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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=365",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=363",
"results": [
{
"created": "2024-10-19T12:07:34.464214+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6513",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: glb1 has been classified as Green List (High Evidence).",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-10-19T12:06:58.647268+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6513",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GLB1 were changed from to GM1 gangliosidosis MONDO:0018149; mucopolysaccharidosis type 4B MONDO:0009660",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-10-19T12:06:09.867047+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6512",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GLB1 were set to ",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-10-19T12:05:23.546439+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6511",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-10-19T12:04:34.783409+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6510",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116; Phenotypes: GM1 gangliosidosis MONDO:0018149, mucopolysaccharidosis type 4B MONDO:0009660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-10-19T11:58:23.873464+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6510",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GK as ready",
"entity_name": "GK",
"entity_type": "gene"
},
{
"created": "2024-10-19T11:58:23.854559+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6510",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gk has been classified as Green List (High Evidence).",
"entity_name": "GK",
"entity_type": "gene"
},
{
"created": "2024-10-19T11:58:06.225190+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6510",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GK were changed from to inborn glycerol kinase deficiency MONDO:0010613; X-linked adrenal hypoplasia congenita MONDO:0010264",
"entity_name": "GK",
"entity_type": "gene"
},
{
"created": "2024-10-19T11:57:22.772756+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6509",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GK were set to ",
"entity_name": "GK",
"entity_type": "gene"
},
{
"created": "2024-10-19T11:51:09.642496+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6508",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GK",
"entity_type": "gene"
},
{
"created": "2024-10-19T11:50:45.580874+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6507",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: GK.",
"entity_name": "GK",
"entity_type": "gene"
},
{
"created": "2024-10-19T11:50:18.859210+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6507",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GK: Rating: GREEN; Mode of pathogenicity: None; Publications: 37091526, 33212314; Phenotypes: inborn glycerol kinase deficiency MONDO:0010613, X-linked adrenal hypoplasia congenita MONDO:0010264; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GK",
"entity_type": "gene"
},
{
"created": "2024-10-18T16:16:55.408290+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882, Peroxisome biogenesis disorder 10B MIM#617370, Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-10-17T22:21:09.712109+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8486760 17310273 21120950 9862865 29801986 27834067 27150549 22173106; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2024-10-17T22:13:47.173736+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676 25535305 15955946 23738969 29277723 24443028; Phenotypes: Ullrich congenital muscular dystrophy 1A MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2024-10-17T21:44:01.498518+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259167 25456301 30007336; Phenotypes: Knobloch syndrome, type 1 MIM#267750; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2024-10-17T08:32:53.884791+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAL were changed from Leukodystrophy MONDO:0019046, MAL-related to Leukodystrophy, hypomyelinating, 28, MIM# 620978",
"entity_name": "MAL",
"entity_type": "gene"
},
{
"created": "2024-10-17T08:32:15.656419+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAL: Changed phenotypes: Leukodystrophy, hypomyelinating, 28, MIM# 620978",
"entity_name": "MAL",
"entity_type": "gene"
},
{
"created": "2024-10-17T08:31:53.057504+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAL were changed from Leukodystrophy MONDO:0019046, MAL-related to Leukodystrophy, hypomyelinating, 28, MIM# 620978",
"entity_name": "MAL",
"entity_type": "gene"
},
{
"created": "2024-10-17T08:31:32.362849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAL: Changed phenotypes: Leukodystrophy, hypomyelinating, 28, MIM# 620978",
"entity_name": "MAL",
"entity_type": "gene"
},
{
"created": "2024-10-17T08:29:57.410573+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAL were changed from Leukodystrophy MONDO:0019046, MAL-related to Leukodystrophy, hypomyelinating, 28, MIM# 620978",
"entity_name": "MAL",
"entity_type": "gene"
},
{
"created": "2024-10-17T08:26:12.994647+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAL: Changed phenotypes: Leukodystrophy, hypomyelinating, 28, MIM# 620978",
"entity_name": "MAL",
"entity_type": "gene"
},
{
"created": "2024-10-16T11:08:37.754877+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: KLHL41: Rating: GREEN; Mode of pathogenicity: None; Publications: 24268659, 24268659, 30986853, 28939701, 28826497; Phenotypes: Nemaline myopathy 9, MIM#615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2024-10-16T11:02:51.484377+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23427148, 15883926; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM#609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2024-10-16T10:54:45.754455+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32017015, 11328943, 30079450, 29380424, 29198538, 28557647; Phenotypes: Epidermolysis bullosa, junctional 5B, with pyloric atresia, MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2024-10-16T10:48:03.729861+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20817137, 20493458, 23826986, 26792575, 29220510, 27681595; Phenotypes: Cranioectodermal dysplasia 1, MIM#218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2024-10-16T10:19:50.604932+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29180823, 7943042, 27130160; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2024-10-16T10:08:14.837158+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208207, 27696117; Phenotypes: 3-methylglutaconic aciduria, type VIII, MIM#617248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2024-10-16T10:05:07.985471+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33757164, 1363812; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2024-10-16T09:53:58.504971+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22040219, 11095995, 12754701; Phenotypes: Molybdenum cofactor deficiency C, MIM#615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2024-10-16T09:47:01.090635+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823, 23137060, 18412124; Phenotypes: Mucopolysaccharidosis IVA, MIM#253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2024-10-16T09:33:14.336968+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29566257, 22190451, 17360453, 20301736; Phenotypes: Spondylocarpotarsal synostosis syndrome, MIM#272460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2024-10-16T09:21:08.819342+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 3232707, 22829427, 31945625, 28332470; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2024-10-15T16:56:02.531807+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: 