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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=920",
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"results": [
{
"created": "2022-03-23T16:28:00.169782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STX2 as Red List (low evidence)",
"entity_name": "STX2",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:28:00.160462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx2 has been classified as Red List (Low Evidence).",
"entity_name": "STX2",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:27:38.001358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "STX2",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:26:19.743899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STX4 as ready",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:26:19.734429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx4 has been classified as Red List (Low Evidence).",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:26:08.605869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STX4 as Red List (low evidence)",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:26:08.593471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx4 has been classified as Red List (Low Evidence).",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:25:49.144101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:23:56.202359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP2 as ready",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:23:56.192206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp2 has been classified as Green List (High Evidence).",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:23:47.047791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP2 were changed from to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:23:18.727578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STXBP2 were set to ",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:22:57.554593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STXBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:22:36.415029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19804848; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:18:17.444679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SULT2B1 as ready",
"entity_name": "SULT2B1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:18:17.431436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sult2b1 has been classified as Green List (High Evidence).",
"entity_name": "SULT2B1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:18:06.463273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SULT2B1 were changed from to Ichthyosis, congenital, autosomal recessive 14, MIM# 617571",
"entity_name": "SULT2B1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:17:40.071210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SULT2B1 were set to ",
"entity_name": "SULT2B1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:17:15.546987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SULT2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SULT2B1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:16:55.809890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575648; Phenotypes: Ichthyosis, congenital, autosomal recessive 14, MIM# 617571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SULT2B1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:13:22.072744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUMF1 as ready",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:13:22.060141+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sumf1 has been classified as Green List (High Evidence).",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:13:04.114011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUMF1 were changed from to Multiple sulfatase deficiency (MIM#272200)",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:12:42.577458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUMF1 were set to ",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:10:50.844930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:10:30.128455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17360554, 25885655, 28566233; Phenotypes: Multiple sulfatase deficiency (MIM#272200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:09:07.482275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUMO4 as ready",
"entity_name": "SUMO4",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:09:07.472625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sumo4 has been classified as Red List (Low Evidence).",
"entity_name": "SUMO4",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:08:57.890808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUMO4 were changed from to {Diabetes mellitus, insulin-dependent, 5} 600320",
"entity_name": "SUMO4",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:04:09.694257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUMO4 were set to ",
"entity_name": "SUMO4",
"entity_type": "gene"
},
{
"created": "2022-03-23T16:03:46.578936+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUMO4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUMO4",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:59:39.074945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUMO4 as Red List (low evidence)",
"entity_name": "SUMO4",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:59:39.063881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sumo4 has been classified as Red List (Low Evidence).",
"entity_name": "SUMO4",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:59:02.123603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUMO4: Rating: RED; Mode of pathogenicity: None; Publications: 15123604; Phenotypes: {Diabetes mellitus, insulin-dependent, 5} 600320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUMO4",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:57:24.570488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SURF1 as ready",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:57:24.559870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Green List (High Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:57:17.005817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:56:52.073978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SURF1 were set to ",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:56:27.561075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:56:06.453699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association with mitochondrial disease.",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:55:49.188257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843204, 9837813; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:53:59.483391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUZ12 as ready",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:53:59.471314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suz12 has been classified as Green List (High Evidence).",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:53:52.042225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUZ12 were changed from to Imagawa-Matsumoto syndrome, MIM# 618786",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:53:49.869372+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUZ12 as ready",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:53:49.858586+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suz12 has been classified as Green List (High Evidence).",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:53:43.419520+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUZ12 were changed from to Imagawa-Matsumoto syndrome, MIM# 618786",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:53:13.020731+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUZ12 were set to ",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:52:44.450554+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUZ12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:52:22.663935+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUZ12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:52:07.346283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUZ12 were set to ",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:51:26.272603+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:51:03.468528+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUZ12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:50:09.153665+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported, ID and overgrowth.",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T15:49:47.214390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2022-03-23T14:07:16.909908+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NLGN3: Rating: ; Mode of pathogenicity: None; Publications: 28584888, 12669065, 25167861; Phenotypes: {Asperger syndrome susceptibility, X-linked 1} - MIM#300494, {Autism susceptibility, X-linked 1} - MIM#300425; 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": "NLGN3",
"entity_type": "gene"
},
{
"created": "2022-03-23T14:07:13.161566+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NLGN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28584888, 12669065, 25167861; Phenotypes: {Asperger syndrome susceptibility, X-linked 1} - MIM#300494, {Autism susceptibility, X-linked 1} - MIM#300425; 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": "NLGN3",
"entity_type": "gene"
},
{
