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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=883",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=881",
"results": [
{
"created": "2022-04-15T12:25:47.516085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20015959, 34897794, 29947179, 28211986; Phenotypes: Brachydactyly, type E2, MIM# 613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTHLH",
"entity_type": "gene"
},
{
"created": "2022-04-15T12:23:05.468833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN14 as ready",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-04-15T12:23:05.457518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn14 has been classified as Green List (High Evidence).",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-04-15T12:21:57.943574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN14 were changed from to Choanal atresia and lymphoedema, MIM# 613611",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-04-15T12:21:37.623766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPN14 were set to ",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-04-15T12:21:16.537106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPN14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-04-15T12:20:57.496277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 20826270; Phenotypes: Choanal atresia and lymphoedema, MIM# 613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2022-04-15T11:00:02.377914+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:59:18.624541+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:58:58.080860+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:58:14.895198+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:57:29.996726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:57:00.798652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:55:35.054589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCNA were changed from Spermatogenic failure, X-linked, 4, MIM# 301077 to Spermatogenic failure, X-linked, 4, MIM# 301077",
"entity_name": "GCNA",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:55:28.269842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCNA were changed from primary spermatogenic failure to Spermatogenic failure, X-linked, 4, MIM# 301077",
"entity_name": "GCNA",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:54:49.653667+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GCNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure, X-linked, 4, MIM# 301077; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GCNA",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:24:05.608397+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:23:31.576605+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCF3: Changed phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:23:10.524104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:22:46.008370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCF3: Changed phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:09:12.978656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMPX were changed from Deafness, X-linked 4, MIM# 300066; Distal myopathy, adult-onset to Deafness, X-linked 4, MIM# 300066; Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2022-04-15T10:07:50.806819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMPX: Changed phenotypes: Deafness, X-linked 4, MIM# 300066, Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:37:33.320419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN22 as ready",
"entity_name": "PTPN22",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:37:33.288065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn22 has been classified as Red List (Low Evidence).",
"entity_name": "PTPN22",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:37:20.467971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPN22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN22",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:37:01.424199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPN22 as Red List (low evidence)",
"entity_name": "PTPN22",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:37:01.413699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn22 has been classified as Red List (Low Evidence).",
"entity_name": "PTPN22",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:36:40.431464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPN22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN22",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:35:06.118734+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPRO as ready",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:35:06.108648+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpro has been classified as Green List (High Evidence).",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:34:08.603592+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPRO were changed from to Nephrotic syndrome, type 6, MIM# 614196",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:33:44.457763+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPRO were set to ",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:33:20.053940+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPRO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:32:56.916513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPRO as ready",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:32:56.906433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpro has been classified as Green List (High Evidence).",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:32:42.798876+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPRO: Rating: GREEN; Mode of pathogenicity: None; Publications: 21722858, 34546508, 30065916; Phenotypes: Nephrotic syndrome, type 6, MIM# 614196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:32:41.837629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPRO were changed from to Nephrotic syndrome, type 6, MIM# 614196",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:32:24.120208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPRO were set to ",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:32:01.245998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPRO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:31:39.716803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPRO: Rating: GREEN; Mode of pathogenicity: None; Publications: 21722858, 34546508, 30065916; Phenotypes: Nephrotic syndrome, type 6, MIM# 614196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPRO",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:27:39.694213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTRH2 as ready",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:27:39.683817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptrh2 has been classified as Green List (High Evidence).",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:27:27.202291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTRH2 were changed from to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:27:06.526543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTRH2 were set to ",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:26:42.561078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTRH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:26:20.508625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2022-04-14T20:26:12.948172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PTRH2: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy.\r\n\r\nMore than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:57:25.745430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTS as ready",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:57:25.732925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pts has been classified as Green List (High Evidence).",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:57:15.566054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTS were changed from to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:56:52.399264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:56:31.089598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:55:24.867320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUM1 as ready",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:55:24.850632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pum1 has been classified as Green List (High Evidence).",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:55:13.204670+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUM1 were changed from to Spinocerebellar ataxia 47, MIM# 617931; Neurodevelopmental disorder, MONDO:0700092, PUM1-related",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:54:37.746672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUM1 were set to ",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:53:45.710366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:53:24.848653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29474920, 25768905, 30903679, 31859446; Phenotypes: Spinocerebellar ataxia 47, MIM# 617931, Neurodevelopmental disorder, MONDO:0700092, PUM1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:49:23.388350+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYCR2 as ready",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:49:23.376170+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pycr2 has been classified as Green List (High Evidence).",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:49:16.487063+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYCR2 were changed from to Leukodystrophy, hypomyelinating, 10, MIM# 616420",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:48:39.211659+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYCR2 were set to ",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:48:04.596181+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PYCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:47:27.292960+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating, 10, MIM# 616420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:46:26.714350+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYCR2 as ready",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:46:26.704520+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pycr2 has been classified as Green List (High Evidence).",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:46:22.358485+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYCR2 were changed from Leukodystrophy, hypomyelinating, 10 616420 to Leukodystrophy, hypomyelinating, 10, MIM# 616420",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:45:53.991261+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYCR2 were set to ",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:45:32.688558+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating, 10, MIM# 616420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:43:00.702284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYCR2 as ready",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:43:00.687195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pycr2 has been classified as Green List (High Evidence).",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:42:51.899156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYCR2 were changed from to Leukodystrophy, hypomyelinating, 10, MIM# 616420",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:42:29.668622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYCR2 were set to ",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:42:12.150158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12915",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: F12 was changed from to Other",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:42:01.055224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PYCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:41:36.859029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating, 10, MIM# 616420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:39:34.599214+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12914",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: F12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:39:02.002594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYROXD1 as ready",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:39:01.986917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pyroxd1 has been classified as Green List (High Evidence).",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:38:48.022924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYROXD1 were changed from to Myopathy, myofibrillar, 8 , MIM#617258",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:38:24.080294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYROXD1 were set to ",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:38:02.904770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PYROXD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:37:50.084899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12910",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "commented on gene: F12: Also associated with FXII deficiency - PMID: 29383625, 20022356, 18024408, 20386432, 26709783, 21264442, 28007010, 15205584, 30700128 - Biallalelic loss-of-function variants are a well-established cause of FXII deficiency. FXII deficiency is not associated with bleeding risk unlike other coagulation factors, it is either asymptomatic or characterized by a prolonged activated partial thromboplastin time. DEFINITIVE gene-disease validity classification by the ClinGen Hemostasis Thrombosis VCEP, Classification - 01/22/2020",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:37:39.914393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27745833; Phenotypes: Myopathy, myofibrillar, 8 , MIM#617258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:34:42.465353+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: F12 were set to 16638441; 17186468; 19178938",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:34:31.125123+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAF1 as ready",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:34:31.106131+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Green List (High Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:34:27.582217+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAF1 were changed from to Noonan syndrome 5, MIM#\t611553",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:33:50.749976+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: F12 was changed from to Other",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:33:22.510823+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAF1 were set to ",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:32:35.660975+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: F12 as Green List (high evidence)",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:32:35.646306+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: f12 has been classified as Green List (High Evidence).",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:32:04.691173+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26193639, 16638441, 17381464, 21849258, 17186468, 19178938, 30463937, 23994767; Phenotypes: Hereditary angioedema type 3 MONDO:0012526; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:30:47.861774+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RAF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:30:31.828897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12910",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26193639, 16638441, 17381464, 21849258, 17186468, 19178938, 30463937, 23994767; Phenotypes: Hereditary angioedema type 3 MONDO:0012526; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:30:20.388331+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:29:24.450496+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RIT1: Changed phenotypes: Noonan syndrome-8, MIM:#615355; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:29:01.628996+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIT1 as ready",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:29:01.607869+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rit1 has been classified as Green List (High Evidence).",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2022-04-14T16:28:57.084514+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIT1 were changed from to Noonan syndrome-8, MIM:#615355",
"entity_name": "RIT1",
"entity_type": "gene"
}
]
}