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{
"count": 220833,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1609",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1607",
"results": [
{
"created": "2020-09-04T12:28:46.495386+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:24:55.611714+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPRKB was added\ngene: TPRKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPRKB were set to 28805828; 30053862\nPhenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731\nReview for gene: TPRKB was set to GREEN\nAdded comment: Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly. \nSources: Expert Review",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:23:01.021690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPRKB as ready",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:23:01.010411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tprkb has been classified as Green List (High Evidence).",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:22:54.813679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPRKB were changed from to Galloway-Mowat syndrome 5, MIM# 617731",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:22:39.327258+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPRKB were set to ",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:22:21.850942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPRKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:22:04.201556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, MIM# 617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:21:11.543407+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPRKB as ready",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:21:11.534695+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tprkb has been classified as Green List (High Evidence).",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:21:09.038805+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPRKB were changed from to Galloway-Mowat syndrome 5, MIM# 617731",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:20:42.891296+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPRKB were set to ",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:20:16.214671+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPRKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:19:52.190892+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, MIM# 617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:16:47.218546+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TP53RK as ready",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:16:47.207587+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp53rk has been classified as Green List (High Evidence).",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:16:41.396125+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TP53RK was added\ngene: TP53RK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TP53RK were set to 28805828; 30053862\nPhenotypes for gene: TP53RK were set to Galloway-Mowat syndrome 4, MIM# 617730\nReview for gene: TP53RK was set to GREEN\nAdded comment: At least 4 unrelated families reported with renal-neurologic disease characterised by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most individuals have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. \nSources: Expert Review",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:15:58.837184+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP53RK were changed from to Galloway-Mowat syndrome 4, MIM# 617730",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:15:11.110716+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TP53RK were set to ",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:14:31.271790+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TP53RK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:14:01.106532+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4, MIM# 617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:13:27.098814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TP53RK as ready",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:13:27.088843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp53rk has been classified as Green List (High Evidence).",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:13:21.238308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP53RK were changed from to Galloway-Mowat syndrome 4, MIM# 617730",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:13:05.009464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TP53RK were set to ",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:12:48.558868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TP53RK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:12:31.632478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4, MIM# 617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:12:21.571559+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TP53RK as ready",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:12:21.562667+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp53rk has been classified as Green List (High Evidence).",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:12:14.895716+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP53RK were changed from to Galloway-Mowat syndrome 4, MIM# 617730",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:11:45.210645+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TP53RK were set to ",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:11:19.431010+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TP53RK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:10:51.192486+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4, MIM# 617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:07:02.322548+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.29",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: CD46: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26054645, 26826462; Phenotypes: {Susceptibility to atypical hemolytic uremic syndrome 2} (MIM#612922), AD, AR, Atypical hemolytic uremic syndrome 2; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:58:55.725762+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF4 as ready",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:58:55.714238+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf4 has been classified as Green List (High Evidence).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:58:11.802953+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:57:46.950154+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCF4 were set to ",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:56:49.008963+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:56:26.064340+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 18728071, 22934316; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:52:51.350926+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBC1D20 was added\ngene: TBC1D20 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list\nMode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D20 were set to 24239381; 32740904; 32162791\nPhenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4, MIM# 615663; Martsolf syndrome\nReview for gene: TBC1D20 was set to GREEN\nAdded comment: 7 unrelated families reported with autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. One of the families is described as Martsolf syndrome, the rest as Warburg micro. \nSources: Expert list",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:51:24.810190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D20 as ready",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:51:24.802032+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d20 