HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=313",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=311",
"results": [
{
"created": "2025-01-13T11:01:17.785688+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX2 as Green List (high evidence)",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-13T11:01:17.776189+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox2 has been classified as Green List (High Evidence).",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-13T11:01:05.117943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBFOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart disease MONDO:0005453, RBFOX2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-13T11:00:13.003716+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBFOX2 were changed from Hypoplastic left heart syndrome (HLHS) MONDO:0004933 to Congenital heart disease MONDO:0005453, RBFOX2-related",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-13T10:59:52.818234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX2 as Green List (high evidence)",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-13T10:59:52.799750+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox2 has been classified as Green List (High Evidence).",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-13T10:59:22.963342+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBFOX2 were changed from Hypoplastic left heart syndrome (HLHS) MONDO:0004933 to Congenital heart disease MONDO:0005453, RBFOX2-related",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-13T10:58:47.623083+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX2 as Green List (high evidence)",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-13T10:58:47.606607+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox2 has been classified as Green List (High Evidence).",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-13T10:58:13.712065+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RBFOX2: Added comment: STRONG by ClinGen. At least 5 unrelated families and supportive zebrafish model.; Changed rating: GREEN; Changed phenotypes: Congenital heart disease MONDO:0005453, RBFOX2-related",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:09:41.140696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:09:23.063990+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCT3 were changed from neurodevelopmental disorder MONDO:0700092, CCT3-related to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:08:39.843926+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:08:13.485016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCT3 were changed from neurodevelopmental disorder MONDO:0700092, CCT3-related to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:07:49.795645+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:07:10.494401+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:06:32.939233+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:06:15.062642+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:05:33.003220+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:05:13.075714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:04:53.038350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:04:36.572996+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2025-01-12T17:03:56.439729+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCP1",
"entity_type": "gene"
},
{
"created": "2025-01-11T00:48:48.899735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2238",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: TAOK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39737487; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-01-10T17:45:35.162358+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19681135, 9018419, 18348262; Phenotypes: Geroderma osteodysplasticum, MIM#231070, MONDO:0009271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2025-01-10T17:21:42.787267+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20886637, 21070211, 30899093, 24252386; Phenotypes: Krabbe disease, MIM# 245200, MONDO:0009499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2025-01-10T16:40:27.658148+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31898843, 38303731; Phenotypes: Methemoglobinemia, type II (MIM# 250800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2025-01-09T17:00:23.088134+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2025-01-09T16:55:15.335469+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 36292720; Phenotypes: Glycogen storage disease XI MIM#612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2025-01-09T16:34:19.218977+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM#612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2025-01-09T16:10:29.053227+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 34587761; Phenotypes: Naxos disease MIM#601214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2025-01-09T16:02:33.675483+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25521378, 25521379, 26640080; Phenotypes: Lissencephaly 6, with microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2025-01-09T16:02:30.730748+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: 32646888, 26119737, 26046368, 26085575; Phenotypes: Fanconi anemia, complementation group T (MIM#616435); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2025-01-09T15:27:48.690431+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 35187668, 31096038; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive MIM#612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2025-01-09T15:22:35.105848+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34785121, 25439726; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320, Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2025-01-09T15:21:18.792044+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: 1. Cleft palate with ankyloglossia (MIM# 303400)\r\n- More than 10 families reported with cleft palate/ankyloglossia and variants in this gene.\r\n- PMID:36901693 - Characterised by a cleft palate phenotype that is most often present in males and ranges from a high-arched palate, bifid uvula, submucous cleft palate, soft cleft palate, to complete cleft palate\r\n- OMIM, PMID:36901693 - Ankyloglossia/ bifid uvula/cleft palate reported in heterozygous females\r\n- Overall mild phenotype although PMID: 21375406 describes 1x TBX22 hemizygous individual with unilateral complete cleft lip and palate, ankyloglossia, hypodontia of the left maxillary second premolar, carpal bone anomalies, and hypoplastic thumb of the right hand. No other genes were tested.