"created": "2022-03-23T14:07:10.920188+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.175",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NLGN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28584888, 12669065, 25167861; Phenotypes: {Asperger syndrome susceptibility, X-linked 1} - MIM#300494, {Autism susceptibility, X-linked 1} - MIM#300425; Mode of inheritance: None",
"entity_name": "NLGN3",
"entity_type": "gene"
},
{
"created": "2022-03-23T14:01:53.446218+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35021282, 32823520, 34067185, 34361012; Phenotypes: Spinocerebellar ataxia 19 MIM#607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:16:07.183656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia - MIM#613330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:15:58.570972+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.59",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:13:55.297805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 - MIM#612281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:12:03.787736+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737; Phenotypes: Nance-Horan syndrome - MIM#302350, Cataract 40, X-linked - MIM#302200; 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": "NHS",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:12:00.937417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737; Phenotypes: Nance-Horan syndrome - MIM#302350, Cataract 40, X-linked - MIM#302200; 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": "NHS",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:04:07.597710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NFKBIL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Rheumatoid arthritis, susceptibility to} - MIM#180300; Mode of inheritance: None",
"entity_name": "NFKBIL1",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:00:54.619267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2022-03-23T13:00:20.057638+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.417",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:59:01.554244+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIA",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:24:12.522262+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:24:01.481398+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.417",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:23:10.347204+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.11",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NEXN was added\ngene: NEXN was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NEXN were set to 33947203; 33949776; 35166435; 32058062\nPhenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122\nReview for gene: NEXN was set to GREEN\nAdded comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy.\r\n\r\nPMID 35166435 - 3 consecutive affected pregnancies with intrauterine fetal death, dilated cardiomyopathy +/- fetal hydrops/IUGR. Autopsy findings of DCM, endomyocardial fibroelastosis. Non-consanguineous Swedish family. Homozygous variant identified - (NM_144573:c.1302del;p.(Ile435Serfs*3)). Heterozygous carriers enriched in Swedish population.\r\n\r\n\r\nPMID: 33949776 - Report a 11 year old with mild DCM on cardiac MRI with a heterozygous paternally inherited variant (1949_1951del), father also had mild DCM. Also report a 2nd patient who presented with fetal Hydrops at 33 weeks gestation requiring emergency C-section. Homozygous c.1174C > T,p.(R392*) variants identified. Microscopic investigation showed endomyocardial fibroelastosis. \r\n\r\nPMID: 32058062 - male fetus, compound het, DCM, MTOP; previous pregnancy with the same history. \nSources: Literature",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:22:55.416692+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.228",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NEXN was added\ngene: NEXN was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NEXN were set to 33947203; 33949776; 35166435\nPhenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122\nReview for gene: NEXN was set to GREEN\nAdded comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy. Fetal Hydrops reported in two of these families.\r\n\r\nPMID 35166435 - 3 consecutive affected pregnancies with intrauterine fetal death, dilated cardiomyopathy +/- fetal hydrops/IUGR. Autopsy findings of DCM, endomyocardial fibroelastosis. Non-consanguineous Swedish family. Homozygous variant identified - (NM_144573:c.1302del;p.(Ile435Serfs*3)). Heterozygous carriers enriched in Swedish population.\r\n\r\n\r\nPMID: 33949776 - Report a 11 year old with mild DCM on cardiac MRI with a heterozygous paternally inherited variant (1949_1951del), father also had mild DCM. Also report a 2nd patient who presented with fetal Hydrops at 33 weeks gestation requiring emergency C-section. Homozygous c.1174C > T,p.(R392*) variants identified. Microscopic investigation showed endomyocardial fibroelastosis. \r\n\r\nPMID: 32058062 - male fetus, compound het, DCM, MTOP; previous pregnancy with the same history. \nSources: Literature",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:05:07.198200+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.330",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SUFU as ready",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:05:07.184576+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.330",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:04:56.033969+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.330",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SUFU as Green List (high evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:04:56.029721+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.330",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with paediatric-onset ataxia with oculomotor apraxia",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:04:56.002960+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.330",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T12:04:10.166505+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.329",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: SUFU was added\ngene: SUFU was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SUFU were set to 33024317\nPhenotypes for gene: SUFU were set to congenital ocular motor apraxia (forme fruste of Joubert syndrome)\nReview for gene: SUFU was set to GREEN\ngene: SUFU was marked as current diagnostic\nAdded comment: Clinical features include congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI shows consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.\r\n\r\nSUFU-associated Basal cell nevus syndrome (Gorlin) are likely allelic disorders, as there is currently no convincing evidence for a clinical overlap. \nSources: Literature",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:36:42.043635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK2 as ready",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:36:42.033617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:36:32.334609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK2 were changed from to Retinitis pigmentosa 67, MIM#615565",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:36:06.553382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK2 were set to ",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:34:51.200491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:34:29.460956+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK2 as Amber List (moderate evidence)",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:34:29.446953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:33:18.311886+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.; to: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, or episodic regression with cavitating leukoencephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:32:42.905612+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFV2: Changed publications: 12754703, 26008862, 29554876, 33811136",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:30:50.724319+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV2 as ready",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:30:50.715080+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv2 has been classified as Green List (High Evidence).",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:30:47.961599+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:30:18.307395+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFV2 were set to ",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:29:25.138143+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:28:47.608253+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV2 as ready",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:28:47.597846+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:28:44.687060+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:28:14.103701+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFV2 were set to ",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:27:42.449084+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:27:10.276245+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFV2 as Amber List (moderate evidence)",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:27:10.266663+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T09:26:30.836960+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV2 as ready",
"entity_name": "NDUFV2",
"entity_type": "gene"
}
]
}