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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=493",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=491",
"results": [
{
"created": "2024-02-02T13:30:39.086722+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2214",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SNAP29 as ready",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-02-02T13:30:39.068415+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2214",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: snap29 has been classified as Green List (High Evidence).",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-02-02T13:30:36.014831+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2214",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SNAP29 as Green List (high evidence)",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-02-02T13:30:35.995827+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2214",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: snap29 has been classified as Green List (High Evidence).",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-02-02T13:29:09.087078+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2213",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SNAP29 was added\ngene: SNAP29 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAP29 were set to PMID: 33977139\nPhenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome MIM#609528\nReview for gene: SNAP29 was set to GREEN\nAdded comment: Seizures (in some patients) noted in OMIM\r\n\r\nPMID: 33977139 - cohort of 6 probands, seizures detected in 3/6. Paper reviews previous reports, notes seizures in another cohort of 7/19 \nSources: Literature",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-02-02T10:29:48.238337+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2212",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SMARCE1 as ready",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2024-02-02T10:29:48.223196+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2212",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: smarce1 has been classified as Red List (Low Evidence).",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2024-02-02T10:29:40.343229+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2212",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SMARCE1 was added\ngene: SMARCE1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMARCE1 were set to PMID: 30548424\nPhenotypes for gene: SMARCE1 were set to Coffin-Siris syndrome 5 MIM#616938\nReview for gene: SMARCE1 was set to RED\nAdded comment: PMID: 30548424 - Proband with a de novo splice variant (proven to result in inframe exon skipping), presented with seizures, hypotonia, GDD, ataxia etc.\r\n\r\nNo other literature showing SNVs in this gene and epilepsy/seizures. Gene was listed in the Oliver review \nSources: Literature",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2024-02-02T10:13:17.858761+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2211",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SLC19A3 as ready",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-02-02T10:13:17.848718+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2211",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: slc19a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-02-02T10:13:08.603649+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2211",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SLC19A3 as Green List (high evidence)",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-02-02T10:13:08.591546+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2211",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: slc19a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-02-02T10:11:29.614265+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2210",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SLC19A3 was added\ngene: SLC19A3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC19A3 were set to PMID: 37670342; 23269594; 26863430\nPhenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483\nReview for gene: SLC19A3 was set to GREEN\nAdded comment: Seizures noted in OMIM\r\n\r\nPMID: 37670342 - 1/21 probands had absence seizure on Depakene. Hom missense but many families in this paper had the same variant (likely founder).\r\n\r\nPMID: 23269594 - 8/10 patients had acute-subacute onset consisting of ataxia, seizures, and encephalopathy. All probands had the same recurring missense described in PMID: 37670342.\r\n\r\nPMID: 26863430 - two siblings with early-onset encephalopathy dystonia and epilepsy, \nSources: Literature",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:57:43.887196+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SHANK3 as ready",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:57:43.878020+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:57:25.883882+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SHANK3 as Green List (high evidence)",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:57:25.873382+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:57:03.888597+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SHANK3 as Green List (high evidence)",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:57:03.872148+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:56:30.957438+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2208",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SHANK3 was added\ngene: SHANK3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SHANK3 were set to PMID: 37655421\nPhenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome MIM#606232\nReview for gene: SHANK3 was set to GREEN\nAdded comment: Seizures listed in OMIM, SHANK3 is often involved in a 22q13.3 deletion\r\n\r\nPMID: 37655421 - Proband with a PTC, presenting with epileptic seizures, impaired speech development\r\n\r\nPMID: 36967043 - large review, considered patients who had the 22q13.3 deletion as well as SNVs. Prevalence of epilepsy ranged from 17-70% in one study, 27% in another study and 41% in another. Seizure type was highly variable, ranging from atypical absent, tonic, atonic, tonic-clonic and myoclonic. \nSources: Literature",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:48:36.392381+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2207",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SERAC1 as ready",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:48:36.380097+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2207",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: serac1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:48:29.614611+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2207",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SERAC1 as Amber List (moderate evidence)",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:48:29.595005+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2207",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: serac1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:45:53.796283+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2206",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SERAC1 was added\ngene: SERAC1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERAC1 were set to PMID: 27186703; 24997715\nPhenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome\tMIM#614739\nReview for gene: SERAC1 was set to AMBER\nAdded comment: Seizures (less common) listed in OMIM\r\n\r\nPMID: 27186703 - two sibling patients who presented with 3-methylglutaconic acid and 3-methylglutaric aciduria, microcephaly, growth retardation, dysmorphic features, severe sensorineural deafness, progressive spasticity, dystonia, seizures and basal ganglia involvement. \r\n\r\nPMID: 24997715 - Proband with biallelic PTCs, presented with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI, as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.\r\n\r\nGeneReviews - 38% of patients have seizures (febrile, myoclonic) \nSources: Literature",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:44:12.335339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPC were changed from Neurodevelopmental disorder (MONDO:0700092), HNRNPC-related to Intellectual developmental disorder-74, MIM#620688",
"entity_name": "HNRNPC",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:43:46.402475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HNRNPC: Changed phenotypes: intellectual developmental disorder-74, MIM#620688",
"entity_name": "HNRNPC",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:43:30.324899+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPC were changed from Neurodevelopmental disorder (MONDO:0700092), HNRNPC-related to intellectual developmental disorder-74, MIM#620688",
"entity_name": "HNRNPC",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:42:55.325847+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HNRNPC: Changed phenotypes: intellectual developmental disorder-74, MIM#620688",
"entity_name": "HNRNPC",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:33:14.398161+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2205",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SCN10A as ready",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:33:14.386727+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2205",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: scn10a has been classified as Red List (Low Evidence).",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:32:50.919772+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2205",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SCN10A was added\ngene: SCN10A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SCN10A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCN10A were set to PMID: 28078312\nPhenotypes for gene: SCN10A were set to Episodic pain syndrome, familial, 2\tMIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related\nReview for gene: SCN10A was set to RED\nAdded comment: PMID: 28078312 - three families (2x biallelic missense, hom PTC).\r\n- family 1 had progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures \r\n- family 2 had neonatal hypotonia, bradycardia, and recurrent seizures\r\n- family 3 had febrile infection-related epilepsy syndrome (FIRES) \r\n- Additional 5 probands reported with biallelic missense and Lennox–Gastaut syndrome, epilepsy databases and autism databases\r\n- Het carriers of PTC were NOT affected, but LOF is NOT a known mechanism of AD disease\r\n\r\nRed for biallelic disease - none of the missense had functional studies to support pathogenicity. More evidence needed. \nSources: Literature",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:23:06.346780+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2204",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SACS as Amber List (moderate evidence)",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:23:06.335429+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2204",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: sacs has been classified as Amber List (Moderate Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:04:35.571332+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2203",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SACS as Amber List (moderate evidence)",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:04:35.562779+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2203",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: sacs has been classified as Amber List (Moderate Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:04:15.897208+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2202",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SACS as ready",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:04:15.883825+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2202",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: sacs has been classified as Red List (Low Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-02-02T09:03:56.837428+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2202",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SACS were set to PMID: 27871429; 35386405\nPhenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550\nReview for gene: SACS was set to AMBER\nAdded comment: PMID: 27871429 - two consanguinous families (8 affecteds) with homozygous PTCs. Epilepsy