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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1329",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1327",
"results": [
{
"created": "2021-05-07T12:38:59.273686+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.80",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dync1i2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:38:52.722616+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.80",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DYNC1I2 as Amber List (moderate evidence)",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:38:52.709053+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.80",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dync1i2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:37:08.428361+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.79",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: FITM2 as ready",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:37:08.405734+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.79",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fitm2 has been classified as Red List (Low Evidence).",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:35:58.730841+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCD as ready",
"entity_name": "SCD",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:35:58.720053+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scd has been classified as Red List (Low Evidence).",
"entity_name": "SCD",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:35:47.472532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCD as Red List (low evidence)",
"entity_name": "SCD",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:35:47.462196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scd has been classified as Red List (Low Evidence).",
"entity_name": "SCD",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:35:35.539621+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.79",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TMEM94 as ready",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:35:35.528030+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.79",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tmem94 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:35:22.888685+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.79",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TMEM94 as Amber List (moderate evidence)",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:35:22.877226+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.79",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tmem94 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:34:58.262530+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPYSL5 was added\ngene: DPYSL5 was added to Callosome. Sources: Literature\nMode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DPYSL5 were set to 33894126\nPhenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities\nReview for gene: DPYSL5 was set to GREEN\nAdded comment: Nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. The recurrent de novo p.Glu41Lys was found in eight unrelated patients, and a p.Gly47Arg variant was identified in one individual from the first family reported with Ritscher-Schinzel syndrome. Both impaired DPYSL5 function on dendritic outgrowth regulation by preventing the formation of the ternary complex with MAP2 and βIII-tubulin, ultimately leading to abnormal brain development. \nSources: Literature",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:34:28.433166+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPYSL5 as ready",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:34:28.422547+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpysl5 has been classified as Green List (High Evidence).",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:34:23.978301+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPYSL5 as Green List (high evidence)",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:34:23.965754+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpysl5 has been classified as Green List (High Evidence).",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:33:51.307068+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPYSL5 was added\ngene: DPYSL5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DPYSL5 were set to 33894126\nPhenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities\nReview for gene: DPYSL5 was set to GREEN\nAdded comment: Nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. The recurrent de novo p.Glu41Lys was found in eight unrelated patients, and a p.Gly47Arg variant was identified in one individual from the first family reported with Ritscher-Schinzel syndrome. Both impaired DPYSL5 function on dendritic outgrowth regulation by preventing the formation of the ternary complex with MAP2 and βIII-tubulin, ultimately leading to abnormal brain development. \nSources: Literature",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:33:19.865873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPYSL5 as ready",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:33:19.856376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpysl5 has been classified as Green List (High Evidence).",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:32:14.018896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPYSL5 as Green List (high evidence)",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:32:14.000966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpysl5 has been classified as Green List (High Evidence).",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:31:24.642105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIN3B as ready",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:31:24.632865+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sin3b has been classified as Green List (High Evidence).",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:31:15.463637+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIN3B as ready",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:31:15.449108+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sin3b has been classified as Green List (High Evidence).",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:31:10.720282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIN3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:30:53.449310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIN3B as Green List (high evidence)",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:30:53.435739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sin3b has been classified as Green List (High Evidence).",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:30:44.721164+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIN3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:30:16.667396+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIN3B as Green List (high evidence)",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:30:16.658475+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sin3b has been classified as Green List (High Evidence).",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:29:11.572037+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS41 as ready",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:29:11.560650+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps41 has been classified as Green List (High Evidence).",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:29:07.504659+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS41 as Green List (high evidence)",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:29:07.494123+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps41 has been classified as Green List (High Evidence).",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:28:54.314549+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS41 was added\ngene: VPS41 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS41 were set to 32808683; 33764426\nPhenotypes for gene: VPS41 were set to Dystonia; intellectual disability; ataxia; cerebellar atrophy\nReview for gene: VPS41 was set to GREEN\nAdded comment: 10 individuals from 6 unrelated families reported with a progressive neurodevelopmental disorder. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia developed in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy. Brain MRI revealed mild cerebellar atrophy and vermian atrophy without other major structural abnormalities in most affected individuals. \nSources: Literature",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:28:06.270521+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS41 as ready",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:28:06.260138+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps41 has been classified as Green List (High Evidence).",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:27:34.164160+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.78",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ZNF469 as ready",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:27:34.152379+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.78",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: znf469 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:27:24.338590+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.78",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1, 229200 (3) to Brittle cornea syndrome 1, MIM #229200",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:27:08.445203+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS41 as Green List (high evidence)",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:27:08.435997+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps41 has been classified as Green List (High Evidence).",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:27:06.972212+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.77",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ZNF469 as Red List (low evidence)",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:27:06.960462+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.77",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: znf469 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:26:38.347745+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS41 was added\ngene: VPS41 was added to Regression. Sources: Literature\nMode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS41 were set to 32808683; 33764426\nPhenotypes for gene: VPS41 were set to Dystonia; intellectual disability\nReview for gene: VPS41 was set to GREEN\nAdded comment: 10 individuals from 6 unrelated families reported with a progressive neurodevelopmental disorder. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia developed in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy. \nSources: Literature",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:26:24.995922+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.76",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: FAM161A as ready",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:26:24.984039+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.76",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fam161a has been classified as Red List (Low Evidence).",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:26:15.634501+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.76",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: FAM161A were changed from Retinitis pigmentosa 28, 606068 (3) to Retinitis pigmentosa 28, MIM #606068",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:25:58.562911+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.75",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: FAM161A as Red List (low evidence)",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:25:58.550912+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.75",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fam161a has been classified as Red List (Low Evidence).",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:25:30.810022+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.74",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: IMPG2 as ready",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:25:30.796034+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.74",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: impg2 has been classified as Red List (Low Evidence).",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:25:26.554005+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.74",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: IMPG2 were changed from Retinitis pigmentosa 56, 613581 (3) to Retinitis pigmentosa 56, MIM #613801",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:25:06.322093+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.73",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: IMPG2 as Red List (low evidence)",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:25:06.312187+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.73",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: impg2 has been classified as Red List (Low Evidence).",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:24:49.060521+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.72",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PDE6B as ready",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:24:49.048755+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.72",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pde6b has been classified as Red List (Low Evidence).",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:24:47.805948+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS41 were set to 32808683",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:24:41.281251+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.72",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6B were changed from Retinitis pigmentosa-40, 613801 (3) to Retinitis pigmentosa-40, MIM #613801",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:24:34.980309+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS41 as Green List (high evidence)",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:24:34.969690+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps41 has been classified as Green List (High Evidence).",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:24:20.210106+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS41: Added comment: Another 9 individuals from 5 unrelated families reported. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia were present in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy.; Changed rating: GREEN; Changed publications: 32808683, 33764426",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:24:15.142703+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.71",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PDE6B as Red List (low evidence)",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:24:15.107278+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.71",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pde6b has been classified as Red List (Low Evidence).",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:23:51.438987+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS41 were set to 32808683",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:23:20.522536+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS41 as Green List (high evidence)",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:23:20.512345+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps41 has been classified as Green List (High Evidence).",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:22:51.393976+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS41: Added comment: Another 9 individuals from 5 unrelated families reported.\r\n\r\nAffected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia were present in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy.; Changed rating: GREEN; Changed publications: 32808683, 33764426",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:20:58.898627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS41 were set to 32808683",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:20:34.614107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS41 as Green List (high evidence)",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:20:34.600927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps41 has been classified as Green List (High Evidence).",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:19:17.303322+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD17 were set to ",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:18:48.716373+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD17 as Green List (high evidence)",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:18:48.707033+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd17 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:17:47.029264+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD17 were set to ",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:17:10.780253+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD17 as Green List (high evidence)",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:17:10.771289+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd17 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:15:59.965031+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD17 as Amber List (moderate evidence)",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:15:59.955171+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:15:30.123843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD17 were set to ",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:15:13.112353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD17 as Green List (high evidence)",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:15:13.100067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd17 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:14:47.191577+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD17 were set to ",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:14:39.345619+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD17 as Green List (high evidence)",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:14:39.333915+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd17 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:09:16.303395+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAG2 as ready",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:09:16.293769+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag2 has been classified as Green List (High Evidence).",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:09:12.344170+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAG2 as Green List (high evidence)",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:09:12.334141+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag2 has been classified as Green List (High Evidence).",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:08:48.614184+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAG2 was added\ngene: JAG2 was added to Muscular dystrophy_Paediatric. Sources: Literature\nMode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JAG2 were set to 33861953\nPhenotypes for gene: JAG2 were set to muscular dystrophy\nReview for gene: JAG2 was set to GREEN\nAdded comment: Whole-exome sequencing identified 13 families with rare homozygous or compound heterozygous JAG2 variants. Bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood. Serum creatine kinase (CK) levels were normal or mildly elevated. Muscle histology was primarily dystrophic. MRI of the lower extremities revealed a distinct, slightly asymmetric pattern of muscle involvement with cores of preserved and affected muscles in quadriceps and tibialis anterior, in some cases resembling patterns seen in POGLUT1-associated muscular dystrophy. \nSources: Literature",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:04:46.309035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAG2 as ready",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:04:46.297513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag2 has been classified as Green List (High Evidence).",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:03:40.745794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAG2 as Green List (high evidence)",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:03:40.735940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag2 has been classified as Green List (High Evidence).",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T11:51:51.326026+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEPRO as Amber List (moderate evidence)",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2021-05-07T11:51:51.316186+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nepro has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2021-05-07T11:51:26.683474+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEPRO was added\ngene: NEPRO was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: NEPRO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEPRO were set to 26633546; 29620724; 31250547\nPhenotypes for gene: NEPRO were set to Anauxetic dysplasia 3, MIM618853\nReview for gene: NEPRO was set to AMBER\nAdded comment: PMIDs 26633546, 29620724: 2 families with the same homozygous missense variant, haplotype analysis confirmed the founder nature of the variant. PMID 31250547: 1 family with homozygous novel missense All 5 affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. No functional studies. \nSources: Literature",
"entity_name": "NEPRO",
"entity_type": "gene"
}
]
}