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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1264",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1262",
"results": [
{
"created": "2021-07-20T16:47:24.186708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CHRNA4 was changed from to Other",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:47:04.790731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:46:45.202731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNA4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 14623738, 23114665; Phenotypes: Epilepsy, nocturnal frontal lobe, 1, MIM# 600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:46:35.230851+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA4 as ready",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:46:35.214533+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna4 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:45:46.737451+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA4 were changed from to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:45:20.211794+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNA4 were set to ",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:44:42.265647+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CHRNA4 was changed from to Other",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:44:20.042925+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:42:40.568280+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD27 as ready",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:42:40.558703+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd27 has been classified as Green List (High Evidence).",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:42:36.103085+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD27 were changed from to Lymphoproliferative syndrome 2; CD27-deficiency MIM# 615122; hepatosplenomegaly; reduced CD8+ T-cell function; lymphadenopathy; hepatosplenomegaly; fever; increased susceptibility to EBV infection; aplastic anaemia",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:42:04.727779+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD27 were set to ",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:41:39.151632+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:40:10.771137+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCBE1 as ready",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:40:10.760435+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccbe1 has been classified as Green List (High Evidence).",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:39:59.421145+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; lymphangiectasia and lymphoedema; facial abnormalities; dysmorphic features; hypoalbuminaemia; intellectual disability; hypoglobulinaemia",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:39:30.885975+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCBE1 were set to ",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:39:14.649797+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:37:09.616204+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:37:09.606087+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:37:06.701300+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from to Bloom Syndrome MIM# 210900; Short stature, dysmorphic facies; sun-sensitive; immunoglobulin deficiency (IgA, IgG, IgM); erythema; marrow failure; leukaemia; lymphoma; chromosomal instability; predisposition to malignancies",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:36:47.919017+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLM were set to ",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:35:46.855154+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:18:04.483162+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1144",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: CHRNA4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 14623738, 23114665; Phenotypes: Epilepsy, nocturnal frontal lobe, 1, MIM# 600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T15:57:55.006701+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.208",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197273, 22801960, 22365582, 25843314, 11062504; Phenotypes: Lymphoproliferative syndrome 2, CD27-deficiency MIM# 615122, hepatosplenomegaly, reduced CD8+ T-cell function, lymphadenopathy, hepatosplenomegaly, fever, increased susceptibility to EBV infection, aplastic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-20T12:17:42.390890+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.208",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510, lymphangiectasia and lymphoedema, facial abnormalities, dysmorphic features, hypoalbuminaemia, intellectual disability, hypoglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-20T10:23:06.324375+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.208",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900, Short stature, dysmorphic facies, sun-sensitive, immunoglobulin deficiency (IgA, IgG, IgM), erythema, marrow failure, leukaemia, lymphoma, chromosomal instability, predisposition to malignancies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.689329+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZPR1 was added\ngene: ZPR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZPR1 were set to 29851065\nPhenotypes for gene: ZPR1 were set to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.636607+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XRCC4 was added\ngene: XRCC4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XRCC4 were set to 25728776\nPhenotypes for gene: XRCC4 were set to short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.585478+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WRN was added\ngene: WRN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRN were set to Werner syndrome",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.533959+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THRB was added\ngene: THRB was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: THRB was set to Unknown",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.483953+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.434479+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAT5B was added\ngene: STAT5B was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.384098+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPRED1 was added\ngene: SPRED1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPRED1 were set to 21548021; 17704776; 19443465; 19366998; 21649642\nPhenotypes for gene: SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.331224+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX3 was added\ngene: SOX3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: SOX3 were set to 15800844\nPhenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, OMIM:312000; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Panhypopituitarism, X-linked, MONDO:0010712; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252\nMode of pathogenicity for gene: SOX3 was set to Other - please provide details in the comments",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.276716+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX2 was added\ngene: SOX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.227950+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC3 was added\ngene: SMC3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMC3 were set to Cornelia De Lange",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.174739+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC1A was added\ngene: SMC1A was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: SMC1A were set to Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771; Cornelia de Lange syndrome 2, MONDO:0010370; Cornelia de Lange syndrome 2, OMIM:300590; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.110550+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SMARCAL1 was set to Unknown",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.060579+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHOX2 was added\ngene: SHOX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SHOX2 was set to Unknown",
