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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1460",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1458",
"results": [
{
"created": "2020-12-29T08:00:50.196932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja8 has been classified as Green List (High Evidence).",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:00:43.237021+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:00:23.486414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJA8 were set to ",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:00:03.551280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:59:44.696958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339, 10480374, 18006672; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:56:47.517063+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA8 as ready",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:56:47.502453+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja8 has been classified as Green List (High Evidence).",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:56:44.723485+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:56:16.532290+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJA8 were set to ",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:55:39.297066+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:55:10.788794+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:52:13.958908+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKG as ready",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:52:13.950561+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:52:06.061125+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, MIM# 308300",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:51:37.501402+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-12-29T07:51:08.388962+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Incontinentia pigmenti, MIM# 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:45:25.335948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATIC as ready",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:45:25.328005+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atic has been classified as Green List (High Evidence).",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:45:14.076978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATIC were changed from to AICA-ribosiduria due to ATIC deficiency, MIM# 608688",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:44:53.394149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATIC were set to ",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:44:33.978788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATIC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:44:31.567133+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATIC as ready",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:44:31.557035+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atic has been classified as Green List (High Evidence).",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:44:14.192609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 15114530, 32557644; Phenotypes: AICA-ribosiduria due to ATIC deficiency, MIM# 608688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:44:05.018203+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATIC were changed from to AICA-ribosiduria due to ATIC deficiency, MIM# 608688",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:43:28.232578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATIC were set to ",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:42:21.834160+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATIC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T21:41:47.763108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 15114530, 32557644; Phenotypes: AICA-ribosiduria due to ATIC deficiency, MIM# 608688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:31:05.623043+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MITF were set to ",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:30:34.807409+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MITF as ready",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:30:34.795745+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mitf has been classified as Green List (High Evidence).",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:30:17.823529+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, multiple families and animal models.; to: Waardenburg syndrome: Well established gene-disease association, multiple families and animal models.",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:30:04.243202+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MITF: Changed phenotypes: Waardenburg syndrome, type 2A, MIM# 193510, Deafness",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:29:45.887113+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MITF were changed from Waardenburg syndrome, type 2A, MIM# 193510 to Waardenburg syndrome, type 2A, MIM# 193510; Deafness",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:29:20.261592+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MITF were set to 7874167; 23512835; 27759048; 28356565; 9499424; 27349893",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:28:55.914776+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:28:25.014297+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MITF: Added comment: PMID 32728090: two families reported with bi-allelic variants and isolated deafness.; Changed publications: 7874167, 23512835, 27759048, 28356565, 9499424, 27349893, 32728090; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:27:01.266823+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MITF were changed from to COMMAD syndrome, MIM# 617306",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:26:34.441841+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MITF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:26:05.223737+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889061, 32541011; Phenotypes: COMMAD syndrome, MIM# 617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:22:16.085492+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA1 as ready",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:22:16.076968+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja1 has been classified as Green List (High Evidence).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:22:13.690220+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA1 were changed from to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:21:45.467351+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJA1 were set to ",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:21:18.863331+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:20:48.009258+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19338053; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:11:38.499958+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE3 as ready",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:11:38.488066+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Green List (High Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:11:35.498857+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:11:03.306247+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXE3 were set to ",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:10:40.334056+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:10:11.339699+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27218149, 21150893, 31884615, 29878917, 29713869; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:07:15.025358+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFAP2A as ready",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:07:15.011692+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfap2a has been classified as Green List (High Evidence).",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:07:12.820668+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM# 113620",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:06:44.144232+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TFAP2A were set to ",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:06:14.921611+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:05:45.779425+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19206157, 19685247, 20358615, 32766183, 24783654; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:01:33.896367+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D20 as ready",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:01:33.887543+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d20 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:01:30.981484+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM# 615663",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:01:03.461520+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D20 were set to ",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:00:36.133085+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-12-28T19:00:06.673635+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM# 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:58:23.020238+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5RAP2 as ready",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:58:23.012369+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Green List (High Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:55:14.179563+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5RAP2 as Green List (high evidence)",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:55:14.168755+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Green List (High Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:54:45.713290+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK5RAP2 was added\ngene: CDK5RAP2 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK5RAP2 were set to 32015000\nPhenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM#\t604804\nReview for gene: CDK5RAP2 was set to GREEN\nAdded comment: Microphthalmia is a feature. \nSources: Literature",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:50:35.779554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FZD5 as ready",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:50:35.771632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd5 has been classified as Green List (High Evidence).",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:50:27.467761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FZD5 as Green List (high evidence)",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:50:27.460127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd5 has been classified as Green List (High Evidence).",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:50:08.822213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FZD5 was added\ngene: FZD5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FZD5 were set to 32737437; 26908622\nPhenotypes for gene: FZD5 were set to Coloboma\nReview for gene: FZD5 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Literature",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:49:51.472326+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FZD5 as ready",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:49:51.461003+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd5 has been classified as Green List (High Evidence).",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:48:31.097926+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FZD5 as Green List (high evidence)",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:48:31.087341+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd5 has been classified as Green List (High Evidence).",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:48:02.336983+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FZD5 was added\ngene: FZD5 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FZD5 were set to 32737437; 26908622\nPhenotypes for gene: FZD5 were set to Coloboma\nReview for gene: FZD5 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Literature",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:34:31.934797+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM111A as ready",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:34:31.926614+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam111a has been classified as Green List (High Evidence).",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:34:28.527247+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM111A as Green List (high evidence)",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:34:28.516113+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam111a has been classified as Green List (High Evidence).",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:34:00.344227+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM111A was added\ngene: FAM111A was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAM111A were set to 32996714; 23684011\nPhenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM@\t127000\nReview for gene: FAM111A was set to GREEN\nAdded comment: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia. \nSources: Literature",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:28:04.169496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STRA6 as ready",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:28:04.161245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stra6 has been classified as Green List (High Evidence).",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:27:53.502208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STRA6 were changed from to Microphthalmia, isolated, with coloboma 8, MIM# 601186; Microphthalmia, syndromic 9, MIM# 601186",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:27:35.980922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STRA6 were set to ",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:27:18.218018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:26:52.377259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8, MIM# 601186, Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:26:33.308219+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STRA6 as ready",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:26:33.296946+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stra6 has been classified as Green List (High Evidence).",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:25:56.737475+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STRA6 were changed from to Microphthalmia, isolated, with coloboma 8, MIM# 601186; Microphthalmia, syndromic 9, MIM# 601186",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:25:32.016749+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STRA6 were set to ",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:25:04.059724+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:24:34.461276+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8, MIM# 601186, Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:19:38.761311+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX2 were changed from Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:19:19.358596+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:18:56.554136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX2 as ready",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-12-28T18:18:56.540506+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox2 has been classified as Green List (High Evidence).",
"entity_name": "SOX2",
"entity_type": "gene"
}
]
}