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{
"count": 220451,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=958",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=956",
"results": [
{
"created": "2022-03-01T18:25:24.018792+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAI1 were changed from SMITH-MAGENIS SYNDROME to Smith-Magenis syndrome (MIM#182290)",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:25:13.012313+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAI1 were set to ",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:25:01.293956+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:24:48.630836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, multiple congenital anomalies.",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:23:53.434180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAPSN as ready",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:23:53.400990+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rapsn has been classified as Green List (High Evidence).",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:23:46.225462+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAPSN were changed from FETAL AKINESIA DEFORMATION SEQUENCE; CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326; Fetal akinesia deformation sequence 2, MIM# 618388",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:23:23.270303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAPSN: Changed phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326, Fetal akinesia deformation sequence 2, MIM# 618388",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:23:01.398880+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: Fetal akinesia, contractures.",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:22:40.943019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAPSN: Changed rating: GREEN",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:21:41.239011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARB as ready",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:21:41.227143+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rarb has been classified as Green List (High Evidence).",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:21:36.699489+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RARB were changed from MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA to Microphthalmia, syndromic 12, MIM# 615524",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:21:24.435261+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RARB were set to ",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:20:52.678636+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARS2 as ready",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:20:52.666064+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rars2 has been classified as Green List (High Evidence).",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:20:48.726133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RARS2 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 6 to Pontocerebellar hypoplasia, type 6, MIM# 611523",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:20:36.913345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RARS2 were set to 26083569",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:20:20.254210+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive microcephaly is part of the phenotype. At least three unrelated families reported.; to: Progressive microcephaly, PCH. At least three unrelated families reported.",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:18:55.667934+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASA1 as ready",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:18:55.657527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Green List (High Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:18:51.510869+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RASA1 were changed from PARKES WEBER SYNDROME; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION to Capillary malformation-arteriovenous malformation 1, MIM# 608354",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:18:38.130838+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RASA1 were set to ",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:18:27.992614+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RASA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:18:13.749527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported as part of a cohort. \nSources: Literature; to: AV malformations/fistulas, which can be large.\r\nSources: Literature",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:17:51.992043+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RASA1: Changed rating: GREEN; Changed phenotypes: Capillary malformation-arteriovenous malformation 1, MIM# 608354",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:16:53.638418+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAX as ready",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:16:53.624305+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rax has been classified as Green List (High Evidence).",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:16:49.476527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAX were changed from MICROPHTHALMIA ISOLATED TYPE 3 to Microphthalmia, isolated 3, MIM# 611038",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:16:37.664485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAX were set to ",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:15:45.381346+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM8A as ready",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:15:45.371474+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm8a has been classified as Green List (High Evidence).",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:15:41.371406+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBM8A were changed from THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME to Thrombocytopaenia-absent radius syndrome, MIM# 274000",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:15:22.518974+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: RBM8A.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:14:33.913303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBPJ as ready",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:14:33.902113+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbpj has been classified as Green List (High Evidence).",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:14:27.497180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBPJ were changed from ADAMS OLIVER SYNDROME to Adams-Oliver syndrome 3, MIM#614814",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:14:14.707773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBPJ was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:14:02.689124+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: One of the original families described as having no intellectual disability and the other with mild, so I don't think ID is a core feature of the phenotype.; to: Transverse limb defects.",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:13:48.853251+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RBPJ: Changed rating: GREEN",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:13:02.296773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RECQL4 as ready",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:13:02.285677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Green List (High Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-03-01T15:54:18.331717+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MCM7 was added\ngene: MCM7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM7 were set to 33654309; 34059554\nPhenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency\nReview for gene: MCM7 was set to AMBER\nAdded comment: Association with congenital microcephaly. No new publications since last PanelApp review\r\n\r\n---\r\n\r\nMCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present. ------ Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.\r\n\r\n- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.\r\n\r\n- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7. \nSources: Literature",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2022-03-01T15:22:34.981423+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LMNB2 was added\ngene: LMNB2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMNB2 were set to 33033404\nPhenotypes for gene: LMNB2 were set to Microcephaly 27, primary, autosomal dominant - MIM#619180\nReview for gene: LMNB2 was set to GREEN\nAdded comment: Almost all reported individuals had congenital microcephaly. \nSources: Literature",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2022-03-01T15:14:39.729184+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LMNB1 was added\ngene: LMNB1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMNB1 were set to 32910914\nPhenotypes for gene: LMNB1 were set to Microcephaly 26, primary, autosomal dominant - MIM#619179\nReview for gene: LMNB1 was set to GREEN\nAdded comment: Monoallelic variants associated with profound microcephaly - this was noted antenatally in 5 unrelated individuals (total of 8 individuals from 5 families reported) \nSources: Literature",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2022-03-01T15:04:07.199144+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LINGO1 was added\ngene: LINGO1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LINGO1 were set to 28837161; 31668702\nPhenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64 - MIM#618103\nReview for gene: LINGO1 was set to AMBER\nAdded comment: 5 individuals reported from 2 families. 