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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1616",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1614",
"results": [
{
"created": "2020-09-02T16:52:33.755499+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.321",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fancg has been classified as Green List (High Evidence).",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:52:00.659207+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCF as Green List (high evidence)",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:52:00.647231+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancf has been classified as Green List (High Evidence).",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:51:57.840798+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.319",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ERCC4 was added\ngene: ERCC4 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q\t(MIM#615272); Cockayne syndrome\t(MIM#278760)\nPenetrance for gene: ERCC4 were set to unknown\nReview for gene: ERCC4 was set to GREEN\nAdded comment: Microcephaly is a well established feature in Cockayne syndrome \nSources: Literature",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:51:30.800879+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.319",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: FANCE as ready",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:51:30.786414+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.319",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fance has been classified as Green List (High Evidence).",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:51:25.354243+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.319",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: FANCE as Green List (high evidence)",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:51:25.345196+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.319",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fance has been classified as Green List (High Evidence).",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:51:11.338745+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCI as ready",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:51:11.328945+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fanci has been classified as Green List (High Evidence).",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:51:03.797763+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCI as Green List (high evidence)",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:51:03.787238+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fanci has been classified as Green List (High Evidence).",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:50:54.016741+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.317",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: FANCF was added\ngene: FANCF was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCF were set to 20301575\nPhenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, MIM#\t603467\nReview for gene: FANCF was set to GREEN\nAdded comment: Well established gene disease association\r\nSources: https://www.ncbi.nlm.nih.gov/books/NBK1401/ \nSources: Literature",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:50:20.716544+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.317",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: FANCG was added\ngene: FANCG was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCG were set to 20301575\nPhenotypes for gene: FANCG were set to Fanconi anemia, complementation group G MIM#614082\nReview for gene: FANCG was set to GREEN\ngene: FANCG was marked as current diagnostic\nAdded comment: Well-established gene-disease association, microcephaly is a feature. \nSources: Literature",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:49:59.344238+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCL as ready",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:49:59.334820+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancl has been classified as Green List (High Evidence).",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:49:54.815434+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCL as Green List (high evidence)",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:49:54.806485+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancl has been classified as Green List (High Evidence).",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:49:27.026729+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCL was added\ngene: FANCL was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCL were set to 20301575\nPhenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, MIM#\t614083\nReview for gene: FANCL was set to GREEN\nAdded comment: Well established gene-disease association, microcephaly is a key feature. \nSources: Expert list",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:49:23.608759+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.316",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: FANCC as ready",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:49:23.597914+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.316",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fancc has been classified as Green List (High Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:49:10.215950+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.316",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: FANCC as Green List (high evidence)",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:49:10.205399+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.316",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fancc has been classified as Green List (High Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:48:34.892671+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.315",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: FANCI was added\ngene: FANCI was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCI were set to 20301575\nPhenotypes for gene: FANCI were set to Fanconi anemia, complementation group I\t(MIM#609053)\nPenetrance for gene: FANCI were set to unknown\nReview for gene: FANCI was set to GREEN\nAdded comment: 75% of Fanconi Anemia (FA) patients have microcephaly and approx 1% cases is caused by FANCI \nSources: Literature",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:48:13.970154+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.315",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: FANCA as ready",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:48:13.957915+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.315",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fanca has been classified as Green List (High Evidence).",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:48:06.701912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4125",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:20301575; Phenotypes: Fanconi anemia 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:48:01.505497+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.315",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: FANCA as Green List (high evidence)",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:48:01.495962+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.315",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fanca has been classified as Green List (High Evidence).",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:47:54.457885+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.314",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: FANCE was added\ngene: FANCE was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCE were set to PMID: 20301575\nPhenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, MIM#600901\nPenetrance for gene: FANCE were set to Complete\nReview for gene: FANCE was set to GREEN\nAdded comment: Well established gene-disease association, with microcephaly a reported feature. \nSources: