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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=481",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=479",
"results": [
{
"created": "2024-03-15T16:00:59.613322+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTRHD1: Changed phenotypes: Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2024-03-15T16:00:41.452074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTRHD1 were changed from Parkinsonism; Intellectual disability to Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2024-03-15T16:00:17.093558+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTRHD1 were changed from early-onset parkinsonism; intellectual disability to Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2024-03-15T15:59:34.472055+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTRHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2024-03-14T17:16:05.545562+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMP1 as ready",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2024-03-14T17:16:05.532129+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmp1 has been classified as Green List (High Evidence).",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2024-03-14T17:15:59.900211+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DMP1 as Green List (high evidence)",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2024-03-14T17:15:59.891314+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmp1 has been classified as Green List (High Evidence).",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2024-03-14T17:15:30.173013+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMP1 was added\ngene: DMP1 was added to Osteopetrosis. Sources: Expert Review\nMode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMP1 were set to 17033625\nPhenotypes for gene: DMP1 were set to Hypophosphataemic rickets, MIM#600980\nReview for gene: DMP1 was set to GREEN\nAdded comment: Included due to phenotypic overlap: osteosclerotic changes on X-rays, severe in some individuals. \nSources: Expert Review",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2024-03-14T13:36:06.214139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1610",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: BBS4: Rating: RED; Mode of pathogenicity: None; Publications: 37588201; Phenotypes: autosomal dominant polycystic liver disease MONDO:0000447; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2024-03-14T13:31:38.484864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1610",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2024-03-14T10:24:20.784726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1610",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38412861; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), ZFHX3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2024-03-11T17:31:58.754898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFEMP1 were changed from Glaucoma 1, open angle, H, MIM# 611276; Doyne honeycomb degeneration of retina, MIM# 126600; EFEMP1-related connective tissue disorder to Glaucoma 1, open angle, H, MIM# 611276; Doyne honeycomb degeneration of retina, MIM# 126600; EFEMP1-related connective tissue disorder",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2024-03-11T17:31:50.772073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFEMP1 were changed from Doyne honeycomb degeneration of retina, MIM# 126600; EFEMP1-related connective tissue disorder to Glaucoma 1, open angle, H, MIM# 611276; Doyne honeycomb degeneration of retina, MIM# 126600; EFEMP1-related connective tissue disorder",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2024-03-11T17:31:29.496320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EFEMP1: Changed phenotypes: Doyne honeycomb degeneration of retina, MIM# 126600, EFEMP1-related connective tissue disorder, Glaucoma 1, open angle, H, MIM# 611276",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2024-03-11T17:31:07.233415+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFEMP1 were changed from Juvenile-onset open angle glaucoma, MONDO:0020367, EFEMP1-related to Glaucoma 1, open angle, H, MIM# 611276",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2024-03-11T17:30:29.128994+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glaucoma 1, open angle, H, MIM# 611276; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:38:39.694740+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIAPH1 as ready",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:38:39.683276+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:36:23.898483+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DIAPH1 were changed from to Seizures, cortical blindness, microcephaly syndrome, MIM# 616632",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:35:51.965388+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DIAPH1 were set to ",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:35:15.519882+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DIAPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:34:43.838855+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:32:55.805692+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR24 as ready",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:32:55.794056+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr24 has been classified as Green List (High Evidence).",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:32:43.098249+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, MIM# 602398",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:32:13.066155+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHCR24 were set to ",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:31:27.781301+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:30:48.926790+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Clinical features include multiple congenital anomalies, including contractures and brain anomalies; intellectual disability; and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.\r\n\r\nAt least 10 unrelated families reported, mouse model.; to: Clinical features include multiple congenital anomalies, including contractures and brain anomalies; intellectual disability; and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.\r\n\r\nAt least 10 unrelated families reported, mouse model. Seizures are a feature.",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:30:03.233297+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX3X as ready",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:30:03.222390+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx3x has been classified as Green List (High Evidence).",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:29:59.004009+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX3X were changed from to Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:29:21.558584+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX3X were set to ",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:28:25.485154+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDX3X was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:27:47.891961+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Syndromic X-linked mental retardation of the Snijders Blok type (MRXSSB), which occurs predominantly in females, is characterised by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioural problems. Affected girls have de novo heterozygous mutations consistent with X-linked dominant inheritance. No consistent dysmorphic facial phenotype and onset in infancy.\r\n\r\nMultiple unrelated families reported.; to: Syndromic X-linked mental retardation of the Snijders Blok type (MRXSSB), which occurs predominantly in females, is characterised by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioural problems. Affected girls have de novo heterozygous mutations consistent with X-linked dominant inheritance. No consistent dysmorphic facial phenotype and onset in infancy.