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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=578",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=576",
"results": [
{
"created": "2023-07-24T19:17:39.461037+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GSN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:11:17.531531+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBE1 as ready",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:11:17.517163+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbe1 has been classified as Green List (High Evidence).",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:11:10.020333+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBE1 were changed from Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI to Polyglucosan body disease, adult form MIM#263570; Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:10:47.038507+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GBE1 were set to ",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:09:23.031158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMVK were changed from Porokeratosis 1, multiple types, MIM# 175800 to Porokeratosis 1, multiple types, MIM# 175800; Autoinflammatory syndrome, MONDO:0019751, PMVK-related",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:08:50.148834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMVK were set to 26202976",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:08:27.771240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMVK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:08:08.445883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Association with auto inflammatory syndrome:\r\n\r\nFive-year-old girl with recurring hyperinflammatory episodes initially presenting at 9mo with fever, arthritis, aphthous stomatitis and maculopapular rash with homozygous variant in PMVK p.Val131Ala (NM_006556.4: c.392T>C) with clinical overlap with MVK deficiency. Supportive functional data. Second patient, 6yo boy with compound heterozygous c.329G >A (p. Arg110Gln) and c.316G >A (p. Val106Met) mutations in trans configuration with similar phenotype.; to: Association with auto inflammatory syndrome:\r\n\r\nFive-year-old girl with recurring hyperinflammatory episodes initially presenting at 9mo with fever, arthritis, aphthous stomatitis and maculopapular rash with homozygous variant in PMVK p.Val131Ala (NM_006556.4: c.392T>C) with clinical overlap with MVK deficiency. Supportive functional data. Second patient, 6yo boy with compound heterozygous c.329G >A (p. Arg110Gln) and c.316G >A (p. Val106Met) mutations in trans configuration with similar phenotype.\r\n\r\nAmber for bi-allelic disease association.",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:07:47.527368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PMVK: Added comment: Association with auto inflammatory syndrome:\r\n\r\nFive-year-old girl with recurring hyperinflammatory episodes initially presenting at 9mo with fever, arthritis, aphthous stomatitis and maculopapular rash with homozygous variant in PMVK p.Val131Ala (NM_006556.4: c.392T>C) with clinical overlap with MVK deficiency. Supportive functional data. Second patient, 6yo boy with compound heterozygous c.329G >A (p. Arg110Gln) and c.316G >A (p. Val106Met) mutations in trans configuration with similar phenotype.; Changed publications: 26202976, 37364720, 36410683; Changed phenotypes: Porokeratosis 1, multiple types, MIM# 175800, Autoinflammatory syndrome, MONDO:0019751, PMVK-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:06:55.187347+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMVK were changed from Autoinflammation to Autoinflammatory syndrome, MONDO:0019751, PMVK-related",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:06:11.634440+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMVK as Amber List (moderate evidence)",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:06:11.623775+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmvk has been classified as Amber List (Moderate Evidence).",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:03:56.822645+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFRSF9 as ready",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:03:56.811081+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf9 has been classified as Green List (High Evidence).",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:03:51.380959+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFRSF9 were changed from EBV associated lymphoproliferative disease to Immunodeficiency 109 with lymphoproliferation, MIM# 620282",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:02:59.682536+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNFRSF9 as Green List (high evidence)",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:02:59.671660+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf9 has been classified as Green List (High Evidence).",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:01:21.938800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPK3 as ready",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:01:21.931263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:00:59.484373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIPK3 as Amber List (moderate evidence)",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:00:59.476354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2023-07-24T19:00:41.960807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIPK3 was added\ngene: RIPK3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: RIPK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIPK3 were set to 37083451\nPhenotypes for gene: RIPK3 were set to Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related; Recurrent HSV encephalitis\nReview for gene: RIPK3 was set to AMBER\nAdded comment: Single female patient with independent episodes of HSE at 6 and 17 months of age and with autoimmune encephalitis 1 month after the second episode of HSE with two heterozygous mutations of RIPK3 predicted to be loss of function (pLOF): p. Arg422* (c.1264 C > T, MAF 0.001568, CADD 35) and p. Pro493fs9* (c.1475 C > CC, MAF 0.002611, CADD 24.2). Extensive supportive functional data including RIPK3 knockout human pluripotent stem cell–derived cortical neurons. \nSources: Expert Review",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:43:09.725336+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPK3 