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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=373",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=371",
"results": [
{
"created": "2024-10-06T09:44:57.295880+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptf1a has been classified as Green List (High Evidence).",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:44:51.781214+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, MIM# 609069",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:44:13.973146+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTF1A were set to ",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:42:50.736928+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTF1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:42:10.996213+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21749365, 10507728, 15543146, 19650412; Phenotypes: Pancreatic and cerebellar agenesis, MIM# 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:40:16.520165+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTDSS1 as ready",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:40:16.478174+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptdss1 has been classified as Green List (High Evidence).",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:40:14.551867+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTDSS1 were changed from Lenz-Majewski hyperostotic dwarfism MIM#151050 to Lenz-Majewski hyperostotic dwarfism MIM#151050",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:39:36.517522+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTDSS1 were changed from to Lenz-Majewski hyperostotic dwarfism MIM#151050",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:38:47.247232+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTDSS1 were set to ",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:38:00.366362+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTDSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:37:19.458051+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PTDSS1: Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation.\r\n\r\nMultiple families. Gain-of-function is the established or expected mechanism of disease for these variants.",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:36:43.942235+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTDSS1: Changed publications: 24241535, 29341480, 31403251",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:36:15.289139+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lenz-Majewski hyperostotic dwarfism MIM#151050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:35:29.349571+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCH1 as ready",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:35:29.330837+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Green List (High Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:35:19.324676+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH1 were changed from to Holoprosencephaly 7, MIM# 610828",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:34:40.028624+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:34:03.509890+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:33:17.318319+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 7, MIM# 610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-10-06T09:32:46.340129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7, MIM# 610828 to Holoprosencephaly 7, MIM# 610828; Bladder exstrophy and epispadias complex (BEEC)",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:48:18.743253+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KBTBD2 as ready",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:48:18.727644+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kbtbd2 has been classified as Green List (High Evidence).",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:47:58.393276+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KBTBD2 as Green List (high evidence)",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:47:58.380714+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kbtbd2 has been classified as Green List (High Evidence).",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:46:54.102774+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KBTBD2 was added\ngene: KBTBD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KBTBD2 were set to 39313616\nPhenotypes for gene: KBTBD2 were set to neurodevelopmental disorder MONDO:0700092, KBTBD2-related\nReview for gene: KBTBD2 was set to GREEN\nAdded comment: 3 families - 2 compound hets and 1 hom\r\n\r\nphenotypes include:\r\nMicrocephaly, hypotonia, failure to thrive, IUGR, delayed gross motor development, dysmorphism \nSources: Literature",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:44:04.124656+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP2K1 as ready",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:44:04.113802+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:43:55.669585+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP2K1 were changed from to Cardiofaciocutaneous syndrome 3, MIM# 615279",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:43:07.936891+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP2K1 were set to 16439621; 17551924; 18042262; 20301365",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:42:17.863129+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP2K1 were set to ",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:41:04.744450+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MAP2K1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:40:20.132198+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP2K1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:36:10.124990+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP2K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:35:07.496191+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP2K2 as ready",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:35:07.475874+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k2 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:34:57.144314+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP2K2 were changed from to Cardiofaciocutaneous syndrome 3, MIM# 615279",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:34:09.168941+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:33:25.144715+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP2K2 were set to ",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:32:12.214949+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP2K2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:31:15.518856+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAT1A as ready",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:31:15.498374+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mat1a has been classified as Green List (High Evidence).",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:31:04.445190+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAT1A were changed from to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:30:19.209711+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAT1A were set to ",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:29:28.959243+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAT1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:28:27.998869+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBOAT7 as ready",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:28:27.985210+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mboat7 has been classified as Green List (High Evidence).",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:15:50.475584+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBOAT7 were changed from to Intellectual disability MIM#617188",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:15:11.684035+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MBOAT7 were set to ",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:14:11.685539+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MBOAT7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:13:14.481741+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKKS as ready",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:13:14.465274+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkks has been classified as Green List (High Evidence).",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:13:05.332491+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKKS were changed from to McKusick-Kaufman syndrome, MIM# 236700; Bardet-Biedl syndrome 6, MIM# 605231; Retinitis pigmentosa",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:12:18.245582+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKKS were set to ",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:11:29.409397+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:10:28.232726+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKS1 as ready",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:10:28.218117+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mks1 has been classified as Green List (High Evidence).",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:10:19.027969+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKS1 were changed from to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:09:31.479132+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKS1 were set to ",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:08:16.986571+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:07:19.284428+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MLC1 as ready",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:07:19.268269+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mlc1 has been classified as Green List (High Evidence).",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:07:06.541419+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MLC1 were changed from to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:06:24.308504+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MLC1 were set to ",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:03:28.695487+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:00:58.710143+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMAA as ready",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:00:58.683865+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmaa has been classified as Green List (High Evidence).",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2024-10-05T22:00:49.327274+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMAA were changed from to Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:59:55.510862+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMAA were set to ",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:59:03.478628+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:58:10.538350+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMAB as ready",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:58:10.524932+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmab has been classified as Green List (High Evidence).",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:58:00.506847+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMAB were changed from to Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:57:13.876324+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMAB were set to ",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:55:32.210092+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:54:25.855969+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMADHC as ready",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:54:25.842895+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmadhc has been classified as Green List (High Evidence).",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:54:15.752179+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMADHC were changed from to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:53:26.037522+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMADHC were set to ",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:52:34.858102+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMADHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:51:40.373585+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUT as ready",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:51:40.359154+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mut has been classified as Green List (High Evidence).",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:51:30.729491+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MUT were changed from to Methylmalonic aciduria, mut(0) type, MIM# 251000",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:50:42.437634+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUT were set to ",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:49:43.278268+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MUT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:48:46.655056+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOCS2 as ready",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:48:46.644638+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs2 has been classified as Green List (High Evidence).",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:48:30.771390+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:44:14.472336+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOCS2 were set to ",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:41:18.664699+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MOCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:37:32.257091+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP5 as ready",
"entity_name": "BMP5",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:37:32.229162+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp5 has been classified as Red List (Low Evidence).",
"entity_name": "BMP5",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:37:28.490177+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP5 were changed from Skeletal dysostosis and atrioventricular septal defect to Skeletal dysplasia, MONDO:0018230, BMP5-related; Skeletal dysostosis and atrioventricular septal defect",
"entity_name": "BMP5",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:36:45.229426+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, BMP5-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMP5",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:36:17.838834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP5 as ready",
"entity_name": "BMP5",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:36:17.820313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp5 has been classified as Red List (Low Evidence).",
"entity_name": "BMP5",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:36:01.417787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP5 were changed from Skeletal dysostosis and atrioventricular septal defect, no OMIM# to Skeletal dysplasia, MONDO:0018230, BMP5-related; Skeletal dysostosis and atrioventricular septal defect, no OMIM#",
"entity_name": "BMP5",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:34:50.913461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP5 were set to ",
"entity_name": "BMP5",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:33:54.643851+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RELB were set to 7834753; 26385063",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:32:48.086758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RELB were set to 7834753; 26385063",
"entity_name": "RELB",
"entity_type": "gene"
}
]
}