HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1314",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1312",
"results": [
{
"created": "2021-06-03T06:30:15.411262+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F7 were changed from to Factor VII deficiency, MIM# 227500; MONDO:0009211",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:29:52.434915+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F7 were set to ",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:29:24.722273+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:28:54.201500+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12181036; Phenotypes: Factor VII deficiency, MIM# 227500, MONDO:0009211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:26:49.591604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F5 as ready",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:26:49.580745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f5 has been classified as Green List (High Evidence).",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:26:40.506586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F5 were changed from to Factor V deficiency, MIM# 227400; MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055; MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:26:20.632388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:26:01.479274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency, MIM# 227400, MONDO:0009210, Thrombophilia due to activated protein C resistance, MIM# 188055, MONDO:0008560, {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:25:18.552752+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F5 as ready",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:25:18.541906+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f5 has been classified as Green List (High Evidence).",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:25:15.599149+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F5 were changed from to Factor V deficiency, MIM# 227400; MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055; MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:24:51.141466+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:23:53.356317+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency, MIM# 227400, MONDO:0009210, Thrombophilia due to activated protein C resistance, MIM# 188055, MONDO:0008560, {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:58:40.214324+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F13A1 as ready",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:58:40.203785+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f13a1 has been classified as Green List (High Evidence).",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:58:37.722098+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F13A1 were changed from to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:58:10.011411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F13A1 as ready",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:58:09.998926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f13a1 has been classified as Green List (High Evidence).",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:58:02.739376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F13A1 were changed from to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:57:44.664812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F13A1 were set to ",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:57:26.522986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:57:08.172466+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1644910, 7727776, 10027709, 33802692, 32060721; Phenotypes: Factor XIIIA deficiency, MIM# 613225, MONDO:0013187; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:57:04.441281+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F13A1 were set to ",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:56:31.864072+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:56:02.539931+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1644910, 7727776, 10027709, 33802692, 32060721; Phenotypes: Factor XIIIA deficiency, MIM# 613225, MONDO:0013187; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:51:30.640718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F10 as ready",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:51:30.629211+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f10 has been classified as Green List (High Evidence).",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:51:22.968142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F10 were changed from to Factor X deficiency, MIM# 227600; MONDO:0009212",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:51:05.206509+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F10 were set to ",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:50:47.346258+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:50:23.983294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:50:16.199219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: F10: Factor X deficiency shows variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal haemorrhage, menorrhagia, haematuria, and occasionally haemarthrosis. More than 20 unrelated families reported.",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:50:15.158229+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: None; Publications: 2790181, 2567188, 10746568, 12028042; Phenotypes: Factor X deficiency, MIM# 227600, MONDO:0009212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:49:50.553511+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F10 as ready",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:49:50.543889+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f10 has been classified as Green List (High Evidence).",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:49:36.587871+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F10 were changed from to Factor X deficiency, MIM# 227600; MONDO:0009212",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:49:13.764188+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F10 were set to ",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:48:43.497516+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:48:11.748537+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: F10: Changed phenotypes: Factor X deficiency, MIM# 227600, MONDO:0009212",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:47:40.146881+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: None; Publications: 2790181, 2567188, 10746568, 12028042; Phenotypes: Factor X deficiency, MIM# 227600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:34:03.842835+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM7 as ready",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:34:03.831612+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm7 has been classified as Red List (Low Evidence).",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:33:56.867937+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCM7 was added\ngene: MCM7 was added to Lipodystrophy_Lipoatrophy. Sources: Literature\nMode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM7 were set to 33654309; 34059554\nPhenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency\nReview for gene: MCM7 was set to RED\nAdded comment: MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present. ------ Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.\r\n\r\n- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.\r\n\r\n- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7. \nSources: Literature",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:32:26.776855+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM7 as ready",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:32:26.762966+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:29:05.487036+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM7 as Amber List (moderate evidence)",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:29:05.476258+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:28:24.178954+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCM7 was added\ngene: MCM7 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM7 were set to 33654309; 34059554\nPhenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency\nReview for gene: MCM7 was set to AMBER\nAdded comment: MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present. ------ Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.