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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=536",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=534",
"results": [
{
"created": "2023-10-19T08:50:28.486515+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-10-19T08:50:02.173700+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTAN1 were changed from Spastic Paraplegia MONDO:0019064, SPTAN1-related to Spastic Paraplegia MONDO:0019064, SPTAN1-related; Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-10-19T08:49:34.888657+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-10-19T08:48:02.290235+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ7 were changed from Coenzyme Q10 deficiency, primary, 8 MIM#616733 to Coenzyme Q10 deficiency, primary, 8 MIM#616733; Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2023-10-19T08:47:40.813302+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ7 were set to 26084283; 31240163; 33215859; 28409910",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2023-10-19T08:47:16.290604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: 36758993, 36759155; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2023-10-19T08:44:07.120900+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ7 were changed from Distal hereditary motor neuropathy, COQ7-related (MONDO#0018894) to Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2023-10-19T08:43:41.817973+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2023-10-18T14:06:47.691882+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5592",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZFHX3 as Green List (high evidence)",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-18T14:06:47.653222+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5592",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zfhx3 has been classified as Green List (High Evidence).",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-18T14:06:46.074733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1308",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZFHX3 as Green List (high evidence)",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-18T14:06:46.035593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1308",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zfhx3 has been classified as Green List (High Evidence).",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-18T14:06:22.432489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1307",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZFHX3 as Green List (high evidence)",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-18T14:06:22.417615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1307",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zfhx3 has been classified as Green List (High Evidence).",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-18T14:05:47.804357+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5591",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: ZFHX3: Added comment: 41 patients with protein truncating variants (PTVs) or (partial) deletions of ZFHX3. Presentations included (mild) ID and/or behavioural problems, postnatal growth retardation, feeding difficulties, dysmorphism (rarely cleft palate). Nuclear abundance of ZFHX3 increases during human brain development and neuronal differentiation in neural stem cells and SH-SY5Y cells, ZFHX3 interacts with the chromatin remodelling BRG1/Brm-associated factor complex and the cleavage and polyadenylation complex. ZFHX3 haploinsufficiency associates with a specific DNA methylation profile in leukocyte-derived DNA, and participates in chromatin remodelling and mRNA processing.; Changed rating: GREEN; Changed publications: PMID: 37292950; Changed phenotypes: Neurodevelopmental disorder; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-18T14:05:45.210950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1306",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37292950; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-17T11:54:53.888014+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.158",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: KDM2B: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, KDM2B-related",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2023-10-17T11:54:47.856924+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5591",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: KDM2B: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, KDM2B-related",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2023-10-17T11:54:40.291658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1306",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: KDM2B: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, KDM2B-related",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2023-10-17T11:54:30.101724+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.295",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: KDM2B: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, KDM2B-related",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2023-10-17T11:54:25.314666+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5591",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#070009, KDM2B-related to neurodevelopmental disorder MONDO#0700092, KDM2B-related",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2023-10-17T11:54:23.444834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1306",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#070009, KDM2B-related to neurodevelopmental disorder MONDO#0700092, KDM2B-related",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2023-10-17T11:54:13.533791+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.158",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#070009, KDM2B-related to neurodevelopmental disorder MONDO#0700092, KDM2B-related",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2023-10-17T11:53:57.980971+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.295",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#070009, KDM2B-related to neurodevelopmental disorder MONDO#0700092, KDM2B-related",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:45:02.118225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM83G were changed from Palmoplantar keratoderma, curly scalp hair and toenail dystrophy to Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:44:41.945552+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAM83G: Changed phenotypes: Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:44:25.883207+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM83G were changed from Palmoplantar keratoderma, curly scalp hair and toenail dystrophy to Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:43:50.923424+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM83G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:40:04.647687+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAAP24 were changed from EBV infection-driven lymphoproliferative disease to Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:39:46.584120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAAP24: Changed phenotypes: Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:39:29.391626+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAAP24 were changed from EBV infection-driven lymphoproliferative disease to Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:38:48.362398+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAAP24: Changed phenotypes: Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:33:30.661337+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD50 as ready",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:33:30.649721+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Green List (High Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:33:27.513888+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD50 were changed from Hypogammaglobulinaemia to Nijmegen breakage syndrome-like disorder, MIM# 613078; Hypogammaglobulinaemia",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:32:37.353455+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAD50 as Green List (high evidence)",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:32:37.341185+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Green List (High Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:02:14.339652+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF148 as ready",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:02:14.331268+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf148 has been classified as Green List (High Evidence).",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:59:56.242082+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GALNT1 as ready",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:59:56.233180+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galnt1 has been classified as Green List (High Evidence).",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:59:49.162620+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALNT1 were changed from to Spastic paraplegia 26, autosomal recessive (MIM #609195)",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:59:19.528349+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B4GALNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:58:46.107572+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM #609195); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:57:23.648259+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUH as ready",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:57:23.630455+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auh has been classified as Green List (High Evidence).",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:57:18.261249+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUH were changed from to 3-methylglutaconic aciduria, type I, MIM# 250950",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:56:46.081601+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:56:12.483586+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:54:49.588110+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0A2 as ready",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:54:49.576348+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:54:44.016293+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A2 