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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1486",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1484",
"results": [
{
"created": "2020-12-07T14:36:21.908613+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37432-Gain were changed from Chromosome 17q12 duplication syndrome\t614526 to Chromosome 17q12 duplication syndrome\t614526; intellectual disability; seizures; congenital anomalies",
"entity_name": "ISCA-37432-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:35:19.891463+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37432-Gain as Green List (high evidence)",
"entity_name": "ISCA-37432-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:35:19.880680+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37432-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37432-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T11:20:30.874447+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTC1 as ready",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-12-07T11:20:30.858876+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actc1 has been classified as Red List (Low Evidence).",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-12-07T11:20:20.633605+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTC1 as Red List (low evidence)",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-12-07T11:20:20.624937+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actc1 has been classified as Red List (Low Evidence).",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-12-07T11:19:43.120037+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABL1 as ready",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-12-07T11:19:43.112188+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Red List (Low Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-12-07T11:19:35.547198+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABL1 as Red List (low evidence)",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-12-07T11:19:35.539150+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Red List (Low Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-12-07T08:42:52.931749+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.119",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37434-Loss was added\nRegion: ISCA-37434-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432\nPhenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872\nReview for Region: ISCA-37434-Loss was set to GREEN\nAdded comment: Established CNV\r\n\r\nThe majority of deletions occur on the maternal chromosome.\r\n\r\nFeatures include: Microbrachycephaly (65%), epicanthus (50%), large, late-closing anterior fontanel (77%), and posteriorly rotated, low-set, abnormal ears (40%), skeletal anomalies (41%), abnormal genitalia (25%), renal abnormalities (22%), hypotonia (95%), seizures (44%), sensorineural deafness (28%) \nSources: Expert list",
"entity_name": "ISCA-37434-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T08:29:16.782610+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.119",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37433-Gain was added\nRegion: ISCA-37433-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37433-Gain were set to PMID: 18707033\nPhenotypes for Region: ISCA-37433-Gain were set to Chromosome 22q11.2 microduplication syndrome\tMIM#608363\nReview for Region: ISCA-37433-Gain was set to GREEN\nAdded comment: Established CNV\r\n\r\nExtremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects. \r\nPatients have been reported as both de novo and having inherited the dup from a healthy parent \nSources: Expert list",
"entity_name": "ISCA-37433-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T08:25:17.535533+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.119",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37432-Loss was added\nRegion: ISCA-37432-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Loss were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome\tMIM#614527\nReview for Region: ISCA-37432-Loss was set to GREEN\nAdded comment: Established CNV\r\n\r\nIncludes HNF1B resulting in renal cysts and diabetes syndrome - cognitive impairment impairment is rare \nSources: Expert list",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T08:22:39.481532+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.119",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37432-Gain was added\nRegion: ISCA-37432-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Gain were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome\t614526\nReview for Region: ISCA-37432-Gain was set to GREEN\nAdded comment: Established CNV\r\n\r\nCognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain.\r\n\r\nOMIM notes healthy carriers with minor behavioural issues have been reported \nSources: Expert list",
"entity_name": "ISCA-37432-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T08:00:10.876318+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAJB11: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:59:57.072931+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease (618061) to Polycystic kidney disease 6 with or without polycystic liver disease (618061); Ivermark II syndrome",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:59:45.499926+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJB11 were set to 29706351",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:59:39.178559+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:59:26.598586+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:59:22.976542+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAJB11: Added comment: Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.\r\n\r\nSeven families described with phenotypes overlapping ADTKD and ADPKD and mono-allelic variants in this gene.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease (618061), Ivermark II syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:58:15.288215+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061; Ivermark II syndrome.",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:57:48.666798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJB11 were set to 29706351; 29777155",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:57:26.826444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:57:07.355287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Seven unrelated. families described with phenotypes overlapping ADTKD and ADPKD, five different variants, one of these, p.Arg206* recurrent in three families.; to: Seven unrelated. families described with phenotypes overlapping ADTKD and ADPKD, five different mono-allelic variants, one of these, p.Arg206* recurrent in three families.",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:56:49.906012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAJB11: Added comment: Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:55:55.041584+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061; Ivermark II syndrome.",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:55:17.679391+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJB11 were set to 29706351; 29777155",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:54:45.695294+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:54:08.304057+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported with severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.; to: Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:53:54.358592+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Seven families described with phenotypes overlapping ADTKD and ADPKD. \nSources: Expert list; to: Seven families described with phenotypes overlapping ADTKD and ADPKD and mono-allelic variants in this gene. \r\nSources: Expert list",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-07T07:53:41.522119+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAJB11: Added comment: Single family reported with severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-12-06T17:22:08.677451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYLPF were changed from Distal arthrogryoposis to Distal arthrogryposis type 1C (DA1C), MIM#619110",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-12-06T17:21:49.206565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYLPF: Changed rating: AMBER; Changed phenotypes: Distal arthrogryposis type 1C (DA1C), MIM#619110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-12-06T17:21:28.463929+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYLPF were changed from Distal arthrogryoposis to Distal arthrogryposis type 1C (DA1C), MIM#619110",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-12-06T17:20:52.512656+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYLPF: Changed rating: AMBER; Changed phenotypes: Distal arthrogryposis type 1C (DA1C), MIM#619110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:55:46.587950+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPGRIP1L as Amber List (moderate evidence)",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:55:46.578241+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgrip1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:55:18.432527+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Coloboma is part of the phenotype. \nSources: Expert list; to: Coloboma is part of the phenotype, however, only a single individual with the COACH phenotype has been reported to date. Well established ciliopathy gene.\r\nSources: Expert list",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:54:45.837616+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RPGRIP1L: Changed rating: AMBER; Changed phenotypes: COACH syndrome 3, MIM# 619113",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:52:27.017694+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284 to COACH syndrome 2, MIM# 619111; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:51:55.285458+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:51:22.048749+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from COACH syndrome, MIM#216360 to COACH syndrome 2, MIM# 619111",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:50:45.829571+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CC2D2A: Changed phenotypes: COACH syndrome 2, MIM# 619111",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:49:00.138798+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.49",
