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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1192",
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"results": [
{
"created": "2021-10-06T18:20:26.237736+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPR179 was added\ngene: GPR179 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.186013+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNB3 was added\ngene: GNB3 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNB3 were set to Night blindness, congenital stationary, type 1H, MIM# 617024",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.140641+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAT1 was added\ngene: GNAT1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GNAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GNAT1 were set to Night blindness, congenital stationary, autosomal dominant 3, 610444",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.095224+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHM was added\ngene: CHM was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: CHM were set to Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.048416+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA2D4 was added\ngene: CACNA2D4 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CACNA2D4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CACNA2D4 were set to Congenital Stationary Night Blindness; Retinal cone dystrophy 4, 610478",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.996470+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Royal Melbourne Hospital was added to CACNA1F.\nMode of inheritance for gene CACNA1F was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nAdded phenotypes Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071; Cone-rod dystropy, X-linked, 3, 300476 for gene: CACNA1F",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.944200+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CABP4 was added\ngene: CABP4 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CABP4 were set to Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.888698+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470 for gene: MITF",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.837475+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Auriculocondylar syndrome 1 602483; Ocular Albinism for gene: GNAI3",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.786667+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Mitochondrial DNA depletion syndrome 3 for gene: DGUOK",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.733803+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Retinitis pigmentosa 14 600132 AR; Leber congenital amaurosis 15 613843 AR for gene: TULP1",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.681907+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Griscelli syndrome, type 1 214450 AR for gene: MYO5A",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.629659+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Griscelli syndrome, type 3 609227 AR for gene: MLPH",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.577511+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Mannosidosis, beta 248510 AR for gene: MANBA",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.520681+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Poretti-Boltshauser syndrome, OMIM:615960 for gene: LAMA1",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.467932+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 7 614076 AR for gene: DTNBP1",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.415762+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ocutaneous albinism for gene: DCT",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.363707+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes ?Hermansky-pudlak syndrome 9 614171 AR for gene: BLOC1S6",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.311723+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome, MONDO:0019312 for gene: BLOC1S5",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.259916+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560 for gene: BLOC1S3",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.202986+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes ?Hermansky-Pudlak syndrome 10 617050 AR for gene: AP3D1",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.150723+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Foveal hypoplasia without albinism; ?Retinitis pigmentosa 85, 618345; Infantile nystagmus for gene: AHR",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.098084+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Oculocutaneous Albinism; Albinism, oculocutaneous, type III for gene: TYRP1",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:25.045001+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Oculocutaneous Albinism; Albinism, oculocutaneous, type IB for gene: TYR",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.986475+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Oculocutaneous Albinism; Oculocutaneous albinism type IV,606574; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV for gene: SLC45A2",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.928389+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218 for gene: SLC38A8",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.873877+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI for gene: SLC24A5",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.822163+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR for gene: SETX",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.771128+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR for gene: SACS",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.717764+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Griscelli syndrome, type 2 607624 AR for gene: RAB27A",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.666475+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD for gene: PAX6",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.614799+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Skin/hair/eye pigmentation 1, blond/brown hair; Albinism, oculocutaneous, type II; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous for gene: OCA2",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.557779+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes optic neuropathy with progressive vision loss; Chediak-Higashi syndrome; oculo-cutaneous albinism for gene: LYST",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.501975+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Albinism, oculocutaneous, type VII for gene: LRMDA",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.449943+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 6 614075 AR for gene: HPS6",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.306555+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 5 for gene: HPS5",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.250786+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 4 for gene: HPS4",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.193097+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 3 for gene: HPS3",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.136043+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 1 for gene: HPS1",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.082199+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ocular albinism, type I; Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500 for gene: GPR143",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:24.026480+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700 for gene: FRMD7",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:23.965568+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Mental retardation, with or without nystagmus 300422; FG syndrome 4 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD for gene: CASK",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:23.904795+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL; Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL for gene: CACNA1F",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:23.848858+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated for gene: CACNA1A",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:23.793616+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 2 608233 AR for gene: AP3B1",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2021-10-06T17:08:47.676678+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Albinism or congenital nystagmus to Congenital nystagmus",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-06T17:00:06.322298+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP6 as ready",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-10-06T17:00:06.305259+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp6 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-10-06T17:00:01.549771+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBGCP6 as Green List (high evidence)",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-10-06T17:00:01.538867+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp6 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-10-06T14:27:09.051173+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1265",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TUBGCP6 was added\ngene: TUBGCP6 was added to Genetic Epilepsy. Sources: Expert list,Literature\nMode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP6 were set to 22279524; 33453472\nPhenotypes for gene: TUBGCP6 were set to Microcephaly and chorioretinopathy, autosomal recessive, 1 - 251270; Epilepsy\nReview for gene: TUBGCP6 was set to GREEN\nAdded comment: Known association with congenital microcephaly, developmental delay and retinal disorders with epilepsy also reported in some individuals. \nSources: Expert list, Literature",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:44:48.275655+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN2 as ready",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:44:48.259618+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn2 has been classified as Red List (Low Evidence).",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:44:40.270896+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: CLCN2.",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:44:29.211262+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN2 was added\ngene: CLCN2 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: CLCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLCN2 were set to 23707145; 19191339; 20037607; 19710712\nPhenotypes for gene: CLCN2 were set to {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628\nReview for gene: CLCN2 was set to RED\nAdded comment: Conflicting evidence regarding association with epilepsy syndromes, including one retracted paper.\r\n\r\nIn 3 of 46 unrelated families with IGE localized to 3q26, Haug et al. (2003) identified 3 mutations in the CLCN2 gene. In a re-evaluation of 2 of the families reported by Haug et al. (2003), Kleefuss-Lie et al. (2009) found discrepancies in the family structure, phenotype, and genetic analysis. On this basis, all but one of the original authors retracted the paper. \r\n\r\nStogmann et al. (2006) did not identify pathogenic mutations in the CLCN2 gene in 61 patients with IGE or 35 patients with temporal lobe epilepsy, suggesting that CLCN2 gene mutations are not a common cause of these disorders. \r\n\r\nBy sequencing of a large collection of human DNA followed by electrophysiologic analysis, Blanz et al. (2007) concluded that several CLCN2 sequence abnormalities previously found in patients with epilepsy most likely represented benign polymorphisms. \r\n\r\nSaint-Martin et al. (2009) identified 2 different heterozygous variants in the CLCN2 gene in affected members of 2 unrelated families with juvenile myoclonic epilepsy (EJM8) and idiopathic generalized epilepsy (EIG11), respectively. In both families, the unaffected father also had the variant, suggesting either reduced penetrance or additional unidentified factors necessary for full phenotypic expression. \r\n\r\nNiemeyer et al. (2010) disagreed with the conclusion by Kleefuss-Lie et al. (2009) that some of the work by Haug et al. (2003) had merit. Based on lack of functional consequences of the variants reported by Haug et al. (2003), Niemeyer et al. (2010) asserted that there is no evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. \nSources: Expert Review",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:30:28.843413+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRM1 as ready",
"entity_name": "CHRM1",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:30:28.834617+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrm1 has been classified as Red List (Low Evidence).",
"entity_name": "CHRM1",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:30:21.616865+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRM1 was added\ngene: CHRM1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHRM1 were set to 34212451; 31981491; 12483218\nPhenotypes for gene: CHRM1 were set to Neurodevelopmental disorder; intellectual disability; autism; epilepsy\nReview for gene: CHRM1 was set to RED\nAdded comment: PMID: 34212451 - 2 unrelated cases with de novo missense variants (p.Pro380Leu and p.Phe425Ser), one case with early-onset refractory epilepsy, severe disability, and progressive cerebral and cerebellar atrophy, and the second case with mild dysmorphism, global developmental delay, and moderate intellectual disability. In vitro biochemical analyses of p.Pro380Leu demonstrated a reduction in protein levels, impaired cellular trafficking, and defective activation of intracellular signaling pathways.\r\nPMID: 31981491 - an autism spectrum disorder (no other information on phenotype, except ascertained to have severe neurodevelopmental delay) case with a de novo missense variant p.(Arg210Leu)\r\nPMID: 12483218 - null mouse model assessing memory demonstrated selective cognitive dysfunction. \nSources: Expert Review",
"entity_name": "CHRM1",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:28:31.162952+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1263",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: U2AF2 was added\ngene: U2AF2 was added to Genetic Epilepsy. Sources: Expert list,Literature\nMode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: U2AF2 were set to 34112922\nPhenotypes for gene: U2AF2 were set to Epilepsy; Developmental Delay; Intellectual Disability\nReview for gene: U2AF2 was set to RED\nAdded comment: Novel gene. De novo variant identified in a child with epilepsy, global developmental delay and dysmorphism (Hiraide et al, J Hum Genetics 2021) \nSources: Expert list, Literature",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:18:07.281903+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UMPS as ready",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:18:07.272458+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: umps has been classified as Green List (High Evidence).",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:17:46.484731+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UMPS as Green List (high evidence)",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:17:46.474542+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: umps has been classified as Green List (High Evidence).",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:17:01.702421+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLG4 were changed from Intellectual developmental disorder 62, MIM#618793 to Intellectual developmental disorder 62, MIM#618793; Marfanoid features",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:16:28.703492+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DLG4: Changed phenotypes: Intellectual developmental disorder 62, MIM#618793, Marfanoid features",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:16:09.084517+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLG4 as ready",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:16:09.074025+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg4 has been classified as Green List (High Evidence).",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:16:05.160210+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:15:36.244156+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLG4 were set to PMID: 33597769",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:15:06.657469+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLG4 