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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=871",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=869",
"results": [
{
"created": "2022-04-26T15:05:28.195684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13322",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CLCNKB were changed from to Bartter syndrome, type 3, MIM# 607364; Bartter syndrome, type 4b, digenic, MIM# 613090",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:05:23.205139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13322",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CLCNKB were set to ",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:05:14.975293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13321",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:05:14.044308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13321",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCNKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:04:54.554494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13320",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326936, 15044642, 18310267; Phenotypes: Bartter syndrome, type 3, MIM# 607364, Bartter syndrome, type 4b, digenic, MIM# 613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:03:56.854230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13320",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLCF1 as ready",
"entity_name": "CLCF1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:03:56.842860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13320",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: clcf1 has been classified as Green List (High Evidence).",
"entity_name": "CLCF1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:03:18.913994+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13320",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CLCF1 were changed from to Cold-induced sweating syndrome 2 MIM#610313",
"entity_name": "CLCF1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:03:10.545866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13319",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CLCF1 were set to ",
"entity_name": "CLCF1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:03:07.188939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13319",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLCF1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:02:50.715154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13318",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: CLCF1: Changed rating: GREEN",
"entity_name": "CLCF1",
"entity_type": "gene"
},
{
"created": "2022-04-26T15:02:38.625726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13318",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CLCF1: Rating: ; Mode of pathogenicity: None; Publications: 16782820, 20400119, 21370513; Phenotypes: Cold-induced sweating syndrome 2 MIM#610313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CLCF1",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:24:15.902255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13318",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:18:30.141850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13318",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PER2: Rating: RED; Mode of pathogenicity: None; Publications: 33474825, 31527662, 11232563, 10408444, 11395012, 11232563; Phenotypes: ?Advanced sleep phase syndrome, familial, 1 - MIM#604348; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PER2",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:13:45.867083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13318",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CIT as ready",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:13:45.856522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13318",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cit has been classified as Green List (High Evidence).",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:13:35.878433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13318",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CIT were set to 27453578; 27503289; 27453579",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:13:30.732901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13317",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CIT were changed from Microcephaly 17, primary, autosomal recessive (MIM#617090) to Microcephaly 17, primary, autosomal recessive (MIM#617090)",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:13:21.212252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13317",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CIT were changed from to Microcephaly 17, primary, autosomal recessive (MIM#617090)",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:13:19.961536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13316",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CIT were set to ",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:13:12.069989+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13316",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:12:56.662642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13315",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453578, 27503289, 27453579; Phenotypes: Microcephaly 17, primary, autosomal recessive (MIM#617090); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:12:05.866318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13315",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CISH as ready",
"entity_name": "CISH",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:12:05.849768+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13315",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cish has been classified as Red List (Low Evidence).",
"entity_name": "CISH",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:11:36.869836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13315",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CISH as Red List (low evidence)",
"entity_name": "CISH",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:11:36.859276+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13315",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cish has been classified as Red List (Low Evidence).",
"entity_name": "CISH",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:11:20.873414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13314",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CISH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CISH",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:04:54.491142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13314",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDZD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20440071, 19028668, 26416264, 26849169, 27068579, 26445815, 28173822l, 24334608; Phenotypes: Deafness, autosomal recessive 57, MIM# 618003, Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:03:38.082840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13314",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CISD2 as ready",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:03:38.071712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13314",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cisd2 has been classified as Green List (High Evidence).",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:03:21.298812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13314",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CISD2 were set to ",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:03:18.391607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13315",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2 MIM#604928",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:03:09.158713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13314",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:02:40.304800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13313",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29237418, 28335035, 27459537, 26230298, 17846994; Phenotypes: Wolfram syndrome 2 MIM#604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:01:34.239749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13313",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CILP as ready",
"entity_name": "CILP",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:01:34.229746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13313",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cilp has been classified as Red List (Low Evidence).",
"entity_name": "CILP",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:01:19.823615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13313",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CILP as Red List (low evidence)",
"entity_name": "CILP",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:01:19.809634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13313",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cilp has been classified as Red List (Low Evidence).",
"entity_name": "CILP",
"entity_type": "gene"
},
{
"created": "2022-04-26T14:01:03.440331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13312",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CILP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CILP",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:59:39.984938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13312",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301317, 23471613, 23108490, 22243190, 22287014; Phenotypes: Spinocerebellar ataxia 23 - MIM#610245; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDYN",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:59:38.328204+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CIC as ready",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:59:38.314448+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cic has been classified as Green List (High Evidence).",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:59:06.337918+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CIC were changed from to Intellectual developmental disorder, autosomal dominant 45 MIM#617600",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:58:46.442473+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CIC were set to ",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:58:26.166824+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4695",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:58:02.553132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13312",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CIC as ready",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:58:02.541435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13312",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cic has been classified as Green List (High Evidence).",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:57:45.330732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13312",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CIC were changed from to Intellectual developmental disorder, autosomal dominant 45 