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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=800",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=798",
"results": [
{
"created": "2022-07-14T11:56:35.363163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.134",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: CCDC155 was added\ngene: CCDC155 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC155 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC155 were set to 35674372; 35708642; 29790874; 35587281\nPhenotypes for gene: CCDC155 were set to Non-obstructive azoospermia; Premature ovarian insufficiency\nReview for gene: CCDC155 was set to GREEN\nAdded comment: Current HGNC name is KASH5\r\n\r\nSummary: 4 families reported with non-obstructive azoospermia or premature ovarian insufficiency. Functional studies have been performed and mouse models recapitulate the phenotype.\r\n\r\nPMID: 35674372 CNV and frameshift variants in KASH5 were identified in a non-obstructive azoospermia affected patient and in his infertile sister by whole-exome sequencing and CNV array. Kash5 knockout mouse displayed similar phenotypes, including a meiotic arrest at a zygotene-like stage and impaired pairing and synapsis.\r\n\r\nPMID: 35708642 Hom splice identified in KASH5 in 2 sisters with premature ovarian insufficiency. In vitro studies found the variant disturbed the nuclear membrane localization of KASH5 and its binding with SUN1. Moreover, the Kash5 C-terminal deleted mice revealed defective meiotic homolog pairing and accelerated depletion of oocytes.\r\n\r\nPMID: 29790874 2 brothers with non-obstructive azoospermia with hom missense in CCDC155\r\n\r\n35587281 2 siblings with hom missense in CCDC155 non-obstructive azoospermia and premature ovarian insufficiency. \nSources: Literature",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:55:30.408003+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.257",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SLC30A7 as Amber List (moderate evidence)",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:55:30.396907+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.257",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: slc30a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:55:15.926617+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.257",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SLC30A7 as ready",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:55:15.889976+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.257",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: slc30a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:55:13.224057+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.257",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SLC30A7 as Amber List (moderate evidence)",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:55:13.216080+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.257",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: slc30a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:54:32.019903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.134",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SLC30A7 as ready",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:54:31.990393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.134",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: slc30a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:54:21.310839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.134",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SLC30A7 as Amber List (moderate evidence)",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:54:21.293168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.134",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: slc30a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:54:12.357514+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3C2B as ready",
"entity_name": "PIK3C2B",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:54:12.343032+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3C2B",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:54:08.094976+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3C2B as Amber List (moderate evidence)",
"entity_name": "PIK3C2B",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:54:08.086390+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3C2B",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:53:54.032904+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.32",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SLC30A7 as ready",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:53:54.021516+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.32",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: slc30a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:53:48.318237+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.32",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SLC30A7 as Amber List (moderate evidence)",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:53:48.307348+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.32",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: slc30a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:53:28.555950+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.256",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: SLC30A7 was added\ngene: SLC30A7 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC30A7 were set to PMID: 35751429\nPhenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related\nReview for gene: SLC30A7 was set to AMBER\nAdded comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported. \nSources: Literature",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:53:07.645364+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.23",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SLC30A7 as ready",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:53:07.629626+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.23",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: slc30a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:52:50.379064+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.23",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SLC30A7 as Amber List (moderate evidence)",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:52:50.367153+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.23",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: slc30a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:52:43.646787+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNK3 as ready",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:52:43.633343+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:52:38.294251+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WNK3 as Amber List (moderate evidence)",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:52:38.282217+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:52:27.772344+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1631",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PIK3C2B was added\ngene: PIK3C2B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PIK3C2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3C2B were set to PMID: 35786744\nPhenotypes for gene: PIK3C2B were set to familial partial epilepsy - MONDO#0017704\nReview for gene: PIK3C2B was set to AMBER\nAdded comment: No OMIM gene disease association.\r\n\r\nGozzelino et al.(2022) Brain - report enrichment of ultra-rare PIK3C2B variants in focal epilepsy cohorts, including one variant shown to be de novo (G1294Q). Segregation data not provided for all cases. The p.G1345S variant was inherited from an affected father. The p.K584* variant was inherited from an unaffected father suggesting incomplete penetrance. Functional studies supported a LoF mechanism and mouse model studies suggestive of mTORC1 pathway hyperactivation. \nSources: Literature",
