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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1515",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1513",
"results": [
{
"created": "2020-11-02T17:48:49.334915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASAH1 were changed from to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:48:08.189444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:47:37.941682+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950, Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:46:15.089230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX32 as ready",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:46:15.077456+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:46:05.833014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHX32 as Amber List (moderate evidence)",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:46:05.824072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:45:43.011113+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX32 as ready",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:45:42.998600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:45:25.965818+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHX32 as Amber List (moderate evidence)",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:45:25.955595+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:44:32.584111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNF as ready",
"entity_name": "TNF",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:44:32.573887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnf has been classified as Red List (Low Evidence).",
"entity_name": "TNF",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:44:25.390742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNF were set to ",
"entity_name": "TNF",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:44:06.601189+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNF as Red List (low evidence)",
"entity_name": "TNF",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:44:06.588672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnf has been classified as Red List (Low Evidence).",
"entity_name": "TNF",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:39:24.698493+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLRC2 as ready",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:39:24.687980+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc2 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:39:19.682436+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NHLRC2 as Green List (high evidence)",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:39:19.673826+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc2 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:38:44.633180+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLRC2 as ready",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:38:44.622862+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc2 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:38:42.636502+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NHLRC2 as Green List (high evidence)",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:38:42.623957+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc2 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:38:21.272324+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NHLRC2 as Green List (high evidence)",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:38:21.264646+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc2 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:35:40.705390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALK as ready",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:35:40.696454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alk has been classified as Green List (High Evidence).",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:35:33.232276+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALK were changed from to {Neuroblastoma, susceptibility to, 3} 613014; Spastic-dystonic diplegia",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:35:16.282560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALK were set to ",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:34:48.267605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:34:30.329353+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32989326, 18724359; Phenotypes: {Neuroblastoma, susceptibility to, 3} 613014, Spastic-dystonic diplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:31:43.165480+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALK as ready",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:31:43.154268+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alk has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:31:31.185297+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALK as Amber List (moderate evidence)",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:31:31.174787+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alk has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:31:10.114000+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALK as ready",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:31:10.095185+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alk has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:27:55.785100+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALK as Amber List (moderate evidence)",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:27:55.774503+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alk has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:27:13.550174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHOB as ready",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:27:13.535200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhob has been classified as Amber List (Moderate Evidence).",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:25:14.479599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHOB were changed from Cerebral Palsy (PMID:32989326) to Cerebral Palsy",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:25:00.218182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHOB as Amber List (moderate evidence)",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:25:00.210670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhob has been classified as Amber List (Moderate Evidence).",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:24:09.628303+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA1A were changed from Cerebral Palsy (PMID:32989326) to Lissencephaly 3, MIM# 611603; Cerebral palsy",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:23:32.363812+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: None",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:23:24.093316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5259",
"user_name": "Sue White",
"item_type": "entity",