MIM#617600",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:57:35.278445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13311",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CIC were set to ",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:57:25.591707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13311",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:53:47.581083+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4694",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28288114, 21076407; Phenotypes: Intellectual developmental disorder, autosomal dominant 45 MIM#617600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:53:26.587648+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13310",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28288114, 21076407; Phenotypes: Intellectual developmental disorder, autosomal dominant 45 MIM#617600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CIC",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:51:22.688998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13310",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CHST14 as ready",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:51:22.678342+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13310",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: chst14 has been classified as Green List (High Evidence).",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:51:14.235200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13310",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:51:04.564860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13309",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CHST14 were set to ",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:50:51.852983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13309",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:50:27.087311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13308",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 25703627, 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:49:36.154813+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1567",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CHRNA2 were set to 16826524; 25770198; 30809122; 25847220",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:49:07.176911+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1567",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA2 were changed from Epilepsy, nocturnal frontal lobe, type 4 MIM#610353 to Epilepsy, nocturnal frontal lobe, type 4 MIM#610353",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:48:38.828046+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1566",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA2 were changed from to Epilepsy, nocturnal frontal lobe, type 4 MIM#610353",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:48:12.118532+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1566",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CHRNA2 were set to ",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:47:50.999052+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1566",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CHRNA2 as ready",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:47:50.975817+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1566",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: chrna2 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:47:41.747210+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1566",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:46:59.507920+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1565",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CHRNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826524, 25770198, 30809122, 25847220; Phenotypes: Epilepsy, nocturnal frontal lobe, type 4 MIM#610353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:46:57.049498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13308",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CHRNA2 as ready",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:46:57.037182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13308",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: chrna2 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:46:51.470621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13308",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA2 were changed from to Epilepsy, nocturnal frontal lobe, type 4 MIM#610353",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:46:43.693352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13307",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CHRNA2 were set to ",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:46:33.082996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13307",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:46:14.652547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13306",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CHRNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826524, 25770198, 30809122, 25847220; Phenotypes: Epilepsy, nocturnal frontal lobe, type 4 MIM#610353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:37:45.679806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13306",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CHRM2 as ready",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:37:45.667187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13306",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: chrm2 has been classified as Red List (Low Evidence).",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:37:39.279332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13306",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CHRM2 were changed from to Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:37:33.917654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13305",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:37:28.575224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13305",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CHRM2 were set to ",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:37:23.909498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13305",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CHRM2 as Red List (low evidence)",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:37:23.897811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13305",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: chrm2 has been classified as Red List (Low Evidence).",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:36:56.648908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13304",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CHRM2: Rating: RED; Mode of pathogenicity: None; Publications: 23743182, 18451336; Phenotypes: Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:30:06.767113+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13304",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CHN1 as ready",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:30:06.751359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13304",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: chn1 has been classified as Green List (High Evidence).",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:29:42.280709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13304",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CHN1 were set to 20301369",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:29:21.993312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13303",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CHN1 were changed from to Duane retraction syndrome 2,MIM#604356",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:29:17.664107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13303",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CHN1 were set to ",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:29:00.556498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13302",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CHN1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:28:52.331559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13302",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:28:35.819386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13301",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Established association.\r\n\r\nGoF is the mechanism; to: Established association.\r\nFrom Genereviews:\r\nGoF is the mechanism",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:28:15.210397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13301",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CHN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 20301369; Phenotypes: Duane retraction syndrome 2,MIM#604356; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:23:40.303783+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13301",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CHMP4B as ready",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:23:40.286980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13301",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: chmp4b has been classified as Green List (High Evidence).",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:23:06.885565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13301",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CHMP4B were changed from to Cataract 31, multiple types MIM#605387",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:22:59.667200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13300",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CHMP4B were set to ",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:22:48.575327+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13300",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHMP4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:22:31.317321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13299",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CHMP4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 34722561, 17701905, 10682967, 30078984; Phenotypes: Cataract 31, multiple types MIM#605387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CHMP4B",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:17:56.974181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13299",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CHM as ready",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:17:56.963300+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13299",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: chm has been classified as Green List (High Evidence).",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:17:43.469923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13299",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CHM were set to ",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:17:35.618726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13299",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CHM were changed from to Choroideremia MIM#303100",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:17:34.467144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13299",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHM was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CHM",
"entity_type": "gene"
}
]
}