"entity_name": "PIK3C2B",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:52:00.951536+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNK3 as ready",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:52:00.940030+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnk3 has been classified as Green List (High Evidence).",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:51:58.582494+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SLC30A7 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-07-14T11:51:05.671818+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WNK3 as Green List (high evidence)",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:51:05.657804+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnk3 has been classified as Green List (High Evidence).",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:49:41.855909+10:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPH were changed from Exertional heat illness; malignant hyperthermia susceptibility HP:0002047, ASPH-related to Exertional heat illness; malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:49:20.790867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPH were changed from Traboulsi syndrome , MIM#601552 to Traboulsi syndrome , MIM#601552; Exertional heat illness; malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:49:19.188077+10:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPH as ready",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:49:19.179865+10:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asph has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:48:55.663749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASPH were set to 24768550; 30194805; 34018898",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:48:25.417440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASPH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:47:44.141209+10:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPH were changed from Exertional heat illness; malignant hyperthermia susceptibility to Exertional heat illness; malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:46:12.985017+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:46:07.470201+10:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASPH as Amber List (moderate evidence)",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:46:07.452468+10:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asph has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:45:48.772579+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: ACOX1 as ready",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:45:48.760913+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: acox1 has been classified as Green List (High Evidence).",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:45:40.261219+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:45:18.047630+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.41",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:45:01.377101+10:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPH as ready",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:45:01.366228+10:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asph has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:44:57.638574+10:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPH were changed from Exertional heat illness; malignant hyperthermia susceptibility to Exertional heat illness; malignant hyperthermia susceptibility HP:0002047, ASPH-related",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:44:55.974186+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.41",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: ACOX1 were changed from to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:44:30.907351+10:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASPH as Amber List (moderate evidence)",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:44:30.897194+10:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asph has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:44:24.450264+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.40",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:44:02.156658+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.40",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACOX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:43:36.203766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.130",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: SLC30A7 was added\ngene: SLC30A7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC30A7 were set to PMID: 35751429\nPhenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related\nReview for gene: SLC30A7 was set to AMBER\nAdded comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported. \nSources: Literature",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:43:02.777830+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.489",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: ACOX1 as ready",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:43:02.763859+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.489",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: acox1 has been classified as Green List (High Evidence).",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:42:44.383958+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.489",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ACOX1 as Green List (high evidence)",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:42:44.374907+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.489",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: acox1 has been classified as Green List (High Evidence).",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:42:03.692703+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHMP3 as ready",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:42:03.680020+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:41:23.866300+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.488",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: ACOX1 was added\ngene: ACOX1 was added to Regression. Sources: Literature\nMode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACOX1 were set to 32169171; 35715200\nPhenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960\nReview for gene: ACOX1 was set to GREEN\nAdded comment: Mono-allelic variants (recurrent de novo missense, N237S) associated with Mitchell syndrome (MITCH): a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Bi-allelic variants cause a peroxisomal disorder characterised by neonatal hypotonia, seizures, apneic spells, delayed psychomotor development, and neurologic regression. \nSources: Literature",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:41:21.697854+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.115",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: SLC30A7 was added\ngene: SLC30A7 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC30A7 were set to PMID: 35751429\nPhenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related\nReview for gene: SLC30A7 was set to AMBER\nAdded comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported. \nSources: Literature",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:41:13.084365+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHMP3 as Amber List (moderate evidence)",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:41:13.075926+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:40:19.683106+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHMP3 as ready",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:40:19.671450+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:40:16.798407+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHMP3 as Amber List (moderate evidence)",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:40:16.789376+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:39:56.665074+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4851",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: PABPC1 as Green List (high evidence)",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:39:56.655843+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4851",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: pabpc1 has been classified as Green List (High Evidence).",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:39:55.565701+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.130",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 35697689; Phenotypes: Exertional heat illness, malignant hyperthermia susceptibility; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:39:41.073721+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1630",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: WNK3 was added\ngene: WNK3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: WNK3 were set to 35678782\nPhenotypes for gene: WNK3 were set to Neurodevelopmental disorder, WNK3-related (MONDO#0700092)\nReview for gene: WNK3 was set to GREEN\nAdded comment: 6 maternally inherited hemizygous variants, 3 missense and 3 LOF. Seen in 14 individuals from 6 families. The variants cosegregated with disease in 3 families with multiple affected individuals. Phenotype described as intellectual disability, with the variable presence of seizures and structural brain defects. One family previously had a clinical diagnosis of X-linked Prieto syndrome. \nSources: Literature",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:39:40.524312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHMP3 as ready",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:39:40.489678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:39:27.227789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHMP3 as Amber List (moderate evidence)",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:39:27.216949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:39:20.123642+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4850",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: PABPC1 as Green List (high evidence)",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:39:20.107700+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4850",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: pabpc1 has been classified as Green List (High Evidence).",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:39:15.100033+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.31",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: SLC30A7 was added\ngene: SLC30A7 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC30A7 were set to PMID: 35751429\nPhenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related\nReview for gene: SLC30A7 was set to AMBER\nAdded comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported. \nSources: Literature",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:59.772538+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHMP3 as ready",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:59.757888+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:56.289165+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4850",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: PABPC1 as Green List (high evidence)",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:56.257122+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4850",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: pabpc1 has been classified as Green List (High Evidence).",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:55.597283+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHMP3 as Amber List (moderate evidence)",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:55.585272+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHMP3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:32.805923+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4849",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: PABPC1 as ready",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:32.739113+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4849",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: pabpc1 has been classified as Red List (Low Evidence).",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:11.412925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: PABPC1 as ready",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:11.373615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: pabpc1 has been classified as Green List (High Evidence).",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:10.571123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: PABPC1 as Green List (high evidence)",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:10.557983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: pabpc1 has been classified as Green List (High Evidence).",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:06.419030+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4849",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: PABPC1 was added\ngene: PABPC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PABPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PABPC1 were set to PMID: 35511136\nPhenotypes for gene: PABPC1 were set to Neurodevelopmental disorder, PABPC1-related (MONDO#0700092)\nReview for gene: PABPC1 was set to GREEN\nAdded comment: PMID: 35511136 - 4 probands with an overlapping phenotype of DD, expressive speech delay, and autistic features and heterozygous de novo variants that cluster in the PABP domain of PABPC1.\r\nElectroporation of mouse embryo brains showed that Pabpc1 knockdown decreases the proliferation of neural progenitor cells. Wild-type Pabpc1 could rescue this disturbance, whereas 3 of the 4 variants did not. \nSources: Literature",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:38:02.213501+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.129",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: WNK3 was added\ngene: WNK3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: WNK3 were set to 35678782\nPhenotypes for gene: WNK3 were set to Neurodevelopmental disorder, WNK3-related (MONDO#0700092)\nAdded comment: 6 individuals with microcephaly all at -2 to -2.4SD so leaving as amber for now. Individuals also had ID and other features \nSources: Literature",
"entity_name": "WNK3",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:37:55.236219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.128",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: PABPC1 was added\ngene: PABPC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PABPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PABPC1 were set to PMID: 35511136\nPhenotypes for gene: PABPC1 were set to Neurodevelopmental disorder, PABPC1-related (MONDO#0700092)\nReview for gene: PABPC1 was set to GREEN\nAdded comment: PMID: 35511136 - 4 probands with an overlapping phenotype of DD, expressive speech delay, and autistic features and heterozygous de novo variants that cluster in the PABP domain of PABPC1.\r\nElectroporation of mouse embryo brains showed that Pabpc1 knockdown decreases the proliferation of neural progenitor cells. Wild-type Pabpc1 could rescue this disturbance, whereas 3 of the 4 variants did not. \nSources: Literature",
"entity_name": "PABPC1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:37:09.496513+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.22",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: SLC30A7 was added\ngene: SLC30A7 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC30A7 were set to PMID: 35751429\nPhenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related\nReview for gene: SLC30A7 was set to AMBER\nAdded comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported. \nSources: Literature",
"entity_name": "SLC30A7",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:37:06.378757+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.272",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: ACOX1 as ready",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-07-14T11:37:06.366947+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.272",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: acox1 has been classified as Green List (High Evidence).",
"entity_name": "ACOX1",
"entity_type": "gene"
}
]
}