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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=985",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=983",
"results": [
{
"created": "2022-02-21T15:40:27.278785+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3722",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TRPS1 as Red List (low evidence)",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2022-02-21T15:40:27.269757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3722",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trps1 has been classified as Red List (Low Evidence).",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2022-02-21T15:40:15.877603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TRPS1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 10615131, 11950061, 11112658; Phenotypes: Trichorhinophalangeal syndrome, type I, OMIM #190350, Trichorhinophalangeal syndrome, type III, OMIM #190351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2022-02-21T15:36:45.391764+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11011",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33230783, 28358460; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-02-21T15:33:25.440127+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12389028, 27666369; Phenotypes: Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410, Kenny-Caffey syndrome, type 1, OMIM #244460, Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-02-21T15:33:17.597725+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SLC26A7 was added\ngene: SLC26A7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC26A7 were set to 34780050; 32486989; 31372509; 30333321; 29546359\nPhenotypes for gene: SLC26A7 were set to Thyroid dyshormogenesis - no OMIM gene disease association\nReview for gene: SLC26A7 was set to GREEN\nAdded comment: Biallelic variants associated with congenital hypothyroidism secondary to thyroid dyshormogenesis. PMID 32486989 report an affected female diagnosed with goitre D4 of life. \nSources: Literature",
"entity_name": "SLC26A7",
"entity_type": "gene"
},
{
"created": "2022-02-21T15:23:10.724042+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11011",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301686; Phenotypes: Cleidocranial dysplasia MIM#119600, Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600, Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600, Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T15:18:56.008849+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 11781871, 12325024,,; Phenotypes: Peroxisome biogenesis disorder 9B, OMIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2022-02-21T15:17:54.231144+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301686; Phenotypes: Cleidocranial dysplasia MIM#119600, Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T15:15:26.954682+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SLC26A4 was added\ngene: SLC26A4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A4 were set to Pendred syndrome - MIM#274600\nReview for gene: SLC26A4 was set to AMBER\nAdded comment: Known association with congenital hypothyroidism and bilateral sensorineural hearing loss. If goitre present, manifests later in childhood. No antenatal phenotype reported. \nSources: Literature",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-02-21T15:06:50.636781+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23329068, 20301779, 29296694; Phenotypes: Dyskeratosis congenita, autosomal recessive 5 MIM#615190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2022-02-21T15:04:46.292444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PROP1 was added\ngene: PROP1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PROP1 were set to 15941866; 11549703; 20301521; 32415500\nPhenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2- #262600\nReview for gene: PROP1 was set to AMBER\nAdded comment: Biallelic variants associated with panhypopituitarism. Features include central congenital hypothyroidism and hypogonadotrophic hypogonadism including micropenis. Diagnosed postnatally in infancy or early childhood due to growth failure and failure to thrive. Antenatal diagnosis not reported, although severe micropenis due to other disorders has been detected antenatally. \nSources: Literature",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2022-02-21T14:52:13.885705+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11011",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741716; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T14:51:26.703341+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: None; Publications: 24741716; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T14:40:52.580037+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301520; Phenotypes: Coffin-Lowry syndrome MIM#303600, Intellectual developmental disorder, X-linked 19 MIM#300844; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2022-02-21T14:22:37.895634+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932186, 10932187, 10986040, 19461659, 20301418; Phenotypes: Brachydactyly, type B1 MIM#113000, Robinow syndrome, autosomal recessive MIM#268310; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2022-02-21T14:15:31.813077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31349848, 19525954, 27091087, 29336640, 18545798, 15851732; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly MIM#612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2022-02-21T14:15:28.929211+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11011",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31349848, 19525954, 27091087, 29336640, 18545798, 15851732; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly MIM#612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2022-02-21T13:57:46.131341+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.283",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "gene: C17orf53 was added\ngene: C17orf53 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: C17orf53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf53 were set to PMID: 34707299; PMID: 31467087\nPhenotypes for gene: C17orf53 were set to Primary ovarian insufficiency\nPenetrance for gene: C17orf53 were set to Complete\nReview for gene: C17orf53 was set to AMBER\nAdded comment: PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency\r\nPMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells. \nSources: Literature",
"entity_name": "C17orf53",
"entity_type": "gene"
},
{
"created": "2022-02-21T13:49:46.329776+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.283",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34647195, 32399598; Phenotypes: Perrault syndrome, primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFAM",
"entity_type": "gene"
},
{
"created": "2022-02-21T13:45:05.744573+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 24183309, 23322642; Phenotypes: Aicardi-Goutieres syndrome 3 (MIM# 610329), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2022-02-21T13:37:31.100901+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.283",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "gene: TFAM was added\ngene: TFAM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFAM were set to PMID: 34647195\nPenetrance for gene: TFAM were set to Complete",
