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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=347",
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"results": [
{
"created": "2024-11-14T14:39:46.918713+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6722",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PSPH as ready",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:39:46.906531+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6722",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: psph has been classified as Green List (High Evidence).",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:39:26.851568+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6722",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PSPH were changed from Phosphoserine phosphatase deficiency MIM#614023 to Phosphoserine phosphatase deficiency MIM#614023",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:38:51.039218+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6722",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency MIM#614023",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:38:26.269525+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6721",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PSPH were set to ",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:37:56.172673+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6721",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:37:06.798684+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6720",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 37347880; Phenotypes: Phosphoserine phosphatase deficiency MIM#614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:36:04.938550+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6720",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PRPS1 were changed from PRPS1 deficiency disorder MONDO:0100061 to PRPS1 deficiency disorder MONDO:0100061",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:35:40.727026+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6720",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PRPS1 were set to 24961627",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:35:17.924803+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6719",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PRPS1 as ready",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:35:17.901365+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6719",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: prps1 has been classified as Green List (High Evidence).",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:35:17.142342+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6719",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PRPS1 were changed from to PRPS1 deficiency disorder MONDO:0100061",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:34:55.116105+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6719",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PRPS1 were set to ",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:34:20.958475+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6719",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRPS1 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": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:33:38.688449+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6718",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24961627; Phenotypes: PRPS1 deficiency disorder MONDO:0100061; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:31:47.245666+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6718",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRODH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:31:29.535000+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6718",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PRODH as ready",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:31:29.517055+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6718",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: prodh has been classified as Green List (High Evidence).",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:31:22.367825+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6718",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRODH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:30:54.264887+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6718",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PRODH were set to 17412540; 12217952",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:30:27.425144+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6717",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:29:57.086703+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6717",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PRODH were set to ",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:29:28.933489+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6717",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PRODH were changed from to Hyperprolinemia, type I MIM#239500",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:28:44.854247+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6716",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PRODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 17412540, 12217952; Phenotypes: Hyperprolinemia, type I MIM#239500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:28:10.698264+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6716",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PPT1 were changed from Ceroid lipofuscinosis, neuronal, 1 MIM#256730 to Ceroid lipofuscinosis, neuronal, 1 MIM#256730",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:27:47.211585+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6716",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:27:28.079730+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6715",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PPT1 as ready",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:27:28.060051+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6715",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ppt1 has been classified as Green List (High Evidence).",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:27:17.745514+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6715",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 MIM#256730",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:26:40.084436+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6715",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:26:15.819846+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6715",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PPT1 were set to ",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T14:25:33.793452+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6714",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 9664077; Phenotypes: Ceroid lipofuscinosis, neuronal, 1 MIM#256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:58:26.057670+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTSJ1 as ready",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:58:26.038678+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftsj1 has been classified as Green List (High Evidence).",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:54:33.418628+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTSJ1 were changed from Intellectual developmental disorder, X-linked 9, MIM#\t309549 to Intellectual developmental disorder, X-linked 9, MIM#\t309549; X-linked complex neurodevelopmental disorder MONDO:0100148",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:53:49.379391+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTSJ1 were changed from to Intellectual developmental disorder, X-linked 9, MIM#\t309549",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:53:14.328102+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FTSJ1 were set to ",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:51:30.194704+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FTSJ1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:49:29.942781+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PPP3CA as ready",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:49:29.925290+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ppp3ca has been classified as Green List (High Evidence).",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:44:51.171039+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PPP3CA were set to ",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:44:24.110810+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PPP3CA were changed from to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265; Developmental and epileptic encephalopathy 91 MIM617711",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:43:59.575850+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:43:15.649172+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6709",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29432562, 32593294; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265, Developmental and epileptic encephalopathy 91 MIM617711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:38:32.060931+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6709",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: POMT2 as ready",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:38:32.027576+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6709",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Green List (High Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:38:31.694620+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6709",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POMT2 were changed from myopathy caused by variation in POMT2 MONDO:0700071 to myopathy caused by variation in POMT2 MONDO:0700071",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:37:55.739695+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6708",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POMT2 were changed from to myopathy caused by variation in POMT2 MONDO:0700071",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:37:26.694982+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6708",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:36:41.455381+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6707",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:36:41.442592+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6707",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Green List (High Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:36:27.814087+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6707",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: myopathy caused by variation in POMT2 