"text": "edited their review of gene: ASAH1: Changed publications: 32875576, 32449975",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:21:44.635535+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant to Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:21:16.564560+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979 to Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:20:36.171613+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXO31 were set to 24623383",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:20:03.804990+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FBXO31 was changed from to Other",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:19:25.496222+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO31 as Amber List (moderate evidence)",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:19:25.486043+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo31 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:16:17.916760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979 to Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:15:39.678908+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5258",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: DHX32 was added\ngene: DHX32 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DHX32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHX32 were set to PMID: 32989326\nPhenotypes for gene: DHX32 were set to Intellectual disability, spastic diplegia, dystonia, brain abnormalities\nReview for gene: DHX32 was set to AMBER\nAdded comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two unrelated patients with intellectual disability, one with spastic diplegia, and the other characterised as generalised dystonia. Brain abnormalities were identified also. \nSources: Literature",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:14:08.250021+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXO31 were set to 24623383",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:13:19.396247+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5257",
"user_name": "Sue White",
"item_type": "entity",
"text": "reviewed gene: ASAH1: Rating: ; Mode of pathogenicity: None; Publications: 32875576; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:13:14.275762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FBXO31 was changed from None to Other",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:13:05.656663+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3132",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: DHX32 was added\ngene: DHX32 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DHX32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHX32 were set to PMID: 32989326\nPhenotypes for gene: DHX32 were set to Intellectual disability, spastic diplegia, dystonia, brain abnormalities\nReview for gene: DHX32 was set to AMBER\nAdded comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two unrelated patients with intellectual disability, one with spastic diplegia, and the other characterised as generalised dystonia. Brain abnormalities were identified also. \nSources: Literature",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:11:47.964329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXO31 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:11:31.704039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO31 as Amber List (moderate evidence)",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:11:31.693476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo31 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:10:28.977755+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPAST as ready",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:10:28.973086+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Gene-disease association with spasticity is well established, individuals identified in a CP cohort.",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:10:28.942254+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spast has been classified as Green List (High Evidence).",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:07:43.454277+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPAST as Green List (high evidence)",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:07:43.443258+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spast has been classified as Green List (High Evidence).",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:07:03.109119+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.155",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: ALK was added\ngene: ALK was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALK were set to PMID: 32989326\nPhenotypes for gene: ALK were set to Spastic-dystonic diplegia\nReview for gene: ALK was set to AMBER\nAdded comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two patients with spastic diplegia with mild tremor, scattered subcortical hyperintensities and an atrial septal defect; and spastic-dystonic diplegia, white matter abnormalities and epilepsy, respectively, with no evidence of neuroblastoma in either patient \nSources: Literature",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:06:57.827338+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3132",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: FBXO31: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 32989326; Phenotypes: Mental retardation, autosomal recessive 45, MIM#615979, Cerebral palsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:05:48.543047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5254",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: TNF: Rating: RED; Mode of pathogenicity: None; Publications: 26117714; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TNF",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:05:44.441924+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX32 as ready",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:05:44.429962+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:05:40.840151+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5254",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "changed review comment from: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.; to: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.\r\n\r\nExtended patient phenotypes: Spastic diplegia, with esotropia, ID, dysarthria, mixed receptive/expressive language disorder, ADHD, cleft palate, intestinal malrotation and midgut volvulus (patient 1); Spastic paraplegia with ventricular dilation and thin corpus callosum, ID, attention deficit, anxiety, language impairments, strabismus, severe constipation (patient 2).",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:05:38.941867+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHX32 as Amber List (moderate evidence)",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:05:38.932275+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:05:29.739853+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.51",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "changed review comment from: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression. \r\n\r\nExtended patient phenotypes: Esotropia, ID, dysarthria, mixed receptive/expressive language disorder, ADHD, cleft palate, intestinal malrotation and midgut volvulus (patient 1); Ventricular dilation and thin corpus callosum, ID, attention deficit, anxiety, language impairments, strabismus, severe constipation (patient 2).\r\n\r\nSources: Literature; to: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression. \r\n\r\nExtended patient phenotypes: Spastic diplegia, with esotropia, ID, dysarthria, mixed receptive/expressive language disorder, ADHD, cleft palate, intestinal malrotation and midgut volvulus (patient 1); Spastic paraplegia with ventricular dilation and thin corpus callosum, ID, attention deficit, anxiety, language impairments, strabismus, severe constipation (patient 2).\r\n\r\nSources: Literature",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:05:00.636313+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.51",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "changed review comment from: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression. \nSources: Literature; to: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression. \r\n\r\nExtended patient phenotypes: Esotropia, ID, dysarthria, mixed receptive/expressive language disorder, ADHD, cleft palate, intestinal malrotation and midgut volvulus (patient 1); Ventricular dilation and thin corpus callosum, ID, attention deficit, anxiety, language impairments, strabismus, severe constipation (patient 2).