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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1227",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1225",
"results": [
{
"created": "2021-08-24T15:11:03.733421+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:10:17.127533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8935",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RAC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21167572, 10758162, 10072071, 25512081, 32542921, 31919089; Phenotypes: Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203, Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987, Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:10:04.308553+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAC2 as ready",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:10:04.297738+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rac2 has been classified as Green List (High Evidence).",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:10:00.260628+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAC2 were changed from to Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203; Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987; Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:09:38.554830+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAC2 were set to 21167572; 10758162; 10072071; 25512081; 32542921; 31919089",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:08:43.596130+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAC2 were set to ",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:07:53.156881+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RAC2 was changed from to Other",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:07:25.996389+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:05:44.302013+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTHFD1 as ready",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:05:44.289600+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfd1 has been classified as Green List (High Evidence).",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:05:31.402928+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTHFD1 were changed from to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780; Decreased Ig levels; poor antibody responses to conjugated polysaccharide antigens; low B/T/NK cells; Recurrent bacterial infection; megaloblastic anaemia; failure to thrive; neutropenia; seizures; intellectual disability; folate-responsive; Lymphopaenia",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:05:29.822957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8935",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780, Decreased Ig levels, poor antibody responses to conjugated polysaccharide antigens, low B/T/NK cells, Recurrent bacterial infection, megaloblastic anaemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive, Lymphopaenia; Phenotypes: 32414565, 19033438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:04:55.935619+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTHFD1 were set to ",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:04:31.644350+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTHFD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:04:15.892006+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTHFD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:49:40.437280+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI2 as ready",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:49:40.426556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli2 has been classified as Green List (High Evidence).",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:49:32.113221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLI2 were changed from to Culler-Jones syndrome, MIM#615849; Holoprosencephaly 9, MIM# 61082)",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:49:11.464303+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLI2 were set to ",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:48:50.488304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:48:31.229037+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Culler-Jones syndrome (CJS) is characterized by hypopituitarism, mainly growth hormone deficiency, and/or postaxial polydactyly. The phenotype is highly variable, and some individuals may have midline facial defects and developmental delay. The disorder shows incomplete penetrance and variable expressivity. Multiple families reported, short stature is a feature as a result of GH deficiency.\r\n\r\nVariants in GLI2 are also associated with HPE, at least 5 families reported. Short stature is observed more rarely, as a result of midline defect.; to: Culler-Jones syndrome (CJS) is characterized by hypopituitarism, mainly growth hormone deficiency, and/or postaxial polydactyly. The phenotype is highly variable, and some individuals may have midline facial defects and developmental delay. The disorder shows incomplete penetrance and variable expressivity. Multiple families reported.\r\n\r\nVariants in GLI2 are also associated with HPE, at least 5 families reported.",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:48:08.001965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14581620, 17096318, 33235745, 27585885, 15994174, 20685856, 30629636, 30583238; Phenotypes: Culler-Jones syndrome, MIM#615849, Holoprosencephaly 9, MIM# 61082); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:46:58.963366+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI2 as ready",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:46:58.952428+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli2 has been classified as Green List (High Evidence).",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:46:41.847567+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLI2 were changed from Holoprosencephaly, hypopituitarism to Culler-Jones syndrome, MIM#615849; Holoprosencephaly 9, MIM# 61082",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:46:27.014199+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLI2 were set to ",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:46:13.721661+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI2 as Green List (high evidence)",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:46:13.711416+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli2 has been classified as Green List (High Evidence).",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:46:00.479145+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14581620, 17096318, 33235745, 27585885, 15994174, 20685856, 30629636, 30583238; Phenotypes: Culler-Jones syndrome, MIM#615849, Holoprosencephaly 9, MIM# 61082); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:41:21.661528+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GHSR as ready",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:41:21.652228+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:41:18.839573+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GHSR were set to 19789204; 25557026",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:40:56.218835+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GHSR as Amber List (moderate evidence)",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:40:56.209511+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:40:47.200448+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GHSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557026, 19789204, 16511605; Phenotypes: Growth hormone deficiency, isolated partial, MIM# 615925; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:39:42.478091+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GHSR as