Literature",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:47:33.240378+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.314",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: FANCA was added\ngene: FANCA was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCA were set to 20301575\nPhenotypes for gene: FANCA were set to Fanconi anemia, complementation group A\t(MIM#227650)\nReview for gene: FANCA was set to GREEN\ngene: FANCA was marked as current diagnostic\nAdded comment: Well established gene disease association \nSources: Expert Review",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:47:22.729955+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCB as ready",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:47:22.721217+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancb has been classified as Green List (High Evidence).",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:47:14.325049+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCB as Green List (high evidence)",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:47:14.284688+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancb has been classified as Green List (High Evidence).",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:46:45.885748+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCB was added\ngene: FANCB was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FANCB were set to 20301575\nPhenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, MIM#\t300514\nReview for gene: FANCB was set to GREEN\nAdded comment: Well established gene-disease association, microcephaly is a key feature. \nSources: Expert list",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:46:41.793240+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.312",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: FANCC was added\ngene: FANCC was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCC were set to 20301575\nPhenotypes for gene: FANCC were set to Fanconi anemia, complementation group C\t(MIM#227645)\nPenetrance for gene: FANCC were set to unknown\nReview for gene: FANCC was set to GREEN\nAdded comment: 75% of Fanconi Anemia (FA) patients have microcephaly and approx 14% cases is caused by FANCC \nSources: Literature",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:42:23.637467+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.46",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CHD4 as ready",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:42:23.628625+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.46",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Green List (High Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:42:13.894644+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.46",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CHD4 as Green List (high evidence)",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:42:13.884379+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.46",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Green List (High Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:41:20.243187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIAPH1 as ready",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:41:20.232888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4125",
"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": "2020-09-02T16:41:10.161571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DIAPH1 were changed from to Deafness; thrombocytopenia 124900; Seizures; cortical blindness; microcephaly 616632",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:41:00.987926+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.45",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CHD4 was added\ngene: CHD4 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CHD4 were set to 31388190; 27616479\nPhenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome (MIM#617159)\nPenetrance for gene: CHD4 were set to unknown\nReview for gene: CHD4 was set to GREEN\nAdded comment: PMID: 31388190\r\nOut of 32 probands, 5 had OFC of > 3 SD\r\n\r\nPMID: 27616479\r\nOut of 5 patients, 3 had OFC of >98th percentiles and 1x 90th\r\n\r\n* all de novo variants \nSources: Literature",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:40:03.738503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DIAPH1 were set to ",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:39:34.991077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4123",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: UFC1 as ready",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:39:34.981933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4123",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ufc1 has been classified as Green List (High Evidence).",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:39:34.758432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DIAPH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:39:20.931884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4122",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: UFC1 as Green List (high evidence)",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:39:20.918150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4122",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ufc1 has been classified as Green List (High Evidence).",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:38:37.711928+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.312",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: UFC1 as ready",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:38:37.700846+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.312",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ufc1 has been classified as Green List (High Evidence).",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:38:32.426632+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.312",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: UFC1 were set to 29868776",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:38:20.391875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4121",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: UFC1 was added\ngene: UFC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UFC1 were set to 29868776; 30552426\nPhenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)\nReview for gene: UFC1 was set to GREEN\ngene: UFC1 was marked as current diagnostic\nAdded comment: PMID 29868776: 8 affected individuals from 4 families reported. 7 were described to be postnatally microcephalic (at or below 3rd percentile). One was -5.1SD and one was -3.6SD. SD values for the others weren't provided.\r\n\r\nThe following head circumference measurements were provided for 6 of the affecteds:\r\n\r\n51cm at 16yo; 50cm at 19yo; 42.5cm at 12mo, 45cm at 28mo, 45.2cm at 7yo; 45cm at 4yo.\r\n\r\n3 of the families were consanguineous Saudi families with the same homozygous missense variant.\r\n\r\nIn vitro functional expression studies showed that both mutations caused impaired thioester binding with UFM1. Patient cells also showed decreased UFC1 intermediate formation with UFM1. The decrease in function was consistent with a hypomorphic allele, and the authors suggested that complete loss of function would be embryonic lethal.