\r\n\r\nSources: Literature",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:04:42.748643+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.51",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: SPAST was added\ngene: SPAST was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPAST were set to 32989326\nPhenotypes for gene: SPAST were set to Cerebral Palsy (PMID:32989326)\nReview for gene: SPAST was set to AMBER\nAdded comment: 2 different de novo missense variants reported in CP cohort. Both patients presented with spasticity. \nSources: Expert list",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:04:28.073218+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATL1 as ready",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:04:28.061015+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:04:15.880481+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATL1 as Amber List (moderate evidence)",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:04:15.872013+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:04:08.332765+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.205",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: NHLRC2 was added\ngene: NHLRC2 was added to Regression. Sources: Literature\nMode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NHLRC2 were set to 29423877; 32435055\nPhenotypes for gene: NHLRC2 were set to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278\nReview for gene: NHLRC2 was set to GREEN\ngene: NHLRC2 was marked as current diagnostic\nAdded comment: 3 families with compound het variants in total, all share one missense variant (p.Asp148Tyr)\r\n\r\nPMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.\r\n\r\nPMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel. \nSources: Literature",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:03:58.579736+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.152",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: ALK was added\ngene: ALK was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALK were set to PMID: 32989326\nPhenotypes for gene: ALK were set to Spastic-dystonic diplegia\nReview for gene: ALK was set to AMBER\nAdded comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two patients with spastic diplegia with mild tremor, scattered subcortical hyperintensities and an atrial septal defect; and spastic-dystonic diplegia, white matter abnormalities and epilepsy, respectively, with no evidence of neuroblastoma in either patient \nSources: Literature",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:02:47.575664+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.15",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: NHLRC2 was added\ngene: NHLRC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NHLRC2 were set to 29423877; 32435055\nPhenotypes for gene: NHLRC2 were set to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278\nReview for gene: NHLRC2 was set to GREEN\ngene: NHLRC2 was marked as current diagnostic\nAdded comment: 3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)\r\n\r\nPMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.\r\n\r\nPMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel. \nSources: Literature",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:02:16.696109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLRC2 as ready",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:02:16.685136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc2 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:02:05.194072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHLRC2 were changed from to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:01:58.211893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5253",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: FBXO31: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 32989326; Phenotypes: Cerebral palsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:01:34.620468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHLRC2 were set to ",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:01:21.679429+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.50",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: DHX32 was added\ngene: DHX32 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DHX32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHX32 were set to PMID: 32989326\nPhenotypes for gene: DHX32 were set to Intellectual disability, spastic diplegia, dystonia, brain abnormalities\nReview for gene: DHX32 was set to AMBER\nAdded comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two unrelated patients with intellectual disability, one with spastic diplegia, and the other characterised as generalised dystonia. Brain abnormalities were identified also. \nSources: Literature",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:01:08.543602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHLRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:00:25.518303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5251",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: RHOB was added\ngene: RHOB was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RHOB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RHOB were set to 32989326\nPhenotypes for gene: RHOB were set to Cerebral Palsy (PMID:32989326)\nMode of pathogenicity for gene: RHOB was set to Other\nReview for gene: RHOB was set to AMBER\nAdded comment: Candidate disease-causing gene for CP. Recurrent de novo missense variant reported in 2 unrelated families with supporting functional studies. \nSources: Expert list",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:00:04.509939+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.58",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: BCAP31 as Green List (high evidence)",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2020-11-02T16:00:04.497415+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.58",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: bcap31 has been classified as Green List (High Evidence).",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2020-11-02T15:59:27.796018+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.57",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: BCAP31 was added\ngene: BCAP31 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: BCAP31 were set to 32681719\nPhenotypes for gene: BCAP31 were set to XL-Schimke; deafness, dystonia and hypomyelination phenotype\nAdded comment: Deafness, dystonia and hypomyelination phenotype with short stature and features of XL-Schimke syndrome (MIM 300475) \nSources: Literature",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2020-11-02T15:58:34.867193+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.50",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RHOB as ready",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2020-11-02T15:58:34.839568+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.50",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rhob has been classified as Amber List (Moderate Evidence).",
"entity_name": "RHOB",
"entity_type": "gene"
},
{
"created": "2020-11-02T15:58:31.322340+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.50",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RHOB as Amber List (moderate evidence)",
"entity_name": "RHOB",
"entity_type": "gene"
}
]
}