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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1431",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1429",
"results": [
{
"created": "2021-01-31T20:29:17.747960+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTLC1 as Green List (high evidence)",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:29:17.737525+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptlc1 has been classified as Green List (High Evidence).",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:29:06.590994+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTLC1 was added\ngene: SPTLC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926\nPhenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, MIM#\t162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)\nReview for gene: SPTLC1 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:23:56.194405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:23:56.183875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:23:42.462665+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUOX were changed from to Sulfite oxidase deficiency, MIM# 272300",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:23:24.405958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUOX were set to ",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:22:57.245658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:22:31.776419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 9428520, 15952210, 31127934; Phenotypes: Sulfite oxidase deficiency, MIM# 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:22:03.346244+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUOX: Changed publications: 9428520, 15952210, 31127934; Changed phenotypes: Sulfite oxidase deficiency, MIM# 272300",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:20:33.885179+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:20:33.873653+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:20:29.215072+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUOX as Green List (high evidence)",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:20:29.204853+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T20:20:18.352167+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUOX was added\ngene: SUOX was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUOX were set to 9428520; 15952210; 31127934]\nPhenotypes for gene: SUOX were set to Sulfite oxidase deficiency, MIM#\t272300\nReview for gene: SUOX was set to GREEN\nAdded comment: More than 5 unrelated families reported. \nSources: Expert list",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:25:23.213589+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TALDO1 as ready",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:25:23.206355+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taldo1 has been classified as Green List (High Evidence).",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:25:18.722388+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TALDO1 as Green List (high evidence)",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:25:18.714932+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taldo1 has been classified as Green List (High Evidence).",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:25:08.168117+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TALDO1 was added\ngene: TALDO1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TALDO1 were set to Transaldolase deficiency\t, MIM#606003\nReview for gene: TALDO1 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:22:33.354026+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAT as ready",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:22:33.346241+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tat has been classified as Green List (High Evidence).",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:22:24.984596+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAT as Green List (high evidence)",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:22:24.976873+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tat has been classified as Green List (High Evidence).",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:22:16.061197+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAT was added\ngene: TAT was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TAT were set to Tyrosinemia, type II, MIM#\t276600\nReview for gene: TAT was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:20:22.069989+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCN2 as ready",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:20:22.057380+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:20:17.343805+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCN2 as Green List (high evidence)",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:20:17.335813+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:20:06.358276+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCN2 was added\ngene: TCN2 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCN2 were set to 19373259\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350\nReview for gene: TCN2 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-01-31T18:17:32.409815+11:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Changed child panels to: Congenital Disorders of Glycosylation; Neurotransmitter Defects; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Miscellaneous Metabolic Disorders; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Metabolic renal disease; Hypomagnesaemia; Vitamin C Pathway Disorders; Porphyria; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-31T18:07:11.687380+11:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Miscellaneous Metabolic Disorders; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Hypomagnesaemia; Metabolic renal disease; Porphyria; Vitamin C Pathway Disorders; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-31T18:06:28.144550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150",
"entity_name": "PDE2A",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:51:35.383064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADH5 were changed from Aplastic anaemia; myelodysplasia; short stature to AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature",
"entity_name": "ADH5",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:51:13.409074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADH5: Changed phenotypes: AMED syndrome, digenic, MIM# 619151, Aplastic anaemia, myelodysplasia, short stature",
"entity_name": "ADH5",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:50:57.045496+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADH5 were changed from Aplastic anaemia; myelodysplasia; short stature to AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature",
"entity_name": "ADH5",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:50:24.680388+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADH5: Changed phenotypes: AMED syndrome, digenic, MIM# 619151, Aplastic anaemia, myelodysplasia, short stature",
"entity_name": "ADH5",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:49:08.435605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDE2A: Changed phenotypes: Paroxysmal dyskinesia, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150",
"entity_name": "PDE2A",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:48:51.511777+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150",
"entity_name": "PDE2A",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:48:18.613769+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDE2A: Changed phenotypes: Paroxysmal dyskinesia, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150",
"entity_name": "PDE2A",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:47:29.032498+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150",
"entity_name": "PDE2A",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:46:51.855201+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDE2A: Changed phenotypes: Paroxysmal dyskinesia, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150",
