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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1080",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1078",
"results": [
{
"created": "2021-12-19T17:47:48.316977+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Green List (High Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:47:37.079269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HHAT was added\ngene: HHAT was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HHAT were set to 24784881; 30912300; 33749989\nPhenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092\nReview for gene: HHAT was set to GREEN\nAdded comment: Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, micromelia, and sex reversal. \nSources: Expert Review",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:46:10.982365+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HHAT were set to 24784881; 30912300",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:45:41.026915+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HHAT as Green List (high evidence)",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:45:41.017550+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Green List (High Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:45:11.569627+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HHAT: Added comment: Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989; Changed phenotypes: Nivelon-Nivelon-Mabille syndrome 600092",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:44:49.806829+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HHAT were set to 24784881; 30912300",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:44:21.237083+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HHAT as Green List (high evidence)",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:44:21.221223+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Green List (High Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:43:54.939576+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: HHAT: Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:43:33.689810+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HHAT: Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:43:14.353163+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HHAT were set to 24784881; 30912300",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:42:48.460826+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HHAT as Green List (high evidence)",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:42:48.451915+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Green List (High Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:42:19.670154+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HHAT: Added comment: Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:40:21.552519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HHAT as Green List (high evidence)",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:40:21.541683+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Green List (High Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:39:57.398856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HHAT: Added comment: Additional family reported.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:39:03.390616+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPIDR were changed from Primary ovarian insufficiency to Ovarian dysgenesis 9, MIM# 619665",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:38:54.562754+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPIDR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 9, MIM# 619665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:38:38.250872+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPIDR as ready",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:38:38.240190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spidr has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:38:29.984631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPIDR were changed from Primary ovarian insufficiency to Ovarian dysgenesis 9, MIM# 619665",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:38:07.928963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPIDR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 9, MIM# 619665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:37:24.639722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF12 were changed from Cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis, progressive familial intrahepatic, 8, MIM# 619662",
"entity_name": "KIF12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:37:07.441918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF12: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 8, MIM# 619662",
"entity_name": "KIF12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:36:53.607432+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF12 were changed from Cholestasis, progressive familial intrahepatic, 8\t619662 to Cholestasis, progressive familial intrahepatic, 8, MIM# 619662",
"entity_name": "KIF12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:36:30.698644+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF12 were changed from Cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis, progressive familial intrahepatic, 8\t619662",
"entity_name": "KIF12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:36:05.103652+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF12: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 8, MIM# 619662",
"entity_name": "KIF12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:35:26.398844+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from Hardikar syndrome, OMIM #612726 to Hardikar syndrome, MIM# 301068",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:35:17.289255+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:34:55.707256+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; Hardikar syndrome, OMIM #612726 to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; Hardikar syndrome, MIM# 301068",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:34:32.575119+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:34:11.326110+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from Hardikar syndrome, OMIM #612726 to Hardikar syndrome, MIM# 301068",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:33:58.007132+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:33:29.087230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, OMIM #612726 to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, MIM# 301068",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:32:56.238008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MED12: Changed phenotypes: Hardikar syndrome, MIM# 301068",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:30:32.779683+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNR were changed from Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653; Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:29:42.788696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNR: Changed phenotypes: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653, Spastic para- or tetraparesis, Axial muscular hypotonia, Intellectual disability, Transient opisthotonus",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:29:21.373190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNR were changed from Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653; Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:29:02.090693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNR: Changed phenotypes: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653, Spastic para- or tetraparesis, Axial muscular hypotonia, Intellectual disability, Transient opisthotonus",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:28:44.395816+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNR were changed from Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653; Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2021-12-19T17:28:10.653015+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNR: Changed phenotypes: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653, Spastic para- or tetraparesis, Axial muscular hypotonia, Intellectual disability, Transient opisthotonus",
"entity_name": "TNR",
"entity_type": "gene"
},
{
"created": "2021-12-18T06:30:03.532441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: HHAT",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:27:20.083143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSB as ready",
"entity_name": "CTSB",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:27:20.073311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsb has been classified as Red List (Low Evidence).",
"entity_name": "CTSB",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:27:13.055348+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTSB were changed from to Keratolytic winter erythema, MIM# 148370",
"entity_name": "CTSB",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:26:55.416133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTSB were set to ",
"entity_name": "CTSB",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:21:11.724991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTSB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTSB",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:20:54.727367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTSB as Red List (low evidence)",