\r\n\r\nMultiple unrelated families reported. Seizures are a feature.",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:26:53.107513+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCX as ready",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:26:53.091609+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcx has been classified as Green List (High Evidence).",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:26:49.569317+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCX were changed from to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:26:12.172625+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCX were set to ",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:25:22.011498+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:24:43.627975+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome. Multiple affected families reported.; to: DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome. Multiple affected families reported. Seizures are a feature of the condition.",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:24:12.113306+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: D2HGDH as ready",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:24:12.100760+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: d2hgdh has been classified as Green List (High Evidence).",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:24:08.448539+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: D2HGDH were changed from to D-2-hydroxyglutaric aciduria MIM#600721",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:23:38.471813+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: D2HGDH were set to ",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:23:00.859830+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: D2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:22:24.527593+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 3 families reported.; to: More than 3 families reported, early onset encephalopathy is a key feature.",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:21:35.531817+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSD as ready",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:21:35.519452+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsd has been classified as Green List (High Evidence).",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:21:30.059395+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; MONDO:0012414",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:20:51.313099+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTSD were set to ",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:20:14.380866+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTSD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:19:38.086083+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Neurodegenerative disorder though severe congenital forms also reported.; to: Neurodegenerative disorder though severe congenital forms also reported, seizures are a key feature.",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:14:01.809664+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ9 as ready",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:14:01.797786+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq9 has been classified as Green List (High Evidence).",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:13:58.127166+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:13:22.422848+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ9 were set to ",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:12:52.216879+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:12:13.345144+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:10:44.772262+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ4 as ready",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:10:44.754116+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq4 has been classified as Green List (High Evidence).",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:10:40.966580+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7, MIM# 616276",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:10:06.082794+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ4 were set to ",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:09:34.012387+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:08:24.547774+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ2 as ready",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:08:24.536303+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq2 has been classified as Green List (High Evidence).",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:08:21.126616+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:07:49.431182+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ2 were set to ",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2024-03-09T12:07:11.908028+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:24:38.843387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYCN were changed from Feingold syndrome 1 (MIM#164280); Neurodevelopmental disorder (MONDO:0700092), MYCN-related to Feingold syndrome 1 (MIM#164280); Megalencephaly-polydactyly syndrome, MIM# 620748",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:24:18.269772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYCN: Changed phenotypes: Feingold syndrome 1, MIM# 164280, Megalencephaly-polydactyly syndrome, MIM# 620748",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:23:54.203652+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYCN as ready",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:23:54.194579+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycn has been classified as Green List (High Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:23:51.566215+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYCN were changed from Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 to Megalencephaly-polydactyly syndrome, MIM# 620748; Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:23:36.969755+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-polydactyly syndrome, MIM# 620748; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:23:02.894163+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYCN were changed from Neurodevelopmental disorder (MONDO:0700092), MYCN-related to Megalencephaly-polydactyly syndrome, MIM# 620748",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:22:33.193946+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-polydactyly syndrome, MIM# 620748; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:22:00.535638+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYCN were changed from Neurodevelopmental disorder (MONDO:0700092), MYCN-related to Megalencephaly-polydactyly syndrome, MIM# 620748",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:21:24.177393+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-polydactyly syndrome, MIM# 620748; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:20:21.537932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A10 were changed from Neurodevelopmental disorderMONDO:0700092, SLC4A10-related to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:19:49.891660+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:19:12.480137+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A10 were changed from Neurodevelopmental disorderMONDO:0700092, SLC4A10-related to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:18:39.998508+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:18:20.271453+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A10 were changed from Neurodevelopmental disorderMONDO:0700092, SLC4A10-related to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:17:49.291604+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:17:11.825180+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A10 were changed from Neurodevelopmental disorderMONDO:0700092, SLC4A10-related to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:16:39.714638+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:16:18.900362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A10 were changed from Neurodevelopmental disorderMONDO:0700092, SLC4A10-related to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:15:37.348316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:15:17.102118+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A10 were changed from Neurodevelopmental disorderMONDO:0700092, SLC4A10-related to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:14:39.147389+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:05:20.943707+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RREB1 were changed from Noonan syndrome-like disorder to Rasopathy, MONDO:0021060, RREB1-related",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:03:11.021460+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RGS6 were changed from Cataract,MONDO:0005129; intellectual disability, MONDO:0001071; microcephaly, MONDO:0001149 to Neurodevelopmental disorder, MONDO:0700092, RGS6-related",
"entity_name": "RGS6",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:02:33.414444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RGS6 were changed from Cataract,MONDO:0005129; intellectual disability, MONDO:0001071; microcephaly, MONDO:0001149 to Neurodevelopmental disorder, MONDO:0700092, RGS6-related",
"entity_name": "RGS6",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:01:14.471372+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RGS6 were changed from Neurodevelopmental disorder, MONDO:0700092, RGS6-related to Neurodevelopmental disorder, MONDO:0700092, RGS6-related",
"entity_name": "RGS6",
"entity_type": "gene"
},
{
"created": "2024-03-08T15:00:48.082573+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RGS6 were changed from Cataract,MONDO:0005129; intellectual disability, MONDO:0001071; microcephaly, MONDO:0001149 to Neurodevelopmental disorder, MONDO:0700092, RGS6-related",
"entity_name": "RGS6",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:57:24.388216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZSCAN10 as ready",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:57:24.379936+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zscan10 has been classified as Green List (High Evidence).",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:57:16.702705+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZSCAN10 as Green List (high evidence)",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:57:16.690414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zscan10 has been classified as Green List (High Evidence).",
"entity_name": "ZSCAN10",
"entity_type": "gene"
}
]
}