observed for all 4/4 members of a single family. Authors note seizures may be present in 10% of SACS patients\r\n\r\nPMID: 35386405 - Review of chinese patients, found 4/27 patients had epilepsy (one was questionable) \nSources: Literature",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-02-02T08:51:44.644914+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2201",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TMEM5 as ready",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2024-02-02T08:51:44.636431+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2201",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tmem5 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2024-02-02T08:50:48.151272+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2201",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TMEM5 was added\ngene: TMEM5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 MIM#615041\nReview for gene: TMEM5 was set to RED\nAdded comment: Alt, gene name RXYLT1 \r\n\r\nNo literature showing SNVs in this gene and epilepsy/seizures. Gene was listed in the Oliver review \nSources: Literature",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2024-02-01T18:01:46.171683+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR44 as ready",
"entity_name": "WDR44",
"entity_type": "gene"
},
{
"created": "2024-02-01T18:01:46.126600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr44 has been classified as Green List (High Evidence).",
"entity_name": "WDR44",
"entity_type": "gene"
},
{
"created": "2024-02-01T18:01:39.361687+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR44 as Green List (high evidence)",
"entity_name": "WDR44",
"entity_type": "gene"
},
{
"created": "2024-02-01T18:01:39.352651+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr44 has been classified as Green List (High Evidence).",
"entity_name": "WDR44",
"entity_type": "gene"
},
{
"created": "2024-02-01T17:41:41.296755+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR44 was added\ngene: WDR44 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: WDR44 were set to 38191484\nPhenotypes for gene: WDR44 were set to Ciliopathy, MONDO:0005308, WDR44-related\nReview for gene: WDR44 was set to GREEN\nAdded comment: 11 male patients with 6 missense and 1 nonsense variant in WDR44 displaying a wide range of cognitive impairment and variable congenital anomalies associated with primary cilium dysfunction. All patients had learning difficulties with 8 labelled as intellectually disabled (mild-moderate). Other clinical features included anomalies of craniofacial, musculoskeletal, brain, renal and cardiac development.\r\nWDR44 is a negative regulator of ciliogenesis. Increased binding is hypothesised to underlie the pathogenicity of WDR44 variants identified in this cohort. Functional data supported impaired ciliogenesis initiation in patient fibroblasts and a zebrafish model. A zebrafish model recapitulated the human phenotype when morphants expressed WDR44 L668S, D669N, S764F, G782C, H839R, and R733* variants. Of note, D648G or N840S did not recapitulate the phenotype in the zebrafish model.\r\nThe studies supported a GoF mechanism, but the authors could not rule out that LoF of WDR44 contributes to the ciliopathy-like phenotype observed, because protein expression data was only available for a limited number of patients. \nSources: Literature",
"entity_name": "WDR44",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:54:28.520941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIC1 were changed from Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD to Cleft lip/palate MONDO:0016044, RIC1-related; Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:54:03.667448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIC1 were set to 31932796",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:53:39.449661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:52:54.549174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIC1 as Green List (high evidence)",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:52:54.539892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ric1 has been classified as Green List (High Evidence).",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:51:30.431893+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:51:12.694707+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYMK as Green List (high evidence)",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:51:12.666479+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mymk has been classified as Green List (High Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:50:58.385155+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYMK: Added comment: Cleft palate, micrognathia, microcephaly, talipes are features detectable on fetal ultrasound.; Changed rating: GREEN",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:49:41.259046+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYMK as ready",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:49:41.244588+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mymk has been classified as Green List (High Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:49:36.111296+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome\t254940 to Carey-Fineman-Ziter syndrome, MIM# 254940",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:49:15.093765+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carey-Fineman-Ziter syndrome, MIM# 254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:47:48.919725+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO11 as ready",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:47:48.909050+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:47:38.405338+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXO11: Rating: AMBER; Mode of pathogenicity: None; Publications: 30057029; Phenotypes: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:45:44.926044+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP2 as ready",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:45:44.917440+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp2 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:45:38.884128+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP2 