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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1499",
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"results": [
{
"created": "2020-11-25T08:08:45.211442+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOGS as ready",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:08:45.200463+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mogs has been classified as Green List (High Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:08:35.524226+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb, MIM# 606056",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:08:05.465259+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOGS were set to ",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:07:35.934146+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:07:05.611374+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:05:56.650542+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOGS as ready",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:05:56.641924+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mogs has been classified as Green List (High Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:05:52.192712+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb, MIM# 606056",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:05:22.987358+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOGS were set to ",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:04:51.951542+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:04:21.468106+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:02:50.648304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOGS were set to 31925597",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:02:23.100589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T07:57:44.161109+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOGS were set to 31925597; 30587846",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T07:57:03.754016+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MOGS: Added comment: Six unrelated families reported.; Changed publications: 31925597, 33058492",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T07:54:19.226140+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOGS were set to 31925597",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:35:40.151875+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NGLY1 were changed from Congenital disorder of deglycosylation, MIM# 615273 to Congenital disorder of deglycosylation, MIM# 615273; alacrima, movement disorder, microcephaly, abnormal LFTs",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:35:18.792040+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NGLY1 were set to 24651605; 27388694; 32259258",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:34:21.398755+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA3 as ready",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:34:21.390679+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata3 has been classified as Green List (High Evidence).",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:34:15.822769+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA3 as Green List (high evidence)",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:34:15.798058+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata3 has been classified as Green List (High Evidence).",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:33:55.363337+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXI1 as ready",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:33:55.352521+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxi1 has been classified as Green List (High Evidence).",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:33:47.933716+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXI1 as Green List (high evidence)",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:33:47.923846+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxi1 has been classified as Green List (High Evidence).",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:33:26.146723+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPS8L2 as ready",
"entity_name": "EPS8L2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:33:26.138418+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eps8l2 has been classified as Green List (High Evidence).",
"entity_name": "EPS8L2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:33:20.444694+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPS8L2 as Green List (high evidence)",
"entity_name": "EPS8L2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:33:20.434854+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eps8l2 has been classified as Green List (High Evidence).",
"entity_name": "EPS8L2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:32:59.854007+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPS8 as ready",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:32:59.846328+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eps8 has been classified as Green List (High Evidence).",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:32:54.080775+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPS8 as Green List (high evidence)",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:32:54.070398+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eps8 has been classified as Green List (High Evidence).",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:32:32.308104+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDNRB as ready",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:32:32.287886+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ednrb has been classified as Green List (High Evidence).",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:32:29.155511+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDNRB were changed from Hirschsprung disease; Waardenburg syndrome to Waardenburg syndrome, type 4A, MIM# 277580",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:32:12.355430+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDNRB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:32:02.425913+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EDNRB as Green List (high evidence)",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:32:02.415238+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ednrb has been classified as Green List (High Evidence).",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:13:00.349164+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A2 as ready",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:13:00.341448+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a2 has been classified as Green List (High Evidence).",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:12:57.014750+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A2 were changed from Stickler syndrome to Stickler syndrome, type V, MIM# 614284",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:12:44.483327+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL9A2 as Green List (high evidence)",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:12:44.469301+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a2 has been classified as Green List (High Evidence).",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:12:20.752447+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A1 as ready",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:12:20.739627+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a1 has been classified as Green List (High Evidence).",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:12:17.438068+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A1 were changed from Stickler syndrome to Stickler syndrome, type IV, MIM#614134",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:11:52.375914+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL9A1 as Green List (high evidence)",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:11:52.365485+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a1 has been classified as Green List (High Evidence).",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:09:05.263861+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDN3 as ready",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:09:05.249840+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edn3 has been classified as Green List (High Evidence).",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:08:58.439925+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDN3 were changed from Hirschsprung disease; Waardenburg syndrome to Waardenburg syndrome",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:08:40.831643+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:08:30.991179+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EDN3 as Green List (high evidence)",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:08:30.980981+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edn3 has been classified as Green List (High Evidence).",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:07:57.488283+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIAPH1 as ready",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:07:57.480679+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:07:54.078742+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DIAPH1 were changed from Hearing loss to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:07:42.123663+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIAPH1 as Green List (high evidence)",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:07:42.115256+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:07:15.920130+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC50 as ready",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:07:15.911565+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc50 has been classified as Green List (High Evidence).",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:07:09.131791+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC50 were changed from Hearing loss to childhood onset deafness, progressive",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:06:55.597128+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC50 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:05:33.970482+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC50 as Green List (high evidence)",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:05:33.956269+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc50 has been classified as Green List (High Evidence).",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:05:05.949609+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMXL2 as ready",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:05:05.938987+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmxl2 has been classified as Green List (High Evidence).",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:05:00.194593+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DMXL2 as Green List (high evidence)",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:05:00.165974+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmxl2 has been classified as Green List (High Evidence).",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:04:35.295272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RORB as ready",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:04:35.287130+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rorb has been classified as Green List (High Evidence).",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:04:28.014847+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RORB were changed from to {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD; Genetic generalized epilepsy (GGE); Photosensitive generalized and occipital epilepsy",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:04:07.807819+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RORB were set to ",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:03:49.875941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RORB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:03:31.457142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RORB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27352968, 32162308; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD, Genetic generalized epilepsy (GGE), Photosensitive generalized and occipital epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:03:06.356087+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RORB as ready",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:03:06.345940+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rorb has been classified as Green List (High Evidence).",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:02:53.818192+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RORB were changed from to {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD; Genetic generalized epilepsy (GGE); Photosensitive generalized and occipital epilepsy",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:02:25.589079+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RORB were set to ",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-24T21:01:57.558920+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RORB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RORB",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:58:36.214096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYL9 as ready",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:58:36.203765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myl9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:58:27.828875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYL9 as Amber List (moderate evidence)",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:58:27.819515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myl9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:57:42.085508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYL9 was added\ngene: MYL9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYL9 were set to 29453416; 33031641\nPhenotypes for gene: MYL9 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome\nReview for gene: MYL9 was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Literature",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:56:14.340600+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYL9 were set to 29453416",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:56:04.160168+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYL9 as Amber List (moderate evidence)",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:56:04.152988+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myl9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:55:55.422016+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYL9: Rating: AMBER; Mode of pathogenicity: None; Publications: 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:54:20.564843+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYLK as ready",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:54:20.553720+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:54:17.125211+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYLK were set to ",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:54:08.112855+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYLK as Amber List (moderate evidence)",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-11-24T20:54:08.104719+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:19:19.534600+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.48",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:18:47.651692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5407",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:06:37.920577+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3199",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "USP9X",
"entity_type": "gene"
}
]
}