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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=862",
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"results": [
{
"created": "2022-05-04T09:47:39.666332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13656",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: COL1A2: Changed phenotypes: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120, Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821, Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320, Osteogenesis imperfecta, type II, MIM# 166210, Osteogenesis imperfecta, type III, MIM# 259420, Osteogenesis imperfecta, type IV, MIM# 166220",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:47:32.300572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13656",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL1A2 as ready",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:47:32.289347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13656",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col1a2 has been classified as Green List (High Evidence).",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:47:19.061611+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13656",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL1A2 were changed from to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:47:04.211617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13655",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL1A2 were set to ",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:46:51.664360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13654",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:45:47.414312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13653",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 32091183, 2993307, 30821104; Phenotypes: Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821, Ehlers-Danlos syndrome, cardiac valvular type MIM#225320; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:42:55.959870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13653",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667)\r\n\r\nThe mild forms are usually caused by haploinsufficiency and result in a reduced amount of normal type I collagen, the severe and lethal forms result from dominant negative variants which produce structural defects in the collagen molecule (PMID:12362985).; to: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667)\r\n\r\nFor skeletal phenotypes:\r\nThe mild forms are usually caused by haploinsufficiency and result in a reduced amount of normal type I collagen, the severe and lethal forms result from dominant negative variants which produce structural defects in the collagen molecule (PMID:12362985).",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:42:43.581689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13653",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667); to: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667)\r\n\r\nThe mild forms are usually caused by haploinsufficiency and result in a reduced amount of normal type I collagen, the severe and lethal forms result from dominant negative variants which produce structural defects in the collagen molecule (PMID:12362985).",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:42:34.743898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13653",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL1A1 as ready",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:42:34.731515+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13653",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col1a1 has been classified as Green List (High Evidence).",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:42:25.666382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13653",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL1A1 were set to ",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:42:17.727220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13653",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL1A1 were changed from to Caffey disease MIM#114000; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MIM#619115; Ehlers-Danlos syndrome, arthrochalasia type, 1 MIM#130060; Osteogenesis imperfecta, type I MIM#166200; Osteogenesis imperfecta, type II MIM#166210; Osteogenesis imperfecta, type III MIM#259420; Osteogenesis imperfecta, type IV MIM#166220",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:42:15.583278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13653",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:41:45.990028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13652",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301422, 20301667, 30071989, 28981071, 12362985, 28956891; Phenotypes: Caffey disease MIM#114000, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MIM#619115, Ehlers-Danlos syndrome, arthrochalasia type, 1 MIM#130060, Osteogenesis imperfecta, type I MIM#166200, Osteogenesis imperfecta, type II MIM#166210, Osteogenesis imperfecta, type III MIM#259420, Osteogenesis imperfecta, type IV MIM#166220; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:31:07.462936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13652",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL18A1 as ready",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:31:07.442217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13652",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col18a1 has been classified as Green List (High Evidence).",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:30:57.595103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13652",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM# 267750",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:30:51.981354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13651",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL18A1 were set to ",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:30:33.961720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13651",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:30:32.095665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13651",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:30:16.238748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13650",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259167, 25456301; Phenotypes: Knobloch syndrome, type 1, MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:28:46.498875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13650",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL17A1 as ready",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:28:46.481983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13650",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col17a1 has been classified as Green List (High Evidence).",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:28:43.079163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13650",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL17A1 were set to ",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:28:35.485501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13650",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL17A1 were changed from to Epidermolysis bullosa, junctional 4, intermediate MIM#619787; Epithelial recurrent erosion dystrophy MIM#122400",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:28:32.568454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13650",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL17A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:28:08.275223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "commented on gene: COL17A1: For Epithelial recurrent erosion dystrophy, AD:\r\nMultiple families reported, c.3156C>T is recurrent.