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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1849",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1847",
"results": [
{
"created": "2020-04-19T19:53:04.362437+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26553276, 25851414, 29126765; Phenotypes: Spastic paraplegia 77, autosomal recessive MIM#617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:50:22.703773+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25149867, 23975261; Phenotypes: Complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:47:07.849669+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RNF170 as ready",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:47:07.836807+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnf170 has been classified as Green List (High Evidence).",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:47:04.046333+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RNF170 as Green List (high evidence)",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:47:04.037214+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnf170 has been classified as Green List (High Evidence).",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:46:46.056056+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNF170 was added\ngene: RNF170 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: RNF170 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF170 were set to 31636353\nPhenotypes for gene: RNF170 were set to Hereditary spastic paraplegia\nReview for gene: RNF170 was set to GREEN\nAdded comment: Four families reported with a complicated HSP phenotype. \nSources: Literature",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:45:00.151688+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERLIN1 as ready",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:45:00.138161+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erlin1 has been classified as Green List (High Evidence).",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:44:49.204812+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Spastic paraplegia 62 MIM#615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:38:46.672396+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"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": "2020-04-19T19:25:16.365140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2351",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CPT1C as ready",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:25:16.356264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2351",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cpt1c has been classified as Green List (High Evidence).",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:24:59.707178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2351",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CPT1C as Green List (high evidence)",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:24:59.698339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2351",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cpt1c has been classified as Green List (High Evidence).",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:20:36.788020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2350",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CPT1C was added\ngene: CPT1C was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CPT1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CPT1C were set to 25751282; 23973755\nPhenotypes for gene: CPT1C were set to Spastic paraplegia 73, autosomal dominant MIM#616282\nReview for gene: CPT1C was set to GREEN\nAdded comment: Two unrelated families dominant HSP and a supportive mouse model. \nSources: Expert list",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2020-04-19T19:04:15.641365+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CLPP: Rating: RED; Mode of pathogenicity: None; Publications: 22037954; Phenotypes: Perrault syndrome 3 MIM#614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:56:51.195946+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MARS2 as ready",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:56:51.182672+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Green List (High Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:56:47.687679+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MARS2 as Green List (high evidence)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:56:47.681895+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: CNVs (duplications) are the only reported cause of this condition, which may not be detected using WES.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:56:47.653873+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Green List (High Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:55:17.833471+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MARS2 was added\ngene: MARS2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nSV/CNV tags were added to gene: MARS2.\nMode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MARS2 were set to 16672289; 22448145\nPhenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390\nReview for gene: MARS2 was set to GREEN\nAdded comment: Large duplications identified in 17 French-Canadian families. Spasticity can be present at birth and precede ataxia. \nSources: Expert list",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:50:38.927744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2349",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP2B4 as ready",
"entity_name": "ATP2B4",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:50:38.914751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2349",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2b4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP2B4",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:49:18.715310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2349",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP2B4 as Amber List (moderate evidence)",
"entity_name": "ATP2B4",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:49:18.703040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2349",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2b4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP2B4",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:46:13.520242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2348",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP2B4 was added\ngene: ATP2B4 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ATP2B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2B4 were set to 25119969; 25798335; 29691679\nPhenotypes for gene: ATP2B4 were set to Hereditary spastic paraplegia\nReview for gene: ATP2B4 was set to AMBER\nAdded comment: One Chinese family segregating a missense variant with HSP and one HSP case with a assumed de novo nonsense variant. Supporting in vitro functional assays for the missense variant. \nSources: Expert list",
"entity_name": "ATP2B4",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:32:37.981258+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ATP1A1",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:32:22.114819+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP1A1 was added\ngene: ATP1A1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A1 were set to 31705535\nPhenotypes for gene: ATP1A1 were set to Hereditary spastic paraplegia\nReview for gene: ATP1A1 was set to RED\nAdded comment: Sources: Literature",