"entity_name": "TFAM",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:58:31.292888+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2E as ready",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:58:31.281850+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2e has been classified as Amber List (Moderate Evidence).",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:58:27.433689+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY; O'Donnell-Luria-Rodan syndrome, 618512 to O'Donnell-Luria-Rodan syndrome MIM#618512",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:58:06.683314+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2E were set to ",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:57:46.241940+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2E as Amber List (moderate evidence)",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:57:46.229866+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2e has been classified as Amber List (Moderate Evidence).",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:57:34.101367+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 38 individuals from 36 families reported. Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. Additional common features include autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.; to: Micro/macrocephaly reported, see below, age of onset uncertain. Non-specific brain abnormalities also.\r\n\r\n38 individuals from 36 families reported. Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. Additional common features include autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:56:49.823723+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KMT2E: Changed rating: AMBER",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:55:49.407345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ3 as ready",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:55:49.396359+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq3 has been classified as Red List (Low Evidence).",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:55:45.713174+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ3 were changed from KCNQ3 syndrome to Seizures, benign neonatal, 2, MIM# 121201",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:55:32.825590+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ3 were set to ",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:55:17.532793+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:55:03.389740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability has been reported as a feature.; to: Clinical presentation is typically post-natal.",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:54:49.226673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNQ3: Changed rating: RED",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:54:21.228720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ1 as ready",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:54:21.211636+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:54:10.698110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ1 were changed from JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 to Long QT syndrome 1, 192500",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:53:57.887349+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ1 were set to ",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:53:45.659866+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:53:35.176303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNQ1 as Green List (high evidence)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:53:35.158151+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:53:23.820435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Can present antenatally with bradycardia, but no specific mention of hydrops. \nSources: Expert Review; to: Can present antenatally with bradycardia. \r\nSources: Expert Review",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:53:12.146137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNQ1: Changed rating: GREEN",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:52:37.715855+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KARS as ready",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:52:37.703172+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kars has been classified as Red List (Low Evidence).",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:52:34.026726+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KARS were changed from DEAFNESS, AUTOSOMAL RECESSIVE 89; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B to Leukoencephalopathy with or without deafness (LEPID), MIM#619147",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:52:17.465775+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KARS were set to ",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:52:01.165660+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Sources: Expert list; to: Clinical presentation is typically post-natal.",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:51:48.589862+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KARS: Changed rating: RED; Changed phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:49:37.943752+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NKX2-1 was added\ngene: NKX2-1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NKX2-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NKX2-1 were set to 23911641; 11854319; 24714694\nPhenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress - MIM#610978\nReview for gene: NKX2-1 was set to GREEN\nAdded comment: Heterozygous variants associated with congenital hypothyroidism, choreathetosis with or without pulmonary dysfunction. Allelic disorder to benign hereditary chorea (118700), which is less severe. Hypoplasia of the thyroid reported in some individuals. OMIM also reports septal heart defects noted in some patients. \nSources: Literature",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:36:41.327256+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: IYD was added\ngene: IYD was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IYD were set to 18434651; 18765512; 838849; 14169503\nPhenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4 - MIM#274800\nReview for gene: IYD was set to GREEN\nAdded comment: Known association with congenital hypothyroidism secondary to thyroid dyshormonogenesis. Although antenatal diagnosis not reported, goitre known phenotypic feature. \nSources: Literature",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:22:02.034061+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: IRS4: Added comment: Associated with isolated central congenital hypothyroidism (insufficient pituitary TSH production). Postnatal diagnosis with no prenatal features reported. Small thyroid gland is a late postnatal phenotypic feature.; Changed rating: AMBER",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:18:26.423380+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: IRS4 was added\ngene: IRS4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IRS4 were set to 34566885; 34225927; 34093435; 33107432; 30061370\nPhenotypes