\r\n\r\n2. Abruzzo-Erickson syndrome, MIM# 302905\r\nPMID:22784330 - Single family reported with Abruzzo-Erickson syndrome, a syndromic form of cleft palate. Did not find additional reports on this phenotype; to: 1. Cleft palate with ankyloglossia (MIM# 303400)\r\n- More than 10 families reported with cleft palate/ankyloglossia and variants in this gene.\r\n- PMID:36901693 - Characterised by a cleft palate phenotype that is most often present in males and ranges from a high-arched palate, bifid uvula, submucous cleft palate, soft cleft palate, to complete cleft palate\r\n- OMIM, PMID:36901693 - Ankyloglossia/ bifid uvula/cleft palate reported in heterozygous females\r\n- Overall mild phenotype although PMID: 21375406 describes 1x TBX22 hemizygous individual with unilateral complete cleft lip and palate, ankyloglossia, hypodontia of the left maxillary second premolar, carpal bone anomalies, and hypoplastic thumb of the right hand. No other genes were tested.\r\n\r\n2. Abruzzo-Erickson syndrome, MIM# 302905\r\nPMID:22784330 - Single family reported with Abruzzo-Erickson syndrome, a syndromic form of cleft palate. Did not find additional reports on this phenotype",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2025-01-09T15:15:05.908916+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: None; Publications: 36901693, 22784330, 21375406; Phenotypes: Cleft palate with ankyloglossia (MIM# 303400); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2025-01-09T15:03:02.716044+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37761893; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2025-01-09T14:37:15.865613+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: GRHPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301742, 28569194; Phenotypes: Hyperoxaluria, primary, type II MIM#260000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2025-01-09T14:03:46.032840+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20602914, 22578326, 28387217, 27180139, 27064331; Phenotypes: Chudley-McCullough syndrome MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2025-01-09T13:59:43.482837+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041, 35410112, 35394098, 34093443; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2025-01-09T13:51:32.636215+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23951358, 29902798, 34035645; Phenotypes: Craniometaphyseal dysplasia, autosomal recessive MIM#218400, Oculodentodigital dysplasia, autosomal recessive MIM#257850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2025-01-09T11:26:06.271417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2238",
"user_name": "Jonathon Bradshaw",
"item_type": "entity",
"text": "reviewed gene: RBFOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26785492, 27670201, 32368696, 27485310, 25205790, 35137168, 26785492, 28991257; Phenotypes: RBFOX2-related congenital heart disorder (MONDO:0100557); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-09T11:22:43.739237+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2238",
"user_name": "Jonathon Bradshaw",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-09T11:22:14.161561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2238",
"user_name": "Jonathon Bradshaw",
"item_type": "entity",
"text": "changed review comment from: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (1x nonsense, 1x frameshift, 1x canonical splice variants). All 3 probands have hypoplastic left heart syndrome (HLHS) and no extra-cardiac features. Same cohort later included in PMID: 32368696, listed one additional de novo variant in this gene (missense variant) in a patient with conotruncal defects (CTDs).\r\n\r\n- PMID: 28991257: Same research consortium as above, an additional splice variant observed in a singleton from the CHD cohort identified as a LoF predicted heterozygous mutation.\r\n\r\n- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.\r\n\r\n- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.\r\n\r\n- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.\r\n\r\n- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.\r\n\r\n- 2x NMD-predicted de novo individuals with cardiac defects have been observed (internal data).\r\n\r\n- ClinVar: one current pathogenic entry: c.523dup (p.Ser175fs). This patient had a complex congenital cardiac defect, choreiform movement disorder, developmental delay, a clotting disorder, intermittent cyanosis, chronic lung disease, low muscle tone, short stature and failure to gain weight, mild dysmorphisms, and mild joint laxity. Brain MRI shows a stable chronic infarction, stable cerebral volume loss, and ex-vacuo prominence of ventricles (personal communication).\r\n\r\n- ClinGen has curated this gene. Strong association and evidence supporting LoF as a mechanism of disease.; to: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (1x nonsense, 1x frameshift, 1x canonical splice variants). All 3 probands have hypoplastic left heart syndrome (HLHS) and no extra-cardiac features. Same cohort later included in PMID: 32368696, listed one additional de novo variant in this gene (missense variant) in a patient with conotruncal defects (CTDs).\r\n\r\n- PMID: 28991257: Same research consortium as above, an additional splice variant observed in a singleton from the CHD cohort identified as a LoF predicted heterozygous mutation.\r\n\r\n- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.\r\n\r\n- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.\r\n\r\n- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.\r\n\r\n- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.\r\n\r\n- 2x NMD-predicted de novo individuals with cardiac defects have been observed (internal data).\r\n\r\n- ClinVar: one current pathogenic entry: c.523dup (p.Ser175fs). This patient had a complex congenital cardiac defect, choreiform movement disorder, developmental delay, a clotting disorder, intermittent cyanosis, chronic lung disease, low muscle tone, short stature and failure to gain weight, mild dysmorphisms, and mild joint laxity. Brain MRI shows a stable chronic infarction, stable cerebral volume loss, and ex-vacuo prominence of ventricles (personal communication).\r\n\r\n- ClinGen has curated this gene. Strong association and evidence supporting LoF as a mechanism of disease.",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-09T11:21:32.499151+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2238",