"entity_name": "ATP1A1",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:25:06.850038+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive 615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:20:31.637979+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29726057; Phenotypes: Argininemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:15:15.286732+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AMPD2 as Red List (low evidence)",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:15:15.277660+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ampd2 has been classified as Red List (Low Evidence).",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:15:05.450575+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Spastic paraplegia 63 MIM#615686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:08:20.066319+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ALDH3A2 as ready",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:08:20.057432+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-04-19T18:08:11.571267+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528251, 29704247; Phenotypes: Sjogren-Larsson syndrome MIM#270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-04-19T17:37:50.998833+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.436",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GMPR as Red List (low evidence)",
"entity_name": "GMPR",
"entity_type": "gene"
},
{
"created": "2020-04-19T17:37:50.992435+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.436",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Insufficient evidence currently.",
"entity_name": "GMPR",
"entity_type": "gene"
},
{
"created": "2020-04-19T17:37:50.960980+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.436",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gmpr has been classified as Red List (Low Evidence).",
"entity_name": "GMPR",
"entity_type": "gene"
},
{
"created": "2020-04-19T17:36:07.607134+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.435",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GMPR was added\ngene: GMPR was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: GMPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GMPR were set to 31600844\nPhenotypes for gene: GMPR were set to progressive external ophthalmoplegia\nReview for gene: GMPR was set to AMBER\nAdded comment: A heterozygous missense was identified in a case with late-onset adPEO and multiple mtDNA deletions in the cases skeletal muscle. GMPR deficiency was confirmed, but marked defects of mtDNA replication or nucleotide homeostasis was not demonstrated in patient cells. No other functional assays conducted. \nSources: Literature",
"entity_name": "GMPR",
"entity_type": "gene"
},
{
"created": "2020-04-19T17:28:02.185326+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.112",
"user_name": "Tegan French",
"item_type": "entity",
"text": "gene: PRF1 was added\ngene: PRF1 was added to Hydrops fetalis. Sources: Other\nMode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRF1 were set to PMID: 19595804; 26199792; 30070073\nPhenotypes for gene: PRF1 were set to Aplastic anemia; Hemophagocytic lymphohistiocytosis, familial, 2 AR; Lymphoma, non-Hodgkin\nPenetrance for gene: PRF1 were set to Complete\nReview for gene: PRF1 was set to GREEN\nAdded comment: Heeg et al report 12 patients presenting with FHLH2 in utero or in first 10 days of life from registry and publication data (these 12 genetically confirmed)\r\nPMID: 19595804 \r\n\r\nVermulen et al report two siblings with homozygous PRF1 variants, first sib died in utero with hydrops and second sib presented in neonatal period\r\nPMID: 26199792 \r\n\r\nIwatani et al report newborn infant with comp het PRF1 variants, and in utero ascites\r\nPMID: 30070073 \nSources: Other",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-04-19T17:00:23.329736+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LSS as Green List (high evidence)",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-04-19T17:00:23.318128+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lss has been classified as Green List (High Evidence).",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-04-19T16:59:54.104204+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Three families reported with congenital cataracts with biallelic variants in LSS. \nSources: Literature; to: Three families reported with congenital cataracts with biallelic variants in LSS. Mouse model with cataracts.\r\nSources: Literature",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-04-19T16:59:22.437805+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LSS as ready",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-04-19T16:59:22.426063+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lss has been classified as Green List (High Evidence).",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-04-19T16:59:19.402856+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LSS as Green List (high evidence)",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-04-19T16:59:19.390746+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lss has been classified as Green List (High Evidence).",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-04-19T16:59:09.563581+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LSS was added\ngene: LSS was added to Ectodermal Dysplasia. Sources: Literature\nMode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSS were set to 30723320; 32101538\nPhenotypes for gene: LSS were set to Alopecia-mental retardation syndrome 4 MIM#618840; Hypotrichosis 14 MIM#618275\nReview for gene: LSS was set to GREEN\nAdded comment: Seven families with biallelic variants with a neuroectordermal syndrome, including alopecia. Mouse model has hypotrichosis cataracts. \nSources: Literature",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-04-19T16:47:48.685219+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LSS was added\ngene: LSS was added to Cataract. Sources: Literature\nMode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSS were set to 26200341; 29016354\nPhenotypes for gene: LSS were set to Cataract 44 MIM#616509\nReview for gene: LSS was set to GREEN\nAdded comment: Three families reported with congenital cataracts with biallelic variants in LSS. \nSources: Literature",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-04-19T16:30:34.212504+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2526",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CACNB4 as Amber List (moderate evidence)",
"entity_name": "CACNB4",
"entity_type": "gene"
},
{
"created": "2020-04-19T16:30:34.204162+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2526",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cacnb4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNB4",
"entity_type": "gene"
},
{
