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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1653",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1651",
"results": [
{
"created": "2020-08-27T18:08:31.908542+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only reported cause of disease is a hexanucleotide repeat (GGGGCC) located between the noncoding exons 1a and 1b. RNA toxicity or proteotoxicity is the expected mechanism of disease.",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-08-27T18:08:31.873666+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c9orf72 has been classified as Green List (High Evidence).",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-08-27T16:12:41.310140+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HDL2 as Green List (high evidence)",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2020-08-27T16:12:41.299740+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hdl2 has been classified as Green List (High Evidence).",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2020-08-27T16:08:17.839330+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HDL2 was added\nSTR: HDL2 was added to Early-onset Dementia. Sources: Expert list\nSTR tags were added to STR: HDL2.\nMode of inheritance for STR: HDL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HDL2 were set to 20301701\nPhenotypes for STR: HDL2 were set to Huntington disease-like 2 MIM#606438\nReview for STR: HDL2 was set to GREEN\nSTR: HDL2 was marked as clinically relevant\nAdded comment: NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]\r\nIn an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein\r\nNormal: ≤28 repeats\r\nQuestionable significance: 29-39 repeats, mutable normal or reduced penetrance included\r\nFull penetrance: ≥40 repeats \nSources: Expert list",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2020-08-27T14:50:28.856028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCLAF1 as ready",
"entity_name": "BCLAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T14:50:28.845236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bclaf1 has been classified as Red List (Low Evidence).",
"entity_name": "BCLAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T14:50:16.885790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCLAF1 as Red List (low evidence)",
"entity_name": "BCLAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T14:50:16.876312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bclaf1 has been classified as Red List (Low Evidence).",
"entity_name": "BCLAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T14:14:02.372652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3951",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: BCLAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BCLAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:36:53.222406+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.204",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: MYO9A as ready",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:36:53.211371+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.204",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Green List (High Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:36:50.503304+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.204",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MYO9A as Green List (high evidence)",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:36:50.494510+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.204",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Green List (High Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:36:17.891217+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.203",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: MYO9A was added\ngene: MYO9A was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO9A were set to 26752647; 27259756\nPhenotypes for gene: MYO9A were set to MYASTHENIC SYNDROME, CONGENITAL, 24 OMIM# 618198\nReview for gene: MYO9A was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:42:54.543432+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": "Marked gene: ALG12 as ready",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:42:54.531593+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": "Gene: alg12 has been classified as Green List (High Evidence).",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:42:50.933504+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": "Phenotypes for gene: ALG12 were changed from to Congenital disorder of glycosylation, type Ig, MIM# 607143",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:42:20.688974+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG12 were set to ",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:41:55.326984+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:41:28.462612+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31481313; Phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:40:50.257951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG12 as ready",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:40:50.249264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg12 has been classified as Green List (High Evidence).",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:40:43.486728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG12 were changed from to Congenital disorder of glycosylation, type Ig, MIM# 607143",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:04:19.604408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC61A1 as ready",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:04:19.594042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec61a1 has been classified as Green List (High Evidence).",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:04:09.927116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC61A1 were changed from to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:03:52.639882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC61A1 were set to ",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:03:32.166726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEC61A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T08:03:14.023496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392076, 32325141, 28782633; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Hypogammaglobulinaemia, Neutropaenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:56:09.239948+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC61A1 as ready",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:56:09.229836+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec61a1 has been classified as Green List (High Evidence).",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:56:03.148976+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC61A1 were changed from to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:55:41.108113+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC61A1 were set to ",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:54:10.786515+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEC61A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:47:20.443241+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392076; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Mode of inheritance: None",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:44:48.172757+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG12 were set to ",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:43:43.649096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:43:19.728758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31481313; Phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:41:40.046950+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG12 as ready",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:41:40.036524+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg12 has been classified as Green List (High Evidence).",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:41:37.914684+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG12 were changed from to Congenital disorder of glycosylation, type Ig\t607143",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:39:55.174590+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG12 were set to ",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:39:29.072693+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:37:28.673916+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG11 