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{
"created": "2021-03-20T11:19:46.855613+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:19:40.906052+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:19:21.244561+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSPP1 were set to ",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:18:49.697990+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:17:57.468200+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSPP1 as ready",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:17:57.458150+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cspp1 has been classified as Green List (High Evidence).",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:17:53.461028+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:17:25.180151+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSPP1 were set to ",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:16:53.959405+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:16:21.416298+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:15:30.492662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSPP1 as ready",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:15:30.482686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cspp1 has been classified as Green List (High Evidence).",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:15:23.526981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:15:04.433829+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSPP1 were set to ",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:14:38.098323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:14:18.764454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 20 unrelated families reported.; to: More than 20 unrelated families reported. Classically associated with Joubert syndrome; however, note 4 individuals reported with features consistent with Jeune asphyxiating thoracic dystrophy, including short ribs, bell-shaped chest, and pulmonary hypoplasia.",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:13:56.589219+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 20 unrelated families reported.; to: More than 20 unrelated families reported. Classically associated with Joubert syndrome; however, note 4 individuals reported with features consistent with Jeune asphyxiating thoracic dystrophy, including short ribs, bell-shaped chest, and pulmonary hypoplasia.",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:13:16.024162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:12:40.681342+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, MIM# 615636; MONDO:0014288",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:12:28.391260+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSPP1 as ready",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:12:28.366288+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cspp1 has been classified as Green List (High Evidence).",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:12:25.604278+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, MIM# 615636; MONDO:0014288",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:11:51.392720+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:11:20.635765+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSPP1 were set to ",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:10:52.960258+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:10:28.983580+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:09:45.747420+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSPP1 as ready",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:09:45.738585+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cspp1 has been classified as Green List (High Evidence).",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:09:43.598131+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:09:26.370084+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSPP1 were set to ",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:08:57.056878+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:08:27.720679+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:09:48.301473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP41 as ready",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:09:48.291127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep41 has been classified as Green List (High Evidence).",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:09:35.558396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:09:08.174220+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP41 were set to ",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:08:48.321604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:08:31.273316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:07:51.665006+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP41 as ready",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:07:51.654176+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep41 has been classified as Green List (High Evidence).",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:07:49.012702+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:07:18.292111+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP41 were set to ",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:06:49.665391+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:06:24.562427+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:05:38.248344+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP41 as ready",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:05:38.237613+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep41 has been classified as Green List (High Evidence).",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:05:17.423790+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:04:41.796385+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP41 were set to ",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:01:27.168661+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T21:00:56.600224+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-03-19T16:16:32.400620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6782",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA1 as ready",
"entity_name": "SCA1",
"entity_type": "str"
},
{
"created": "2021-03-19T16:16:32.391235+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6782",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca1 has been classified as Green List (High Evidence).",
"entity_name": "SCA1",
"entity_type": "str"
},
{
"created": "2021-03-19T16:16:10.247381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6782",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: SCA1: Changed rating: GREEN",
"entity_name": "SCA1",
"entity_type": "str"
},
{
"created": "2021-03-19T16:16:09.292054+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6782",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA1 as Green List (high evidence)",
"entity_name": "SCA1",
"entity_type": "str"
},
{
"created": "2021-03-19T16:16:09.281076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6782",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca1 has been classified as Green List (High Evidence).",
"entity_name": "SCA1",
"entity_type": "str"
},
{
"created": "2021-03-19T16:15:24.269154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6781",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA1 was added\nSTR: SCA1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA1 were set to 29325606; 20301363\nPhenotypes for STR: SCA1 were set to Spinocerebellar ataxia 1 MIM#164400\nSTR: SCA1 was marked as clinically relevant\nAdded comment: NM_000332.3:c.589_591CAG[X]\r\nToxic protein aggregation is mechanism of disease\r\nNormal: ≤35 CAG repeats or 36-44 CAG repeats with CAT interruptions\r\nMutable normal (intermediate): 36-38 CAG repeats without CAT interruptions\r\nFull-penetrance: ≥39 CAG repeats without CAT interruptions or ≥46 uninterrupted CAG repeats with CAT interruptions and additional CAGs \nSources: Expert list",
"entity_name": "SCA1",
"entity_type": "str"
},
{
"created": "2021-03-19T16:12:28.216630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6780",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATXN1 as No list",
"entity_name": "ATXN1",
"entity_type": "gene"
},
{
"created": "2021-03-19T16:12:28.207639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6780",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atxn1 has been removed from the panel.",
