HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1633",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1631",
"results": [
{
"created": "2020-08-28T13:08:31.296913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA13 were set to 25901006",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2020-08-28T13:08:11.910682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA13 as Amber List (moderate evidence)",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2020-08-28T13:08:11.902765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2020-08-28T13:07:55.493941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA13: Added comment: Second family reported with some supportive functional data.; Changed rating: AMBER; Changed publications: 25901006, 32722639",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2020-08-28T13:07:26.515192+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA13 as Amber List (moderate evidence)",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2020-08-28T13:07:26.504932+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2020-08-28T13:06:58.094129+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA13: Added comment: Second family reported with some supportive functional data.; Changed rating: AMBER; Changed publications: 25901006, 32722639",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2020-08-28T12:31:57.107749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3961",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KBTBD13: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28403181, 31167812, 31671076, 30208948; Phenotypes: Nemaline myopathy 6, autosomal dominant, 609273, Hereditary motor neuropathy, late-onset limb girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:51:16.489159+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: C9orf72 as Green List (high evidence)",
"entity_name": "C9orf72",
"entity_type": "str"
},
{
"created": "2020-08-28T09:51:16.480668+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: c9orf72 has been classified as Green List (High Evidence).",
"entity_name": "C9orf72",
"entity_type": "str"
},
{
"created": "2020-08-28T09:50:48.731941+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: C9orf72 was added\nSTR: C9orf72 was added to Early-onset Dementia. Sources: Expert list\nSTR tags were added to STR: C9orf72.\nMode of inheritance for STR: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: C9orf72 were set to 25577942\nPhenotypes for STR: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550\nReview for STR: C9orf72 was set to GREEN\nSTR: C9orf72 was marked as clinically relevant\nAdded comment: NG_031977.1:g.5321GGGGCC[X]\r\nRepeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation\r\nNormal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal\r\nPathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic\r\nNote: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units. \nSources: Expert list",
"entity_name": "C9orf72",
"entity_type": "str"
},
{
"created": "2020-08-28T09:48:14.780353+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA2 as ready",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:48:14.767016+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:48:11.289789+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:47:49.240592+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA2 were set to ",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:47:26.862619+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:46:59.443383+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:45:10.695316+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA2 as ready",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:45:10.686932+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:45:07.953823+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:44:41.280895+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA2 were set to ",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:44:21.828458+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:43:57.260677+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:43:00.925431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA2 as ready",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:43:00.906028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:42:54.249513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:42:34.975338+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA2 were set to ",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:42:17.370573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:42:00.284099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:26:35.641279+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA2 were changed from LAMA2-related muscular dystrophy to LAMA2-related muscular dystrophy; Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:25:57.690629+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:23:35.007042+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN2B as ready",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:23:34.992443+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2b has been classified as Green List (High Evidence).",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:23:28.948362+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN2B were changed from to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:23:01.732979+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN2B were set to ",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:22:38.104283+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:22:10.749743+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28377535; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970, Epileptic encephalopathy, early infantile, 27, MIM# 616139; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:21:31.843336+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN2B as ready",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:21:31.832104+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2b has been classified as Green List (High Evidence).",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:21:29.582822+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN2B were changed from to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:21:04.311701+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN2B were set to ",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:20:42.466198+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:20:17.651684+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28377535; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970, Epileptic encephalopathy, early infantile, 27, MIM# 616139; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:19:35.747854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN2B as ready",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:19:35.739359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2b has been classified as Green List (High Evidence).",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:19:28.770854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN2B were changed from to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:19:12.068108+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN2B were set to ",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:18:55.893636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:18:38.906989+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28377535; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970, Epileptic encephalopathy, early infantile, 27, MIM# 616139; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:18:29.107447+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN2B as ready",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:18:29.082935+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2b has been classified as Green List (High Evidence).",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:18:20.036272+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:18:04.884154+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN2B were changed from to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:17:30.071353+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN2B were set to ",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:16:48.698171+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:16:18.545752+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28377535; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970, Epileptic encephalopathy, early infantile, 27, MIM# 