"user_name": "Jonathon Bradshaw",
"item_type": "entity",
"text": "reviewed gene: RBFOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 26785492, 27670201, 32368696, 27485310, 25205790, 35137168, 26785492, 28991257); Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2025-01-09T10:50:48.976134+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10206641, 20978268, 20978268, 28636882, 31566583, 31447097; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2025-01-09T10:32:07.590849+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anemia, complementation group E MIM#600901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2025-01-09T10:23:33.880992+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 31368252, 23522784, 29924900; Phenotypes: Adams-Oliver syndrome 4 MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2025-01-08T21:08:17.296399+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "changed review comment from: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age. \r\n\r\nHSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).\r\n\r\nGene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31. Also previously referred to as Riley-Day syndrome.\r\nFrom Mendeliome; AR dysautonomia: the condition is predominantly caused by homozygosity of c.2204+6T>C (major familial dysautonomia AJ haplotype - causes tissue-specific exon 20 skipping) in Ashkenazi Jewish individuals. Other variants have been reported in association with the disease.; to: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age. \r\n\r\nHSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).\r\n\r\nGene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31. \r\n\r\nFrom Mendeliome; AR dysautonomia: the condition is predominantly caused by homozygosity of c.2204+6T>C (major familial dysautonomia AJ haplotype - causes tissue-specific exon 20 skipping) in Ashkenazi Jewish individuals. Other variants have been reported in association with the disease.",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2025-01-08T21:06:34.765189+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "changed review comment from: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age. HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).\r\n\r\nGene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31. Also previously referred to as Riley-Day syndrome.; to: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age. \r\n\r\nHSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).\r\n\r\nGene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31. Also previously referred to as Riley-Day syndrome.\r\nFrom Mendeliome; AR dysautonomia: the condition is predominantly caused by homozygosity of c.2204+6T>C (major familial dysautonomia AJ haplotype - causes tissue-specific exon 20 skipping) in Ashkenazi Jewish individuals. Other variants have been reported in association with the disease.",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2025-01-08T21:02:12.755528+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179021, 4322121, 16777588, 30905397; Phenotypes: Dysautonomia, familial MIM#223900, Hereditary sensory and autonomic neuropathy type III (HSAN3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2025-01-08T20:32:32.244068+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2025-01-08T20:12:25.163199+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "changed review comment from: Well-established gene-disease association. Hypohidrotic ectodermal dysplasia (HED) is characterised by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). Biallelic loss-of-function variants cause early onset classic HED, whereas monoallelic dominant-negative variants cause mild HED.; to: Well-established gene-disease association. Hypohidrotic ectodermal dysplasia (HED) is characterised by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). Biallelic loss-of-function variants cause early onset classic HED, whereas monoallelic dominant-negative variants cause mild HED.",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2025-01-08T20:11:09.050272+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431241, 16435307, 20979233, 23401279; Phenotypes: autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619, autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:24:37.338482+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36150100; Phenotypes: Arterial calcification, generalized, of infancy, 1 MIM#208000, Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:23:58.710533+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299040; Phenotypes: Barth syndrome (MIM# 302060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:22:04.339325+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EP400 as ready",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:22:04.319626+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ep400 has been classified as Green List (High Evidence).",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:15:30.405108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EP400 as Green List (high evidence)",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:15:30.393949+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ep400 has been classified as Green List (High Evidence).",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:13:40.966633+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.33",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: EP400 was added\ngene: EP400 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EP400 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EP400 were set to 39708813\nPhenotypes for gene: EP400 were set to neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930\nReview for gene: EP400 was set to GREEN\nAdded comment: 6 unrelated probands presenting with epilepsy with NDD (including ID and DD) had compound heterozygous variants in EP400. They were confirmed in trans and inherited from their asymptomatic parents.\r\n\r\nKnockdown of EP400 ortholog in Drosophila showed an increase in seizure-like susceptibility and abnormal neurological behaviour. \nSources: Literature",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:12:09.897455+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: LRRC8C was added\ngene: LRRC8C was added to Vascular Malformations_Germline. Sources: Literature\nMode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LRRC8C were set to 39623139\nPhenotypes for gene: LRRC8C were set to TIMES syndrome MIM#621056\nMode of pathogenicity for gene: LRRC8C was set to Other\nReview for gene: LRRC8C was set to AMBER\nAdded comment: TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy.\r\n\r\nTwo individuals from unrelated families presenting with similar features consistent with TIMES syndrome.\r\nLeu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF.\r\nSupporting in vitro functional assay was conducted however further evidence is required to upgrade the gene classification. \nSources: Literature",
