},{"created":"2023-08-30T10:01:59.104898+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5338","user_name":"Elena Savva","item_type":"entity","text":"gene: CCDC115 was added\ngene: CCDC115 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo MIM# 616828\nReview for gene: CCDC115 was set to GREEN\nAdded comment: Added following CAM discussion \nSources: Literature","entity_name":"CCDC115","entity_type":"gene"},{"created":"2023-08-30T06:26:06.298415+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1125","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"gene: NEUROG1 was added\ngene: NEUROG1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NEUROG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078\nPhenotypes for gene: NEUROG1 were set to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469\nReview for gene: NEUROG1 was set to GREEN\nAdded comment: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be added with green rating in the intellectual disability panel.\r\n\r\nPMID:23419067 - A homozygous micro deletion of NEUROG1 was identified in a six year-old boy presenting with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild global developmental delay. His IQ was normal.\r\n\r\nPMID:26077850 - A homozygous NEUROG1 variant (p.Arg116Leu) was identified in a 12 year-old boy presented with syndromic corneal opacity, mild intellectual disability and absent corneal reflex.\r\n\r\nPMID:33439489 - A homozygous loss-of-function variant (p.Glu68Ter) was identified in a 12 year-old boy presenting with hypotonia, global developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. This patient had a global IQ of 62 at the age of ten.\r\n\r\nPMID:36647078 - A female proband was identified with a novel homozygous truncating frameshift variant (p.Thr78ProfsTer122 and was reported with profound global developmental delay, autism spectrum disorder, hearing loss, corneal opacity and no eye blinking. Her sister also had a similar, but less severe phenotype and also harboured the same variant at homozygous state.\r\n\r\nThis gene has been associated with relevant phenotypes in OMIM (MIM #620469), but not in Gene2Phenotype. \nSources: Literature","entity_name":"NEUROG1","entity_type":"gene"},{"created":"2023-08-29T17:32:26.447032+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PANK2 were changed from pantothenate kinase-associated neurodegeneration MONDO:0009319 to pantothenate kinase-associated neurodegeneration MONDO:0009319","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-08-29T17:32:18.316873+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PANK2 as ready","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-08-29T17:32:18.281874+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank2 has been classified as Green List (High Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-08-29T17:31:57.624909+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PANK2 were changed from pantothenate kinase-associated neurodegeneration MONDO:0009319 to pantothenate kinase-associated neurodegeneration MONDO:0009319","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-08-29T17:31:23.735633+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PANK2 were changed from  to pantothenate kinase-associated neurodegeneration MONDO:0009319","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-08-29T17:30:50.540268+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PANK2 were set to ","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-08-29T17:30:13.006005+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-08-29T17:29:22.942059+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLA2G6 as ready","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-08-29T17:29:22.929146+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g6 has been classified as Green List (High Evidence).","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-08-29T17:29:18.939072+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLA2G6 were changed from  to autosomal recessive Parkinson disease 14 MONDO:0013060","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-08-29T17:28:24.849133+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLA2G6 were set to ","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-08-29T17:27:44.754959+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLA2G6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-08-29T17:26:31.001195+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLG as ready","entity_name":"POLG","entity_type":"gene"},{"created":"2023-08-29T17:26:30.988964+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg has been classified as Green List (High Evidence).","entity_name":"POLG","entity_type":"gene"}]}