"user_name": "Edwin Kirk",
"item_type": "entity",
"text": "reviewed gene: YIF1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:48:17.910071+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HHAT as ready",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:48:17.899590+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Amber List (Moderate Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:47:48.526118+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HHAT as Amber List (moderate evidence)",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:47:48.519009+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Amber List (Moderate Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:47:13.741306+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HHAT was added\ngene: HHAT was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list\nMode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HHAT were set to 24784881; 30912300\nPhenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092\nReview for gene: HHAT was set to AMBER\nAdded comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia. \nSources: Expert list",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:46:45.022222+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HHAT as Amber List (moderate evidence)",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:46:44.994277+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Amber List (Moderate Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:46:06.133251+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.49",
"user_name": "Edwin Kirk",
"item_type": "entity",
"text": "reviewed gene: TMEM94: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:46:03.566671+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HHAT was added\ngene: HHAT was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HHAT were set to 24784881; 30912300\nPhenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092\nReview for gene: HHAT was set to AMBER\nAdded comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia. \nSources: Expert list",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:44:35.156403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HHAT as ready",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:44:35.148811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Amber List (Moderate Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:44:25.062416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HHAT as Amber List (moderate evidence)",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:44:25.050297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Amber List (Moderate Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:44:07.882446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HHAT was added\ngene: HHAT was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HHAT were set to 24784881; 30912300\nPhenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092\nReview for gene: HHAT was set to AMBER\nAdded comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia. \nSources: Expert list",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:43:49.095240+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HHAT as ready",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:43:49.087123+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Amber List (Moderate Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:43:43.753288+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HHAT as Amber List (moderate evidence)",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:43:43.743070+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Amber List (Moderate Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:42:37.394169+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HHAT was added\ngene: HHAT was added to Skeletal dysplasia. Sources: Expert list\nMode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HHAT were set to 24784881; 30912300\nPhenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome\t600092\nReview for gene: HHAT was set to AMBER\nAdded comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia. \nSources: Expert list",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:42:07.665640+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.49",
"user_name": "Edwin Kirk",
"item_type": "entity",
"text": "reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:37:27.065859+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.49",
"user_name": "Edwin Kirk",
"item_type": "entity",
"text": "reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:35:19.161687+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:34:46.986728+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:34:33.899959+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KAT5: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103, Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:34:25.896803+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.49",
"user_name": "Edwin Kirk",
"item_type": "entity",
"text": "reviewed gene: FITM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:34:16.779963+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:33:55.614333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:33:31.321069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:33:22.346792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KAT5: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:32:59.979783+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:32:27.794521+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KAT5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:31:47.001456+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:31:14.510116+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.49",
"user_name": "Edwin Kirk",
"item_type": "entity",
"text": "changed review comment from: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view.; to: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view.\r\n\r\nNote - I don't think I selected a rating when I entered the above, not certain if this matters. ",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:31:01.259099+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KAT5: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:30:05.318026+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.49",
"user_name": "Edwin Kirk",
"item_type": "entity",
"text": "reviewed gene: DYNC1I2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2020-12-06T16:27:22.325364+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.49",
"user_name": "Edwin Kirk",
"item_type": "entity",
"text": "commented on gene: ADPRHL2",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:29:03.000487+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: H3F3B as ready",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:29:02.991846+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3b has been classified as Green List (High Evidence).",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:28:27.264265+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3B as Green List (high evidence)",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:28:27.253732+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3b has been classified as Green List (High Evidence).",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:27:55.424072+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: H3F3B was added\ngene: H3F3B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: H3F3B were set to 33268356\nPhenotypes for gene: H3F3B were set to Intellectual disability; regression; seizures\nReview for gene: H3F3B was set to GREEN\nAdded comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%. \nSources: Literature",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:27:21.965299+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:26:56.113856+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: H3F3B were set to ",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:26:25.245125+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:25:54.312792+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3B as Green List (high evidence)",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:25:54.302535+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3b has been classified as Green List (High Evidence).",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:24:29.258565+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: H3F3B: Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:24:14.929388+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:23:43.712062+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: H3F3B were set to ",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:23:15.588851+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:22:47.846433+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3B as Green List (high evidence)",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:22:47.833804+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3b has been classified as Green List (High Evidence).",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:22:16.009883+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: H3F3B: Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:21:16.005009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-12-05T11:20:57.941175+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: H3F3B were set to ",
"entity_name": "H3F3B",
"entity_type": "gene"
}
]
}