\r\n\r\n- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.\r\n\r\n- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7. \nSources: Literature",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:26:35.622526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM7 as ready",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:26:35.612640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:25:55.439321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM7 as Amber List (moderate evidence)",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T19:25:55.429131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-02T00:23:43.579907+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7749",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: MCM7 was added\ngene: MCM7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM7 were set to 33654309; 34059554\nPhenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency\nReview for gene: MCM7 was set to AMBER\nAdded comment: MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present.\r\n------\r\nCurrently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.\r\n\r\n- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment.\r\nFunctional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.\r\n\r\n- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7. \nSources: Literature",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:52:53.233783+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DTNBP1 as ready",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:52:53.223073+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtnbp1 has been classified as Green List (High Evidence).",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:52:47.350760+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:52:24.891289+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DTNBP1 were set to ",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:51:46.269434+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:51:13.828112+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12923531, 23364359, 28259707, 30990103; Phenotypes: Hermansky-Pudlak syndrome 7, MIM# 614076, MONDO:0013559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:50:22.831822+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DTNBP1 as ready",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:50:22.820564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtnbp1 has been classified as Green List (High Evidence).",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:50:10.750930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:49:47.666547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DTNBP1 were set to ",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:49:21.892349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:48:59.556508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12923531, 23364359, 28259707, 30990103; Phenotypes: Hermansky-Pudlak syndrome 7, MIM# 614076, MONDO:0013559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:47:53.380809+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DTNBP1 as ready",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:47:53.368658+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtnbp1 has been classified as Green List (High Evidence).",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:47:47.517650+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DTNBP1 were changed from Hermansky-Pudlak syndrome 7, MIM# 614076 to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:47:15.678044+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:46:43.924202+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DTNBP1 were set to ",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:46:21.444576+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:45:54.728928+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12923531, 23364359, 28259707, 30990103; Phenotypes: Hermansky-Pudlak syndrome 7, MIM# 614076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:40:22.138501+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:40:22.127440+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:40:14.388925+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from to Greig cephalopolysyndactyly syndrome, MIM# 175700; Pallister-Hall syndrome, MIM# 146510; Polydactyly, postaxial, types A1 and B, MIM# 174200; Polydactyly, preaxial, type IV, MIM# 174700",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:39:42.841762+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLI3 were set to ",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-06-01T20:21:18.161637+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.192",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32591344; Phenotypes: Greig cephalopolysyndactyly syndrome, MIM# 175700, Pallister-Hall syndrome, MIM# 146510, Polydactyly, postaxial, types A1 and B, MIM# 174200, Polydactyly, preaxial, type IV, MIM# 174700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:30:35.974194+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S3 as ready",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:30:35.962276+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s3 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:30:33.068943+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:30:01.449638+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLOC1S3 were set to ",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:29:38.243451+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:29:08.899049+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385460, 22709368, 32687635; Phenotypes: Hermansky-Pudlak syndrome 8, MIM# 614077, MONDO:0013560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:28:30.199118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S3 as ready",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:28:30.188550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s3 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:28:22.150144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:28:03.023617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLOC1S3 were set to ",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:27:42.713225+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:27:24.597904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385460, 22709368, 32687635; Phenotypes: Hermansky-Pudlak syndrome 8, MIM# 614077, MONDO:0013560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:26:34.797285+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S3 as ready",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:26:34.786804+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s3 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:26:32.388038+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLOC1S3 were changed from Hermansky-Pudlak syndrome 8, MIM# 614077 to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:26:05.176539+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:25:17.361259+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLOC1S3 were set to ",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:24:54.648277+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:24:30.146169+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385460, 22709368, 32687635; Phenotypes: Hermansky-Pudlak syndrome 8, MIM# 614077; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:21:19.798774+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3B1 as ready",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:21:19.788599+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3b1 has been classified as Green List (High Evidence).",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2021-06-01T19:21:16.833599+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997",
"entity_name": "AP3B1",
"entity_type": "gene"
}
]
}