MONDO:0700071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:36:20.104768+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6707",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from to myopathy caused by variation in POMT1 MONDO:0700070",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:35:55.282722+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6707",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:35:18.440023+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6706",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: myopathy caused by variation in POMT1 MONDO:0700070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:34:21.922892+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6706",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: POMGNT2 as ready",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:34:21.911230+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6706",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pomgnt2 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:34:11.298539+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6706",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT2 were changed from to myopathy caused by variation in POMGNT2 MONDO:0700069",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:33:47.712485+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6706",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:33:09.107870+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6705",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: myopathy caused by variation in POMGNT2 MONDO:0700069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:29:26.216351+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6705",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:29:26.204876+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6705",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:28:44.087086+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6705",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from myopathy caused by variation in POMGNT1 MONDO:0700068 to myopathy caused by variation in POMGNT1 MONDO:0700068",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:28:18.297070+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6705",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:26:10.167181+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6704",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from myopathy caused by variation in POMGNT1 MONDO:0700068 to myopathy caused by variation in POMGNT1 MONDO:0700068",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:25:44.264912+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6704",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:25:19.700865+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6704",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from to myopathy caused by variation in POMGNT1 MONDO:0700068",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:24:55.721984+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6704",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:24:36.022909+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6703",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: DD/ID is a feature\r\n\r\nthe following has been lumped by clingen as one entity\r\n\r\nMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3\tMIM#253280\r\nMuscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3\tMIM#613151\t\r\nMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3\tMIM#613157; to: DD/ID is a feature\r\n\r\nthe following has been lumped by clingen as one entity\r\n\r\nMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3\tMIM#253280\r\nMuscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3\tMIM#613151\t\r\nMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3\tMIM#613157\r\n\r\nhttps://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03bb8479-2ed3-4b15-9e54-378ea0729ab2-2024-08-14T190000.000Z?page=1&size=25&search=",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:24:05.332750+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6703",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: myopathy caused by variation in POMGNT1 MONDO:0700068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:23:49.972438+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6703",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: POLR3B as ready",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:23:49.960110+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6703",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: polr3b has been classified as Green List (High Evidence).",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:22:24.226190+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6703",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR3B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:21:40.830796+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6702",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR3B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:21:17.390602+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6702",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: POLR3K as ready",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:21:17.370685+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6702",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: polr3k has been classified as Green List (High Evidence).",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:21:13.078115+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6702",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3B were changed from to POLR3B-related disorder MONDO:0700277; Charcot-Marie-Tooth disease, demyelinating, type 1I MIM#619742; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:20:46.779258+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6702",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: POLR3B were set to ",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:19:56.164543+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6701",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33417887; Phenotypes: POLR3B-related disorder MONDO:0700277, Charcot-Marie-Tooth disease, demyelinating, type 1I MIM#619742, Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:18:35.715831+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDCD1 were changed from Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004 to Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004",
"entity_name": "PDCD1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:18:19.815590+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6701",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: POLR3A as ready",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:18:19.800214+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6701",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Green List (High Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:17:48.440117+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6701",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from POLR3A-related disorder MONDO:0700276 to POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:17:45.662161+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDCD1 were changed from Complex Autoimmunity; Inborn errors of immunity, MONDO:0003778 to Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004",
"entity_name": "PDCD1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:17:15.006696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6700",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from to POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:16:45.130816+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6700",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:16:29.816370+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDCD1 were changed from PDCD1 deficiency; Inborn errors of immunity, MONDO:0003778 to Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# \t621004",
"entity_name": "PDCD1",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:15:46.836797+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6699",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: POLR3A-related disorder MONDO:0700276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:15:44.390734+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6699",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450; Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640 to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450; Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:15:34.233188+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6699",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:15:34.220800+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6699",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:15:13.226415+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6699",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: POLG were set to 20301791",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:14:48.313836+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6698",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: POLG were set to 20301791",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:14:24.217473+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6698",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: POLG were set to ",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:14:00.815368+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6698",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450; Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:13:26.189922+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6698",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:12:35.346188+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6697",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301791; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459, Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450, Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:12:04.029129+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6697",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PNPLA6 were set to 25299038",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:11:37.312459+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6697",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA6 were changed from retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155 to retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2024-11-14T13:11:08.186546+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6697",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA6 were changed from retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155 to retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155",
"entity_name": "PNPLA6",
"entity_type": "gene"
}
]
}