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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=304",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=302",
"results": [
{
"created": "2025-01-21T11:49:32.167527+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TRAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient MIM#615387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2025-01-21T11:36:19.519750+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4 MIM#617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2025-01-21T11:28:36.045312+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 36031188; Phenotypes: Osteopetrosis, autosomal recessive 7 MIM#612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2025-01-21T10:59:56.521492+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: 29891882, 20232449, 26092869, 27336129; Phenotypes: COACH syndrome 1 MIM#216360, Joubert syndrome 6 MIM#610688, Meckel syndrome 3 MIM#607361, Nephronophthisis 11 MIM#613550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2025-01-21T10:48:25.621557+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20089971, 29872333, 31903676, 34057271, 34014608; Phenotypes: Achondrogenesis, type IA, MIM #200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2025-01-21T10:03:24.685588+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33879611; Phenotypes: Optic atrophy 7 MIM#612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM126A",
"entity_type": "gene"
},
{
"created": "2025-01-21T09:56:44.516929+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36531881, 19965530, 36341250; Phenotypes: Alport syndrome 1, X-linked, MIM#301050; 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": "COL4A5",
"entity_type": "gene"
},
{
"created": "2025-01-21T09:38:36.048613+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: 38163131, 22019273; Phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307, Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376, Cranioectodermal dysplasia 4, MIM# 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2025-01-21T09:30:05.722847+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.\r\nDescribed in 8 consanguineous Arab families (6 different homozygous mutations).; to: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.\r\nDescribed in 8 consanguineous Arab families (6 different homozygous mutations).\r\nMIM #614465",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2025-01-21T09:27:50.233140+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28205048, 33489760; Phenotypes: Orotic aciduria, MIM#258900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2025-01-21T09:26:07.441288+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: TMEM138: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22282472, 34354814, 20301500; Phenotypes: Joubert syndrome 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2025-01-21T09:22:41.074003+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: Gene also know as C10ORF2. \r\n\r\nMTDPS7 is characterized by primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy (OMIM)\r\n\r\nPMID: 35035228: Reported an 11yo girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations\r\n\r\nAllelic conditions, Perrault syndrome is less severe than MTDPS7.; to: Gene also know as C10ORF2. \r\n\r\nMTDPS7 is characterized by primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy (OMIM)\r\n\r\nPMID: 35035228: Reported an 11yo girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations\r\n\r\nAllelic conditions, Perrault syndrome is less severe than MTDPS7.",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2025-01-21T09:21:25.748775+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 31852434, 35035228; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245, Perrault syndrome 5, MIM#616138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2025-01-21T09:12:31.383950+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 33816677, 31267352, 30911037, 27677415; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2025-01-21T09:10:39.975360+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25388407, 23315216, 29923087, 26238251, 11283793, 30740741; Phenotypes: Transaldolase deficiency MIM#606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2025-01-21T09:00:34.104787+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20512146; Phenotypes: Joubert syndrome 2, MIM#608091, Meckel syndrome 2, MIM#603194, Retinitis pigmentosa 98, MIM#620996, ciliopathy MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2025-01-21T08:50:10.220269+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: Sulfite oxidase deficiency MIM#272300; Phenotypes: 9428520, 15952210, 31127934, 39676698, 36303223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2025-01-21T08:28:21.345202+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20619369, 34657628, 18940313, 19336477, 22238637; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome MIM#602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2025-01-20T17:46:55.936143+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197, 24568568; Phenotypes: Ciliary dyskinesia, primary, 24 MIM#615481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:56:11.098147+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBBP8 as ready",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:56:11.068259+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp8 has been classified as Green List (High Evidence).",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:56:07.180353+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBBP8 were changed from Seckel syndrome 2, 606744 (3) to Jawad syndrome MIM#251255; Seckel syndrome 2 MIM#606744",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:55:55.070830+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBBP8 were set to ",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:55:24.970333+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2B as ready",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:55:24.956954+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:55:20.595989+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181 (3) to Aicardi-Goutieres syndrome 2 MIM#610181",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:55:05.985491+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2B were set to ",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:54:39.194613+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU4ATAC as ready",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:54:39.181465+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Green List (High Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:54:35.536490+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3) to RNU4ATAC spectrum disorder MONDO:0100558",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:54:22.863668+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU4ATAC were set to ",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:54:09.938812+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:53:28.905121+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROBO3 