"entity_name": "CTSB",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:20:54.716226+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsb has been classified as Red List (Low Evidence).",
"entity_name": "CTSB",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:20:37.811904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CTSB.",
"entity_name": "CTSB",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:20:25.805889+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTSB: Rating: RED; Mode of pathogenicity: None; Publications: 28457472; Phenotypes: Keratolytic winter erythema, MIM# 148370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTSB",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:18:05.464993+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITSN1 were changed from Early childhood SSNS to Nephrotic syndrome",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:17:14.205278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITSN1 were changed from 29773874 to Nephrotic syndrome",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:16:54.985561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITSN1 were set to ",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:16:35.711788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITSN1: Changed publications: 29773874; Changed phenotypes: Nephrotic syndrome",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:15:11.687175+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSR1 as ready",
"entity_name": "MSR1",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:15:11.676846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msr1 has been classified as Red List (Low Evidence).",
"entity_name": "MSR1",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:15:03.322919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSR1 were changed from to Barrett esophagus/esophageal adenocarcinoma, MIM# 614266",
"entity_name": "MSR1",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:14:45.304500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MSR1 were set to ",
"entity_name": "MSR1",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:14:26.619776+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MSR1",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:14:09.401632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSR1 as Red List (low evidence)",
"entity_name": "MSR1",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:14:09.390750+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msr1 has been classified as Red List (Low Evidence).",
"entity_name": "MSR1",
"entity_type": "gene"
},
{
"created": "2021-12-17T18:13:51.919354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MSR1: Rating: RED; Mode of pathogenicity: None; Publications: 12958598, 21791690; Phenotypes: Barrett esophagus/esophageal adenocarcinoma, MIM# 614266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MSR1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:29:20.346808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPAMD8 as ready",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:29:20.336273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpamd8 has been classified as Green List (High Evidence).",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:29:09.426017+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis 8, MIM# 617319",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:28:51.755243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPAMD8 were set to ",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:28:33.234937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPAMD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:28:14.705979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, MIM# 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:26:13.776777+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPAMD8 as ready",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:26:13.767453+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpamd8 has been classified as Green List (High Evidence).",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:26:09.581407+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPAMD8 were changed from Anterior Segment Dysgenesis to Anterior segment dysgenesis 8, MIM# 617319",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:25:56.898544+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPAMD8 were set to ",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:23:28.179338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPAMD8 as Green List (high evidence)",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:23:28.168693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpamd8 has been classified as Green List (High Evidence).",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:23:16.126421+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, MIM# 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:20:07.710110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLQ as ready",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:20:07.699081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Red List (Low Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:20:03.896741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, MIM#603034",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:19:52.077640+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLQ were set to 9689136; 11865139",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:19:39.636675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COLQ as Red List (low evidence)",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:19:39.618963+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Red List (Low Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:19:28.052789+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, more than 10 families reported. However, cannot find reports of presentation with multiple pterygia specifically.; to: Well established gene-disease association, more than 10 families reported. However, contractures not reported, and variable age of onset/progression.",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:19:03.882993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COLQ: Changed rating: RED",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:16:51.530066+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP53 were set to 30250217; 32124521",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:16:25.961806+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 8 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness. \nSources: Literature; to: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness. \r\nSources: Literature",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:16:10.959228+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: USP53: Changed publications: 30250217, 32124521, 33075013",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:15:47.885370+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP53 were set to 30250217; 32124521",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:15:26.978771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Another 7 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). One individual had deafness.; to: Another 11 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years). Childhood-onset deafness reported in two families.",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:14:50.596042+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: USP53: Changed publications: 30250217, 32124521, 33075013",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:14:11.776928+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP53 as ready",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:14:11.766132+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp53 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:14:07.257896+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP53 as Amber List (moderate evidence)",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:14:07.245435+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp53 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:13:43.174177+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years).\r\n\r\nDeafness reported in two families, childhood onset. \nSources: Expert Review; to: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years).\r\n\r\nDeafness reported in two families, childhood onset. \r\nSources: Expert Review",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:13:32.118754+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP53 was added\ngene: USP53 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP53 were set to 30250217; 32124521; 33075013\nPhenotypes for gene: USP53 were set to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658\nReview for gene: USP53 was set to AMBER\nAdded comment: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years).\r\n\r\nDeafness reported in two families, childhood onset. \nSources: Expert Review",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:10:07.834320+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP53 were changed from Cholestasis; deafness to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:09:47.064950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP53 were changed from Cholestasis; deafness to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM#\t619658",
"entity_name": "USP53",
"entity_type": "gene"
}
]
}