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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=941",
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"results": [
{
"created": "2022-03-14T16:07:22.559938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27144394, 8696334, 9507389, 9683615, 18657636; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-03-14T15:19:03.488467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ECHS1 were changed from to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277; Leigh syndrome MONDO:0009723; cerebral palsy MONDO:0006497; paroxysmal dystonia MONDO:0016058",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-14T15:16:10.414799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11306",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ECHS1 were set to ",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-14T15:07:55.368798+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.711",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ECHS1 as ready",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-14T15:07:55.354171+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.711",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: echs1 has been classified as Green List (High Evidence).",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-14T15:07:23.421860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ECHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-14T15:06:51.840210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 34364746, 32858208, 31399326, 25125611, 25393721, 32677093; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277, Leigh syndrome MONDO:0009723, cerebral palsy MONDO:0006497, paroxysmal dystonia MONDO:0016058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-14T14:38:01.320883+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.711",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ECHS1 were changed from to Leigh syndrome MONDO:0009723",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-14T14:37:09.997411+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.710",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ECHS1 were set to ",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-14T14:36:10.068266+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.709",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ECHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-14T14:35:28.004579+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.708",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000322, 25393721, 25125611, 28409271, 29575569, 28755360, 26099313; Phenotypes: Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:22:28.114569+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4554",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP35 were changed from neurodevelopmental disorder, ARHGAP35-related MONDO#0700092 to neurodevelopmental disorder, ARHGAP35-related MONDO#0700092",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:22:03.276036+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4553",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP35 were changed from neurodevelopmental disorder, ARHGAP35-related MONDO#0700092 to neurodevelopmental disorder, ARHGAP35-related MONDO#0700092",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:21:40.570971+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4552",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP35 were changed from neurodevelopmental disorder, ARHGAP35-related MONDO#0700092 to neurodevelopmental disorder, ARHGAP35-related MONDO#0700092",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:21:13.401674+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4552",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP35 were changed from Developmental disorder to neurodevelopmental disorder, ARHGAP35-related MONDO#0700092",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:20:46.536247+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4551",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: ARHGAP35 as Green List (high evidence)",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:20:46.512377+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4551",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: arhgap35 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:20:20.603426+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4551",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: ARHGAP35 as Green List (high evidence)",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:20:20.590466+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4551",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: arhgap35 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:19:49.459756+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4550",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder, ARHGAP35-related MONDO#0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:05:10.724476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11304",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP35 were changed from Developmental disorder to neurodevelopmental disorder, ARHGAP35-related MONDO#0700092",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:04:02.754795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11303",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: ARHGAP35 as Green List (high evidence)",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:04:02.742886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11303",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: arhgap35 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:03:55.516331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11302",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: ARHGAP35 as Green List (high evidence)",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:03:55.505173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11302",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: arhgap35 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T16:03:36.661550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11301",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder, ARHGAP35-related MONDO#0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:40:59.721769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNV2 as ready",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:40:59.698607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnv2 has been classified as Green List (High Evidence).",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:40:52.029886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNV2 were changed from to Retinal cone dystrophy 3B, MIM# 610356",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:40:32.837336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNV2 were set to ",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:40:17.486942+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNV2 as ready",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:40:17.478117+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnv2 has been classified as Green List (High Evidence).",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:40:15.289835+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNV2 were set to 30679166",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:40:09.467236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:39:50.794255+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909397, 18235024, 21882291; Phenotypes: Retinal cone dystrophy 3B, MIM# 610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:39:17.673279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909397, 18235024, 21882291; Phenotypes: Retinal cone dystrophy 3B, MIM# 610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:36:21.523590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KHDC3L as ready",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:36:21.509347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: khdc3l has been classified as Green List (High Evidence).",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:36:13.701876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KHDC3L were changed from to Hydatiform mold recurrent 2, MIM#614293",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:35:51.474415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KHDC3L were set to ",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:35:32.013108+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KHDC3L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:35:11.776134+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KHDC3L: Rating: GREEN; Mode of pathogenicity: None; Publications: 23232697, 31847873, 23125094, 21885028; Phenotypes: Hydatiform mold recurrent 2 MIM#614293; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:33:09.977256+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome, MIM# 