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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1408",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1406",
"results": [
{
"created": "2021-02-14T21:32:53.467404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSL3 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": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:32:34.423412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: Basilicata-Akhtar syndrome, OMIM # 301032; 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": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:29:54.554742+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MSL3 were set to ",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:29:24.353189+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:28:43.731676+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSL3 as ready",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:28:43.719338+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msl3 has been classified as Green List (High Evidence).",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:28:14.503502+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MINPP1 as ready",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:28:14.495635+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:27:40.568872+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOE1 as ready",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:27:40.560880+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: toe1 has been classified as Green List (High Evidence).",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:26:49.968255+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOE1 were changed from to Pontocerebellar hypoplasia, type 7, MIM# 614969",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:26:23.952429+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOE1 were set to ",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:25:52.906689+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:25:20.368959+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7, MIM# 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:24:41.233600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOE1 as ready",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:24:41.222564+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: toe1 has been classified as Green List (High Evidence).",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:24:33.362568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOE1 were changed from to Pontocerebellar hypoplasia, type 7, MIM# 614969",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:24:18.597043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOE1 were set to ",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:23:57.162079+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:23:37.678435+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7, MIM# 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:22:52.043308+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOE1 as ready",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:22:52.031912+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: toe1 has been classified as Green List (High Evidence).",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:22:44.798328+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOE1 were changed from to Pontocerebellar hypoplasia, type 7, MIM# 614969",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:22:21.966690+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOE1 were set to ",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:21:58.856163+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T21:21:27.196634+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7, MIM# 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:35:36.887460+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB3 as ready",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:35:36.876949+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb3 has been classified as Green List (High Evidence).",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:35:31.856053+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:34:56.453107+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:34:24.270658+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:32:34.465788+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS53 as ready",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:32:34.457142+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps53 has been classified as Green List (High Evidence).",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:32:30.207125+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS53 were changed from to Pontocerebellar hypoplasia, type 2E, MIM# 615851",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:31:28.242653+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS53 were set to ",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:31:00.568866+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:30:35.339853+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: VPS53.",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:30:25.512886+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 30100179; Phenotypes: Pontocerebellar hypoplasia, type 2E, MIM# 615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:28:54.704232+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VRK1 as ready",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:28:54.693527+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vrk1 has been classified as Green List (High Evidence).",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:28:45.711256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VRK1 as ready",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:28:45.701217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vrk1 has been classified as Green List (High Evidence).",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:28:37.412300+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VRK1 were changed from to Pontocerebellar hypoplasia type 1A, MIM# 607596; SMA",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:28:17.611989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VRK1 were set to ",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:27:58.099558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:27:37.156309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VRK1: Changed rating: GREEN; Changed phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596, SMA",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:26:55.909075+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VRK1 were changed from to Pontocerebellar hypoplasia type 1A, MIM# 607596",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:26:22.578202+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VRK1 were set to ",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:25:42.387077+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:25:12.569922+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19646678, 21937992, 25609612; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:21:26.161497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN2 as ready",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:21:26.151275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn2 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:21:18.353412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN2 were changed from to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:21:04.808170+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTBN2 were set to ",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:20:44.612314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTBN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:19:53.025547+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN2 as ready",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:19:53.017357+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn2 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:19:50.562672+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN2 were changed from to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:19:27.528019+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTBN2 were set to ",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:18:57.704505+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTBN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:17:57.767102+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23236289, 23838597, 22781464, 33318253; Phenotypes: Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:13:30.396032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPSECS as ready",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:13:30.383549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sepsecs has been classified as Green List (High Evidence).",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:13:23.179208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:13:01.796660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEPSECS were set to ",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:12:41.189584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:12:22.740385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920667, 25044680, 31748115, 29464431; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:11:31.520921+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPSECS as ready",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:11:31.510099+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sepsecs has been classified as Green List (High Evidence).",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:11:28.972778+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, MIM# 613811",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:11:01.949687+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEPSECS were set to ",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:10:33.734252+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:10:05.218247+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920667, 25044680, 31748115, 29464431; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:05:53.230444+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELN as ready",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:05:53.219019+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reln has been classified as Red List (Low Evidence).",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:05:50.242941+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:05:22.227461+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RELN were set to ",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:04:55.301516+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RELN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:04:28.273805+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RELN as Red List (low evidence)",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:04:28.266647+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reln has been classified as Red List (Low Evidence).",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:03:59.831495+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RELN: Rating: RED; Mode of pathogenicity: None; Publications: 27000652; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:01:12.348667+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARS2 as ready",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:01:12.337870+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rars2 has been classified as Green List (High Evidence).",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:01:09.528674+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, MIM# 611523",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:00:43.184814+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RARS2 were set to ",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2021-02-14T18:00:15.784988+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:59:44.306440+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17847012, 20635367, 25809939; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:55:59.571590+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNC3 as ready",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:55:59.557736+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:54:31.785312+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNC3 were changed from to Spinocerebellar ataxia 13, MIM# 605259",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:53:57.570996+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNC3 were set to ",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:53:27.239063+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:52:59.466956+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNC3 as Amber List (moderate evidence)",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:52:59.454959+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:52:30.821874+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 16501573, 25497598, 25981959; Phenotypes: Spinocerebellar ataxia 13, MIM# 605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:50:10.880000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild. Multiple families reported with bi-allelic or de novo heterozygous variants.; to: Gillespie syndrome: usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild. Multiple families reported with bi-allelic or de novo heterozygous variants.",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:49:53.478592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPR1 as ready",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:49:53.468375+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpr1 has been classified as Green List (High Evidence).",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:49:45.377783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR1 were changed from to Gillespie syndrome, MIM# 206700; Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2021-02-14T17:49:21.388925+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPR1 were set to ",
"entity_name": "ITPR1",
"entity_type": "gene"
}
]
}