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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1386",
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"results": [
{
"created": "2021-03-14T12:46:36.095198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENTPD1 were set to ",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:46:17.283462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ENTPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:45:57.378242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 30652007; Phenotypes: Spastic paraplegia 64, autosomal recessive MIM#615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:45:10.621558+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENTPD1 as ready",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:45:10.607478+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: entpd1 has been classified as Green List (High Evidence).",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:45:07.310067+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64, 615683 to Spastic paraplegia 64, autosomal recessive MIM#615683",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:44:37.343122+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENTPD1 were set to ",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:42:30.710468+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:42:22.347970+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:41:51.599772+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf65 as ready",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:41:51.589484+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf65 has been classified as Green List (High Evidence).",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:41:47.783705+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:41:39.432333+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:41:10.518757+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:40:40.475917+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:40:05.805042+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM#615035, Combined oxidative phosphorylation deficiency 7, MIM# 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:38:38.907409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf65 as ready",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:38:38.898769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf65 has been classified as Green List (High Evidence).",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:38:26.787057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:38:04.240568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:37:45.142560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:37:24.600147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:28:41.944766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM#615035, Combined oxidative phosphorylation deficiency 7, MIM# 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:25:16.871266+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:25:08.781441+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf65 as ready",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:25:08.770250+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf65 has been classified as Green List (High Evidence).",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:24:50.539410+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:24:36.087378+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM# 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:21:35.732351+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C19orf12 as ready",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:21:35.715324+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Green List (High Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:21:33.041594+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C19orf12 were changed from Mitochondrial membrane protein-associated neurodegeneration (MPAN) to Mitochondrial membrane protein-associated neurodegeneration (MPAN); Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:21:21.182582+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to ",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:21:11.419679+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:19:21.749371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C19orf12 as ready",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:19:21.739150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Green List (High Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:19:13.745532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:18:54.479990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to ",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:18:36.169037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:18:17.905897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:17:53.215652+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:17:13.299764+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C19orf12 as ready",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:17:13.288671+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Green List (High Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:17:10.178993+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to ",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:16:55.079372+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:10:49.735328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP2U1 as ready",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:10:49.726397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2u1 has been classified as Green List (High Evidence).",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:10:42.333144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2U1 were changed from to Spastic paraplegia 56, autosomal recessive, MIM#615030",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:10:24.041691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP2U1 were set to ",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:10:04.765541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP2U1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:09:46.142123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:09:34.863357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CYP2U1: Added comment: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade. More than 5 unrelated families reported.; Changed rating: GREEN; Changed publications: 23176821, 32006740, 29034544",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:08:44.116363+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade.; to: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade. More than 5 unrelated families reported.",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:08:26.762529+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP2U1 as ready",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:08:26.751334+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2u1 has been classified as Green List (High Evidence).",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:08:22.049611+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP2U1 were set to ",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:08:02.738487+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 32006740, 29034544; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM# 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:47:15.255281+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMPD2 as ready",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:47:15.243915+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ampd2 has been classified as Red List (Low Evidence).",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:47:12.834462+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMPD2 were changed from Pontocerebellar hypoplasia, type 9, 615809, AR; Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic); ?Spastic paraplegia 63, 615686, AR to Spastic paraplegia 63 MIM#615686",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:46:03.998809+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HARS2 as ready",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:46:03.976928+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hars2 has been classified as Red List (Low Evidence).",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:45:53.590461+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HARS2 were changed from Perrault syndrome 2 to Perrault syndrome 2, MIM#614926",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:45:12.669349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFRD1 as ready",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:45:12.657805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifrd1 has been classified as Red List (Low Evidence).",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:44:16.603169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFRD1 was added\ngene: IFRD1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IFRD1 were set to 29362493\nPhenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia\nReview for gene: IFRD1 was set to RED\nAdded comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD. \nSources: Expert Review",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:44:12.838656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFRD1 was added\ngene: IFRD1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IFRD1 were set to 29362493\nPhenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia\nReview for gene: IFRD1 was set to RED\nAdded comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD. \nSources: Expert Review",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:42:31.573398+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFRD1 as ready",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:42:31.561121+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifrd1 has been classified as Red List (Low Evidence).",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:42:26.438682+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: IFRD1.",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:40:59.852621+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLC4 as ready",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:40:59.841277+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klc4 has been classified as Red List (Low Evidence).",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:40:56.952281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLC4 as ready",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:40:56.944117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klc4 has been classified as Red List (Low Evidence).",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:40:47.371224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLC4 was added\ngene: KLC4 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: KLC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLC4 were set to 26423925\nPhenotypes for gene: KLC4 were set to Complicated hereditary spastic paraplegia\nReview for gene: KLC4 was set to RED\nAdded comment: Single family reported. \nSources: Expert Review",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:38:56.810490+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARS2 as ready",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:38:56.802616+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Red List (Low Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:38:53.376671+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 to Perrault syndrome 4 MIM#615300",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:38:24.136133+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MARS as ready",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:38:24.128308+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars has been classified as Red List (Low Evidence).",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:38:21.215562+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARS were changed from Complicated hereditary spastic paraplegia to Complicated hereditary spastic paraplegia; Charcot-Marie-Tooth disease, axonal, type 2U, MIM#\t616280",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:37:35.214209+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTPAP as ready",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:37:35.204047+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtpap has been classified as Red List (Low Evidence).",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:37:15.468160+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A3 as ready",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:37:15.457632+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:37:12.996697+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A3 were changed from Biotin-thiamine-responsive basal ganglia disease to Biotin-thiamine-responsive basal ganglia disease, MIM#607483",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:36:32.059491+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPP1 as ready",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:36:32.048005+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp1 has been classified as Red List (Low Evidence).",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:36:29.261634+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis neuronal 2 to Ceroid lipofuscinosis neuronal 2, MIM#204500",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:35:35.296203+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4M1 as ready",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:35:35.287736+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Red List (Low Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:35:30.878302+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:35:02.739014+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:34:34.376147+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:34:11.119945+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP4M1 as Red List (low evidence)",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:34:11.111506+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Red List (Low Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:33:35.774565+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:32:16.694059+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP4M1 as Green List (high evidence)",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:32:16.686353+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Green List (High Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:31:49.367435+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4M1 as ready",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-03-13T20:31:49.356396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Green List (High Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
}
]
}