617822 to Alkuraya-Kucinskas syndrome, MIM# 617822",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:32:55.208430+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1109 as ready",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:32:55.196955+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1109 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:32:45.143985+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1109 as ready",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:32:45.128434+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1109 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:32:44.521437+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome, MIM# 617822 to Alkuraya-Kucinskas syndrome, MIM# 617822",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:32:44.103310+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA1109 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:32:22.386017+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:32:15.223176+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome, MIM# 617822",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:31:34.123020+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA1109 were set to ",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:30:50.878834+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA1109 were set to ",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:30:20.516785+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:29:57.745568+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome, MIM# 617822",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:29:42.744091+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome, MIM# 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:28:43.676529+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome, MIM# 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:27:45.232030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures.; to: ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures.\r\n\r\nMore than 10 families reported.",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:27:26.029805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1109 as ready",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:27:26.019236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1109 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:27:17.470563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome, MIM# 617822",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:26:44.445676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA1109 were set to ",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:25:34.148592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:25:14.752908+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alkuraya-Kucinskas syndrome, MIM# 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:23:44.486518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1A as ready",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:23:44.473189+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1a has been classified as Green List (High Evidence).",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:23:36.383883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1A were changed from to Neuropathy, hereditary sensory, type IIC, MIM# 614213; NESCAV syndrome, MIM# 614255; Spastic paraplegia 30, MIM# 610357",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:23:11.926981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1A were set to ",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:22:50.068181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:22:29.901275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF1A: Changed phenotypes: Neuropathy, hereditary sensory, type IIC, MIM# 614213, NESCAV syndrome, MIM# 614255, Spastic paraplegia 30, MIM# 610357; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:20:51.484773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF5A as ready",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:20:51.473823+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif5a has been classified as Green List (High Evidence).",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:20:42.686576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF5A were changed from to Neuropathy; Spastic paraplegia 10, autosomal dominant, MIM# 604187; Myoclonus, intractable, neonatal, MIM# 617235",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:20:23.194845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF5A were set to ",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:20:02.522295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:19:39.883615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF5A: Added comment: Neonatal intractable myoclonus is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. At least 3 unrelated individuals with de novo LoF variants.\r\n\r\nSPG10/CMT: variants are generally in the motor domain.; Changed publications: 30057544, 29892902, 28902413, 26403765, 25695920, 25008398, 27463701, 27414745; Changed phenotypes: Neuropathy, Spastic paraplegia 10, autosomal dominant, MIM# 604187, Myoclonus, intractable, neonatal, MIM# 617235",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:11:22.845160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIT as ready",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:11:22.833038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kit has been classified as Green List (High Evidence).",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:11:15.432033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIT were changed from to Piebaldism, MIM# 172800; Gastrointestinal stromal tumor, familial, MIM# 606764; Mastocytosis, cutaneous, MIM# 154800",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:10:51.889780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:10:31.870723+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Piebaldism, MIM# 172800, Gastrointestinal stromal tumor, familial, MIM# 606764, Mastocytosis, cutaneous, MIM# 154800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:07:41.329533+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIZ as ready",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:07:41.318690+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiz has been classified as Green List (High Evidence).",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:07:38.866781+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIZ were changed from Retinitis pigmentosa 69 to Retinitis pigmentosa 69, MIM# 615780",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:07:29.273809+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIZ were set to ",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2022-03-12T12:07:16.008037+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 24680887, 31556760, 29057815; Phenotypes: Retinitis pigmentosa 69, MIM# 615780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:34:57.188999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIZ as ready",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:34:57.180010+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiz has been classified as Green List (High Evidence).",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:34:42.650798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIZ were changed from to Retinitis pigmentosa 69, MIM# 615780",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:33:47.168832+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIZ were set to ",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:33:21.697632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:33:00.596163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 24680887, 31556760, 29057815; Phenotypes: Retinitis pigmentosa 69, MIM# 615780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:28:57.634233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF11 as ready",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:28:57.623651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:28:42.713202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF11 were changed from to Maturity-onset diabetes of the young, type VII MIM#610508",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:28:10.777210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF11 were set to ",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:27:46.785708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:27:24.581514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLF11 as Amber List (moderate evidence)",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:27:24.570500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLF11",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:26:26.514038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF6 as ready",
"entity_name": "KLF6",
"entity_type": "gene"
}
]
}