616139; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:09:33.456615+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN2B were changed from GRIN2B-related neurodevelopmental disorder to GRIN2B-related neurodevelopmental disorder; Mental retardation, autosomal dominant 6, MIM# 613970",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:09:01.498817+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:07:25.795832+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN1 as ready",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:07:25.787211+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin1 has been classified as Green List (High Evidence).",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:07:16.518076+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIN1 as Green List (high evidence)",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:07:16.507825+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin1 has been classified as Green List (High Evidence).",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:07:07.146666+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIN1 was added\ngene: GRIN1 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: GRIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GRIN1 were set to 29365063; 27164704; 27164704; 28051072\nPhenotypes for gene: GRIN1 were set to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820\nReview for gene: GRIN1 was set to GREEN\nAdded comment: Over 20 individuals reported with de novo missense variants in GRIN1 and severe neurodevelopmental phenotype, comprising ID, seizures, and a movement disorder, in particular dystonia. Two families reported with bi-allelic variants: different mechanism postulated (LOF vs affecting channel functioning or hypomorphic alleles), parents were carriers and unaffected. Movement disorder, in particular dystonia also reported in bi-allelic cases. \nSources: Expert list",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:04:47.339093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN1 as ready",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:04:47.328563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin1 has been classified as Green List (High Evidence).",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:04:40.823566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN1 were changed from to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:04:23.528690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN1 were set to ",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:04:06.993655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:03:51.479716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29365063, 27164704, 27164704, 28051072; Phenotypes: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:03:02.310587+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN1 as ready",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:03:02.302005+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin1 has been classified as Green List (High Evidence).",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:02:59.468485+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN1 were changed from to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:02:31.297539+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN1 were set to ",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:02:05.941831+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:01:37.831453+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29365063, 27164704; Phenotypes: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:00:14.592749+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN1 as ready",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:00:14.578260+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin1 has been classified as Green List (High Evidence).",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T09:00:04.373997+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN1 were changed from to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T08:59:35.962995+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN1 were set to ",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T08:59:10.168203+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T08:58:34.841294+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29365063, 27164704, 27164704, 28051072; Phenotypes: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T08:54:19.210545+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN1 as ready",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T08:54:19.205924+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: All variants occurred between residues 559 and 828, and there may be an association between variant location and PMG.",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T08:54:19.166657+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin1 has been classified as Green List (High Evidence).",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T08:50:11.035127+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN1 were changed from GRIN1-related neurodevelopmental disorder to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM#\t614254",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-08-28T05:57:21.911084+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HARS were set to 32296180",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-08-28T05:56:49.106207+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: HARS: Please note this is the correct PMID for this disease association",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-08-28T05:56:26.532696+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 32333447; Phenotypes: multisystem ataxic syndrome, mild-severe intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-08-28T05:55:55.202675+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HARS were set to 32296180",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-08-28T05:55:34.335013+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 32333447; Phenotypes: multisystem ataxic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:57.341810+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF674 was added\ngene: ZNF674 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZNF674 were set to Mental retardation",
"entity_name": "ZNF674",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:56.829849+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF252P was added\ngene: ZNF252P was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ZNF252P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZNF252P were set to Hypothyroidism",
"entity_name": "ZNF252P",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:56.030372+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFPM2 was added\ngene: ZFPM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZFPM2 were set to Tetralogy of Fallot",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:55.441635+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YARS2 was added\ngene: YARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:54.642558+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WRAP53 was added\ngene: WRAP53 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRAP53 were set to Dyskeratosis congenita",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:54.123115+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT7A was added\ngene: WNT7A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT7A were set to Ulna and fibula absence of with severe limb deficiency",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:53.325133+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT5A was added\ngene: WNT5A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WNT5A were set to Robinow syndrome",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:52.738351+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT3 was added\ngene: WNT3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT3 were set to Tetra-amelia, autosomal recessive",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:51.941648+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNK1 was added\ngene: WNK1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type I",
"entity_name": "WNK1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:51.426134+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR36 was added\ngene: WDR36 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WDR36 were set to Glaucoma",
"entity_name": "WDR36",
"entity_type": "gene"
}
]
}