17452773, 20301575, 26590883; Phenotypes: Fanconi anemia, complementation group I, MIM#609053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2024-10-15T16:49:57.259778+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9806548, 12552564; Phenotypes: Fanconi anemia, complementation group G, MIM#614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2024-10-15T16:47:12.733961+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 38017281; Phenotypes: Pontocerebellar hypoplasia, type 1C, 616081 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2024-10-15T16:39:28.758772+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy, MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2024-10-15T16:36:03.711337+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261301, 23236030, 25099528, 24782201; Phenotypes: Arthrogryposis, distal, type 5D, MIM#615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2024-10-15T16:31:36.848586+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9463332, 10655546, 12372064, 21081970; Phenotypes: Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM#231300, Anterior segment dysgenesis 6, multiple subtypes, MIM#617315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2024-10-15T16:28:30.815491+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia, 600348 (3), Autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2024-10-15T16:27:22.334559+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2556453, 1710153, 9585602; Phenotypes: Chronic granulomatous disease, X-linked, MIM#306400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2024-10-15T16:23:19.244411+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM#612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2024-10-15T16:20:21.755166+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: CRLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509788, 17436251, 17436252; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2024-10-15T16:15:50.301085+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21035103, 32427345; Phenotypes: Fibrochondrogenesis 1, MIM#228520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2024-10-15T15:28:23.371455+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23040496, 25232951, 29363216; Phenotypes: Ciliary dyskinesia, primary, 18, 614874 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2024-10-15T11:03:29.041527+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2024-10-15T09:56:18.174422+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937337, 28881388, 32342993; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM#253600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2024-10-15T09:46:46.760691+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:35:31.553895+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6506",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GJC2 as ready",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:35:31.538732+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6506",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gjc2 has been classified as Green List (High Evidence).",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:35:18.617267+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6506",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GJC2 were changed from to hypomyelinating leukodystrophy 2 MONDO:0012125; hereditary spastic paraplegia 44 MONDO:0013179",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:34:24.309711+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6505",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276893; Phenotypes: hypomyelinating leukodystrophy 2 MONDO:0012125, hereditary spastic paraplegia 44 MONDO:0013179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:33:54.131731+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.530",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "gene: PSMF1 was added\ngene: PSMF1 was added to Callosome. Sources: Literature\nMode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMF1 were set to doi: 10.1101/2024.06.19.24308302\nPenetrance for gene: PSMF1 were set to Complete\nReview for gene: PSMF1 was set to GREEN\nAdded comment: Patients have a range of neurological disorders ranging from neonatal lethality to Parkinsonism with intellectual disability. \r\nNearly all patients have corpus callosum agenesis. \r\nLoF have a more severe phenotype than missense. The association of a LoF and a missense is common. \nSources: Literature",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:32:35.205539+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6505",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GJC2 were set to ",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:27:25.714798+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6504",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:05:34.179300+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6503",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GFM1 as ready",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:05:34.163565+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6503",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gfm1 has been classified as Green List (High Evidence).",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:05:17.939037+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6503",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GFM1 were changed from to Leigh syndrome MONDO:0009723",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:04:31.361796+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6502",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GFM1 were set to ",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-10-14T20:03:09.479432+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6501",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-10-14T19:27:43.420277+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6500",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25852744, 31680380, 21986555, 32776492; Phenotypes: Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-10-14T16:18:26.518265+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021 31572517 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi MIM#613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2024-10-14T16:02:19.656421+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880 19896112 27439707 37183190 30762603; Phenotypes: Pitt-Hopkins like syndrome 1 MIM#610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:52:54.667542+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453578 27503289 27453579 27519304; Phenotypes: Microcephaly 17, primary, autosomal recessive MIM#617090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:46:36.977194+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068 12756141 31192527 29518833 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic MIM#254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:40:34.419689+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 31474763 27374770 30986546 33639314 34000999 11416137 21358631; Phenotypes: Meier-Gorlin syndrome 7 MIM#617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:32:28.751491+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 38531898; Phenotypes: Meester-Loeys syndrome MIM#300989 Spondyloepimetaphyseal dysplasia, X-linked MIM#300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:24:44.831059+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: None; Publications: 14556008 29449188 23226316 26343454 37752557; Phenotypes: Ataxia, cerebellar, Cayman type MIM#601238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:16:12.137878+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "edited their review of gene: ASL: Added comment: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.