as ready",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:43:09.714176+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:43:04.005019+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIPK3 were changed from Recurrent HSV encephalitis to Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related; Recurrent HSV encephalitis",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:40:17.425395+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIPK3 as Amber List (moderate evidence)",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:40:17.417872+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:38:03.271062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SMAD1.",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:36:11.477616+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA2 as ready",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:36:11.467059+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba2 has been classified as Green List (High Evidence).",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:36:04.869296+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GBA2 were set to ",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:35:29.048042+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC3 as ready",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:35:29.039208+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:35:25.206007+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC3 as Amber List (moderate evidence)",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:35:25.191083+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:34:47.943650+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:34:47.913689+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:34:27.623471+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC8 were changed from Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities to Cockayne syndrome, type A MIM#216400",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:34:01.416888+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:27:58.863828+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SART3 as Green List (high evidence)",
"entity_name": "SART3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:27:58.846766+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sart3 has been classified as Green List (High Evidence).",
"entity_name": "SART3",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:24:02.365010+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERI1 as ready",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:24:02.356655+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Green List (High Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:23:52.778678+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERI1 as Green List (high evidence)",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:23:52.766044+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Green List (High Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:23:39.584418+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERI1 was added\ngene: ERI1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ERI1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ERI1 were set to 37352860\nPhenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510)\nReview for gene: ERI1 was set to GREEN\nAdded comment: PMID: 37352860 - 8 individuals from 7 unrelated families\r\n- Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly\r\n- Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly\r\n- Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive\r\n\r\n- Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells\r\n- K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense\r\n\r\nMore severe phenotype hypothesised due to \"exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy\r\nwith ERI1, staying bound to those RNA molecules\" \nSources: Literature",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:17:50.595047+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:DRG1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-07-24T18:14:21.831170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO1 were changed from Intestinal dysmotility syndrome, MIM# 620045; Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features to Intestinal dysmotility syndrome, MIM# 620045; Moyamoya disease, MONDO:0016820, ANO1 related",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:13:58.536757+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANO1 were set to 32487539",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:13:28.029695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:13:07.583820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANO1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:12:51.653406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANO1: Added comment: PMID 37253099: screening analysis of Moyamoya disease (MMD) cohort revealed 8 individuals with variants in the ANO1 gene. Two families had the same rare variant p.Met658Val. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation. Amber rating due to somewhat conflicting segregation and functional data presented.; Changed publications: 37253099; Changed phenotypes: Intestinal dysmotility syndrome, MIM# 620045, Moyamoya disease, MONDO:0016820, ANO1 related",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:10:16.693904+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:10:16.686435+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:10:13.536502+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6 were changed from Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities to Cockayne syndrome, type B MIM#133540",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:09:53.906770+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC6 were set to ",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:09:28.763887+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25453614; Phenotypes: Cockayne syndrome, type B MIM#133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:08:00.074821+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALC as ready",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:08:00.062992+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galc has been classified as Amber List (Moderate Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:07:57.817052+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALC were changed from Galactosylceramide beta-galactosidase deficiency; HMSN to Krabbe Disease MIM#245200",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:07:38.864543+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALC were set to ",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:07:17.473005+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALC as Amber List (moderate evidence)",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:07:17.457113+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galc has been classified as Amber List (Moderate Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:06:28.972414+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM126A as ready",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:06:28.967144+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Peripheral and central involvement reported.",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:06:28.924114+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam126a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:06:15.973909+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM126A as Amber List (moderate evidence)",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:06:15.966289+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam126a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:05:36.897172+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM126A as Red List (low evidence)",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:05:36.884576+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam126a has been classified as Red List (Low Evidence).",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:04:59.113164+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFYVE26 as ready",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:04:59.102164+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfyve26 has been classified as Green List (High Evidence).",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:04:56.425522+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFYVE26 were changed from HMSN; Spastic paraplegia 15 to Spastic paraplegia 15 MIM#270700",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-07-24T18:04:38.063566+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZFYVE26 were set to ",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-07-24T17:42:17.984314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.992",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CYHR1 as Amber List (moderate evidence)",
"entity_name": "CYHR1",
"entity_type": "gene"
},
{
"created": "2023-07-24T17:42:17.977072+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.992",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cyhr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYHR1",
"entity_type": "gene"
},
{
"created": "2023-07-24T17:41:58.212085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.991",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CYHR1 was added\ngene: CYHR1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: CYHR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYHR1 were set to Neurodevelopmental disorder and microcephaly\nReview for gene: CYHR1 was set to AMBER\nAdded comment: ESHG 2023:\r\n5 individuals from 3 families with biallelic LOF variants in CYHR1 (aka ZTRAF1). Presentation with microcephaly, hypotonia, DD, and ID. Expression studies showed mislocalisation of CYHR1. Mutant fibroblasts showed increased lysosomal markers and upregulated lysosomal proteins, leading to impaired autophagy. Zebrafish KO however did not show a phenotype. \nSources: Other",
"entity_name": "CYHR1",
"entity_type": "gene"
},
{
"created": "2023-07-24T17:41:47.862061+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.211",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CYHR1 as Amber List (moderate evidence)",
"entity_name": "CYHR1",
"entity_type": "gene"
},
{
"created": "2023-07-24T17:41:47.848286+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.211",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cyhr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYHR1",
"entity_type": "gene"
},
{
"created": "2023-07-24T17:41:43.402141+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5272",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CYHR1 as Amber List (moderate evidence)",
"entity_name": "CYHR1",
"entity_type": "gene"
},
{
"created": "2023-07-24T17:41:43.393441+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5272",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cyhr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYHR1",
"entity_type": "gene"
},
{
"created": "2023-07-24T17:41:11.336124+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.210",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CYHR1 was added\ngene: CYHR1 was added to Microcephaly. Sources: Other\nMode of inheritance for gene: CYHR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYHR1 were set to Neurodevelopmental disorder and microcephaly\nReview for gene: CYHR1 was set to AMBER\ngene: CYHR1 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n5 individuals from 3 families with biallelic LOF variants in CYHR1 (aka ZTRAF1). Presentation with microcephaly, hypotonia, DD, and ID. Expression studies showed mislocalisation of CYHR1. Mutant fibroblasts showed increased lysosomal markers and upregulated lysosomal proteins, leading to impaired autophagy. Zebrafish KO however did not show a phenotype. \nSources: Other",
"entity_name": "CYHR1",
"entity_type": "gene"
},
{
"created": "2023-07-24T17:41:04.912236+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5271",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CYHR1 was added\ngene: CYHR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: CYHR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYHR1 were set to Neurodevelopmental disorder and microcephaly\nReview for gene: CYHR1 was set to AMBER\ngene: CYHR1 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n5 individuals from 3 families with biallelic LOF variants in CYHR1 (aka ZTRAF1). Presentation with microcephaly, hypotonia, DD, and ID. Expression studies showed mislocalisation of CYHR1. Mutant fibroblasts showed increased lysosomal markers and upregulated lysosomal proteins, leading to impaired autophagy. Zebrafish KO however did not show a phenotype. \nSources: Other",
"entity_name": "CYHR1",
"entity_type": "gene"
},
{