were changed from to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:54:11.748337+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2023-10-16T17:53:42.316380+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:21:26.083137+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATR as ready",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:21:26.066105+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atr has been classified as Green List (High Evidence).",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:21:22.165319+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from to Seckel syndrome 1, MIM# 210600",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:20:21.941535+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:19:53.408038+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seckel syndrome 1, MIM# 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:18:55.827381+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1B2 as ready",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:18:55.816681+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:18:50.193428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V1B2 were changed from to Zimmermann-Laband syndrome 2, MIM# 616455",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:18:23.518707+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6V1B2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:17:48.816533+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V1B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:16:43.695256+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6AP2 as ready",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:16:43.673274+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:16:39.622096+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6AP2 were changed from to Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:16:04.402917+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6AP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2023-10-16T14:15:35.458073+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ATP6AP2: These two conditions likely represent a spectrum of severity for a single disorder. ID is a feature of both.",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2023-10-16T12:19:49.162037+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.48",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: RAD50 was added\ngene: RAD50 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAD50 were set to PMID: 37794136\nPhenotypes for gene: RAD50 were set to Hypogammaglobulinaemia\nReview for gene: RAD50 was set to GREEN\nAdded comment: In addition to the clinical characteristics of growth retardation, microcephaly, fetal growth restriction and skin manifestations patients develop immune deficiency with variable penetrance characterised by hypogammaglobulinaemia, low naïve T cells and low B cells with low or undetectable κ-deleting recombination excision circles similar to the immune deficiency seen in AT and NBS. \nSources: Literature",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2023-10-16T09:32:07.012722+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6AP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:33:39.417109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL23R were changed from Immunodeficiency disease, MONDO:0021094; Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease, MONDO:0021094; Inherited susceptibility to mycobacterial disease, MONDO:0019146, IL23R-related",
"entity_name": "IL23R",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:33:13.842587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL23R were set to 30578351; 35829840",
"entity_name": "IL23R",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:32:53.542893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL23R as Green List (high evidence)",
"entity_name": "IL23R",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:32:53.532781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il23r has been classified as Green List (High Evidence).",
"entity_name": "IL23R",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:32:30.616273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL23R: Added comment: PMID 36763636: Six individuals from four unrelated Iranian kindreds with AR complete IL-23R deficiency presenting MSMD with complete penetrance. Also some patients with susceptibility to CMC with incomplete penetrance.; Changed rating: GREEN; Changed publications: 30578351, 35829840, 36763636; Changed phenotypes: Immunodeficiency disease, MONDO:0021094, Inherited susceptibility to mycobacterial disease, MONDO:0019146, IL23R-related",
"entity_name": "IL23R",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:29:28.180745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF1 were changed from to Inherited susceptibility to mycobacterial disease, MONDO:0019146, IRF1-related",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:29:03.146446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRF1 were set to ",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:28:42.064675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:28:24.419065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF1 as Green List (high evidence)",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:28:24.404072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf1 has been classified as Green List (High Evidence).",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:28:02.149729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRF1: Added comment: PMID 36736301: Two unrelated children with recurrent early-onset life-threatening mycobacterial diseases due to multiple mycobacteria (BCG, M. avium). Homozygous LoF vairiants with extensive supporting functional data.; Changed rating: GREEN; Changed publications: 36736301; Changed phenotypes: Inherited susceptibility to mycobacterial disease, MONDO:0019146, IRF1-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:20:47.730942+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF4 were changed from Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724; Combined immunodeficiency to Combined immunodeficiency, MONDO:0015131, IRF4-related",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:20:33.726031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRF4 were set to 29537367; 29408330",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:20:06.193870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF4 as Green List (high evidence)",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:20:06.179586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf4 has been classified as Green List (High Evidence).",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:19:47.241384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRF4: Added comment: PMID 36662884: Seven individuals with profound CID from six kindreds of diverse ethnic origins (Fig. 1A). All affected individuals suffered with early onset (<1 year of age) recurrent sinopulmonary infections, with the opportunistic pathogen Pneumocystis jirovecii causing pneumonia in most individuals. p.T95R variant found in all patients. Extensive functional data including knockout mouse model. The heterozygous IRF4T95R variant found in multiple unrelated families caused a fully penetrant, severe very early-onset immunodeficiency characterized by greatly enhanced susceptibility to opportunistic pathogens such as P. jirovecii and weakly pathogenic mycobacteria.; Changed rating: GREEN; Changed publications: 29537367, 36662884; Changed phenotypes: Combined immunodeficiency, MONDO:0015131, IRF4-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:18:48.181767+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF4 were changed from Combined immunodeficiency to Combined immunodeficiency, MONDO:0015131, IRF4-related",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:18:09.741092+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRF4 were set to 29408330",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:17:32.578018+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRF4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:17:03.992172+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF4 as Green List (high evidence)",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:17:03.978468+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf4 has been classified as Green List (High Evidence).",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:16:05.289961+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM9 were changed from Ovarian dysgenesis 4, MIM#616185 to Ovarian dysgenesis 4, MIM#616185; Hereditary neoplastic syndrome MONDO:0015356",
"entity_name": "MCM9",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:15:55.016731+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCM9 were set to 25480036; 26771056; 33538981; 33095795",
"entity_name": "MCM9",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:15:37.328742+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCM9: Changed publications: 25480036, 26771056, 33538981, 33095795, 26806154, 34556653, 32841224, 32613604, 37378315; Changed phenotypes: Ovarian dysgenesis 4, MIM# 616185, Hereditary neoplastic syndrome MONDO:0015356",
"entity_name": "MCM9",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:15:11.409322+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: MCM9: Please note emerging link with Lynch-like syndrome: PMIDs 26806154; 34556653; 32841224; 32613604; 37378315",
"entity_name": "MCM9",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:14:30.634464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCM9 were set to 25480036; 26771056; 33538981; 33095795",
"entity_name": "MCM9",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:14:00.520712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM9 were changed from Ovarian dysgenesis 4, MIM# 616185 to Ovarian dysgenesis 4, MIM# 616185; Hereditary neoplastic syndrome MONDO:0015356",
"entity_name": "MCM9",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:11:45.652346+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBTPS2 as ready",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:11:45.633275+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Green List (High Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
}
]
}