as ready",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:53:28.886768+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo3 has been classified as Green List (High Evidence).",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:53:24.785249+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROBO3 were changed from Gaze palsy, horizontal, with progressive scoliosis, 607313 (3) to Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:53:12.111692+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROBO3 were set to ",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:51:05.103090+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHS1 as ready",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:51:05.086580+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphs1 has been classified as Green List (High Evidence).",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:51:00.922031+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHS1 were changed from Nephrotic syndrome, type 1, 256300 (3) to Nephrotic syndrome, type 1, MIM# 256300",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:50:48.860235+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHS1 were set to ",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:50:21.589900+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPA3 as ready",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:50:21.578855+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opa3 has been classified as Green List (High Evidence).",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:50:18.395094+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA3 were changed from 3-methylglutaconic aciduria, type III, 258501 (3) to 3-methylglutaconic aciduria, type III MIM#258501; 3-methylglutaconic aciduria type 3 MONDO:0009787",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:50:05.104057+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPA3 were set to ",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:49:40.485312+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RORC as ready",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:49:40.454267+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rorc has been classified as Green List (High Evidence).",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:49:37.321692+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RORC were changed from Immunodeficiency 42, 616622 (3), Autosomal recessive to Immunodeficiency 42 MIM#616622",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:49:16.903989+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RORC were set to ",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:48:52.216271+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCCB as ready",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:48:52.206075+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pccb has been classified as Green List (High Evidence).",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:48:48.408415+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCCB were changed from Propionicacidemia, 606054 (3) to Propionicacidemia MIM#606054; propionic acidemia MONDO:0011628",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:48:35.788443+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCCB were set to ",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:48:11.835372+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCYT1A as ready",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:48:11.818977+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcyt1a has been classified as Green List (High Evidence).",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:48:08.513006+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCYT1A were changed from Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3) to Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:47:54.640249+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCYT1A were set to ",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:47:31.443559+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX26 as ready",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:47:31.432056+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Green List (High Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:47:27.267035+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX26 were changed from Peroxisome biogenesis disorder 7A (Zellweger), 614872 to Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938; Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:47:13.273351+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX26 were set to ",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:46:31.441268+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLP1 as ready",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:46:31.425630+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plp1 has been classified as Green List (High Evidence).",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:46:27.437070+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease, 312080 (3) to Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714; Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:46:13.893762+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLP1 were set to ",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:43:55.046359+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31577252, 32980846; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive MIM#612304, MONDO:0012860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:29:23.571101+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301361, 22343157, 24095575; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714, Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2025-01-20T16:20:22.808673+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717447, 15858711, 17336976; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938, Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2025-01-20T15:55:28.535452+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28272537, 24387990, 24387991, 24889630; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2025-01-20T15:39:19.322512+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7386459, 9683601, 10502773, 35296328; Phenotypes: Propionicacidemia MIM#606054, propionic acidemia MONDO:0011628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2025-01-20T15:12:56.645516+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376, 32960152; Phenotypes: Immunodeficiency 42 MIM#616622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2025-01-20T14:56:52.908099+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31928268, 39166438, 11668429; Phenotypes: 3-methylglutaconic aciduria, type III MIM#258501, 3-methylglutaconic aciduria type 3 MONDO:0009787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2025-01-20T14:38:24.603843+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597, 10972661; Phenotypes: Nephrotic syndrome, type 1, MIM# 256300, congenital nephrotic syndrome, Finnish type MONDO:0009732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:56:05.195263+11:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-01-20T13:55:44.367377+11:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASGRP1 as ready",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:55:44.347630+11:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:55:28.232152+11:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT3 as ready",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:55:28.222182+11:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat3 has been classified as Green List (High Evidence).",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:54:33.243604+11:00",
