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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=551",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=549",
"results": [
{
"created": "2023-09-07T14:19:25.721506+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB34 as ready",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:19:25.706841+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:19:17.393082+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:19:17.374331+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:17:34.244302+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.264",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22341971, 22341972; Phenotypes: Hypermanganesemia with dystonia 1 (MIM# 613280); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:17:30.879722+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A3BP as ready",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:17:30.866293+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3bp has been classified as Green List (High Evidence).",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:15:48.067936+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A3BP as Green List (high evidence)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:15:48.057045+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3bp has been classified as Green List (High Evidence).",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:15:19.924701+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: COL4A3BP.",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:15:02.599367+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A14 as ready",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:15:02.588837+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a14 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:14:59.998112+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A14 were changed from to Hypermanganesemia with dystonia 2 (MIM# 617013)",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:14:22.757310+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC39A14 were set to ",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:10:26.176680+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC39A14 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:07:51.946706+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC39A14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2023-09-07T13:10:51.921577+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.260",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27231142, 32626807, 29685658, 30232769; Phenotypes: Hypermanganesemia with dystonia 2 (MIM# 617013); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2023-09-07T13:02:58.342416+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.178",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: COL4A3BP was added\ngene: COL4A3BP was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A3BP were set to PMID: 36976648\nPhenotypes for gene: COL4A3BP were set to Intellectual developmental disorder 34 (MIM#616351)\nMode of pathogenicity for gene: COL4A3BP was set to Other\nReview for gene: COL4A3BP was set to GREEN\ngene: COL4A3BP was marked as current diagnostic\nAdded comment: - current HGNC symbol: CERT1\r\n- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.\r\n- Several variants transfected into HeLa cells demonstrated gain of CERT activity\r\n- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT \nSources: Literature",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:54:40.555307+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.9",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: RAB34 was added\ngene: RAB34 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature\nMode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB34 were set to PMID: 37619988; PMID: 37384395\nPhenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related\nReview for gene: RAB34 was set to GREEN\nAdded comment: PMID: 37619988 Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.\r\n\r\nPMID: 37384395 Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands. \nSources: Literature",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:54:26.995096+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.889",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: APOO: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37649161; Phenotypes: agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, severe immune deficiencies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:54:23.638311+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.205",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: RAB34 was added\ngene: RAB34 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB34 were set to PMID: 37619988; PMID: 37384395\nPhenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related\nReview for gene: RAB34 was set to GREEN\nAdded comment: PMID: 37619988 Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.\r\n\r\nPMID: 37384395 Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands. \nSources: Literature",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:54:22.686898+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A2 as ready",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:54:22.672772+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:54:17.632964+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A2 as Amber List (moderate evidence)",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:54:17.618851+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:52:57.531607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1156",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \nSources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \r\nSources: Literature",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:52:55.187893+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.229",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: GABRB3 was added\ngene: GABRB3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRB3 were set to 37647766\nPhenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113\nMode of pathogenicity for gene: GABRB3 was set to Other\nReview for gene: GABRB3 was set to GREEN\nAdded comment: Voltage-clamp electrophysiology studies have shown that gain-of-function variants clustering in the transmembrane regions part of the channel pore result in a more severe phenotype, including movement disorders (dystonia and dyskinesia) and microcephaly.\r\n\r\nGain-of-function variants clustered in the coupling loops responsible for receptor activation are not associated with movement disorder and microcephaly.\r\n\r\nLoF variants have not been associated with microcephaly and movement disorders either. \nSources: Literature",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:52:50.960097+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.132",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \nSources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \r\nSources: Literature",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:52:45.895877+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1912",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \nSources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \r\nSources: Literature",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:52:33.232123+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.44",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: RAB34 was added\ngene: RAB34 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB34 were set to PMID: 37619988; PMID: 37384395\nPhenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related\nReview for gene: RAB34 was set to GREEN\nAdded comment: PMID: 37619988 Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.\r\n\r\nPMID: 37384395 Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands. \nSources: Literature",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:52:00.716694+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.7",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: DHX16 were set to 36211162",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:51:40.960913+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: DBR1 as ready",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:51:40.945118+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dbr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:51:37.692463+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.143",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: DBR1 as ready",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:51:37.678096+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.143",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dbr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:51:37.527914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1156",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37656279; Phenotypes: Ichthyosis (MONDO#0019269), DBR1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:51:11.050990+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: DBR1 were changed from Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life to Ichthyosis (MONDO#0019269), DBR1-related",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:51:07.680265+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1912",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: RAB5C as ready",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:51:07.667477+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1912",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab5c has been classified as Green List (High Evidence).",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:50:56.834951+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1912",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RAB5C as Green List (high evidence)",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:50:56.815800+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1912",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab5c has been classified as Green List (High Evidence).",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:50:47.547813+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.111",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: GABRB3 was added\ngene: GABRB3 was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRB3 were set to 37647766\nPhenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113\nMode of pathogenicity for gene: GABRB3 was set to Other\nReview for gene: GABRB3 was set to GREEN\nAdded comment: Voltage-clamp electrophysiology studies have shown that gain-of-function variants clustering in the transmembrane regions part of the channel pore result in a more severe phenotype, including movement disorders (dystonia and dyskinesia) and microcephaly.\r\n\r\nGain-of-function variants clustered in the coupling loops responsible for receptor activation are not associated with movement disorder and microcephaly.\r\n\r\nLoF variants have not been associated with microcephaly and movement disorders either. \nSources: Literature",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:50:46.154780+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DHX16 as Green List (high evidence)",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:50:46.134697+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dhx16 has been classified as Green List (High Evidence).",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:50:40.072979+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.143",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: DBR1 were changed from Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life to Ichthyosis (MONDO#0019269), DBR1-related",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:50:32.056687+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.142",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:50:23.918641+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1911",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: COL4A3BP was added\ngene: COL4A3BP was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A3BP were set to PMID: 36976648\nPhenotypes for gene: COL4A3BP were set to Intellectual developmental disorder 34 (MIM#616351)\nMode of pathogenicity for gene: COL4A3BP was set to Other\nReview for gene: COL4A3BP was set to GREEN\ngene: COL4A3BP was marked as current diagnostic\nAdded comment: - current HGNC symbol: CERT1\r\n- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo\r\n- Several variants transfected into HeLa cells demonstrated gain of CERT activity\r\n- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT \nSources: Literature",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:50:20.733702+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.142",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "edited their review of gene: DBR1: Added comment: PMID: 37656279:\r\n-\tA homozygous missense as a founder recessive DBR1 variant in four consanguineous families. \r\n- Total of 7 affected children. WES done for one proband from each family.\r\n-\tConsistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.\r\n-\tRNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.\r\n-\tHaplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.\r\n-\tAuthors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.; Changed phenotypes: Ichthyosis (MONDO#0019269), DBR1-related",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:50:18.871392+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAP2 were changed from Dilated cardiomyopathy to Cardiomyopathy, dilated, 2I (MIM#620462)",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:49:59.257953+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.5",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:49:56.772816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1155",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.\r\n- Several variants transfected into HeLa cells demonstrated gain of CERT activity\r\n- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT; to: - current HGNC symbol: CERT1\r\n- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.\r\n- Several variants transfected into HeLa cells demonstrated gain of CERT activity\r\n- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:49:49.084760+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.5",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "edited their review of gene: DBR1: Added comment: PMID: 37656279:\r\n-\tA homozygous missense as a founder recessive DBR1 variant in four consanguineous families. \r\n- Total of 7 affected children. WES done for one proband from each family.\r\n-\tConsistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.\r\n-\tRNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.\r\n-\tHaplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.\r\n-\tAuthors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.; Changed phenotypes: Ichthyosis (MONDO#0019269), DBR1-related",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:49:40.071573+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5390",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.\r\n- Several variants transfected into HeLa cells demonstrated gain of CERT activity\r\n- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT; to: - current HGNC symbol: CERT1\r\n- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.\r\n- Several variants transfected into HeLa cells demonstrated gain of CERT activity\r\n- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:49:12.325583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAP2 were set to 30518548",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:49:11.372381+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1911",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: RAB5C was added\ngene: RAB5C was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB5C were set to PMID: 37552066\nPhenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related\nPenetrance for gene: RAB5C were set to Complete\nReview for gene: RAB5C was set to GREEN\ngene: RAB5C was marked as current diagnostic\nAdded comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \nSources: Literature",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:49:07.979723+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.168",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: CAP2 was added\ngene: CAP2 was added to Cardiomyopathy_Paediatric. Sources: Expert list\nMode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAP2 were set to PMID: 30518548; 33083013; 34862840\nPhenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462)\nReview for gene: CAP2 was set to GREEN\nAdded comment: Four patients from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.\r\n\r\nPMID: 33083013: Cheema\r\nHomozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested.\r\n\r\nPMID: 34862840: Gurunathan\r\nHomozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected.\r\n\r\nPMID: 30518548: Aspit\r\nHomozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease. \nSources: Expert list",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:48:39.343941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAP2 as Green List (high evidence)",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:48:39.330691+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cap2 has been classified as Green List (High Evidence).",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:48:09.623406+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.132",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: RAB5C as ready",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:48:09.609718+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.132",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab5c has been classified as Green List (High Evidence).",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:48:05.656368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30518548, 33083013, 34862840; Phenotypes: Cardiomyopathy, dilated, 2I (MIM#620462); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:48:05.625405+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.132",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RAB5C as Green List (high evidence)",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:48:05.605158+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.132",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab5c has been classified as Green List (High Evidence).",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:47:40.680066+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.131",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RAB5C as Green List (high evidence)",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:47:40.671320+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.131",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab5c has been classified as Green List (High Evidence).",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:46:43.123517+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAP2 as ready",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:46:43.114873+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cap2 has been classified as Green List (High Evidence).",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:46:26.106367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1153",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 36976648; Phenotypes: Intellectual developmental disorder 34 (MIM#616351); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:46:07.173295+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.130",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: RAB5C was added\ngene: RAB5C was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB5C were set to PMID: 37552066\nPhenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related\nPenetrance for gene: RAB5C were set to Complete\nReview for gene: RAB5C was set to GREEN\ngene: RAB5C was marked as current diagnostic\nAdded comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \nSources: Literature",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:45:53.225023+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5390",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.\r\n- Several variants transfected into HeLa cells demonstrated gain of CERT activity\r\n- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity,\r\nwhich was corrected by pharmacological inhibition of CERT; to: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.\r\n- Several variants transfected into HeLa cells demonstrated gain of CERT activity\r\n- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:45:27.022724+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAP2 as Green List (high evidence)",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:45:27.012216+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cap2 has been classified as Green List (High Evidence).",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:44:25.424374+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5390",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.\r\n- Several variants transfected into HeLa cells demonstrated gain of CERT activity\r\n- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity,\r\nwhich was corrected by pharmacological inhibition of CERT; to: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.\r\n- Several variants transfected into HeLa cells demonstrated gain of CERT activity\r\n- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity,\r\nwhich was corrected by pharmacological inhibition of CERT",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:43:43.427283+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.22",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: CAP2 was added\ngene: CAP2 was added to Dilated Cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAP2 were set to PMID: 30518548; 33083013; 34862840\nPhenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462)\nReview for gene: CAP2 was set to GREEN\nAdded comment: Four patients from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.\r\n\r\nPMID: 33083013: Cheema\r\nHomozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested. \r\n\r\nPMID: 34862840: Gurunathan\r\nHomozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected. \r\n\r\nPMID: 30518548: Aspit \r\nHomozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease. \nSources: Expert list",
"entity_name": "CAP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:43:42.235387+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5390",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 36976648; Phenotypes: Intellectual developmental disorder 34 (MIM#616351); Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:43:03.510231+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LNPK as ready",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:43:03.498594+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lnpk has been classified as Green List (High Evidence).",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:42:55.566124+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.5",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DHX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 37664979, 37574199; Phenotypes: Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733, MONDO:0032890); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:42:51.243565+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LNPK as Green List (high evidence)",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:42:51.233175+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lnpk has been classified as Green List (High Evidence).",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:42:47.459595+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.5",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DBR1 as Amber List (moderate evidence)",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:42:47.443529+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.5",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dbr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:41:52.083702+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5390",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \nSources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll have mild to severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \r\nSources: Literature",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:40:41.195744+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5390",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: RAB5C as ready",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:40:41.187589+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5390",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab5c has been classified as Green List (High Evidence).",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:40:32.088026+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5390",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RAB5C as Green List (high evidence)",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:40:32.075459+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5390",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab5c has been classified as Green List (High Evidence).",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:40:00.691477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1153",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: RAB5C as ready",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:40:00.676573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1153",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab5c has been classified as Green List (High Evidence).",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:39:46.910832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1153",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RAB5C as Green List (high evidence)",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:39:46.900852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1153",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab5c has been classified as Green List (High Evidence).",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:39:45.721848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1153",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RAB5C as Green List (high evidence)",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:39:45.712775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1153",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab5c has been classified as Green List (High Evidence).",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:38:52.987466+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.130",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AXIN1 as Green List (high evidence)",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:38:52.978222+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.130",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:38:08.438579+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AXIN1 as Green List (high evidence)",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:38:08.426609+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:37:52.323909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1152",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: RAB5C was added\ngene: RAB5C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB5C were set to PMID: 37552066\nPhenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related\nPenetrance for gene: RAB5C were set to Complete\nReview for gene: RAB5C was set to GREEN\ngene: RAB5C was marked as current diagnostic\nAdded comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \nSources: Literature",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:37:45.510829+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AXIN1 as Green List (high evidence)",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:37:45.481218+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
}
]
}