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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1155",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1153",
"results": [
{
"created": "2021-10-27T17:22:21.515361+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP3D1 were changed from ?Hermansky-Pudlak syndrome 10 617050 AR to Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:22:12.462552+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP3D1 were set to ",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:22:04.270595+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP3D1 as Red List (low evidence)",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:22:04.261212+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3d1 has been classified as Red List (Low Evidence).",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:21:55.898987+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP3D1: Rating: RED; Mode of pathogenicity: None; Publications: 26744459, 9697856; Phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050, Oculocutaneous albinism, Severe neutropaenia, Recurrent infections, Seizures, Hearing loss, Neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:20:55.486797+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHR as ready",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:20:55.477398+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahr has been classified as Amber List (Moderate Evidence).",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:20:52.999928+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus to Foveal hypoplasia without albinism; Infantile nystagmus",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:20:42.070481+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 31009037, 33193710, 31896775; Phenotypes: Foveal hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:19:27.446960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 31009037, 33193710; Phenotypes: Foveal hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:16:16.503539+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC45A2 as ready",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:16:16.492117+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc45a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:16:14.402948+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC45A2 were changed from Oculocutaneous Albinism; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV; Oculocutaneous albinism type IV,606574 to Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:16:03.957856+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC45A2 were set to ",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:15:05.090619+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC38A8 as ready",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:15:05.080282+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:15:03.065427+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, MIM# 609218; MONDO:0012216",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:14:30.708882+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24045842, 24290379, 34415986, 34037952, 33498813; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, MIM# 609218; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:11:04.968981+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC24A5 as ready",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:11:04.954562+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc24a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:11:02.961973+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC24A5 were changed from Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI to Albinism, oculocutaneous, type VI, MIM# 113750",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:10:55.090337+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC24A5 were set to 23364476 - case report of patient of Chinese origin; 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism; 26686029 case identified in a cohort South-Italian origin; 27129268 - functional data to support the phenotypic effects of variants reported",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:10:19.489504+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIMS2 as ready",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:10:19.478900+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims2 has been classified as Green List (High Evidence).",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:10:17.548095+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIMS2 were changed from night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive\t, MIM#618970; retinal dysfunction; nystagmus; autism to Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:10:06.306192+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIMS2 were set to ",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:09:54.155182+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: RIMS2: Nystagmus is a reported feature.",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:09:03.773109+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC24A1 as ready",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:09:03.763226+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc24a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:08:58.901777+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC24A1 as Red List (low evidence)",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:08:58.891689+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc24a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:08:51.563999+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC24A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM# 613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:07:49.981285+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETX as ready",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:07:49.972403+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setx has been classified as Green List (High Evidence).",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:07:47.854168+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:07:38.496640+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:07:28.354345+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:04:56.627979+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAG as ready",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:04:56.616477+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sag has been classified as Red List (Low Evidence).",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:04:54.244204+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAG were set to ",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:04:44.496329+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SAG as Red List (low evidence)",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:04:44.485216+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sag has been classified as Red List (Low Evidence).",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:04:34.904594+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SAG: Changed rating: RED",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:04:29.671585+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally.\r\n\r\nWell established gene-disease association, multiple families reported.; to: Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally.\r\n\r\nWell established gene-disease association, multiple families reported. Nystagmus is not a feature.",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:03:59.756111+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SACS as ready",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:03:59.747046+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sacs has been classified as Green List (High Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:03:57.888391+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type 270550 AR to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2021-10-27T17:03:43.288645+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:54:23.413601+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RGS9BP as ready",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:54:23.399782+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgs9bp has been classified as Red List (Low Evidence).",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:54:19.978748+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RGS9BP as Red List (low evidence)",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:54:19.967479+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgs9bp has been classified as Red List (Low Evidence).",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:54:11.639142+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RGS9BP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bradyopsia MIM#608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:53:08.257684+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RGS9 as ready",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:53:08.248090+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgs9 has been classified as Red List (Low Evidence).",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:53:03.704174+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RGS9 as Red List (low evidence)",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:53:03.694462+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgs9 has been classified as Red List (Low Evidence).",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:52:53.795986+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RGS9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bradyopsia MIM#608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:51:11.952243+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6H as ready",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:51:11.918298+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6h has been classified as Green List (High Evidence).",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:51:05.099737+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants.; to: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants. Nystagmus is a feature of achromatopsia.",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:50:20.627090+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OCA2 as ready",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:50:20.613978+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oca2 has been classified as Green List (High Evidence).",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:50:17.943306+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OCA2 were changed from Albinism, oculocutaneous, type II; Skin/hair/eye pigmentation 1, blond/brown hair; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous to Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:50:07.701236+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OCA2 were set to ",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:49:33.912187+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LYST as ready",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:49:33.897732+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyst has been classified as Green List (High Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:49:31.610321+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYST were changed from oculo-cutaneous albinism; Chediak-Higashi syndrome; optic neuropathy with progressive vision loss to Chediak-Higashi syndrome, MIM# 214500",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:49:20.250449+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LYST were set to 20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.; 9215679; 10482950; 8896560",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:28:23.476381+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRMDA as ready",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:28:23.466738+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrmda has been classified as Green List (High Evidence).",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:28:21.263187+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRMDA were changed from Albinism, oculocutaneous, type VII to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:28:12.458332+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRMDA were set to PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism; PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11; 23395477",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:26:57.096176+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPGRIP1 as ready",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:26:57.086041+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgrip1 has been classified as Green List (High Evidence).",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:26:55.058669+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPGRIP1 were changed from to Leber congenital amaurosis 6, MIM#\t613826; congenital nystagmus",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:26:30.059279+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPGRIP1 were set to ",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:26:22.271574+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPGRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:00:11.351408+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPE65 as ready",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-10-27T16:00:11.341535+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.116",
"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": "2021-10-27T16:00:08.657242+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPE65 were changed from Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Leber congenital amaurosis 2; Retinitis pigmentosa 20 to Leber congenital amaurosis 2, 204100",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:59:53.729590+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPE65 were set to ",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:59:25.115610+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RDH5 as ready",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:59:25.105197+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdh5 has been classified as Green List (High Evidence).",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:59:22.401881+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RDH5 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness to Fundus albipunctatus (MIM#136880); Congenital Stationary Night Blindness",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:59:07.315470+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RDH5 were set to ",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:58:58.488392+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:58:47.144119+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 15790919, 14718298, 11812441, 10369264, 32232344; Phenotypes: Fundus albipunctatus (MIM#136880); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:57:02.396790+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RDH5 were set to 32232344",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:56:42.356068+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:56:22.869846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369264; Phenotypes: Fundus albipunctatus (MIM#136880); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:54:43.235000+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RDH5 as ready",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:54:43.225402+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdh5 has been classified as Red List (Low Evidence).",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:54:27.110829+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RDH5 were changed from Congenital Stationary Night Blindness; Fundus albipunctatus; Fundus albipunctatus, 136880; Achromatopsia, Cone, and Cone-rod Dystrophy to Fundus albipunctatus, MIM# 136880",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:54:14.355980+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RDH5 were set to ",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:54:06.153472+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:53:15.485524+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RDH5 as Red List (low evidence)",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:53:15.475896+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdh5 has been classified as Red List (Low Evidence).",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:52:26.684312+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETHE1 as ready",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:52:26.667001+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ethe1 has been classified as Green List (High Evidence).",
"entity_name": "ETHE1",
"entity_type": "gene"
}
]
}