"entity_name": "LRRC8C",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:11:17.900295+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EP400 as ready",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:11:17.885228+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ep400 has been classified as Green List (High Evidence).",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:11:01.211712+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30896912; Phenotypes: Multiple sulfatase deficiency (MIM#272200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:10:38.693080+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EP400 as Green List (high evidence)",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:10:38.683339+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ep400 has been classified as Green List (High Evidence).",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:10:05.762809+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.33",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: LRRC8C was added\ngene: LRRC8C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LRRC8C were set to 39623139\nPhenotypes for gene: LRRC8C were set to TIMES syndrome MIM#621056\nMode of pathogenicity for gene: LRRC8C was set to Other\nReview for gene: LRRC8C was set to AMBER\nAdded comment: TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy.\r\n\r\nTwo individuals from unrelated families presenting with similar features consistent with TIMES syndrome.\r\nLeu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF.\r\nSupporting in vitro functional assay was conducted however further evidence is required to upgrade the gene classification. \nSources: Literature",
"entity_name": "LRRC8C",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:09:14.686752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2238",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EP400 as ready",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:09:14.671623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2238",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ep400 has been classified as Green List (High Evidence).",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:09:05.166439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2238",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EP400 as Green List (high evidence)",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:09:05.153794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2238",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ep400 has been classified as Green List (High Evidence).",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:08:11.350138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2237",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy. \r\n\r\nTwo individuals from unrelated families presenting with similar features consistent with TIMES syndrome. \r\nLeu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF. \nSources: Literature; to: TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy. \r\n\r\nTwo individuals from unrelated families presenting with similar features consistent with TIMES syndrome. \r\nLeu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF. \r\nSupporting in vitro functional assay was conducted however further evidence is required to upgrade the gene classification.\r\nSources: Literature",
"entity_name": "LRRC8C",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:06:02.520471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2237",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: LRRC8C: Changed rating: AMBER",
"entity_name": "LRRC8C",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:05:18.099302+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22304930, 22742743, 16870884; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2025-01-08T17:01:51.111077+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2025-01-08T16:53:00.708399+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34745209; Phenotypes: Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2025-01-08T16:52:50.615058+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: DNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18950741; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2025-01-08T16:41:03.083858+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.89",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: EP400 was added\ngene: EP400 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: EP400 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EP400 were set to 39708813\nPhenotypes for gene: EP400 were set to neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930\nReview for gene: EP400 was set to GREEN\nAdded comment: 6 unrelated probands presenting with epilepsy with NDD had compound heterozygous variants in EP400. They were confirmed in trans and inherited from their asymptomatic parents.\r\n\r\nKnockdown of EP400 ortholog in Drosophila showed an increase in seizure-like susceptibility and abnormal neurological behaviour. \nSources: Literature",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T16:40:04.200295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2237",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: EP400 was added\ngene: EP400 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EP400 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EP400 were set to 39708813\nPhenotypes for gene: EP400 were set to neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930\nReview for gene: EP400 was set to GREEN\nAdded comment: 6 unrelated probands presenting with epilepsy with NDD had compound heterozygous variants in EP400. They were confirmed in trans and inherited from their asymptomatic parents.\r\n\r\nKnockdown of EP400 ortholog in Drosophila showed an increase in seizure-like susceptibility and abnormal neurological behaviour. \nSources: Literature",