"created": "2020-04-19T16:29:53.677916+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2525",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CACNB4 was added\ngene: CACNB4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CACNB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNB4 were set to 32176688\nPhenotypes for gene: CACNB4 were set to intellectual disability; psychomotor retardation; blindness; epilepsy; movement disorder; cerebellar atrophy\nReview for gene: CACNB4 was set to AMBER\nAdded comment: A homozygous missense variant (Leu126Pro) was identified in two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy. In vitro functional assays of the variant identify three potential pathomechanisms: impairs the formation of synaptic P/Q-type calcium channel complexes; prevents activity-dependent nuclear targeting and thus β4-dependent nuclear functions; disturbs complex formation between β4b and the TRAF2 and NCK interacting kinase TNIK. \nSources: Literature",
"entity_name": "CACNB4",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:41:39.123778+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHCHD2 as ready",
"entity_name": "CHCHD2",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:41:39.111627+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chchd2 has been classified as Green List (High Evidence).",
"entity_name": "CHCHD2",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:40:21.753111+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDH3A as ready",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:40:21.740022+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh3a has been classified as Green List (High Evidence).",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:38:54.777011+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITRM1 as ready",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:38:54.762897+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitrm1 has been classified as Green List (High Evidence).",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:38:00.841331+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC22A5 as ready",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:38:00.831670+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc22a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:37:11.906104+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSUN3 as ready",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:37:11.893837+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsun3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:36:38.575126+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OXA1L as ready",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:36:38.561296+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxa1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:36:10.698727+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCD3 as ready",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:36:10.689683+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:35:39.876946+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A10 as ready",
"entity_name": "SLC25A10",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:35:39.867465+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A10",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:35:10.921005+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMMDC1 as ready",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:35:10.909260+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timmdc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:34:41.038016+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMM22 as ready",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:34:41.029230+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMM22",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:34:02.674047+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM65 as ready",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:34:02.660526+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem65 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:33:27.091177+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USMG5 as ready",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:33:27.082483+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usmg5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:32:53.667095+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CISD2 as ready",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:32:53.654496+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cisd2 has been classified as Green List (High Evidence).",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:32:49.496967+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CISD2 as Green List (high evidence)",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:32:49.483618+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cisd2 has been classified as Green List (High Evidence).",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:31:56.146056+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX5A as ready",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:31:56.137166+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox5a has been classified as Red List (Low Evidence).",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:31:25.722019+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF5A as ready",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:31:25.712986+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif5a has been classified as Red List (Low Evidence).",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:31:21.777266+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF5A as Red List (low evidence)",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:31:21.764820+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif5a has been classified as Red List (Low Evidence).",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:30:06.774544+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF5A as Amber List (moderate evidence)",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:30:06.765293+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:28:58.903439+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PET117 as ready",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:28:58.890298+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pet117 has been classified as Red List (Low Evidence).",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:28:32.985079+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCD1 as ready",
"entity_name": "PTCD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:28:32.975948+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcd1 has been classified as Red List (Low Evidence).",
"entity_name": "PTCD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:28:12.844612+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX4I1 as ready",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:28:12.831075+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox4i1 has been classified as Red List (Low Evidence).",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:28:09.164535+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX4I1 were set to 28766551",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:27:31.494004+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals.; to: Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals, i.e. heterozygous in each individual.",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2020-04-19T14:26:04.958350+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag mtDNA tag was added to gene: MT-TS2.",
"entity_name": "MT-TS2",
"entity_type": "gene"
}
]
}