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:51:18.964533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM# 615663; Martsolf syndrome",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:51:01.883994+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D20 were set to ",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:50:42.912806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:50:25.509051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381, 32740904, 32162791; Phenotypes: Warburg micro syndrome 4, MIM# 615663, Martsolf syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:45:06.584795+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D20 as ready",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:45:06.560895+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d20 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:45:03.505655+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM# 615663",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:44:37.551706+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D20 were set to ",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:44:14.436538+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:43:43.874709+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM# 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:27:51.252749+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM94 was added\ngene: TMEM94 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list\nMode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM94 were set to 30526868\nPhenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316\nReview for gene: TMEM94 was set to GREEN\nAdded comment: 10 individuals from 6 unrelated families reported. \nSources: Expert list",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:23:03.393510+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX34 as ready",
"entity_name": "DHX34",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:23:03.379972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx34 has been classified as Red List (Low Evidence).",
"entity_name": "DHX34",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:22:53.851255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHX34 was added\ngene: DHX34 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DHX34 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DHX34 were set to 31256877\nPhenotypes for gene: DHX34 were set to Intellectual disability; congenital anomalies\nReview for gene: DHX34 was set to RED\nAdded comment: Three families reported. Two with bi-allelic variants and ID/multiple congenital anomalies but another molecular diagnosis present in both (variants in established genes). Single de novo missense in another individual with ID and dysmorphism. No supporting functional data. Overall RED rating for both MOI. \nSources: Literature",
"entity_name": "DHX34",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:18:26.176958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX54 as ready",
"entity_name": "DDX54",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:18:26.166711+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx54 has been classified as Red List (Low Evidence).",
"entity_name": "DDX54",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:18:14.887814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX54 was added\ngene: DDX54 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DDX54 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DDX54 were set to 31256877\nPhenotypes for gene: DDX54 were set to Intellectual disability; congenital anomalies\nReview for gene: DDX54 was set to RED\nAdded comment: Three individuals reported with different MOIs and different phenotypes. One with de novo variant and ID, another with bi-allelic variants and ID, and a third with bi-allelic variants and CAKUT. All variants are missense, no functional data. Overall, Red rating given inconsistent phenotypes and modes of inheritance, each one is essentially treated separately for now until further cases identified. \nSources: Literature",
"entity_name": "DDX54",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:08:26.538360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX16 as ready",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:08:26.526809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx16 has been classified as Green List (High Evidence).",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:08:17.746522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHX16 as Green List (high evidence)",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:08:17.730719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx16 has been classified as Green List (High Evidence).",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2020-09-04T11:07:36.656848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHX16 was added\ngene: DHX16 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHX16 were set to 31256877\nPhenotypes for gene: DHX16 were set to Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM#\t618733\nReview for gene: DHX16 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo missense variants in this gene. Three of the individuals died in infancy, so phenotypic spectrum difficult to discern. Two had seizures. Individual with long-term survival had a progressive course, evidence of myopathy, loss of hearing and vision, and normal IQ. \nSources: Literature",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:57:28.051481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHX37 were changed from 46,XY gonadal dysgenesis; testicular regression syndrome (TRS) to 46,XY gonadal dysgenesis; testicular regression syndrome (TRS); Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:57:12.036735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHX37 were set to 31337883; 31745530",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:56:52.014894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHX37 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:53:48.356974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Seventeen individuals with 46,XY gonadal dysgenesis reported in two studies. \nSources: Literature; to: Mono-allelic disease: Seventeen individuals with 46,XY gonadal dysgenesis reported in two studies. \r\nSources: Literature",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:53:31.384630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHX37: Added comment: Bi-allelic disease: 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype, which also includes congenital anomalies particularly affecting the vertebrae and heart, but also some with microcephaly, brain anomalies.; Changed publications: 31337883, 31745530, 26539891, 31256877; Changed phenotypes: 46,XY gonadal dysgenesis, testicular regression syndrome (TRS), Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:51:52.516428+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype. Green for bi-allelic disease\r\n\r\nMuch less clear association between mono-allelic variants and ID, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo. No mechanism for mono-allelic vs bi-allelic disease proposed. Overall, Red for mono-allelic disease causing a neurodevelopmental phenotype at this stage. Note there is a separate association between mono allelic variants and DSD.; to: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype. Green for bi-allelic disease\r\n\r\nMuch less clear association between mono-allelic variants and ID, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo. No mechanism for mono-allelic vs bi-allelic disease proposed. Overall, Red for mono-allelic variants causing a neurodevelopmental