\r\nBiallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:15:45.349514+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:15:37.749872+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.\r\nBiallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association; to: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.\r\nBiallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:15:29.181162+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: ASL: Rating: ; Mode of pathogenicity: None; Publications: 2263616 12384776; Phenotypes: Argininosuccinic aciduria MIM#207900; Mode of inheritance: None",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:07:28.710264+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922 24958424 33402283 32531460 30486714 30477741; Phenotypes: Leukodystrophy, hypomyelinating, 3 MIM#260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:05:32.694085+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425 34234805 33163725; Phenotypes: Renal tubular dysgenesis MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2024-10-14T15:02:36.957592+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: AGBL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26720455 26355662 30925032 38078364 27842159; Phenotypes: Retinitis pigmentosa 75 MIM#617023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGBL5",
"entity_type": "gene"
},
{
"created": "2024-10-14T14:49:04.235766+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 34057829 33033739; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2024-10-14T14:43:51.801734+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24430573 24344687 32183361; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2024-10-14T14:38:39.480237+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462 29271569 26874042 37228654; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly MIM#615503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2024-10-14T11:32:11.516284+11:00",
"panel_name": "Parathyroid Tumour",
"panel_id": 4363,
"panel_version": "1.1",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel name changed from Parathyroid Cancer to Parathyroid Tumour",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-10-11T22:18:55.832946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2063",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: DHRSX: Note that this gene is located in the pseudoautosomal region 1.",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-11T22:17:45.912101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2063",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: DHRSX was added\ngene: DHRSX was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRSX were set to 38821050\nPhenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286\nReview for gene: DHRSX was set to GREEN\nAdded comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.\r\n\r\nThis gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype. \nSources: Literature",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-11T19:43:03.706896+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A5 as ready",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-10-11T19:43:03.671504+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:49:01.861546+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A5 were changed from to Developmental and epileptic encephalopathy 34, MIM# 616645",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:48:22.484687+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A5 were set to ",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:47:43.952229+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:47:04.874641+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Note LIMITED by ClinGen. However, note functional evidence including mouse model.\r\n\r\nTen variants (missense, small in-frame deletions, and splicing) that have been reported in six probands in three publications (PMIDs: 26333769, 27436767, 31618474) are included in this curation. There is some preliminary evidence to suggest that the mechanism of pathogenicity may be loss of function. Electrophysiological studies showed reduced transporter activity of proteins with some variants, although few studies are available at this time (PMIDs: 26333769, 27436767). This gene-disease relationship is also supported by a knockout mouse model in which gentle handling or movement of the mother and littermates triggered seizures (PMID: 12000122). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.; to: LIMITED by ClinGen. However, note functional evidence including mouse model and additional family in 38660387, again with supportive functional data.\r\n\r\nTen variants (missense, small in-frame deletions, and splicing) that have been reported in six probands in three publications (PMIDs: 26333769, 27436767, 31618474) are included in this curation. There is some preliminary evidence to suggest that the mechanism of pathogenicity may be loss of function. Electrophysiological studies showed reduced transporter activity of proteins with some variants, although few studies are available at this time (PMIDs: 26333769, 27436767). This gene-disease relationship is also supported by a knockout mouse model in which gentle handling or movement of the mother and littermates triggered seizures (PMID: 12000122). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:46:40.335685+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC12A5: Changed publications: 26333769, 27436767, 31618474, 12000122, 38660387",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:45:25.483570+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333769, 27436767, 31618474, 12000122; Phenotypes: Developmental and epileptic encephalopathy 34, MIM# 616645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:40:25.953976+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP3 as ready",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:40:25.926936+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp3 has been classified as Green List (High Evidence).",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:37:05.606884+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP3 were changed from Meckel syndrome 7, 267010 (3) to Renal-hepatic-pancreatic dysplasia 1 MIM#208540; Meckel syndrome 7 MIM#267010; Nephronophthisis 3 MIM#604387",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:36:37.418025+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP1 as ready",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:36:37.399396+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp1 has been classified as Green List (High Evidence).",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:36:27.079564+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP1 were changed from Joubert syndrome 4, 609583 (3) to Nephronophthisis 1, juvenile MIM#256100; Joubert syndrome 4 MIM#609583; Senior-Loken syndrome-1 MIM#266900",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:35:56.784631+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFAF5 as ready",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:35:56.771910+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf5 has been classified as Green List (High Evidence).",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:35:53.811480+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFAF5 were changed from Mitochondrial complex 1 deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 16 MIM#618238",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:35:24.887370+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA1 as ready",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2024-10-11T18:35:24.863739+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA1",
"entity_type": "gene"
}
]
}