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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1520",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1518",
"results": [
{
"created": "2020-10-31T17:05:50.224790+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III MIM#600740 to Hypocalciuric hypercalcemia, type III MIM#600740",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-10-31T15:31:39.753844+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5206",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP2S1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-10-31T15:29:11.876866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: AP2S1 were changed from to Hypocalciuric hypercalcemia, type III MIM#600740",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-10-31T11:45:11.826229+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RET as ready",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-10-31T11:45:11.815838+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ret has been classified as Red List (Low Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-10-31T11:44:59.284897+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital, MIM#209880",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-10-31T11:41:55.673088+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RET were set to ",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-10-31T11:40:40.257649+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-10-31T11:40:12.288007+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RET as Red List (low evidence)",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-10-31T11:40:12.270651+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ret has been classified as Red List (Low Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-10-31T11:39:42.097330+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RET: Rating: RED; Mode of pathogenicity: None; Publications: 18438890, 16443855, 12566528, 12086152; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:47:55.707455+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDNF as ready",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:47:55.699618+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdnf has been classified as Red List (Low Evidence).",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:47:53.421367+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDNF were changed from to Central hypoventilation syndrome, MIM# 209880",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:47:24.339436+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDNF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:46:57.612391+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GDNF as Red List (low evidence)",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:46:57.604592+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdnf has been classified as Red List (Low Evidence).",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:46:29.883181+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, MIM# 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:35:47.962588+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHOX2B as ready",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:35:47.953801+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phox2b has been classified as Green List (High Evidence).",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:35:45.506708+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHOX2B were changed from to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:35:14.135986+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHOX2B were set to ",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:34:46.654835+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHOX2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:34:17.786990+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301600; Phenotypes: Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:27:50.847813+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BDNF were changed from to Central hypoventilation syndrome, congenital, MIM#209880",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:27:20.638322+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BDNF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:26:52.463952+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: BDNF.",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:22:20.406032+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDN3 as ready",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:22:20.393029+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edn3 has been classified as Red List (Low Evidence).",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:22:17.665110+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDN3 were changed from to Central hypoventilation syndrome, congenital, MIM# 209880",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:21:47.804868+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EDN3 were set to ",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:21:19.182141+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDN3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:20:51.625308+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EDN3 as Red List (low evidence)",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:20:51.614822+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edn3 has been classified as Red List (Low Evidence).",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:20:25.324927+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: EDN3.",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:20:15.877258+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDN3: Rating: RED; Mode of pathogenicity: None; Publications: 8696331; Phenotypes: Central hypoventilation syndrome, congenital, MIM# 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:10:29.653288+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASCL1 as ready",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:10:29.639082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:10:23.073133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASCL1 were changed from to Central hypoventilation syndrome, congenital, MIM# 209880",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:10:05.591057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASCL1 were set to ",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:09:44.356845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASCL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:09:26.335232+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASCL1 as Amber List (moderate evidence)",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:09:26.325153+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:09:08.363094+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASCL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 14532329; Phenotypes: Central hypoventilation syndrome, congenital, MIM# 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:08:33.828670+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASCL1 as ready",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:08:33.816544+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:08:30.475848+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASCL1 were changed from to Central hypoventilation syndrome, congenital, MIM# 209880",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:08:03.646592+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASCL1 were set to ",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:07:33.594737+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASCL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:07:07.735099+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASCL1 as Amber List (moderate evidence)",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:07:07.720734+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T09:06:38.250984+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASCL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 14532329; Phenotypes: Central hypoventilation syndrome, congenital, MIM# 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2020-10-31T08:59:06.804308+11:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-31T08:24:14.396677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ODC1 were changed from Intellectual disability; macrocephaly; dysmorphism to Neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-10-31T08:23:53.874408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ODC1 were set to 30475435",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-10-31T08:23:25.472260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ODC1 were set to 30475435",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-10-31T08:22:51.046086+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ODC1: Added comment: Fifth individual reported in PMID 30239107: de novo nonsense variant identified, molecular modeling suggested that due to lack of a C terminus in the mutant protein, antizyme binding does not induce ODC degradation, leading to accumulation of active protein.; Changed publications: 30475435, 30239107",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-10-31T08:22:07.061651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ODC1: Fifth individual reported in PMID 30239107: de novo nonsense variant identified, molecular modeling suggested that due to lack of a C terminus in the mutant protein, antizyme binding does not induce ODC degradation, leading to accumulation of active protein.",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-10-31T08:21:10.321633+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four individuals with de novo GoF variants in this gene reported. \nSources: Literature; to: Four individuals with de novo GoF variants in this gene reported. \r\nSources: Literature",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-10-31T08:20:57.335787+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ODC1: Changed publications: 30475435, 30239107",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-10-31T08:18:38.053197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ODC1: Changed phenotypes: Neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-10-31T08:18:12.253677+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ODC1 were changed from Intellectual disability; macrocephaly; dysmorphism to Neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-10-31T08:17:28.452614+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ODC1: Changed phenotypes: Neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-10-31T08:17:07.230938+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ODC1: Changed phenotypes: neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-10-30T21:13:35.763960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDELR2 as ready",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-10-30T21:13:35.752039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdelr2 has been classified as Green List (High Evidence).",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-10-30T21:13:25.664573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDELR2 as Green List (high evidence)",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-10-30T21:13:25.656414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdelr2 has been classified as Green List (High Evidence).",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-10-30T21:13:06.913113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDELR2 was added\ngene: KDELR2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KDELR2 were set to 33053334\nPhenotypes for gene: KDELR2 were set to Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms\nReview for gene: KDELR2 was set to GREEN\nAdded comment: 4 families with osteogenesis imperfecta reported with functional studies. \nSources: Expert list",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-10-30T21:12:51.091492+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDELR2 as ready",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-10-30T21:12:51.080748+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdelr2 has been classified as Green List (High Evidence).",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-10-30T21:11:44.904836+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDELR2 as Green List (high evidence)",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-10-30T21:11:44.894676+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdelr2 has been classified as Green List (High Evidence).",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-10-30T21:09:41.827228+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDELR2 was added\ngene: KDELR2 was added to Osteogenesis Imperfecta. Sources: Expert Review\nMode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KDELR2 were set to 33053334\nPhenotypes for gene: KDELR2 were set to Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms\nReview for gene: KDELR2 was set to GREEN\nAdded comment: 4 families with osteogenesis imperfecta reported with functional studies. \nSources: Expert Review",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:56:00.971414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN8A as ready",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:56:00.963637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn8a has been classified as Green List (High Evidence).",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:55:52.905281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN8A were changed from to Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive; Myoclonus, familial, 2, MIM# 618364; paroxysmal kinesigenic dyskinesias; Cognitive impairment with or without cerebellar ataxia, MIM# 614306",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:55:32.592331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN8A were set to ",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:54:55.221946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCN8A was changed from to Other",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:54:38.956858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN8A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:54:16.694618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31625145, 29726066, 27098556, 28702509, 16236810, 31904124, 31887642, 31675620; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive, Myoclonus, familial, 2, MIM# 618364, paroxysmal kinesigenic dyskinesias, Cognitive impairment with or without cerebellar ataxia, MIM# 614306; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:44:35.066552+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA4 as ready",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:44:35.059048+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:44:30.941025+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA4 were changed from to Testicular anomalies with or without congenital heart disease, MIM# 615542",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:44:00.820837+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA4 were set to ",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:42:44.996906+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:42:15.367266+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA4 as Amber List (moderate evidence)",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:42:15.357023+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:41:09.902922+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD51D as ready",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:41:09.894567+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51d has been classified as Green List (High Evidence).",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:41:00.689943+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAD51D as Green List (high evidence)",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T18:41:00.681841+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51d has been classified as Green List (High Evidence).",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T16:54:59.597152+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.47",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RAD51D was added\ngene: RAD51D was added to Incidentalome. Sources: Literature\nMode of inheritance for gene: RAD51D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAD51D were set to PMID: 28646019; 31937788; 26057125\nPhenotypes for gene: RAD51D were set to {Breast-ovarian cancer, familial, susceptibility to, 4} 614291\nReview for gene: RAD51D was set to GREEN\nAdded comment: Pure cancer susceptibility gene, no relationship found with germline mutations and other mendelian disease. \nSources: Literature",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T15:14:45.311403+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.175",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21220346, 30455927, 29735817, 27899157, 26490186, 29670578, 32992319; Phenotypes: ?Testicular anomalies with or without congenital heart disease 615542 AD, Atrial septal defect 2 607941 AD, Atrioventricular septal defect 4 614430 AD, Tetralogy of Fallot 187500 AD, Ventricular septal defect 1 614429 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:08:41.976434+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRRC32 as ready",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:08:41.965302+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:08:34.989691+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRRC32 as Amber List (moderate evidence)",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:08:34.979276+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:08:26.301974+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRRC32 was added\ngene: LRRC32 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC32 were set to 30976112\nPhenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074\nReview for gene: LRRC32 was set to AMBER\nAdded comment: Three individuals from two consanguineous families segregated the same homozygous bi-allelic variant, c.1630C>T; p.(Arg544Ter), shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death. \nSources: Literature",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:07:07.438454+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC32 were changed from Intellectual disability; cleft palate; proliferative retinopathy to Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074",
"entity_name": "LRRC32",
"entity_type": "gene"
}
]
}