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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1010",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1008",
"results": [
{
"created": "2022-02-02T12:09:24.811122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhx has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:08:49.960202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHX as ready",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:08:49.949761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhx has been classified as Green List (High Evidence).",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:08:40.730268+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHX were changed from to Lactic acidaemia due to PDX1 deficiency MIM#245349",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-02-02T12:08:16.148095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDHX were set to ",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:49:47.624459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDHX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:49:20.892850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: PDHX.",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:48:54.652703+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRRAP as ready",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:48:54.642311+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trrap has been classified as Green List (High Evidence).",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:48:48.055843+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRRAP as Green List (high evidence)",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:48:48.044747+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trrap has been classified as Green List (High Evidence).",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:48:10.950753+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PD as ready",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:48:10.939015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Red List (Low Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:48:03.846387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: G6PD as Red List (low evidence)",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:48:03.822877+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Red List (Low Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:47:14.937302+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NT5C3A as ready",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:47:14.927450+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nt5c3a has been classified as Red List (Low Evidence).",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:47:09.577995+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NT5C3A were changed from HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY to Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:46:56.127376+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NT5C3A were set to ",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:46:33.075521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10863",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: MVD: Rating: RED; Mode of pathogenicity: None; Publications: 34135477; Phenotypes: Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MVD",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:46:15.918227+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV1 as ready",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:46:15.908331+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv1 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:46:08.243152+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFV1 were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:45:54.382297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFV1 were set to ",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:44:50.194509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS8 as ready",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:44:50.178855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs8 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:44:37.017839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:44:14.687337+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS8 were set to ",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:43:49.479119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:41:46.779365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV1 as ready",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:41:46.769803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:41:37.658839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:41:09.859017+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFV1 were set to ",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:40:37.053975+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:40:21.431054+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A6 were set to 23714752",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:39:48.644713+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A6 as Green List (high evidence)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:39:48.635368+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Green List (High Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:23:53.472971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10857",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: FZR1 as ready",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:23:53.459200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10857",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: fzr1 has been classified as Green List (High Evidence).",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:23:40.680883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10857",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: FZR1 as Green List (high evidence)",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:23:40.670884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10857",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: fzr1 has been classified as Green List (High Evidence).",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:23:13.910296+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1446",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: FZR1 as ready",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:23:13.898950+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1446",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: fzr1 has been classified as Green List (High Evidence).",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:23:08.686413+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1446",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: FZR1 as Green List (high evidence)",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:23:08.671921+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1446",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: fzr1 has been classified as Green List (High Evidence).",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:22:16.337347+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.112",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: COL4A6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33840813; Phenotypes: ?Deafness, X-linked 6, MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:20:27.037698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A6 as Green List (high evidence)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:20:27.026126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Green List (High Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:16:33.717117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10855",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SEZ6 as ready",
"entity_name": "SEZ6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:16:33.704981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10855",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: sez6 has been classified as Red List (Low Evidence).",
"entity_name": "SEZ6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:16:17.458320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10855",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SEZ6 as Red List (low evidence)",
"entity_name": "SEZ6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:16:17.446347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10855",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: sez6 has been classified as Red List (Low Evidence).",
"entity_name": "SEZ6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:15:59.215057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS1 as ready",
"entity_name": "ADAMTS1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:15:59.202101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts1 has been classified as Red List (Low Evidence).",
"entity_name": "ADAMTS1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:15:45.241590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS1 as Red List (low evidence)",
"entity_name": "ADAMTS1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:15:45.219603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts1 has been classified as Red List (Low Evidence).",
"entity_name": "ADAMTS1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:14:01.655449+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10853",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: MPDZ: Rating: AMBER; Mode of pathogenicity: None; Publications: 34135477, 29026089; Phenotypes: Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:13:19.575785+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBL2 as ready",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:13:19.556575+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:13:05.949945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHDDS were set to 27343064; 29100083; 21295283",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:12:40.161562+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBL2 were changed from PMID: 33980986; 32105419; 9806916 to Brunet-Wagner neurodevelopmental syndrome, MIM# 619690",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:12:05.272793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITSN1 were changed from Nephrotic syndrome to Nephrotic syndrome; Neurodevelopmental disorder MONDO:0700092, ITSN1-related",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:11:43.651841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITSN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:11:39.600261+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBL2 as Amber List (moderate evidence)",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:11:39.586200+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:11:23.994109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10850",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: ATP5O as