"entity_name": "ATXN1",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:55:51.364170+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RANBP2 as ready",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:55:51.352210+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ranbp2 has been classified as Green List (High Evidence).",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:55:20.307879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6779",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RANBP2 as ready",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:55:20.297324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6779",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ranbp2 has been classified as Green List (High Evidence).",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:55:10.375636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6779",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RANBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118815, 25128471, 25522933, 32048120; Phenotypes: {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:54:33.139943+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RANBP2 as Green List (high evidence)",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:54:33.131086+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ranbp2 has been classified as Green List (High Evidence).",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:54:01.545540+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RANBP2 was added\ngene: RANBP2 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RANBP2 were set to 19118815; 25128471; 25522933; 32048120\nPhenotypes for gene: RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033\nReview for gene: RANBP2 was set to GREEN\nAdded comment: >3 unrelated cases reported, many with the same variant which was shown to arise independently and not a founder mutation. \nSources: Expert list",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:35:58.201486+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NBAS as ready",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:35:58.190685+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:35:47.871346+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NBAS as Green List (high evidence)",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:35:47.862039+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:35:02.958685+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:NBAS from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-19T14:34:48.541806+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBAS were set to 26073778; 26286438; 33042920\nPhenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800; Infantile liver failure syndrome 2 MIM#616483\nReview for gene: NBAS was set to GREEN\nAdded comment: Immunological abnormalities (characterized by hypogammaglobulinemia, low T-cells, and near-absent B-cells) leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients \nSources: Expert list",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:30:37.488748+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PSEN1 as Green List (high evidence)",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:30:37.479147+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: psen1 has been classified as Green List (High Evidence).",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2021-03-19T14:29:53.745103+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PSEN1 was added\ngene: PSEN1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSEN1 were set to 20929727; 32048120; 33333507; 30544224\nPhenotypes for gene: PSEN1 were set to ?Acne inversa, familial, 3 MIM#613737\nReview for gene: PSEN1 was set to GREEN\nAdded comment: 4 families (1 with segregation data) with 3 putative loss of function variants, and supporting functional assays demonstrating that loss of function is the mechanism of disease (unlike dominant-negative variants that cause Alzheimer's disease). \nSources: Expert list",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:37:05.007280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6779",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NCSTN as ready",
"entity_name": "NCSTN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:37:04.994294+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6779",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ncstn has been classified as Green List (High Evidence).",
"entity_name": "NCSTN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:36:54.477495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6779",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NCSTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20929727, 21412258, 32048120; Phenotypes: Acne inversa, familial, 1 MIM#142690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NCSTN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:35:29.003941+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NCSTN as ready",
"entity_name": "NCSTN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:35:28.991612+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ncstn has been classified as Green List (High Evidence).",
"entity_name": "NCSTN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:35:25.543674+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NCSTN as Green List (high evidence)",
"entity_name": "NCSTN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:35:25.536066+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ncstn has been classified as Green List (High Evidence).",
"entity_name": "NCSTN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:34:55.973437+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NCSTN was added\ngene: NCSTN was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: NCSTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NCSTN were set to 20929727; 21412258; 32048120\nPhenotypes for gene: NCSTN were set to Acne inversa, familial, 1 MIM#142690\nReview for gene: NCSTN was set to GREEN\nAdded comment: >3 families reported with acne inversa (also known as hidradenitis suppurativa) \nSources: Expert list",
"entity_name": "NCSTN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:29:38.414502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6779",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PSENEN as ready",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:29:38.404869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6779",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: psenen has been classified as Green List (High Evidence).",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:29:24.487123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6779",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: PSENEN were changed from to Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:29:09.347413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6778",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PSENEN were set to ",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:28:53.118409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6777",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSENEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:28:30.134551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6776",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PSENEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20929727, 21412258, 27900998; Phenotypes: Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:27:08.215206+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PSENEN as ready",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:27:08.203360+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: psenen has been classified as Green List (High Evidence).",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:26:51.498662+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PSENEN as Green List (high evidence)",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:26:51.487066+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: psenen has been classified as Green List (High Evidence).",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:26:23.173118+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: >3 cases reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition \nSources: Expert list; to: >3 families reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition \r\nSources: Expert list",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:26:12.695739+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PSENEN was added\ngene: PSENEN was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSENEN were set to 20929727; 21412258; 27900998; 32048120\nPhenotypes for gene: PSENEN were set to Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736\nReview for gene: PSENEN was set to GREEN\nAdded comment: >3 cases reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition \nSources: Expert list",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:12:23.601900+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TNFSF11 as ready",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:12:23.588419+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnfsf11 has been classified as Green List (High Evidence).",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:12:18.723834+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TNFSF11 as Green List (high evidence)",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:12:18.715870+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnfsf11 has been classified as Green List (High Evidence).",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:11:36.582442+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNFSF11 was added\ngene: TNFSF11 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFSF11 were set to 17632511; 32048120; 10984520\nPhenotypes for gene: TNFSF11 were set to Osteoperosis, autosomal recessive 2 MIM#259710\nReview for gene: TNFSF11 was set to GREEN\nAdded comment: >3 cases reported with osteoclast poor osteoporosis, and a supporting null mouse model. \nSources: Expert list",
"entity_name": "TNFSF11",
"entity_type": "gene"
}
]
}