\r\n\r\nFor EB, AR:\r\nwell established association (GeneReviews PMID:20301304)",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:28:07.283541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27309958, 29708937, 25676728, 20301304; Phenotypes: Epidermolysis bullosa, junctional 4, intermediate MIM#619787, Epithelial recurrent erosion dystrophy MIM#122400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:22:13.308881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL12A1 as ready",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:22:13.297735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col12a1 has been classified as Green List (High Evidence).",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:22:08.605662+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL12A1 were set to 28306229; 31273343; 24334604",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:22:04.387592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13648",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL12A1 were set to ",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:21:54.328486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13648",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL12A1 were changed from to Myopathic EDS; Bethlem myopathy 2 MIM#616471; Ullrich congenital muscular dystrophy 2 MIM#616470",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:21:53.961983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13648",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL12A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:21:22.760088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13647",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 31273343, 24334604; Phenotypes: Myopathic EDS, Bethlem myopathy 2 MIM#616471, Ullrich congenital muscular dystrophy 2 MIM#616470; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL12A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:19:58.071160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13647",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL11A2 as ready",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:19:58.058064+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13647",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col11a2 has been classified as Green List (High Evidence).",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:19:35.483077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13647",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A2 were changed from to Stickler syndrome type 3; Deafness, autosomal dominant 13 MIM#601868; Deafness, autosomal recessive 53 MIM#609706; Fibrochondrogenesis 2 MIM#614524; Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:19:30.434566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13646",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL11A2 were set to ",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:19:23.560288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13646",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL11A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:19:04.305218+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13645",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581026, 25633957, 16033917, 25240749, 22796475, 20112039; Phenotypes: Stickler syndrome type 3, Deafness, autosomal dominant 13 MIM#601868, Deafness, autosomal recessive 53 MIM#609706, Fibrochondrogenesis 2 MIM#614524, Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840, Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:13:41.741228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13645",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COG7 as ready",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:13:41.727525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13645",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cog7 has been classified as Green List (High Evidence).",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:13:24.195242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13645",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:13:16.177489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13644",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COG7 were set to ",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:13:12.168949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13644",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:12:34.956068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13643",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15107842, 17356545, 28883096; Phenotypes: Congenital disorder of glycosylation, type IIe , MIM#608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:05:56.323437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13643",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COASY as ready",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:05:56.311187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13643",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: coasy has been classified as Green List (High Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:05:42.171413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13643",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COASY were set to ",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:05:42.143403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13643",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COASY were changed from to Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#v618266",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:05:21.437323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13643",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COASY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:04:54.374187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13642",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Green for both NBIA and PCH; to: Green for both NBIA and PCH\r\n\r\nonly 2 variants reported for PCH - a fs (c.1549_1550delAG) and c.1486-3C>G (Recurrent)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:03:54.321142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13642",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089828, 28489334, 24360804, 35499143; Phenotypes: Neurodegeneration with brain iron accumulation 6 MIM#615643, Pontocerebellar hypoplasia, type 12 MIM#v618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:03:36.681808+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.24",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COASY were set to 30089828",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:03:28.216705+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.23",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: COASY as Green List (high evidence)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:03:28.205039+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.23",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: coasy has been classified as Green List (High Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:03:19.028630+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.22",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: COASY: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:03:11.623728+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.22",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COASY: Rating: ; Mode of pathogenicity: None; Publications: 35499143; Phenotypes: Pontocerebellar hypoplasia, type 12, MIM#618266; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:02:03.877041+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.341",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 5 more families with arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers.\r\n\r\n\r\nc.1486-3C>G is the variant identified in all families; to: 5 more families with PCH and arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers.\r\n\r\n\r\nc.1486-3C>G is the variant identified in all families",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:01:05.897980+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.341",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COASY were set to 30089828",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:00:44.674286+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.341",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: COASY as Green List (high evidence)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:00:44.663304+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.341",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: coasy has been classified as Green List (High Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:00:14.423209+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.340",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 5 more families. But 1 family did not have the affecteds sequenced, presumed homozygous as parents are carriers.\r\n\r\narthrogryposis reported in 4 families\r\n\r\nc.1486-3C>G is the variant identified in all families; to: 5 more families with arthrogryposis reported in 4x. But 1x family did not have the affecteds sequenced, presumed homozygous as parents are carriers.\r\n\r\n\r\nc.1486-3C>G is the variant identified in all families",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:59:44.655513+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.340",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 35499143; Phenotypes: Pontocerebellar hypoplasia, type 12 MIM#618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:55:58.394314+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COASY were set to PMID: 30089828; 27021474; 24360804",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:55:35.939393+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: COASY as Green List (high evidence)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:55:35.926569+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: coasy has been classified as Green List (High Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:54:37.358082+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.47",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 35499143; Phenotypes: Pontocerebellar hypoplasia, type 12 MIM#618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:35:36.092364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMBS as ready",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:35:36.077390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Green List (High Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:35:23.489722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMBS were changed from to Porphyria, acute intermittent, MIM#176000; Porphyria, acute intermittent, non-erythroid variant, MIM#176000",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:35:02.900259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMBS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:34:42.796581+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, acute intermittent, MIM#176000, Porphyria, acute intermittent, non-erythroid variant, MIM#176000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:33:08.106957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HK1 as ready",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:33:08.090744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Green List (High Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:32:59.156235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HK1 were changed from to Neuropathy, hereditary motor and sensory, Russe type , MIM#605285; Haemolytic anaemia due to hexokinase deficiency, MIM# 235700; Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547; Retinitis pigmentosa 79, MIM# 617460",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:32:38.760120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HK1 were set to ",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:32:15.655598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:31:54.789671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy.\r\n\r\nFounder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.\r\n\r\nNote gene is associated with other phenotypes.; to: Bi-allelic variants and neuropathy: HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy.\r\n\r\nFounder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.\r\n\r\nNote gene is associated with other phenotypes.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:31:34.108627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HK1: Added comment: Mono-allelic variants and ID: PMID30778173, 7 patients from 6 unrelated families with denovo missense variants in the N-terminal half of HK1 \r\n\r\nMono-allelic variants and RP: Seven families reported with the same heterozygous missense variant, p.Glu847Lys and RP from different ethnicities. Some supportive evidence. Variant is present in 3 hets in gnomad.\r\n\r\nBi-allelic variants and haemolytic anaemia: more than 10 families reported.; Changed publications: 19536174, 30778173, 25316723, 25190649, 31621442, 32814480, 7655856, 12393545, 33361148, 31119733, 27282571; Changed phenotypes: Neuropathy, hereditary motor and sensory, Russe type , MIM#605285, Haemolytic anaemia due to hexokinase deficiency, MIM# 235700, Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547, Retinitis pigmentosa 79, MIM# 617460; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:21:46.064240+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI1 were changed from Intellectual disability; seizures; hypotonia to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:21:09.405239+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNAI1: Changed phenotypes: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:20:50.569315+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI1 were changed from Intellectual disability; seizures; hypotonia to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:20:08.776699+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNAI1: Changed phenotypes: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:19:49.248842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI1 were changed from Intellectual disability; seizures; hypotonia to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-05-04T08:19:25.292286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNAI1: Changed phenotypes: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:56:01.138473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPE65 as ready",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:56:01.123990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpe65 has been classified as Green List (High Evidence).",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:52:25.762532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPE65 were changed from to Leber congenital amaurosis 2 MIM#204100; Retinitis pigmentosa 20 MIM#613794; Retinitis pigmentosa 87 with choroidal involvement MIM#618697",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:52:04.411165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPE65 were set to ",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:51:43.573528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPE65 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:50:46.907206+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRAS as ready",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:50:46.894281+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rras has been classified as Red List (Low Evidence).",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:50:37.058046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC24A1 as ready",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:50:37.047139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc24a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:50:28.966083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC24A1 were changed from to Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM#613830, MONDO:0013450",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:50:08.369396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC24A1 were set to ",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:49:46.717018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC24A1",
"entity_type": "gene"
}
]
}