\r\n\r\nPMID 30552426: 1 more individual with epileptic encephalopathy reported with a different homozygous missense variant in UFC1. The patient had microcephaly <3rd percentile. \nSources: Literature",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:38:03.389622+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.311",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: UFC1 as Green List (high evidence)",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:38:03.380757+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.311",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ufc1 has been classified as Green List (High Evidence).",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:37:01.135896+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.310",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CHD4 as ready",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:37:01.126168+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.310",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:36:57.761692+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.310",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome (MIM#617159)",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:36:38.701894+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.309",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: UFC1: Changed rating: GREEN",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:36:33.069685+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP4 as ready",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:36:33.057502+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp4 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:36:31.663609+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.309",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: PMID 29868776: 8 affected individuals from 4 families reported. 7 were described to be postnatally microcephalic (at or below 3rd percentile). One was -5.1SD and one was -3.6SD. SD values for the others weren't provided.\r\n\r\nThe following head circumference measurements were provided for 6 of the affecteds:\r\n\r\n51cm at 16yo; 50cm at 19yo; 42.5cm at 12mo, 45cm at 28mo, 45.2cm at 7yo; 45cm at 4yo.\r\n\r\n3 of the families were consanguineous Saudi families with the same homozygous missense variant. \nSources: Literature; to: PMID 29868776: 8 affected individuals from 4 families reported. 7 were described to be postnatally microcephalic (at or below 3rd percentile). One was -5.1SD and one was -3.6SD. SD values for the others weren't provided.\r\n\r\nThe following head circumference measurements were provided for 6 of the affecteds:\r\n\r\n51cm at 16yo; 50cm at 19yo; 42.5cm at 12mo, 45cm at 28mo, 45.2cm at 7yo; 45cm at 4yo.\r\n\r\n3 of the families were consanguineous Saudi families with the same homozygous missense variant. \r\n\r\nIn vitro functional expression studies showed that both mutations caused impaired thioester binding with UFM1. Patient cells also showed decreased UFC1 intermediate formation with UFM1. The decrease in function was consistent with a hypomorphic allele, and the authors suggested that complete loss of function would be embryonic lethal.\r\n\r\nPMID 30552426: 1 more individual with epileptic encephalopathy reported with a different homozygous missense variant in UFC1. The patient had microcephaly <3rd percentile.\r\n\r\nSources: Literature",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:36:26.171917+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBGCP4 as Green List (high evidence)",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:36:26.159705+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp4 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:36:08.568687+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.309",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: CHD4 were set to ",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:35:23.257759+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.308",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:35:21.463063+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA5 as ready",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:35:21.454050+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba5 has been classified as Green List (High Evidence).",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:35:04.692682+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBA5 as Green List (high evidence)",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:35:04.681517+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba5 has been classified as Green List (High Evidence).",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:34:28.068859+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.307",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CHD4 as Amber List (moderate evidence)",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:34:28.064007+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.307",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Unclear what would differentiate Macro- from micro-cephaly in this gene, or if micro-cephaly is actually a feature of the condition",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:34:28.020294+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.307",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:33:56.308010+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM1L as ready",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:33:56.303994+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Borderline Amber/Green, but overall a small proportion of individuals have microcephaly.",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:33:56.272979+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:32:12.279354+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:32:10.598163+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.305",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: UFC1: Changed publications: 29868776, 30552426",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:31:44.267144+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNM1L as Amber List (moderate evidence)",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:31:44.258795+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:31:30.663040+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNM1L were set to ",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:30:48.053298+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:29:23.267314+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CENPF as ready",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:29:23.259032+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpf has been classified as Green List (High Evidence).",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:29:10.800293+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIT as ready",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:29:10.789473+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cit has been classified as Green List (High Evidence).",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:29:05.149557+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIT as Green List (high evidence)",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:29:05.140543+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cit has been classified as Green List (High Evidence).",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:27:45.180487+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE3A as ready",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:27:45.166891+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube3a has been classified as Green List (High Evidence).",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:27:42.907772+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3A were changed from to Angelman syndrome MIM#105830",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:27:15.817677+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:25:48.642410+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHAMP1 as ready",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:25:48.631303+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: champ1 has been classified as Green List (High Evidence).",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:25:39.219794+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHAMP1 were set to ",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:25:07.995709+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHAMP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:24:29.211080+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHAMP1 were changed from to Mental retardation, autosomal dominant 40 (MIM#616579)",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:22:55.723970+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKL5 as ready",
"entity_name": "CDKL5",
"entity_type": "gene"
}
]
}