were changed from Speech-language disorder-1, 602081 to Speech-language disorder-1, MIM# 602081",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:45:27.121926+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP2 as Red List (low evidence)",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:45:27.111587+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp2 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-02-01T15:45:17.024534+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXP2: Rating: RED; Mode of pathogenicity: None; Publications: 36328423; Phenotypes: Speech-language disorder-1, MIM# 602081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:50:05.529720+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACACA as ready",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:50:05.518137+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acaca has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:49:56.674769+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACACA as Amber List (moderate evidence)",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:49:56.663903+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acaca has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:49:22.710329+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACACA was added\ngene: ACACA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ACACA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACACA were set to 34552920; 10677481; 16717184; 36709796\nPhenotypes for gene: ACACA were set to Acetyl-CoA carboxylase deficiency, MIM# 613933\nReview for gene: ACACA was set to AMBER\nAdded comment: Two families with molecular testing, missense variants, supportive functional data. \nSources: Literature",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:45:37.847253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACACA as Amber List (moderate evidence)",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:45:37.834272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acaca has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:43:37.786493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACACA: Rating: AMBER; Mode of pathogenicity: None; Publications: 36709796; Phenotypes: Acetyl-CoA carboxylase deficiency, MIM# 613933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:41:16.655788+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO1 were changed from Moyamoya disease, MONDO:0016820, ANO1 related to Moyamoya disease 7, MIM# 620687",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:40:59.040952+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Moyamoya disease 7, MIM# 620687; Mode of inheritance: None",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:40:43.075445+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO1 were changed from moyamoya; cerebral arteriopathy; stroke; MONDO:0016820 to Moyamoya disease 7, MIM# 620687",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:40:22.055987+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Moyamoya disease 7, MIM# 620687; Mode of inheritance: None",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:39:19.716232+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO1 were changed from Intestinal dysmotility syndrome, MIM# 620045; Moyamoya disease, MONDO:0016820, ANO1 related to Intestinal dysmotility syndrome, MIM# 620045; Moyamoya disease 7, MIM# 620687",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:38:45.500756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANO1: Changed phenotypes: Intestinal dysmotility syndrome, MIM# 620045, Moyamoya disease 7, MIM# 620687",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:24:24.535752+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP160 as Green List (high evidence)",
"entity_name": "NUP160",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:24:24.514257+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup160 has been classified as Green List (High Evidence).",
"entity_name": "NUP160",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:23:59.643289+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NUP160",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:23:37.543151+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUP160: Changed rating: GREEN",
"entity_name": "NUP160",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:23:30.072521+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NUP160: PMID: 30910934 1 x patient with familial steroid-resistant nephrotic syndrome (SRNS) and FSGS carried novel compound-heterozygous variants in NUP160 (R1173X and E803K).\r\n\r\nSilencing of Drosophila NUP160 specifically in nephrocytes (fly renal cells) led to functional abnormalities, reduced cell size and nuclear volume, and disorganized nuclear membrane structure. These defects were completely rescued by the expression of the wild-type human NUP160 gene in nephrocytes.\r\n\r\nPMID: 30179222 1 x family (2 sibs) with compound het variants E803K and Arg910X. 1 Sib had SRNS and FSGS, the other had proteinuria.\r\n\r\nPMID: 33456446 1 x family (2 sibs) with SRNS and chronic kidney disease. Homozygous for NUP160 c.1179+5G>A, confirmed by RT-PCR to cause abnormal splicing [r.1102_1179del;p.(Phe368_Gln393del)]. These individuals also had additional neurological features of intellectual disability and epilepsy.\r\n\r\nPMID: 38224683 Generated a podocyte-specific Nup160 knockout (Nup160podKO) mouse model using CRISPR/Cas9 and Cre/loxP technologies. They showed that Nup160podKO mice develop typical signs of NS.",