for gene: IRS4 were set to Hypothyroidism, congenital, nongoitrous, 9- MIM#301035\nReview for gene: IRS4 was set to RED\nAdded comment: Associated with isolated central congenital hypothyroidism (insufficient pituitary TSH production). Postnatal diagnosis with no prenatal features reported. \nSources: Literature",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2022-02-21T12:01:04.541738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DUOXA2 was added\ngene: DUOXA2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900\nReview for gene: DUOXA2 was set to GREEN\nAdded comment: Well-established gene disease association with congenital hypothyroidism \nSources: Literature",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:57:41.406501+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DUOXA1 was added\ngene: DUOXA1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DUOXA1 were set to 31428054; 29650690\nPhenotypes for gene: DUOXA1 were set to congenital hypothyroidism, No OMIM #\nReview for gene: DUOXA1 was set to AMBER\nAdded comment: No new publications since last PanelApp review Feb 2021\r\n\r\n--\r\n\r\n12 cases, but digenic model with variants in other genes \nSources: Literature",
"entity_name": "DUOXA1",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:56:07.890140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11011",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DLC1 as ready",
"entity_name": "DLC1",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:56:07.875910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11011",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dlc1 has been classified as Green List (High Evidence).",
"entity_name": "DLC1",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:54:35.278347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11011",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DLC1 as Green List (high evidence)",
"entity_name": "DLC1",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:54:35.268138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11011",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dlc1 has been classified as Green List (High Evidence).",
"entity_name": "DLC1",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:54:14.841297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11010",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DLC1 was added\ngene: DLC1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLC1 were set to 29773874\nPhenotypes for gene: DLC1 were set to Nephrotic syndrome MONDO:0005377\nReview for gene: DLC1 was set to GREEN\nAdded comment: Biallelic variants in 4 families, and knockdown of DLC1 in cultured podocytes reduces migration rate and treatment with dexamethasone abolishes RhoA activation. \nSources: Expert list",
"entity_name": "DLC1",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:46:29.827665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DUOX2 was added\ngene: DUOX2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DUOX2 were set to 33692749; 34019632; 34341225; 16134168\nPhenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis 6 - MIM#607200\nReview for gene: DUOX2 was set to GREEN\nAdded comment: Well-established gene disease association with congenital hypothyroidism. \nSources: Literature",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:43:01.062679+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DUOX1 was added\ngene: DUOX1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DUOX1 were set to 29650690; 34019632\nPhenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM #\nReview for gene: DUOX1 was set to AMBER\nAdded comment: Gene reviewed for PanelApp in Feb 2021 - \"11 cases, but digenic model, with variants in other genes\". No further case reports published since. PMID 34019632 provide evidence of recapitulation of congenital hypothyroidism phenotype in duox mutant zebrafish. \nSources: Literature",
"entity_name": "DUOX1",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:34:11.270648+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Ain Roesley",
"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; Current diagnostic: yes",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:32:18.655797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11009",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15870678, 25604658, 23592335, 20301648; Phenotypes: Aicardi-Goutieres syndrome 4 MIM#610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:31:35.081278+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15870678, 25604658, 23592335; Phenotypes: Aicardi-Goutieres syndrome 4 MIM#610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:27:37.214606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CDCA8 was added\ngene: CDCA8 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CDCA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDCA8 were set to 28025328; 29546359\nPhenotypes for gene: CDCA8 were set to Congenital hypothyroidism, thyroid dysgenesis, no OMIM #\nReview for gene: CDCA8 was set to GREEN\nAdded comment: Gene associated with congenital hypothyroidism secondary to thyroid dysgenesis. No new publications since last PanelApp review Feb 2021\r\n\r\n---\r\n\r\n4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants. GREEN for mono allelic, RED for biallelic. \nSources: Literature",
"entity_name": "CDCA8",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:10:14.636110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NPRL3 was added\ngene: NPRL3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NPRL3 were set to 27173016; 26285051; 33461085\nPhenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3- MIM#617118\nReview for gene: NPRL3 was set to GREEN\nAdded comment: Known association with focal epilepsy (variable penetrance) with focal cortical dysplasia being a reported feature. FCD has the potential to be detected prenatally. \nSources: Literature",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-02-21T11:07:24.239550+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3709",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NPRL2 was added\ngene: NPRL2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NPRL2 were set to 29281825; 27173016; 31625153; 33461085; 22268191\nPhenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2 - MIM#617116\nReview for gene: NPRL2 was set to GREEN\nAdded comment: Heterozygous NPRL2 variants associated with focal epilepsy of variable severity. Incomplete penetrance also a known feature. Probands from 3 unrelated families noted to have focal cortical dysplasia which has the potential to be detected prenatally. \nSources: Literature",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2022-02-21T10:59:07.661246+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.43",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 2- MIM#617116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NPRL2",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:05:36.716234+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM#\t618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:05:01.743306+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL6ST: Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:04:40.724551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:04:10.337885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL6ST: Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:02:51.523626+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WARS2 