"entity_name": "PDE2A",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:45:41.142565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM13 were changed from Retinal dystrophy to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:45:20.895561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRDM13: Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:45:03.581554+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM13 were changed from Macular dystrophy, North Carolina type, MIM#136550 to Macular dystrophy, North Carolina type, MIM#136550; Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:44:42.418984+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRDM13: Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:41:37.452033+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOS1AP as ready",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:41:37.436718+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos1ap has been classified as Green List (High Evidence).",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:41:14.550859+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOS1AP as Green List (high evidence)",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:41:14.543105+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos1ap has been classified as Green List (High Evidence).",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:40:43.079504+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOS1AP was added\ngene: NOS1AP was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: NOS1AP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NOS1AP were set to Nephrotic syndrome, type 22, MIM# 619155\nReview for gene: NOS1AP was set to GREEN\nAdded comment: Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant. Two unrelated families and animal model.\r\n\r\nNo PMID yet: https://advances.sciencemag.org/content/7/1/eabe1386 \nSources: Literature",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:38:57.594240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOS1AP were changed from to Nephrotic syndrome, type 22, MIM# 619155",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:38:34.601736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOS1AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:38:09.478332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOS1AP as Green List (high evidence)",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:38:09.470369+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos1ap has been classified as Green List (High Evidence).",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:37:50.211913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:37:40.192582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NOS1AP: Added comment: Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant.\r\n\r\nTwo unrelated families and animal model.\r\n\r\nNo PMID yet: https://advances.sciencemag.org/content/7/1/eabe1386; Changed rating: GREEN; Changed phenotypes: Nephrotic syndrome, type 22, MIM# 619155; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOS1AP",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:34:22.513007+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBEA were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Intellectual disability; Seizures",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:33:52.373495+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NBEA: Changed phenotypes: Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157, Intellectual disability, Seizures",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:33:20.715574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBEA were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Intellectual disability; Seizures",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:32:55.076146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NBEA: Changed phenotypes: Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157, Intellectual disability, Seizures",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:32:33.130378+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBEA were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM#\t619157; Intellectual disability; Seizures",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:31:53.079835+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NBEA: Changed phenotypes: Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157, Intellectual disability, Seizures",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:30:39.312294+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCT as ready",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:30:39.301784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dct has been classified as Green List (High Evidence).",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:30:29.450410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCT as Green List (high evidence)",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:30:29.442694+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dct has been classified as Green List (High Evidence).",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:30:10.472121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCT was added\ngene: DCT was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCT were set to 33100333\nPhenotypes for gene: DCT were set to Oculocutaneous albinism, type VIII, MIM# 619165\nReview for gene: DCT was set to GREEN\nAdded comment: Two unrelated families reported. Functional data including mouse model. \nSources: Expert list",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:28:41.264299+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHD as ready",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:28:41.253469+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Green List (High Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:28:37.991391+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHD were changed from to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:28:06.168695+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDHD were set to ",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:27:32.688527+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCT as ready",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:27:32.677006+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dct has been classified as Green List (High Evidence).",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:27:25.727562+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCT as Green List (high evidence)",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:27:25.719707+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dct has been classified as Green List (High Evidence).",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:26:55.338546+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCT was added\ngene: DCT was added to Ocular and Oculocutaneous Albinism. Sources: Literature\nMode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCT were set to 33100333\nPhenotypes for gene: DCT were set to Oculocutaneous albinism, type VIII, MIM#\t619165\nReview for gene: DCT was set to GREEN\nAdded comment: Two unrelated families reported. Functional data including mouse model. \nSources: Literature",
"entity_name": "DCT",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:24:07.027257+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:23:35.170652+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367056, 26008905; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:19:13.581095+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHAF1 were changed from Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:18:51.904118+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHAF1 were changed from Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:18:38.887145+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHAF1 as ready",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:18:38.849646+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhaf1 has been classified as Green List (High Evidence).",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:18:30.197790+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:17:46.321770+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDHAF1 were set to ",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:17:03.886090+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:16:31.757060+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:15:41.345823+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHAF1 as ready",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:15:41.333628+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhaf1 has been classified as Green List (High Evidence).",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:15:33.795332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:15:14.131694+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDHAF1 were set to ",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:14:54.707686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:14:26.963594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:12:48.251098+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHAF1 as ready",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:12:48.231415+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhaf1 has been classified as Green List (High Evidence).",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:12:41.312435+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:12:09.233643+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDHAF1 were set to ",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:11:35.595345+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:11:05.477021+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:07:00.291421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome to Hermansky–Pudlak syndrome 11, MIM#619172",
"entity_name": "BLOC1S5",
"entity_type": "gene"
}
]
}