phenotype at this stage. Note there is a separate association between mono allelic variants and DSD.",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:51:27.576009+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype. Green for bi-allelic disease\r\n\r\nMuch less clear association between mono-allelic variants and disease, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo. No mechanism for mono-allelic vs bi-allelic disease proposed. Overall, Red for mono-allelic disease at this stage.; to: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype. Green for bi-allelic disease\r\n\r\nMuch less clear association between mono-allelic variants and ID, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo. No mechanism for mono-allelic vs bi-allelic disease proposed. Overall, Red for mono-allelic disease causing a neurodevelopmental phenotype at this stage. Note there is a separate association between mono allelic variants and DSD.",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:50:04.443698+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHX37 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:49:37.757089+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype.\r\n\r\nMuch less clear association between mono-allelic variants and disease, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo.; to: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype. Green for bi-allelic disease\r\n\r\nMuch less clear association between mono-allelic variants and disease, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo. No mechanism for mono-allelic vs bi-allelic disease proposed. Overall, Red for mono-allelic disease at this stage.",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:48:38.960384+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX37 as ready",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:48:38.951593+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx37 has been classified as Green List (High Evidence).",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:48:30.987878+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHX37 as Green List (high evidence)",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:48:30.979372+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx37 has been classified as Green List (High Evidence).",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:48:02.918508+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHX37: Rating: GREEN; Mode of pathogenicity: None; Publications: 26539891, 31256877; Phenotypes: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:29:14.819467+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2949",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: DHX37 was added\ngene: DHX37 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DHX37 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DHX37 were set to PMID: 26539891; 31256877\nPhenotypes for gene: DHX37 were set to Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731\nReview for gene: DHX37 was set to GREEN\nAdded comment: Two unrelated patients from consanguineous families reported with biallelic missense variants. Clinical presentation included severe microcephaly, DD/ID, and cortical atrophy (PMID: 26539891).\r\n\r\nFive individuals who share a phenotype of DD and/or ID and CNS dysfunction. Three out of five individuals also have scoliosis, and two have cardiac phenotypes (PMID: 31256877). Three of the patients had bialleleic missense variants, while two patients had a de novo monoallelic missense variant.\r\n\r\nNote that OMIM lists inheritance as biallelic, however two monoallelic cases reportes. \nSources: Literature",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-04T09:27:22.899985+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.18",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: TMEM94 as Green List (high evidence)",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-09-04T09:27:22.889732+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.18",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: tmem94 has been classified as Green List (High Evidence).",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-09-04T09:26:44.521066+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.17",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: TMEM94 as ready",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-09-04T09:26:44.509269+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.17",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: tmem94 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-09-04T09:26:28.121780+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.17",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: TMEM94 was added\ngene: TMEM94 was added to Hypertrichosis syndromes. Sources: Literature\nMode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM94 were set to 30526868\nPhenotypes for gene: TMEM94 were set to OMIM# 618316 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF\nReview for gene: TMEM94 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:25:10.186625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFL2 as ready",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:25:10.176735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfl2 has been classified as Green List (High Evidence).",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:25:03.809253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFL2 were changed from to Nemaline myopathy 7, autosomal recessive, MIM# 610687",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:24:44.260705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFL2 were set to ",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:24:16.266713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:23:56.317239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17160903, 22560515, 32697999, 29457652, 24610938; Phenotypes: Nemaline myopathy 7, autosomal recessive, MIM# 610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:19:33.771465+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TDRD7 were set to 28837160; 21436445",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:19:06.134721+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TDRD7: Added comment: PMID: 32420594 (2020) - Knockout mouse model recapitulates human cataracts phenotype and provides supporting functional data.; Changed publications: 28837160, 21436445, 32420594; Changed phenotypes: Cataract 36, 613887, glaucoma, nonobstructive azoospermia, arrested spermatogenesis",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:17:54.954112+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDRD7 as ready",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:17:54.941519+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdrd7 has been classified as Green List (High Evidence).",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:17:47.465412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TDRD7 were changed from Cataract 36\t613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis to Cataract 36,\t613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:17:19.518388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TDRD7 were set to 28837160; 21436445",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:15:51.731833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 36, MIM# 613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:14:16.802738+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAK3 as ready",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:14:16.791777+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak3 has been classified as Green List (High Evidence).",
"entity_name": "PAK3",
"entity_type": "gene"
}
]
}