ready",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:11:23.982246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10850",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Red List (Low Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:11:02.035023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10850",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34382076; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:10:52.610450+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBL2 as Amber List (moderate evidence)",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:10:52.598484+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:10:28.197638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10850",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ATP5O as Red List (low evidence)",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:10:28.157660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10850",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: atp5o has been classified as Red List (Low Evidence).",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:09:28.575494+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOD1 as ready",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:09:28.555219+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sod1 has been classified as Green List (High Evidence).",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:09:23.859363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10849",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: ITSN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34707297; Phenotypes: neurodevelopmental disorder MONDO:0700092, ITSN1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:09:20.244024+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1442",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RBL2 was added\ngene: RBL2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBL2 were set to PMID: 33980986; 32105419; 9806916\nPhenotypes for gene: RBL2 were set to PMID: 33980986; 32105419; 9806916\nReview for gene: RBL2 was set to AMBER\nAdded comment: PMID: 33980986: 2 unrelated patients (3 total) with infantile hypotonia, severe developmental delay and microcephaly. Functional studies on patient fibroblasts supports loss of protein and mRNA expression. Patients were homozygous for a PTC, and a CNV (exon 4-5 del)\r\n\r\nPMID: 32105419: affecting siblings with severe intellectual disability, stereotypies and dysmorphic features. Chet PTC/CNV (exon 13-17 del).\r\n\r\n3 unrelated families - 2/3 corpus callosum hypoplasia/cerebral atrophy, 2/3 epilepsy, 2/3 microcephaly\r\n\r\nPMID: 9806916: mouse model in support \nSources: Literature",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:09:20.233769+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOD1 as Green List (high evidence)",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:09:20.224460+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sod1 has been classified as Green List (High Evidence).",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:09:07.479237+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.23",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: SOD1 was added\ngene: SOD1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: SOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SOD1 were set to PMID: 31314961; 31332433; 34788402\nPhenotypes for gene: SOD1 were set to Spastic tetraplegia and axial hypotonia, progressive, MIM#618598\nReview for gene: SOD1 was set to GREEN\nAdded comment: Three individuals reported with biallelic LoF variants, with two apparently unrelated individuals having the same variant (c.335dupG). \r\n\r\nPhenotypes include one individual with axial hypotonia and loss of gross and fine motor function beginning at 6 months of age, after which severe, progressive spastic tetraparesis developed and Babinski’s sign was present in both feet. MRI of brain detected mild frontoparietal atrophy.\r\n\r\nThe second individual had severe and marked by progressive loss of motor abilities from 9 months of age, tetraspasticity with predominance in the lower extremities, mild cerebellar atrophy, and hyperekplexia-like symptoms. Dysmorphic features such as low set, posteriorly rotated ears, and overlapping toes.\r\n\r\nThe third individual is an infant with severe global developmental delay, axial hypotonia and limb spasticity. No dysmorphic facial features were noted, but she had a high arched palate, bilateral 5th finger clinodactyly, partial toe syndactyly of the second and third toes, and a single hyperpigmented macule tongue fasciculations, axial hypotonia with limb spasticity (more pronounced in the lower limbs), ankle clonus, and brisk patellar deep tendon reflexes. \nSources: Literature",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:08:33.699861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10849",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SEZ6 was added\ngene: SEZ6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEZ6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEZ6 were set to 34135477\nPhenotypes for gene: SEZ6 were set to Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related\nReview for gene: SEZ6 was set to RED\ngene: SEZ6 was marked as current diagnostic\nAdded comment: Homozygous missense variant p.(Val698Ile) identified in 4 affected individuals from a single consanguineous Pakistani family by WES. 5 other genotyped unaffected individuals were heterozygous or homozygous wild-type. Variant is in gnomad (36 hets, 0 hom). \r\n\r\nRNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only). \nSources: Literature",
"entity_name": "SEZ6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:07:50.296375+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOD1 as ready",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:07:50.279601+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sod1 has been classified as Green List (High Evidence).",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:07:09.212825+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOD1 as Green List (high evidence)",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:07:09.200702+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sod1 has been classified as Green List (High Evidence).",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:05:49.067512+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITSN1 as ready",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:05:49.057120+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itsn1 has been classified as Green List (High Evidence).",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:05:36.741858+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITSN1 as Green List (high evidence)",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:05:36.730525+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itsn1 has been classified as Green List (High Evidence).",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:05:26.788477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10849",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: COL4A6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33840813; Phenotypes: Hearing loss; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:05:05.401257+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.101",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: RBL2 as ready",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:05:05.388506+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.101",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rbl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:04:59.143751+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.101",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RBL2 as Amber List (moderate evidence)",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:04:59.132032+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.101",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rbl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:04:17.030741+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.32",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: BAP1 was added\ngene: BAP1 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAP1 were set to PMID: 35051358\nPhenotypes for gene: BAP1 were set to syndromic intellectual disability MONDO:0000508\nPenetrance for gene: BAP1 were set to unknown\nReview for gene: BAP1 was set to GREEN\nAdded comment: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. All affected individuals harboring a de novo BAP1 variant had DD or ID (11/11) characterized notably by speech (11/ 11) and motor delay (6/11). Most of them had hypotonia (7/11), seizures (6/11), and abnormal behavior (8/10), including autism spectrum disorder, attention deficit hyperactivity disorder, and hypersensitivity. Almost all individuals showed dysmorphic facial features (10/11), and more than half (6/11) had skeletal malformations (involving the hands [4/11], feet [3/11], or spine [2/11]). Most of the individuals had growth failure (9/11), including four individuals with a very short stature. \nSources: Literature",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:04:07.734176+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.45",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: RBL2 as ready",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:04:07.718656+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.45",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rbl2 has been classified as Red List (Low Evidence).",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:04:02.701089+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.45",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RBL2 as Red List (low evidence)",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:04:02.694363+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.45",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: pontocerebellar hypoplasia not a consistent feature",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:04:02.638756+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.45",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rbl2 has been classified as Red List (Low Evidence).",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:03:59.149895+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4486",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATP5E was added\ngene: ATP5E was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP5E were set to 34954817; 20566710; 27626380; 20026007\nPhenotypes for gene: ATP5E were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053\nPenetrance for gene: ATP5E were set to Complete\nReview for gene: ATP5E was set to AMBER\ngene: ATP5E was marked as current diagnostic\nAdded comment: 3 unrelated with the same Tyr12Cys avriant\r\n\r\n3/3 with dev delay. 2/3 with ID (the other NA) \nSources: Literature",
"entity_name": "ATP5E",
"entity_type": "gene"
}
]
}