as ready",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:37:28.661385+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg11 has been classified as Green List (High Evidence).",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:37:24.182338+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM# 613661",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:35:59.899781+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG11 were set to ",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:35:32.694702+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two individuals with mono-allelic variants reported with polycystic kidney disease, and ALG9 LOF variants over-represented in a population-based cohort. However, penetrance and expressivity seem variable, and also it is unclear whether parents of children affected by the AR CDG have renal cysts. Bi-allelic variants cause CDG: kidney cysts reported as part of phenotype but note this is generally a severe multi-system disorder. \nSources: Literature; to: Two individuals with mono-allelic variants reported with polycystic kidney disease, and ALG9 LOF variants over-represented in a population-based cohort. However, penetrance and expressivity seem variable, and also it is unclear whether parents of children affected by the AR CDG have renal cysts. Bi-allelic variants cause CDG: kidney cysts reported as part of phenotype but note this is generally a severe multi-system disorder. It is unclear at present whether the mechanism is the same for both. It may be that bi-allelic LOF is perinatal lethal, hence CDG carriers for missense variants are less likely to manifest renal cysts.\r\nSources: Literature",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:33:43.477776+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:33:10.228404+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30676690; Phenotypes: Congenital disorder of glycosylation, type Ip, MIM# 613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:30:42.132685+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG11 as ready",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:30:42.121538+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg11 has been classified as Green List (High Evidence).",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:30:39.235244+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM# 613661",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:30:11.275873+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG11 were set to ",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:29:43.485397+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:29:18.831020+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30676690; Phenotypes: Congenital disorder of glycosylation, type Ip, MIM# 613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:28:24.243890+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG11 as ready",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:28:24.233223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg11 has been classified as Green List (High Evidence).",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:28:07.554727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM# 613661",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:27:01.302637+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG9: Added comment: Additional individual reported in PMID 30676690 as part of a large cohort.; Changed publications: 31395617, 32398770; Changed phenotypes: Congenital disorder of glycosylation, type Il, MIM# 608776, Gillessen-Kaesbach-Nishimura syndrome, MIM#263210, Polycystic kidney disease",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:25:41.290459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG11 were set to ",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:25:21.512381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:24:28.079878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30676690; Phenotypes: Congenital disorder of glycosylation, type Ip, MIM# 613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:21:44.819091+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG11 as ready",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:21:44.808178+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg11 has been classified as Green List (High Evidence).",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:21:42.345441+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM#\t613661",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:21:14.310596+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG11 were set to ",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T07:20:52.741816+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-08-27T06:28:03.467722+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG1 as ready",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T06:28:03.456970+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg1 has been classified as Green List (High Evidence).",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T06:28:00.530558+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik\t608540",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T06:27:25.738159+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG1 were set to ",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T06:27:03.158088+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:57:03.835769+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KATNB1 as ready",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:57:03.825987+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnb1 has been classified as Green List (High Evidence).",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:56:36.790367+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP2 as ready",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:56:36.780281+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:55:40.153109+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: L1CAM as ready",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:55:40.143029+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Amber List (Moderate Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:55:37.441571+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from to L1CAM-related disease",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:55:12.060402+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: L1CAM were set to ",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:54:38.389226+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:54:16.810082+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: L1CAM as Amber List (moderate evidence)",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:54:16.801754+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Amber List (Moderate Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:53:12.276197+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP2 as ready",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:53:12.267922+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:53:09.895121+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2 614225",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:52:44.024289+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP2 were set to ",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:52:20.954663+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:51:28.959023+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA8 as ready",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:51:28.950747+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:51:02.191905+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX16 as ready",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:51:02.181847+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:50:58.770092+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX16 as Amber List (moderate evidence)",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:50:58.762234+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:50:32.833968+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX14 as ready",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:50:32.825895+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:50:25.876132+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX14 as Amber List (moderate evidence)",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2020-08-26T21:50:25.866189+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX14",
"entity_type": "gene"
}
]
}