"created": "2023-07-24T17:06:45.109971+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: SCN1B was added\ngene: SCN1B was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: SCN1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCN1B were set to 36291443; 31709768\nPhenotypes for gene: SCN1B were set to Developmental and epileptic encephalopathy 52, MIM#617350\nReview for gene: SCN1B was set to AMBER\nAdded comment: Bi-allelic variants cause EE/ID. Heterozygous variants linked to cardiac phenotypes and to GEFS+ \nSources: Literature",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:39:53.753235+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.93",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NAA60 as Green List (high evidence)",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:39:53.745579+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.93",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: naa60 has been classified as Green List (High Evidence).",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:39:25.345956+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.93",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NAA60 as Green List (high evidence)",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:39:25.330543+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.93",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: naa60 has been classified as Green List (High Evidence).",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:39:15.457679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.990",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NAA60 as Green List (high evidence)",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:39:15.447653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.990",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: naa60 has been classified as Green List (High Evidence).",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:38:51.768413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.989",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NAA60: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary familial brain calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:38:31.245150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.989",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:38:24.878059+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.92",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NAA60: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary familial brain calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:37:30.788194+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.92",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:37:29.262662+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.989",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NAA60 was added\ngene: NAA60 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAA60 were set to Basal ganglia calcification\nReview for gene: NAA60 was set to GREEN\ngene: NAA60 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n10 individuals from 7 families with biallelic variants in NAA60 (missense and framshift).\r\nAll with primary brain calcification - 4/10 childhood onset (DD, ID), 6/10 adult onset (cerebellar and pyramidal dysfunction, dystonia, parkinsonism, cognitive impairment, psychiatric manifestations).\r\n\r\nNAA60 catalyses N-terminal acetylation of transmembrane proteins and localises to Golgi apparatus. In vitro assay of variants showed reduced capacity of Nt acetylation. Fibroblast studies showed significantly reduced levels of phosphate importer (SLC20A2). Loss of function variants in SLC20A2 (~50% of PFBC cases) lead to increased extracellular phosphate (which is thought to lead to calcium deposits in brain). \nSources: Other",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T15:36:35.844503+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.92",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NAA60 was added\ngene: NAA60 was added to Brain Calcification. Sources: Other\nMode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAA60 were set to Basal ganglia calcification\nReview for gene: NAA60 was set to GREEN\ngene: NAA60 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n10 individuals from 7 families with biallelic variants in NAA60 (missense and framshift).\r\nAll with primary brain calcification - 4/10 childhood onset (DD, ID), 6/10 adult onset (cerebellar and pyramidal dysfunction, dystonia, parkinsonism, cognitive impairment, psychiatric manifestations).\r\n\r\nNAA60 catalyses N-terminal acetylation of transmembrane proteins and localises to Golgi apparatus. In vitro assay of variants showed reduced capacity of Nt acetylation. Fibroblast studies showed significantly reduced levels of phosphate importer (SLC20A2). Loss of function variants in SLC20A2 (~50% of PFBC cases) lead to increased extracellular phosphate (which is thought to lead to calcium deposits in brain). \nSources: Other",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:57:49.886685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.988",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: POPDC2 as Green List (high evidence)",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:57:49.875412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.988",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: popdc2 has been classified as Green List (High Evidence).",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:57:33.669757+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.987",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: POPDC2 was added\ngene: POPDC2 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POPDC2 were set to Sinus node dysfunction\nReview for gene: POPDC2 was set to GREEN\ngene: POPDC2 was marked as current diagnostic\nAdded comment: ESHG 2023: \r\n3 families with 7 affected with sinus node dysfunction (bradycardia) and AV block (2/7 HCM). \r\n\r\n3 x HMZ variants found in POPDC2 (2 x missense, 1 x indel). Variants predicted to diminish cAMP binding of POPDC2, and shown to disrupt regulation of TREK1 channels (lowering of outward K+ current). \r\n\r\nPOPDC2 is highly expressed in cardiac myocytes, sinoatrial node, and atrioventricular node. Knockdown in zebrafish leads to AV block, and knockout in mice leads to sinus node dysfunction. Sources: Other \nSources: Other",
"entity_name": "POPDC2",
"entity_type": "gene"
}
]
}