"entity_name": "EP400",
"entity_type": "gene"
},
{
"created": "2025-01-08T16:39:55.721309+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26677510, 35346091; Phenotypes: Epilepsy, progressive myoclonic 4, with or without renal failure (MIM #254900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2025-01-08T16:23:11.217340+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15166289, 18627045, 23335590; Phenotypes: Craniofrontonasal dysplasia MIM#304110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2025-01-08T16:11:42.794817+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "changed review comment from: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.\r\n\r\nHGNC approved symbol/name: ISCA1\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? No\r\nGene reported in 3 independent families: Yes; to: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.\r\n\r\nHGNC approved symbol/name: ISCA1\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? No\r\nGene reported in 3 independent families: Yes\r\n\r\nMost recent case report: PMID 32092383 (4th independent family) ",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2025-01-08T16:08:25.601118+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "changed review comment from: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.\r\n\r\nHGNC approved symbol/name: ISCA1\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? No\r\nGene reported in 3 independent families: Yes; to: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.\r\n\r\nHGNC approved symbol/name: ISCA1\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? No\r\nGene reported in 3 independent families: Yes",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2025-01-08T16:06:00.806848+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30216658; Phenotypes: Warsaw breakage syndrome MIM#613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-01-08T16:04:57.100351+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28356563, 29767723; Phenotypes: Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2025-01-08T15:54:59.460508+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1 MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2025-01-08T15:45:13.971697+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27816769; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2025-01-08T15:42:45.953617+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: IL12RB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 9603733, 9603732, 12591909, 15736007, 23864330; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL12RB1",
"entity_type": "gene"
},
{
"created": "2025-01-08T15:31:25.876973+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31670143, 32506467, 25639640; Phenotypes: Epidermolysis bullosa dystrophica inversa MIM#226600, Epidermolysis bullosa dystrophica, autosomal recessive MIM#226600, Epidermolysis bullosa dystrophica, localisata variant MIM#226600, Epidermolysis bullosa pruriginosa MIM#604129, Epidermolysis bullosa, pretibial MIM#131850, Transient bullous of the newborn MIM#131705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2025-01-08T15:15:40.182800+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: 12874104, 15887277, 23043144; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880, Portal hypertension, noncirrhotic, 1, MIM# 617068, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-01-08T14:47:26.056711+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23274426, 23542698; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2025-01-08T14:32:35.279764+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2025-01-08T14:32:30.540332+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: None; Publications: 35240912; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2025-01-08T13:58:15.289838+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: CNGA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 36980963; Phenotypes: Achromatopsia 2 MIM#216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2025-01-08T13:32:00.662932+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676, 37082441; Phenotypes: Bethlem myopathy 1C MIM#620726, Ullrich congenital muscular dystrophy 1C MIM#620728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2025-01-08T12:43:37.368667+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: RCBTB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486781, 33104391, 33624564; Phenotypes: Retinal dystrophy with or without extraocular anomalies (MIM#617175); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2025-01-08T12:04:47.294029+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15525660, 17164305, 39276366; Phenotypes: Chondrodysplasia, Blomstrand type (MIM#215045), Eiken syndrome (MIM#600002); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2025-01-08T10:39:28.035883+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.992",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - PORD (P450 oxidoreductase deficiency) is associated with disorders of sex development in both sexes, where Antley-Bixler (ABS) syndrome is the name given to the severe form \r\n- Skeletal abnormalities of the ABS phenotype are frequently observed in individuals with PORD, characterised by craniosynostosis, brachycephaly, radio-ulnar or radio-humeral synostosis, bowed femora, arachnodactyly, midface hypoplasia, proptosis, and choanal stenosis. The severity of malformations varies from mild to moderate and severe.\r\n\r\nNB: Only the more severe MIM# has been added to this gene list.; to: - PORD (P450 oxidoreductase deficiency) is associated with disorders of sex development in both sexes, where Antley-Bixler (ABS) syndrome is the name given to the severe form \r\n- Skeletal abnormalities of the ABS phenotype are frequently observed in individuals with PORD, characterised by craniosynostosis, brachycephaly, radio-ulnar or radio-humeral synostosis, bowed femora, arachnodactyly, midface hypoplasia, proptosis, and choanal stenosis. The severity of malformations varies from mild to moderate and severe.\r\n- Congenital onset\r\n\r\nNB: Only the more severe MIM# has been added to this gene list.",
"entity_name": "POR",
"entity_type": "gene"
}
]
}