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{
"count": 220293,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1365",
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"results": [
{
"created": "2021-04-02T15:40:07.948532+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAIP were set to ",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:39:32.902660+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRAIP: Added comment: Three families reported, though two distantly related (founder); functional data.; Changed publications: 26595769",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:38:54.728169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAIP as ready",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:38:54.718584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traip has been classified as Green List (High Evidence).",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:38:44.521808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAIP were changed from to Seckel syndrome 9, MIM# 616777",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:38:23.919273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAIP were set to ",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:38:06.930460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:37:48.358299+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26595769; Phenotypes: Seckel syndrome 9, MIM# 616777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:36:58.504808+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAIP as ready",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:36:58.494249+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traip has been classified as Green List (High Evidence).",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:36:55.980325+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAIP were changed from to Seckel syndrome 9, MIM# 616777",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:36:28.032084+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAIP were set to ",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:35:58.908920+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:35:31.581811+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26595769; Phenotypes: Seckel syndrome 9, MIM# 616777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:31:48.161701+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOP3A as ready",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:31:48.150870+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top3a has been classified as Green List (High Evidence).",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:31:45.298512+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:31:19.720135+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOP3A were set to ",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:30:21.035133+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:29:47.263341+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320, 29290614; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:29:05.833096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOP3A were set to 30057030; 33631320",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:28:45.889058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOP3A: Changed publications: 30057030, 33631320, 29290614",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:26:34.667050+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOP3A: Changed phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:26:20.053581+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOP3A as ready",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:26:20.030007+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top3a has been classified as Green List (High Evidence).",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:26:18.347896+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOP3A were changed from Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809 to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:25:58.947100+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:25:16.092520+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOP3A were set to ",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:24:52.533882+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:24:22.317064+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:23:39.043294+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOP3A as ready",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:23:39.033463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top3a has been classified as Green List (High Evidence).",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:23:31.588986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:23:14.620552+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOP3A were set to ",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:22:53.434789+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:22:36.222964+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:20:34.309795+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOP3A as ready",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:20:34.300663+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top3a has been classified as Green List (High Evidence).",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:20:26.338926+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:20:03.469849+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOP3A were set to ",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:19:37.912052+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:19:08.334752+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:16:13.869826+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIL as ready",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:16:13.859629+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stil has been classified as Green List (High Evidence).",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:16:09.693127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STIL were changed from to Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO:0012989",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:15:33.424841+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STIL were set to ",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:15:03.711292+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:14:26.161007+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703, MONDO:0012989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:13:46.545485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIL as ready",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:13:46.531139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stil has been classified as Green List (High Evidence).",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:13:39.687338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STIL were changed from to Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO:0012989",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:13:21.379382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STIL were set to ",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:12:58.344732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:12:40.808487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703, MONDO:0012989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:12:38.885444+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STIL were changed from to Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO:0012989",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:11:42.313192+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STIL were set to ",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:11:19.011888+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:10:49.711212+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703, MONDO_0012989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:04:19.408488+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, MIM# 613078 to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:03:51.222417+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD50 were set to 19409520; 32212377",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:03:26.402841+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAD50: Added comment: - PMID: 33378670 (2020) - Third case with biallelic RAD50 variants comprising a compound heterozygous frameshift and premature stop codon (c.2165dup; p.Glu723Glyfs∗5 - maternally inherited) and in-frame deletion (c.3109_3111del; p.Glu1035del - de novo). The patient presented with bone marrow failure, immunodeficiency and developmental defects. Collectively, clinical features were reminiscent of impaired DNA repair and/or telomere maintenance. Functional characterisation using patient-derived fibroblasts indicated defects in DNA replication, DNA repair, and DNA end resection; however, ATM-dependent DNA damage response remained intact. Studies in yeast modelling the variant corresponding to p.Glu1035del produced defects in both DNA repair and Tel1ATM-dependent signalling following thermal activation.; Changed publications: 19409520, 32212377, 33378670; Changed phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078, MONDO:0013118",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:00:53.085786+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, MIM# 613078 to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-02T15:00:16.751981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD50 were set to 19409520; 32212377",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-02T03:00:12.546362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6975",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 33378670; Phenotypes: Nijmegen breakage syndrome-like disorder, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:40:44.679314+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HHAT as ready",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:40:44.668416+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Amber List (Moderate Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:40:04.750246+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC6B as ready",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:40:04.738964+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc6b has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:38:22.931474+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAMBP as ready",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:38:22.918011+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stambp has been classified as Green List (High Evidence).",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:38:05.753216+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:37:35.200720+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAMBP were set to ",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:37:03.500442+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:36:31.796808+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:35:58.952922+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAMBP as ready",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:35:58.943276+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stambp has been classified as Green List (High Evidence).",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:35:56.182517+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:35:27.206528+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAMBP were set to ",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:34:56.728300+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:34:21.599149+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:33:46.837039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAMBP as ready",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:33:46.823756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stambp has been classified as Green List (High Evidence).",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:33:39.775976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:33:20.200862+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAMBP were set to ",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:33:02.223834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:32:44.750044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:32:02.290930+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAMBP as ready",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:32:02.281190+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stambp has been classified as Green List (High Evidence).",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:31:59.396217+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:31:31.977814+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAMBP were set to ",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:31:07.497978+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:30:42.789145+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:27:59.548346+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A6 as ready",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:27:59.537831+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:27:53.027411+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-04-01T20:27:26.914367+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-04-01T18:36:32.714887+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-04-01T18:35:26.531220+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A19 as ready",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2021-04-01T18:35:26.519193+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2021-04-01T18:35:23.735921+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM# 607196",
"entity_name": "SLC25A19",
"entity_type": "gene"
}
]
}