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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=372",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=370",
"results": [
{
"created": "2024-10-07T19:10:57.192050+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ipo8 has been classified as Green List (High Evidence).",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2024-10-07T19:10:19.412866+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IPO8 was added\ngene: IPO8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IPO8 were set to 34010604; 33875846; 34010605\nPhenotypes for gene: IPO8 were set to Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472; Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities\nReview for gene: IPO8 was set to GREEN\nAdded comment: There are 35 unrelated cases with a IPO8 variant, 4/35 with mild ID, 1/35 with severe ID and 7 global developmental delay. There is a further case with severe ID, but the patient also has a 1.779Mb deletion in 19q13.4, which could be responsible for the ID (PMID: 34010605). \nSources: Literature",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:59:25.335340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WFDC2 as ready",
"entity_name": "WFDC2",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:59:25.322512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wfdc2 has been classified as Green List (High Evidence).",
"entity_name": "WFDC2",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:59:05.845316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WFDC2 as Green List (high evidence)",
"entity_name": "WFDC2",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:59:05.831732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wfdc2 has been classified as Green List (High Evidence).",
"entity_name": "WFDC2",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:58:45.179013+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WFDC2 was added\ngene: WFDC2 was added to Mendeliome. Sources: Literature\nfounder tags were added to gene: WFDC2.\nMode of inheritance for gene: WFDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WFDC2 were set to 38626355\nPhenotypes for gene: WFDC2 were set to bronchiectasis, MONDO:0004822, WFDC2-related\nReview for gene: WFDC2 was set to GREEN\nAdded comment: 11 individuals from 10 families reported with bi-allelic variants in this gene and bronchiectasis and nasal polyps. p.Cys49Arg is recurrent and may be a founder variant. \nSources: Literature",
"entity_name": "WFDC2",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:58:27.619295+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WFDC2 as ready",
"entity_name": "WFDC2",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:58:27.607270+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wfdc2 has been classified as Green List (High Evidence).",
"entity_name": "WFDC2",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:58:04.020336+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: WFDC2.",
"entity_name": "WFDC2",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:57:13.100834+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TP63 as ready",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:57:13.089234+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp63 has been classified as Green List (High Evidence).",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:57:09.754614+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP63 were changed from lymphopaenia to Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; lymphopaenia",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:56:42.784879+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WFDC2 as Green List (high evidence)",
"entity_name": "WFDC2",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:56:42.766016+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wfdc2 has been classified as Green List (High Evidence).",
"entity_name": "WFDC2",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:55:43.366605+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WFDC2 was added\ngene: WFDC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: WFDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WFDC2 were set to 38626355\nPhenotypes for gene: WFDC2 were set to bronchiectasis, MONDO:0004822, WFDC2-related\nReview for gene: WFDC2 was set to GREEN\nAdded comment: 11 individuals from 10 families reported with bi-allelic variants in this gene and bronchiectasis and nasal polyps. p.Cys49Arg is recurrent and may be a founder variant. \nSources: Literature",
"entity_name": "WFDC2",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:50:51.193676+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKACB were set to 33058759",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:50:04.043109+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKACB as Green List (high evidence)",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:50:04.024763+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkacb has been classified as Green List (High Evidence).",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:49:22.470174+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRKACB: Added comment: Additional individual reported with ID and de novo missense variant.; Changed rating: GREEN; Changed publications: 39095811",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:48:20.687896+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TP63 as Green List (high evidence)",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:48:20.669277+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp63 has been classified as Green List (High Evidence).",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:47:40.249571+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: 39364398; Phenotypes: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:45:17.350802+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:45:17.337335+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:45:00.610116+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAN2B1 as Green List (high evidence)",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:45:00.591405+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:44:50.684907+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAN2B1 was added\ngene: MAN2B1 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2B1 were set to 29859105\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM#\t248500\nReview for gene: MAN2B1 was set to GREEN\nAdded comment: Retinal dystrophy can be a feature of the systemic alpha-mannosidosis phenotype, and can rarely be the presenting feature in apparent non-syndromic retinal dystrophy \nSources: Expert list",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:28:51.771827+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.390",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: CLDN10: Rating: AMBER; Mode of pathogenicity: None; Publications: 37984702, 31671507, 28674042; Phenotypes: HELIX syndrome (MIM#617671); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:18:12.222607+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, MIM#609033 to neurodevelopmental disorder MONDO:0700092, FLVCR1-related; Ataxia, posterior column, with retinitis pigmentosa, MIM#609033",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:17:26.651536+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLVCR1 were set to ",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:17:12.782337+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLVCR1 as Green List (high evidence)",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:17:12.755447+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flvcr1 has been classified as Green List (High Evidence).",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2024-10-07T17:16:58.253528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FLVCR1: Added comment: PMID 39306721: A new study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.