as ready",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:02:51.510393+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wars2 has been classified as Green List (High Evidence).",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:02:47.438508+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WARS2 as Green List (high evidence)",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:02:47.427620+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wars2 has been classified as Green List (High Evidence).",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:02:32.419845+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WARS2 was added\ngene: WARS2 was added to Ataxia - paediatric. Sources: Expert Review\nMode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WARS2 were set to 29120065; 31970218; 34890876; 28236339; 28650581; 28905505; 30920170\nPhenotypes for gene: WARS2 were set to Parkinsonism-dystonia 3, childhood-onset, MIM# 619738; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710\nReview for gene: WARS2 was set to GREEN\nAdded comment: Childhood-onset parkinsonism-dystonia-3 (PKDYS3) is an autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances. 8 individuals from 4 families reported.\r\n\r\nNEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding. 12 individuals from 8 unrelated families reported.\r\n\r\nIt is unclear whether these are two distinct disorders or whether they represent a spectrum of severity for a single condition. \nSources: Expert Review",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:01:22.986668+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WARS2 as ready",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:01:22.973403+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wars2 has been classified as Green List (High Evidence).",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:01:18.798087+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WARS2 as Green List (high evidence)",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:01:18.789391+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wars2 has been classified as Green List (High Evidence).",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T18:01:03.329187+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WARS2 was added\ngene: WARS2 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WARS2 were set to 29120065; 31970218; 34890876; 28236339; 28650581; 28905505; 30920170\nPhenotypes for gene: WARS2 were set to Parkinsonism-dystonia 3, childhood-onset, MIM# 619738; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710\nReview for gene: WARS2 was set to GREEN\nAdded comment: Childhood-onset parkinsonism-dystonia-3 (PKDYS3) is an autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances. 8 individuals from 4 families reported.\r\n\r\nNEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding. 12 individuals from 8 unrelated families reported.\r\n\r\nIt is unclear whether these are two distinct disorders or whether they represent a spectrum of severity for a single condition. \nSources: Literature",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:59:32.243782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WARS2 as ready",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:59:32.226091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wars2 has been classified as Green List (High Evidence).",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:59:23.310720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WARS2 were changed from to Parkinsonism-dystonia 3, childhood-onset, MIM# 619738; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:59:02.345309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WARS2 were set to ",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:58:41.594011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:58:22.073011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29120065, 31970218, 34890876, 28236339, 28650581, 28905505, 30920170; Phenotypes: Parkinsonism-dystonia 3, childhood-onset, MIM# 619738, Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:37:28.913421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLH2 as ready",
"entity_name": "NHLH2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:37:28.899642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlh2 has been classified as Red List (Low Evidence).",
"entity_name": "NHLH2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:37:18.315535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHLH2 was added\ngene: NHLH2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NHLH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NHLH2 were set to 35066646\nPhenotypes for gene: NHLH2 were set to Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755\nReview for gene: NHLH2 was set to RED\nAdded comment: Single individual reported homozygous for a missense variant in this gene. Two other individuals heterozygous for missense variants identified as part of this cohort; however, had alternative diagnoses. \nSources: Literature",
"entity_name": "NHLH2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:35:56.047685+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLH2 as ready",
"entity_name": "NHLH2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:35:56.037471+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlh2 has been classified as Red List (Low Evidence).",
"entity_name": "NHLH2",
"entity_type": "gene"
},
{
"created": "2022-02-20T17:35:18.155639+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHLH2 was added\ngene: NHLH2 was added to Differences of Sex Development. Sources: Expert Review\nMode of inheritance for gene: NHLH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NHLH2 were set to 35066646\nPhenotypes for gene: NHLH2 were set to Hypogonadotropic hypogonadism 27 without anosmia , MIM#\t619755\nReview for gene: NHLH2 was set to RED\nAdded comment: Single individual reported homozygous for a missense variant in this gene. Two other individuals heterozygous for missense variants identified as part of this cohort; however, had alternative diagnoses. \nSources: Expert Review",
"entity_name": "NHLH2",
"entity_type": "gene"
},
{
"created": "2022-02-19T18:54:28.595200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11004",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SPATA16: Rating: AMBER; Mode of pathogenicity: None; Publications: 17847006, 27086357, 29065458; Phenotypes: ?Spermatogenic failure 6 MIM#102530, Spermatogenic failure 6 MONDO:0007060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SPATA16",
"entity_type": "gene"
},
{
"created": "2022-02-19T18:43:03.613338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11004",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TNFRSF10B: Rating: RED; Mode of pathogenicity: None; Publications: 9721851; Phenotypes: Squamous cell carcinoma, head and neck MIM#275355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TNFRSF10B",
"entity_type": "gene"
}
]
}