as Green List (high evidence)",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:15:06.646580+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg4 has been classified as Green List (High Evidence).",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:14:41.514778+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Marfanoid habits described in multiple affected individuals.; to: Marfanoid habitus described in multiple affected individuals.",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:14:27.028281+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29460436; Phenotypes: Intellectual developmental disorder 62, MIM#618793; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-06T13:10:16.095011+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1262",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UMPS was added\ngene: UMPS was added to Genetic Epilepsy. Sources: Expert list,Literature\nMode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UMPS were set to 25757096; 33489760\nPhenotypes for gene: UMPS were set to Orotic aciduria - 258900; Epilepsy\nReview for gene: UMPS was set to GREEN\nAdded comment: Gene associated with orotic aciduria. Seizures have been reported in some individuals. \nSources: Expert list, Literature",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.916780+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MITF was added\ngene: MITF was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MITF were set to Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.861794+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAI3 was added\ngene: GNAI3 was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: GNAI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GNAI3 were set to 27607449\nPhenotypes for gene: GNAI3 were set to Auriculocondylar syndrome 1 602483; Ocular Albinism",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.809569+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DGUOK was added\ngene: DGUOK was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DGUOK were set to 12210798; 12205643\nPhenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.756266+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TULP1 was added\ngene: TULP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TULP1 were set to Retinitis pigmentosa 14 600132 AR; Leber congenital amaurosis 15 613843 AR",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.697980+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO5A was added\ngene: MYO5A was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO5A were set to Griscelli syndrome, type 1 214450 AR",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.644336+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLPH was added\ngene: MLPH was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLPH were set to Griscelli syndrome, type 3 609227 AR",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.591163+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MANBA was added\ngene: MANBA was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MANBA were set to Mannosidosis, beta 248510 AR",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.532062+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA1 was added\ngene: LAMA1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMA1 were set to 29167897; 28283601; 32195884; 25105227; 328840387; 33251915\nPhenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, OMIM:615960",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.477555+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DTNBP1 was added\ngene: DTNBP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7 614076 AR",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.426441+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCT was added\ngene: DCT was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCT were set to 33100333\nPhenotypes for gene: DCT were set to Ocutaneous albinism",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.375847+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLOC1S6 was added\ngene: BLOC1S6 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLOC1S6 were set to ?Hermansky-pudlak syndrome 9 614171 AR",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.325749+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLOC1S5 was added\ngene: BLOC1S5 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S5 were set to 32565547\nPhenotypes for gene: BLOC1S5 were set to Hermansky-Pudlak syndrome, MONDO:0019312",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.273746+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLOC1S3 was added\ngene: BLOC1S3 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S3 were set to 16385460; 32687635; 22709368\nPhenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.218862+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP3D1 was added\ngene: AP3D1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP3D1 were set to ?Hermansky-Pudlak syndrome 10 617050 AR",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.167008+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AHR was added\ngene: AHR was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AHR were set to 28851966; 31009037; 23301081\nPhenotypes for gene: AHR were set to Foveal hypoplasia without albinism; ?Retinitis pigmentosa 85, 618345; Infantile nystagmus",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.115085+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TYRP1 was added\ngene: TYRP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYRP1 were set to Oculocutaneous Albinism; Albinism, oculocutaneous, type III",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.063468+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TYR was added\ngene: TYR was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Oculocutaneous Albinism; Albinism, oculocutaneous, type IB",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:39.010143+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC45A2 was added\ngene: SLC45A2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC45A2 were set to Oculocutaneous Albinism; Oculocutaneous albinism type IV,606574; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.947241+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC38A8 was added\ngene: SLC38A8 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC38A8 were set to 32744312; 24045842; 29345414; 24290379\nPhenotypes for gene: SLC38A8 were set to foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.891307+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC24A5 was added\ngene: SLC24A5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications 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\nPhenotypes for gene: SLC24A5 were set to Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.841597+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SETX was added\ngene: SETX was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SETX were set to Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.792093+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type 270550 AR",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.742094+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB27A was added\ngene: RAB27A was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB27A were set to Griscelli syndrome, type 2 607624 AR",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.681050+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX6 was added\ngene: PAX6 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX6 were set to Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.630965+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OCA2 was added\ngene: OCA2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OCA2 were set to Skin/hair/eye pigmentation 1, blond/brown hair; Albinism, oculocutaneous, type II; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.578120+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications 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\nPhenotypes for gene: LYST were set to optic neuropathy with progressive vision loss; Chediak-Higashi syndrome; oculo-cutaneous albinism",
"entity_name": "LYST",
"entity_type": "gene"
}
]
}