"entity_name": "SHOX2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:20.006517+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHOX was added\ngene: SHOX was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.950316+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMD9 was added\ngene: SAMD9 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SAMD9 were set to 27182967\nPhenotypes for gene: SAMD9 were set to MIRAGE syndrome, 617053\nMode of pathogenicity for gene: SAMD9 was set to Other - please provide details in the comments",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.901498+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS6KA3 was added\ngene: RPS6KA3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: RPS6KA3 were set to Coffin Lowry",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.846962+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL10 was added\ngene: RPL10 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RPL10 were set to 25316788\nPhenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.795934+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROR2 was added\ngene: ROR2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROR2 were set to Robinow",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.744922+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU4ATAC were set to 21474760\nPhenotypes for gene: RNU4ATAC were set to MOPD I",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.694219+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBBP8 was added\ngene: RBBP8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBBP8 were set to 24389050, 21998596\nPhenotypes for gene: RBBP8 were set to seckel syndrome but with proportionate head/height impairment, cafe au lair macules",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.641752+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAPSN was added\ngene: RAPSN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAPSN were set to Fetal Akinesia Deformation Sequence; Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.585727+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD21 was added\ngene: RAD21 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAD21 were set to Cornelia De Lange",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.535221+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROP1 was added\ngene: PROP1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.486295+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROKR2 was added\ngene: PROKR2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: PROKR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PROKR2 were set to 22319038\nPhenotypes for gene: PROKR2 were set to hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.437148+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU1F1 was added\ngene: POU1F1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: POU1F1 were set to GH, PRL deficiencies; variable degree of TSH deficiency",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.388562+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA6 were set to 25480986\nPhenotypes for gene: PNPLA6 were set to Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.338971+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PITX2 was added\ngene: PITX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PITX2 were set to AXENFELD-RIEGER SYNDROME",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.288591+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCNT was added\ngene: PCNT was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCNT were set to 18157127; 18174396\nPhenotypes for gene: PCNT were set to Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720; MOPDII",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.239146+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAPPA2 was added\ngene: PAPPA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: PAPPA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAPPA2 were set to 26902202\nPhenotypes for gene: PAPPA2 were set to Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.189071+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTX2 was added\ngene: OTX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OTX2 were set to 18728160\nPhenotypes for gene: OTX2 were set to Microcephaly, bilateral anopthalmia, developmental delay, cleft palate",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.136208+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC6 was added\ngene: ORC6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ORC6 were set to 21358632\nPhenotypes for gene: ORC6 were set to Meier-Gorlin; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin syndrome 3, 613803",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.087291+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC4 was added\ngene: ORC4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ORC4 were set to 21358632\nPhenotypes for gene: ORC4 were set to Meier-Gorlin syndrome 2, 613800; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:19.038612+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC1 was added\ngene: ORC1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ORC1 were set to 21358632\nPhenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, 224690; microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia; Meier-Gorlin",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.990429+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NIPBL was added\ngene: NIPBL was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NIPBL were set to Cornelia De Lange",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.942547+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCM5 was added\ngene: MCM5 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM5 were set to 28198391\nPhenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.894182+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG4 was added\ngene: LIG4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG4 were set to 11779494, 16088910,\nPhenotypes for gene: LIG4 were set to microcephaly, growth retardation, immunodeficiency, developmental delay",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.845011+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG1 was added\ngene: LIG1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG1 were set to 1581963, 1351188\nPhenotypes for gene: LIG1 were set to immunodeficiency, sun sensitivity, growth reatrdation",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.795468+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHX4 was added\ngene: LHX4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LHX4 were set to 11567216, 18073311\nPhenotypes for gene: LHX4 were set to hypopituitarism",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.746519+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHX3 was added\ngene: LHX3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHX3 were set to GH, TSH, LH, FSH, PRL deficiencies",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.697962+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KMT2D were set to Kabuki",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.650064+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KHDC3L was added\ngene: KHDC3L was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: KHDC3L was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: KHDC3L were set to 29574422\nPhenotypes for gene: KHDC3L were set to pregnancy loss; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; Failure to thrive; IUGR",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.592335+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM6A was added\ngene: KDM6A was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: KDM6A were set to Kabuki",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.544218+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INTS8 was added\ngene: INTS8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS8 were set to 28542170\nPhenotypes for gene: INTS8 were set to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572",