"entity_name": "NUP160",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:23:29.797046+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUP160: Added comment: PMID: 30910934 1 x patient with familial steroid-resistant nephrotic syndrome (SRNS) and FSGS carried novel compound-heterozygous variants in NUP160 (R1173X and E803K).\r\n\r\nSilencing of Drosophila NUP160 specifically in nephrocytes (fly renal cells) led to functional abnormalities, reduced cell size and nuclear volume, and disorganized nuclear membrane structure. These defects were completely rescued by the expression of the wild-type human NUP160 gene in nephrocytes.\r\n\r\nPMID: 30179222 1 x family (2 sibs) with compound het variants E803K and Arg910X. 1 Sib had SRNS and FSGS, the other had proteinuria.\r\n\r\nPMID: 33456446 1 x family (2 sibs) with SRNS and chronic kidney disease. Homozygous for NUP160 c.1179+5G>A, confirmed by RT-PCR to cause abnormal splicing [r.1102_1179del;p.(Phe368_Gln393del)]. These individuals also had additional neurological features of intellectual disability and epilepsy.\r\n\r\nPMID: 38224683 Generated a podocyte-specific Nup160 knockout (Nup160podKO) mouse model using CRISPR/Cas9 and Cre/loxP technologies. They showed that Nup160podKO mice develop typical signs of NS.; Changed publications: 30910934, 30179222, 33456446, 38224683",
"entity_name": "NUP160",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:22:41.814361+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP160 were set to 30179222",
"entity_name": "NUP160",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:21:04.479331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP160 as Green List (high evidence)",
"entity_name": "NUP160",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:21:04.468905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup160 has been classified as Green List (High Evidence).",
"entity_name": "NUP160",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:17:58.104762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1513",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "changed review comment from: PMID: 30910934 1 x patient with familial steroid-resistant nephrotic syndrome (SRNS) and FSGS carried novel compound-heterozygous variants in NUP160 (R1173X and E803K). Silencing of Drosophila NUP160 specifically in nephrocytes (fly renal cells) led to functional abnormalities, reduced cell size and nuclear volume, and disorganized nuclear membrane structure. These defects were completely rescued by the expression of the wild-type human NUP160 gene in nephrocytes.\r\n\r\nPMID: 30179222 1 x family (2 sibs) with compound het variants E803K and Arg910X. 1 Sib had SRNS and FSGS, the other had proteinuria.\r\n\r\nPMID: 33456446 1 x family (2 sibs) with steroid-resistant nephrotic syndrome and chronic kidney disease. Homozygous for NUP160 c.1179+5G>A, confirmed by RT-PCR to cause abnormal splicing [r.1102_1179del;p.(Phe368_Gln393del)]. These individuals also had additional neurological features of intellectual disability and epilepsy.\r\n\r\nPMID: 38224683 Generated a podocyte-specific Nup160 knockout (Nup160podKO) mouse mode using CRISPR/Cas9 and Cre/loxP technologies. They showed that Nup160podKO mice develop typical signs of NS.; to: PMID: 30910934 1 x patient with familial steroid-resistant nephrotic syndrome (SRNS) and FSGS carried novel compound-heterozygous variants in NUP160 (R1173X and E803K). Silencing of Drosophila NUP160 specifically in nephrocytes (fly renal cells) led to functional abnormalities, reduced cell size and nuclear volume, and disorganized nuclear membrane structure. These defects were completely rescued by the expression of the wild-type human NUP160 gene in nephrocytes.\r\n\r\nPMID: 30179222 1 x family (2 sibs) with compound het variants E803K and Arg910X. 1 Sib had SRNS and FSGS, the other had proteinuria.\r\n\r\nPMID: 33456446 1 x family (2 sibs) with SRNS and chronic kidney disease. Homozygous for NUP160 c.1179+5G>A, confirmed by RT-PCR to cause abnormal splicing [r.1102_1179del;p.(Phe368_Gln393del)]. These individuals also had additional neurological features of intellectual disability and epilepsy.\r\n\r\nPMID: 38224683 Generated a podocyte-specific Nup160 knockout (Nup160podKO) mouse model using CRISPR/Cas9 and Cre/loxP technologies. They showed that Nup160podKO mice develop typical signs of NS.",
"entity_name": "NUP160",
"entity_type": "gene"
},
{
"created": "2024-02-01T12:11:58.277586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1513",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: NUP160: Rating: GREEN; Mode of pathogenicity: None; Publications: 30910934, 30179222, 33456446, 38224683; Phenotypes: Steroid-resistant nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP160",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:57:37.954420+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SP9 as ready",
"entity_name": "SP9",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:57:37.943024+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sp9 has been classified as Green List (High Evidence).",
"entity_name": "SP9",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:56:40.947666+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SP9 as Green List (high evidence)",
"entity_name": "SP9",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:56:40.935867+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sp9 has been classified as Green List (High Evidence).",
"entity_name": "SP9",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:55:34.369199+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5683",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: SP9 was added\ngene: SP9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SP9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SP9 were set to PMID: 38288683\nPhenotypes for gene: SP9 were set to neurodevelopmental disorder MONDO:0700092\nReview for gene: SP9 was set to GREEN\nAdded comment: PMID: 38288683: reported 5 unrelated patients with de novo heterozygous variants (missense and PTV) in SP9 gene. In silico and in vitro studies suggested a novel form of interneuronopathy with variable severity depending on the presence of loss or gain of function variants. Patients with loss-of-function variants had ID, ASD, and epilepsy, whereas missense variants in the second C2H2 binding domain result in hypomorphic and neomorphic DNA binding functions that cause severe epileptic encephalopathy. The author suggested a novel form of interneuronopathy with variable severity depending on the presence of loss or gain of function variants. \nSources: Literature",
"entity_name": "SP9",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:54:30.848095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SP9 as ready",
"entity_name": "SP9",
"entity_type": "gene"
}
]
}