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{
"count": 220862,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=713",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=711",
"results": [
{
"created": "2022-10-15T12:39:21.368873+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from to Joubert syndrome 9, MIM#612285",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:38:25.361562+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D2A were set to ",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:37:46.122905+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:37:12.910072+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: CC2D2A: Seizures are a feature particularly of JBTS.",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:36:18.153655+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASK as ready",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:36:18.138478+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cask has been classified as Green List (High Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:36:10.349332+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:35:31.166508+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASK were set to ",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:35:01.097625+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASK was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:34:26.584620+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:33:01.557113+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA2D1 as ready",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:33:01.540141+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna2d1 has been classified as Green List (High Evidence).",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:28:20.973305+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBL as ready",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:28:20.963491+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbl has been classified as Red List (Low Evidence).",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:28:17.561487+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:28:04.887959+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CBL as Red List (low evidence)",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:28:04.879222+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbl has been classified as Red List (Low Evidence).",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:27:52.533328+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:26:03.250010+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASQ2 as ready",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:26:03.234541+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casq2 has been classified as Red List (Low Evidence).",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:25:59.389293+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:25:48.443746+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASQ2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:25:26.022252+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASQ2 as Red List (low evidence)",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:25:26.005821+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casq2 has been classified as Red List (Low Evidence).",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:24:36.538034+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CASQ2.",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:24:23.814248+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CASQ2.\nTag treatable tag was added to gene: CASQ2.",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:24:11.095951+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:18:33.181904+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASK as ready",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:18:33.172579+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cask has been classified as Red List (Low Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:18:29.250495+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from Mental retardation and microcephaly with pontine and cerebellar hypoplasia to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:18:16.877543+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:18:06.932557+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASK as Red List (low evidence)",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:18:06.922956+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cask has been classified as Red List (Low Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:17:54.995098+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FG syndrome 4 MIM#300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749, Mental retardation, with or without nystagmus MIM#300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:16:02.069766+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD11 as ready",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:16:02.052748+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card11 has been classified as Green List (High Evidence).",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:15:58.604191+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARD11 were changed from Immunodeficiency 11A, MIM#\t615206 to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2022-10-15T12:15:41.807552+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:47:47.669280+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:47:47.659918+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Red List (Low Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:47:40.305382+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD7 were changed from CHARGE syndrome to CHARGE syndrome, MIM# 214800",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:47:28.369827+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD7 as Red List (low evidence)",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:47:28.361568+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Red List (Low Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:47:17.715729+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:46:08.849877+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA2 as ready",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:46:08.840667+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca2 has been classified as Green List (High Evidence).",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:46:01.269075+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:45:30.844115+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:45:04.893440+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:44:21.019971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CA2.",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:43:57.606807+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA2 as ready",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:43:57.597024+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca2 has been classified as Green List (High Evidence).",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:43:54.272652+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:43:41.614070+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CA2.",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:43:30.387626+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:38:35.737560+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAPN3 as ready",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:38:35.729137+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capn3 has been classified as Red List (Low Evidence).",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:38:31.929473+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, type 2A to Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:38:18.153729+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPN3 as Red List (low evidence)",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:38:18.137224+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capn3 has been classified as Red List (Low Evidence).",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:38:06.731315+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAPN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:36:15.130400+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1F as ready",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:36:15.120989+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1f has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:36:11.652779+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1F were changed from Night blindness, congenital stationary (complete), 1A, X-linked to Aland Island eye disease MIM#300600; Cone-rod dystrophy, X-linked, 3 MIM#300476; Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:35:58.343925+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1F as Red List (low evidence)",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:35:58.332766+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1f has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:35:47.625651+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1F: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aland Island eye disease MIM#300600, Cone-rod dystrophy, X-linked, 3 MIM#300476, Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:33:36.276409+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1A as ready",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:33:36.266350+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:33:32.649411+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 to Episodic ataxia, type 2, MIM# 108500",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:33:20.502098+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1A as Red List (low evidence)",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:33:20.492248+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:33:08.577357+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 2, MIM# 108500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:29:23.188300+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CABP2 as ready",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:29:23.162740+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cabp2 has been classified as Green List (High Evidence).",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2022-10-15T11:29:14.145655+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:23:43.918931+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA5 were changed from Bent bone dysplasia to Bent bone dysplasia syndrome 2, MIM# 620076",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:23:14.439687+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bent bone dysplasia syndrome 2, MIM# 620076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:22:49.250907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA5 were changed from bent bone dysplasia; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay to Bent bone dysplasia syndrome 2, MIM# 620076; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:22:17.697187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAMA5: Changed phenotypes: Nephrotic syndrome, type 26 620049, Bent bone dysplasia syndrome 2, MIM# 620076",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:21:07.545113+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPR were changed from Intellectual disability; seizures; dysmorphic features to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:20:38.424033+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HNRNPR: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:20:24.291325+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPR were changed from Intellectual disability; seizures to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:19:49.201654+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HNRNPR: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:19:26.906945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPR were changed from Intellectual disability; seizures to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#\t620073",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:19:03.086835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HNRNPR: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:17:05.361800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF14 were changed from Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003 to Spinocerebellar ataxia 27, MIM# 609307; Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:16:31.546949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF14: Changed phenotypes: Spinocerebellar ataxia 27, MIM# 609307, Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:16:10.009041+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF14 as ready",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:16:09.993158+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf14 has been classified as Green List (High Evidence).",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:16:05.951566+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF14 were changed from to Spinocerebellar ataxia 27, MIM# 609307; Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:15:31.157658+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:14:59.711731+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF14: Changed phenotypes: Spinocerebellar ataxia 27, MIM# 609307, Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:13:22.465730+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF14 were changed from Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227 to Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-10-15T08:12:46.482790+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:52:27.910828+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST3 as ready",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:52:27.900725+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst3 has been classified as Green List (High Evidence).",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:52:23.437956+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHST3 as Green List (high evidence)",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:52:23.429348+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst3 has been classified as Green List (High Evidence).",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:49:47.666003+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHD were changed from Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Paragangliomas 1, with or without deafness, MIM# 168000",
"entity_name": "SDHD",
"entity_type": "gene"
}
]
}