\r\n\r\nIncluded here as brain, limb and digital malformations can present antenatally.; Changed rating: GREEN; Changed publications: 39306721; Changed phenotypes: neurodevelopmental disorder MONDO:0700092, FLVCR1-related, Ataxia, posterior column, with retinitis pigmentosa, MIM#609033",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2024-10-07T16:51:19.987367+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.390",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22229731, 10909851; Phenotypes: Properdin deficiency, X-linked (MIM#312060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2024-10-07T16:32:31.321730+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF216 as ready",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2024-10-07T16:32:31.307724+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Green List (High Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2024-10-07T16:32:26.744140+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF216 as Green List (high evidence)",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2024-10-07T16:32:26.729725+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Green List (High Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2024-10-07T16:31:47.371193+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNF216 was added\ngene: RNF216 was added to Differences of Sex Development. Sources: Expert list\nMode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF216 were set to 25841028; 23656588\nPhenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, MIM#\t212840\nReview for gene: RNF216 was set to GREEN\nAdded comment: Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism, which can present with amenorrhoea in females. \nSources: Expert list",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2024-10-07T16:31:42.728129+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.390",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: 33316915; Phenotypes: Usher syndrome, type 1D (MIM#601067), Deafness, autosomal recessive 12 (MIM#601386); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:28:23.008454+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB18 as ready",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:28:22.990096+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab18 has been classified as Green List (High Evidence).",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:28:07.537302+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:27:28.388048+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB18 were set to ",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:27:17.184431+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAF1 as ready",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:27:17.166258+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Green List (High Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:26:57.333700+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAF1 were changed from Noonan syndrome 5, MIM# 611553 to Noonan syndrome 5, MIM# 611553",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:26:22.539626+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAF1 were changed from to Noonan syndrome 5, MIM# 611553",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:25:38.933140+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAF1 were set to ",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:24:36.285840+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RAF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:23:52.659074+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:23:06.370482+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:22:23.660169+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln; to: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:22:02.948951+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:20:41.498324+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB18 as ready",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:20:41.482485+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab18 has been classified as Green List (High Evidence).",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:20:34.439402+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:19:50.837320+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB18 were set to ",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:19:03.806228+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:18:24.048364+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: RAB18.",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:18:12.050547+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:16:50.086942+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYCR1 as ready",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:16:50.071219+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pycr1 has been classified as Green List (High Evidence).",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:16:34.022136+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYCR1 were changed from to Cutis laxa, autosomal recessive, type IIB, MIM# 612940; Cutis laxa, autosomal recessive, type IIIB, MIM# 614438",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:14:38.906542+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYCR1 were set to ",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:13:52.382280+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PYCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:13:11.412728+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19648921, 4076251, 22052856, 19576563, 19648921, 9648921, 22052856, 28294978, 27756598; Phenotypes: Cutis laxa, autosomal recessive, type IIB, MIM# 612940, Cutis laxa, autosomal recessive, type IIIB, MIM# 614438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:10:52.433402+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS1 as ready",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:10:52.418097+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus1 has been classified as Green List (High Evidence).",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:10:48.796059+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUS1 were set to ",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:10:39.665214+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:10:06.488997+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS1 were changed from Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:10:05.189624+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS1 as ready",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:10:05.175258+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus1 has been classified as Green List (High Evidence).",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:09:27.083157+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:07:56.911275+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS1 as ready",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:07:56.896796+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus1 has been classified as Green List (High Evidence).",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:07:43.066667+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUS1 were set to ",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:07:29.153527+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T10:06:41.313298+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUS1 were set to ",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:58:11.361020+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:57:47.262189+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:57:43.637106+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:56:17.963913+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PUS1: Changed phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:56:04.490580+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PUS1: Changed phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:55:56.947889+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:54:41.031932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTS as ready",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:54:41.021704+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pts has been classified as Green List (High Evidence).",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:54:35.418420+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTS were changed from Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 to Hyperphenylalaninaemia, BH4-deficient, A, MIM# 261640",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:54:04.147847+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTS were changed from to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:53:16.578042+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:52:35.275358+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:50:57.417748+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN11 as ready",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:50:57.402602+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Green List (High Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:50:47.942679+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN11 were changed from to Noonan syndrome 1, MIM#163950 AD; LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:47:27.030957+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPN11 were set to ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:46:38.575425+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PTPN11 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:45:54.789841+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:44:57.310404+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTF1A as ready",
"entity_name": "PTF1A",
"entity_type": "gene"
}
]
}