"entity_name": "INTS8",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.495921+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INSR was added\ngene: INSR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INSR were set to Leprechaunism",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.440172+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGFBP3 was added\ngene: IGFBP3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: IGFBP3 was set to Unknown\nPublications for gene: IGFBP3 were set to 10364674\nPhenotypes for gene: IGFBP3 were set to Silver Russell Syndrome",
"entity_name": "IGFBP3",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.391816+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGFBP1 was added\ngene: IGFBP1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: IGFBP1 was set to Unknown\nPublications for gene: IGFBP1 were set to 10364674\nPhenotypes for gene: IGFBP1 were set to Silver-Russell Syndrome",
"entity_name": "IGFBP1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.344969+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGFALS was added\ngene: IGFALS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGFALS were set to 14762184\nPhenotypes for gene: IGFALS were set to very low IGF-I levels; Short stature; delayed puberty",
"entity_name": "IGFALS",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.297866+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT172 was added\ngene: IFT172 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT172 were set to 25664603\nPhenotypes for gene: IFT172 were set to GH deficiency, retinopathy, metaphyseal dysplasia",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.251199+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HESX1 was added\ngene: HESX1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HESX1 were set to Septo-optic dysplasia; variable involvement of pituitary hormones",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.203919+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC8 was added\ngene: HDAC8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: HDAC8 were set to Cornelia De Lange",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.152135+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: H19 was added\ngene: H19 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: H19 was set to Unknown\nPhenotypes for gene: H19 were set to Russell-Silver syndrome",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.098918+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPR161 was added\ngene: GPR161 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: GPR161 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPR161 were set to 25322266\nPhenotypes for gene: GPR161 were set to Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.052989+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI3 was added\ngene: GLI3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLI3 were set to 9054938\nPhenotypes for gene: GLI3 were set to Pallister-Hall syndrome",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:18.005406+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI2 was added\ngene: GLI2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLI2 were set to Holoprosencephaly, hypopituitarism",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.957755+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GHSR was added\ngene: GHSR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GHSR were set to 16511605\nPhenotypes for gene: GHSR were set to Idiopathic short stature, GH deficiency",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.911570+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GHRHR was added\ngene: GHRHR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GHRHR were set to Growth hormone deficiency",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.864325+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GHR was added\ngene: GHR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GHR were set to Laron syndrome",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.818288+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GH1 was added\ngene: GH1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GH1 were set to Growth hormone deficiency",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.771618+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGFR1 were set to 22319038",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.726817+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF8 was added\ngene: FGF8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGF8 were set to 22319038\nPhenotypes for gene: FGF8 were set to hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.681724+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGD1 was added\ngene: FGD1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FGD1 were set to Aarskog",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.635813+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCM was added\ngene: FANCM was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCM were set to 16116422; 25078778; 19423727\nPhenotypes for gene: FANCM were set to Fanconi anemia, complementation group M, 614087; Fanconi anemia; Fanconi Anemia",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.584256+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC8 was added\ngene: ERCC8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC8 were set to cockayne",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.538976+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC6 was added\ngene: ERCC6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.491841+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPHX1 was added\ngene: EPHX1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: EPHX1 was set to Unknown\nPhenotypes for gene: EPHX1 were set to ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.446921+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EP300 was added\ngene: EP300 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EP300 were set to Rubenstein Taybi",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.401998+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOK7 was added\ngene: DOK7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: DOK7 was set to Unknown\nPhenotypes for gene: DOK7 were set to Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.357273+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNA2 was added\ngene: DNA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNA2 were set to 24389050; 31045292\nPhenotypes for gene: DNA2 were set to Seckel syndrome 8, OMIM:615807",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.311435+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR7 were set to Smith Lemli Opitz",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.263707+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRIPT was added\ngene: CRIPT was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRIPT were set to PMC3912419\nPhenotypes for gene: CRIPT were set to frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.219199+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CREBBP was added\ngene: CREBBP was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CREBBP were set to Rubenstein Taybi",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-07-19T18:37:17.171413+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL1A1 was added\ngene: COL1A1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type III, 259420; OI; Osteogenesis imperfecta, type IV, 166220",
"entity_name": "COL1A1",
"entity_type": "gene"
}
]
}