ready",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:39:42.467779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:39:24.925117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GHSR were changed from to Growth hormone deficiency, isolated partial, MIM# 615925",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:39:01.136641+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GHSR were set to ",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:38:40.264650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GHSR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:38:14.894213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GHSR as Amber List (moderate evidence)",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:38:14.884166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:37:52.651447+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GHSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557026, 19789204, 16511605; Phenotypes: Growth hormone deficiency, isolated partial, MIM# 615925; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:36:31.847216+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GHSR: Changed publications: 25557026, 19789204, 16511605",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:36:16.610454+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GHSR as ready",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:36:16.599276+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:35:22.747982+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GHSR were changed from Idiopathic short stature, GH deficiency to Growth hormone deficiency, isolated partial, MIM# 615925",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:34:15.817765+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GHSR were set to 16511605",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:33:32.856403+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GHSR as Amber List (moderate evidence)",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:33:32.845693+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T14:33:22.059804+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GHSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557026, 19789204; Phenotypes: Growth hormone deficiency, isolated partial, MIM# 615925; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:55:34.667965+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.365",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9630231, 11313270, 31885011, 8810255, 15025726, 18463379; Phenotypes: Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457, Combined cellular and humoral immune defects with granulomas MIM# 233650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:49:46.274242+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.365",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "changed review comment from: Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis\r\n2 unrelated individuals; mono-allelic; loss of function; One mouse model; functional studies\r\n\r\nBoth individuals carried a de novo heterozygous missense variant (p.Asp57Asn), resulting in an impaired GTP binding domain and loss of function. \r\n\r\nBoth individuals presented from birth with recurrent perirectal/ paratracheal abscesses, failure to heal surgical wounds, and the absence of pus in infected areas, in addition to leukocytosis and neutrophilia. \r\n--------\r\nImmunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia\r\nOnly one family (2 sibs) has been reported; bi-allelic; loss of function; one mouse model.\r\n \r\nThey were homozygous for a nonsense variant p.Trp56Ter (W56X), resulting in premature termination and loss of function.\r\n\r\nClinical history included recurrent respiratory infections leading to the development of bronchiectasis, urticaria, factor XI deficiency, and hypothyroidism. \r\n\r\nTheir immunologic presentation showed a progression from selective IgA deficiency to Hypogammaglobulinaemia of all classes leading to a diagnosis of CVID. \r\n---------\r\nImmunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia \r\n13 individuals from 8 unrelated families; mono-allelic; gain of function; multiple mouse models\r\n\r\nMono-allelic missense variants were reported in each individual (5 x De Novo) and resulted in a gain-of -function. (E62K, P34H, N92T, G12R)\r\n\r\nThese individuals typically presented in infancy with frequent infections, profound leukopaenia, lymphopaenia diarrhoea and hypogammaglobulinaemia. \r\n-----\r\nAmber- Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis (loss of function)\r\nAmber- Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia (loss of function)\r\nGreen- Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia (gain of function); to: Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis\r\n2 unrelated individuals; mono-allelic; loss of function; One mouse model; functional studies\r\n\r\nBoth individuals carried a de novo heterozygous missense variant (p.Asp57Asn), resulting in an impaired GTP binding domain and loss of function. \r\n\r\nBoth individuals presented from birth with recurrent perirectal/ paratracheal abscesses, failure to heal surgical wounds, and the absence of pus in infected areas, in addition to leukocytosis and neutrophilia. \r\n--------\r\nImmunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia\r\nOnly one family (2 sibs) has been reported; bi-allelic; loss of function; one mouse model.\r\n \r\nThey were homozygous for a nonsense variant p.Trp56Ter (W56X), resulting in premature termination and loss of function.\r\n\r\nClinical history included recurrent respiratory infections leading to the development of bronchiectasis, urticaria, factor XI deficiency, and hypothyroidism. \r\n\r\nTheir immunologic presentation showed a progression from selective IgA deficiency to Hypogammaglobulinaemia of all classes leading to a diagnosis of CVID. \r\n---------\r\nImmunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia \r\n13 individuals from 8 unrelated families; mono-allelic; gain of function; multiple mouse models\r\n\r\nMono-allelic missense variants were reported in each individual (5 x De Novo) and resulted in a gain-of -function. (E62K, P34H, N92T, G12R)\r\n\r\nThese individuals typically presented in infancy with frequent infections, profound leukopaenia, lymphopaenia diarrhoea and hypogammaglobulinaemia. \r\n-----\r\nAmber- Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis (Mono-allelic; loss of function)\r\nRed- Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia (Bi-allelic; loss of function)\r\nGreen- Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia (Mono-allelic; gain of function)",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:01:44.638564+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE6D as Green List (high evidence)",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:01:44.628092+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6d has been classified as Green List (High Evidence).",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:01:18.284530+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families and functional data.; to: Two families and good functional data.",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:01:08.832224+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDE6D: Changed rating: GREEN",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:00:53.065616+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment on publications: Second family identified; to: Comment on publications: Second family identified.",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:00:29.796937+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDE6D: Changed rating: AMBER",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T12:00:10.419760+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:59:52.741775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDE6D: Changed publications: 30423442, 24166846",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:59:20.362497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE6D as Green List (high evidence)",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:59:20.352307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6d has been classified as Green List (High Evidence).",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:58:58.077643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Second family identified in the literature.; to: Comment when marking as ready: Second family identified in the literature. Good functional data.",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:58:46.242665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDE6D: Changed rating: GREEN",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:58:24.700518+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE6D as Green List (high evidence)",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:58:24.689342+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6d has been classified as Green List (High Evidence).",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:57:56.261408+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Second family identified PMID 30423442; to: Comment when marking as ready: Second family identified PMID 30423442. Good functional data.",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:57:46.995580+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDE6D: Changed rating: GREEN",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:49:33.652222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GHRHR as ready",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:49:33.642885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghrhr has been classified as Green List (High Evidence).",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:49:26.404995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GHRHR were changed from to Growth hormone deficiency, isolated, type IV, MIM# 618157",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:49:08.446767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GHRHR were set to ",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:48:50.595699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GHRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:48:33.310689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GHRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528260, 10084571, 11232012; Phenotypes: Growth hormone deficiency, isolated, type IV, MIM# 618157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:47:37.718010+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GHRHR as ready",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:47:37.708058+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghrhr has been classified as Green List (High Evidence).",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:47:35.789412+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GHRHR were changed from Growth hormone deficiency to Growth hormone deficiency, isolated, type IV, MIM# 618157",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:47:26.016082+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GHRHR were set to ",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:47:18.123896+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GHRHR as Green List (high evidence)",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:47:18.114837+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghrhr has been classified as Green List (High Evidence).",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:47:09.739407+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GHRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528260, 10084571, 11232012; Phenotypes: Growth hormone deficiency, isolated, type IV, MIM# 618157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:39:14.859628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GHR as ready",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:39:14.849790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghr has been classified as Green List (High Evidence).",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:39:07.903222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GHR were changed from to Growth hormone insensitivity, partial, MIM# 604271; Laron dwarfism, MIM# 262500",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:38:51.725307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GHR were set to ",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:38:31.598923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:38:08.566907+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 1999489, 8488849, 7565946; Phenotypes: Growth hormone insensitivity, partial, MIM# 604271, Laron dwarfism, MIM# 262500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:36:46.236977+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GHR as ready",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:36:46.226185+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghr has been classified as Green List (High Evidence).",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:36:43.953147+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GHR were changed from Laron syndrome to Growth hormone insensitivity, partial, MIM# 604271; Laron dwarfism, MIM# 262500",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:36:34.561644+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GHR were set to ",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:36:25.566882+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GHR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:36:18.363058+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GHR as Green List (high evidence)",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:36:18.353303+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghr has been classified as Green List (High Evidence).",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:36:09.138181+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 1999489, 8488849, 7565946; Phenotypes: Growth hormone insensitivity, partial, MIM# 604271, Laron dwarfism, MIM# 262500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:31:18.301078+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.365",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16276422, 18463379, 20489056, 9630231, 11313270, 17476359, 8810255, 6823332; Phenotypes: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889, Combined cellular and humoral immune defects with granulomas MIM# 233650, Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2021-08-24T11:27:17.945559+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.365",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RAC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21167572, 10758162, 10072071, 25512081, 32542921, 31919089; Phenotypes: Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203, Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987, Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2021-08-24T10:53:01.945897+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.365",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32414565, 19033438; Phenotypes: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780, Decreased Ig levels, poor antibody responses to conjugated polysaccharide antigens, low B/T/NK cells, Recurrent bacterial infection, megaloblastic anaemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive, Lymphopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTHFD1",
"entity_type": "gene"
}
]
}