"panel_name": "Immunological disorders_SuperPanel",
"panel_id": 239,
"panel_version": "12.31",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Changed child panels to: Autoinflammatory Disorders; Combined Immunodeficiency; Bone Marrow Failure; Phagocyte Defects; Defects of intrinsic and innate immunity; Common Variable Immunodeficiency; Severe Combined Immunodeficiency (absent T present B cells); Severe Combined Immunodeficiency (absent T absent B cells); Susceptibility to Fungal Infections; Hereditary angioedema; Disorders of immune dysregulation; Predominantly Antibody Deficiency; Susceptibility to Viral Infections; Inflammatory bowel disease; Complement Deficiencies; Autoimmune Lymphoproliferative Syndrome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-01-20T13:53:52.050657+11:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel status changed from internal to public\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-01-20T13:37:03.698441+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGA as ready",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:37:03.683689+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mga has been classified as Amber List (Moderate Evidence).",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:36:58.298695+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MGA as Amber List (moderate evidence)",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:36:58.286078+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mga has been classified as Amber List (Moderate Evidence).",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:36:49.964752+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGA was added\ngene: MGA was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: MGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MGA were set to 39545409\nPhenotypes for gene: MGA were set to Premature ovarian failure 26, MIM# 621065\nReview for gene: MGA was set to AMBER\nAdded comment: Association with POF: LoF variants enriched in a large POF cohort. Familial testing in a small number of families performed. Mouse model supportive. Also borderline Amber/Green. Amber rating until phenotypes and mechanisms of disease for these two associations clarified. \nSources: Literature",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:36:39.069721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGA as ready",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:36:39.055684+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mga has been classified as Amber List (Moderate Evidence).",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:36:19.741780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MGA as Amber List (moderate evidence)",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:36:19.730717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mga has been classified as Amber List (Moderate Evidence).",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:31:42.530642+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MGA as Amber List (moderate evidence)",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:31:42.515750+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mga has been classified as Amber List (Moderate Evidence).",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:31:01.604533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGA was added\ngene: MGA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MGA were set to 39600096; 20044811; 39545409\nPhenotypes for gene: MGA were set to Syndromic disease, MONDO:0002254, MGA-related; Premature ovarian failure 26, MIM#\t621065\nReview for gene: MGA was set to AMBER\nAdded comment: Association with syndromic disease: Three individuals with de novo LoF variants reported in individuals with ID and congenital anomalies. Zebrafish model supports role of this transcription factor in organogenesis. Note there are previous, less clear reports of association with NDD/CHD. Gene is constrained for LoF variants in gnomad v4; however, note there are ~30 individuals with LoF variants present. Borderline Green/Amber.\r\n\r\nAssociation with POF: LoF variants enriched in a large POF cohort. Familial testing in a small number of families performed. Mouse model supportive. Also borderline Amber/Green.\r\n\r\nAmber rating until phenotypes and mechanisms of disease for these two associations clarified. \nSources: Literature",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:29:26.412898+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MGA: Added comment: Note LoF variants now also associated with POF, supportive mouse model. Downgrade to Amber until further delineation of phenotypes and mechanisms.; Changed rating: AMBER",
"entity_name": "MGA",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:24:33.140933+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP25 were changed from USP25-related epilepsy (epilepsy, idiopathic generalized, MONDO:0005579) to {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:23:55.613889+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP25 were changed from Epilepsy, idiopathic generalized, MONDO:0005579, USP25-related to {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2025-01-20T13:23:07.919350+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: USP25: Changed phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064",
"entity_name": "USP25",
"entity_type": "gene"
},
{
"created": "2025-01-20T12:12:33.585571+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16525029, 15105459; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2025-01-20T11:59:16.912372+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36795902, 26522830; Phenotypes: RNU4ATAC spectrum disorder MONDO:0100558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2025-01-20T11:27:05.744234+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2 MIM#610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2025-01-20T10:53:20.640064+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1235",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333564, 24440292, 21998596, 24389050, 34270086; Phenotypes: Jawad syndrome MIM#251255, Seckel syndrome 2 MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2025-01-19T19:06:24.872992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB1 were changed from Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500; Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061",
"entity_name": "LMNB1",
"entity_type": "gene"
}
]
}