4 out of the 5 individuals had microcephaly. ID, developmentatl delay, spasticity, hypertonia, feeding problems also reported features. No antenatal information or birth growth parameters provided, but it is possible that microcephaly was antenatal/congenital in onset based on other phenotypic features reported. \nSources: Literature",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2022-03-01T14:51:19.358995+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LAGE3 was added\ngene: LAGE3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: LAGE3 were set to 31069511; 28805828\nPhenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked - MIM#301006\nReview for gene: LAGE3 was set to GREEN\nAdded comment: Phenotypic features detectable antenatally include microcephaly, IUGR and brain malformations. \nSources: Literature",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2022-03-01T14:38:38.737762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KIF21B was added\ngene: KIF21B was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF21B were set to 32415109\nPhenotypes for gene: KIF21B were set to Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly\nReview for gene: KIF21B was set to GREEN\nAdded comment: Monoallelic variants associated with a neurodevelopmental disorder. Phenotypic features include ID, corpus callosum anomalies and microcephaly. PMID 32415109 report 4 unrelated individuals, 2 had IUGR +/- oligohydramnios. \nSources: Literature",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:37:44.129448+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PSAP as ready",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:37:44.115309+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: psap has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:37:37.960671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4478",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: PSAP were changed from ATYPICAL KRABBE DISEASE to Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722, MONDO:0012720; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590; Gaucher disease, atypical, MIM# 610539, MONDO:0012517",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:37:06.589197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4477",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PSAP as Amber List (moderate evidence)",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:37:06.583114+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4477",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Onset in infancy, amber for fetal anomalies",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:37:06.551460+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4477",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: psap has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:36:19.242348+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4476",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590, Gaucher disease, atypical, MIM# 610539, MONDO:0012517 Edit; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:30:07.994280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11086",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PTCH1 as ready",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:30:07.982324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11086",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Green List (High Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:29:47.157353+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11086",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH1 were changed from to Holoprosencephaly 7, MIM# 610828",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:29:25.208848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11085",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: PTCH1 were set to ",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:29:07.192794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11084",
"user_name": "Seb Lunke",
"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": "2022-03-01T13:28:45.963934+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4476",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PTCH1 as ready",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:28:45.951126+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4476",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Green List (High Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:28:30.751012+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4476",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: PTCH1 were set to ",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:28:19.745031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4475",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH1 were changed from HOLOPROSENCEPHALY-7; BASAL CELL NEVUS SYNDROME to Holoprosencephaly 7, MIM# 610828",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:28:02.696251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11083",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11941477, 17001668, 29575684; Phenotypes: Holoprosencephaly 7, MIM# 610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:27:33.625818+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4474",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:25:13.281319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4473",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PTPN11 as ready",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:25:13.272335+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4473",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Green List (High Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:24:34.410211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4473",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN11 were changed from LEOPARD SYNDROME TYPE 1; NOONAN SYNDROME 1 to LEOPARD syndrome 1, AD, MIM#151100 AD; Noonan syndrome 1, AD, MIM#163950",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:22:20.508128+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4472",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: PTPN11 were set to 30266093; 28425981",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:21:46.959244+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4471",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPN11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:19:36.579578+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4470",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PUF60 as ready",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:19:36.568430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4470",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: puf60 has been classified as Green List (High Evidence).",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:19:18.438436+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4470",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: PUF60 were changed from PUF60 syndrome to Verheij syndrome, MIM# 615583",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:19:05.996206+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4469",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: PUF60 were set to ",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:18:52.834104+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4468",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUF60 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:16:32.669479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11083",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RECQL4 as ready",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:16:32.659816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11083",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Green List (High Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:16:24.540123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11083",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:16:05.618401+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11082",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:15:41.955849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11081",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baller-Gerold syndrome, MIM# 218600, RAPADILINO syndrome, MIM# 266280, Rothmund-Thomson syndrome, type 2,MIM# 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:13:45.850795+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4467",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: RECQL4 were changed from RAPADILINO SYNDROME; ROTHMUND-THOMSON SYNDROME; BALLER-GEROLD SYNDROME to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM#268400",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:10:53.203121+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4466",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RERE as ready",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:10:53.192042+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4466",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rere has been classified as Green List (High Evidence).",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:10:48.777428+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4466",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: RERE were changed from Phenocopy of Proximal 1p36 Deletions to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:10:35.315505+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4465",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: RERE were set to ",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2022-03-01T13:10:21.362999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4464",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: RERE was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2022-03-01T12:44:57.953311+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RET as ready",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2022-03-01T12:44:57.935936+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ret has been classified as Green List (High Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2022-03-01T12:44:53.071664+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RET were changed from RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB to Central hypoventilation syndrome, congenital, MIM#209880; Multiple endocrine neoplasia IIA, MIM#171400; Multiple endocrine neoplasia IIB, MIM#162300",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2022-03-01T12:44:10.526240+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RET was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2022-03-01T12:43:10.319066+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNORD118 as ready",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-03-01T12:43:10.307328+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snord118 has been classified as Green List (High Evidence).",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-03-01T12:43:06.069801+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNORD118 were changed from Leukoencephalopathy with cerebral calcification & cysts to Leukoencephalopathy, brain calcifications, and cysts, MIM# 614561",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-03-01T12:42:50.937077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNORD118 were set to ",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-03-01T12:42:17.986725+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Many reported individuals have ID; however overall this is a progressive neurological disorder with variable onset, including in late adulthood.; to: Variable onset, including in infancy with brain abnormalities detectable by imaging.",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-03-01T12:41:56.144071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNORD118: Changed rating: GREEN",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-03-01T11:16:01.418050+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: Megacolon is a feature.",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2022-03-01T11:15:46.136747+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RET: Changed rating: GREEN",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2022-03-01T11:13:14.184318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFX6 as ready",
"entity_name": "RFX6",
"entity_type": "gene"
}
]
}