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{
"count": 221277,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=684",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=682",
"results": [
{
"created": "2022-11-29T16:42:59.470134+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPSM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chudley-McCullough syndrome MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2022-11-29T16:30:23.752263+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRHL2 as ready",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-11-29T16:30:23.739392+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhl2 has been classified as Red List (Low Evidence).",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-11-29T16:28:17.885411+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRHL2 were changed from Autosomal dominant hearing loss, MIM# 608641 to Ectodermal dysplasia/short stature syndrome MIM#616029; Corneal dystrophy, posterior polymorphous, 4, MIM# 618031; Deafness, autosomal dominant 28, MIM# 608641",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-11-29T16:28:05.288161+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRHL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-11-29T16:27:39.702808+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRHL2 as Red List (low evidence)",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-11-29T16:27:39.689767+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhl2 has been classified as Red List (Low Evidence).",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-11-29T16:27:27.632873+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRHL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029, Corneal dystrophy, posterior polymorphous, 4, MIM# 618031, Deafness, autosomal dominant 28, MIM# 608641; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-11-29T16:21:24.544626+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRHPR were changed from Hyperoxaluria, primary, type II to Hyperoxaluria, primary, type II, MIM# 260000",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2022-11-29T14:43:05.709741+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TPO: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15863666; Phenotypes: Thyroid dyshormonogenesis 2A MIM#274500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2022-11-29T14:37:59.496712+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32684372, PMID: 31884868, PMID: 30470609, PMID: 33882967; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2022-11-29T14:26:33.785384+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TRAPPC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301324; Phenotypes: Spondyloepiphyseal dysplasia tarda MIM#313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-11-29T14:22:49.321547+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301648, PMID: 32877590; Phenotypes: Aicardi-Goutieres syndrome 1 MIM#225750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T14:13:56.660152+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21496629, PMID: 23142638; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:37:15.255770+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5036",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UBE3C as Green List (high evidence)",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:37:15.243962+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5036",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ube3c has been classified as Green List (High Evidence).",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:36:47.960624+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.496",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UBE3C as Green List (high evidence)",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:36:47.947410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.496",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ube3c has been classified as Green List (High Evidence).",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:29:43.054508+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5035",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: UBE3C was added\ngene: UBE3C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE3C were set to PMID: 36401616\nPhenotypes for gene: UBE3C were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#\nReview for gene: UBE3C was set to GREEN\nAdded comment: 3 patients/2 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in UBE3C. The RNA studies in some patients with LoF variants provided evidence for the LoF effect. \nSources: Literature",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:29:29.331305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.495",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: UBE3C was added\ngene: UBE3C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE3C were set to PMID: 36401616\nPhenotypes for gene: UBE3C were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#\nReview for gene: UBE3C was set to GREEN\nAdded comment: 3 patients/2 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in UBE3C. The RNA studies in some patients with LoF variants provided evidence for the LoF effect. \nSources: Literature",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:26:44.985302+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5034",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HECTD4 as Green List (high evidence)",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:26:44.973063+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5034",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hectd4 has been classified as Green List (High Evidence).",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:25:57.271869+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5033",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HECTD4 was added\ngene: HECTD4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HECTD4 were set to PMID: 36401616\nPhenotypes for gene: HECTD4 were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#\nReview for gene: HECTD4 was set to GREEN\nAdded comment: 7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect. \nSources: Literature",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:25:47.532561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.494",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HECTD4 as Green List (high evidence)",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:25:47.519429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.494",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hectd4 has been classified as Green List (High Evidence).",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:25:26.220043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.493",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HECTD4 was added\ngene: HECTD4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HECTD4 were set to PMID: 36401616\nPhenotypes for gene: HECTD4 were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#\nReview for gene: HECTD4 was set to GREEN\nAdded comment: 7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect. \nSources: Literature",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:20:42.579243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.492",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KIF26A as Green List (high evidence)",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:20:42.567249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.492",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kif26a has been classified as Green List (High Evidence).",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:19:05.347030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.491",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KIF26A was added\ngene: KIF26A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF26A were set to PMID: 36228617\nPhenotypes for gene: KIF26A were set to Congenital brain malformations, no OMIM #\nReview for gene: KIF26A was set to GREEN\nAdded comment: 5 unrelated patients with biallelic loss-of-function variants in KIF26A (found through WES), exhibiting a spectrum of congenital brain malformations (schizencephaly, corpus callosum anomalies, polymicrgyria, and ventriculomegaly). Combining mice and human iPSC-derived organoid models, they discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways. \nSources: Literature",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:18:26.255709+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KIF26A as Green List (high evidence)",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:18:26.243084+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kif26a has been classified as Green List (High Evidence).",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:17:56.266924+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.180",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KIF26A was added\ngene: KIF26A was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF26A were set to PMID: 36228617\nPhenotypes for gene: KIF26A were set to Congenital brain malformations, no OMIM #\nReview for gene: KIF26A was set to GREEN\nAdded comment: 5 unrelated patients with biallelic loss-of-function variants in KIF26A (found through WES), exhibiting a spectrum of congenital brain malformations (schizencephaly, corpus callosum anomalies, polymicrgyria, and ventriculomegaly). Combining mice and human iPSC-derived organoid models, they discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways. \nSources: Literature",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:17:50.282830+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5032",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KIF26A as Green List (high evidence)",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:17:50.270927+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5032",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kif26a has been classified as Green List (High Evidence).",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-29T12:17:18.441467+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5031",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KIF26A was added\ngene: KIF26A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF26A were set to PMID: 36228617\nPhenotypes for gene: KIF26A were set to Congenital brain malformations, no OMIM #\nReview for gene: KIF26A was set to GREEN\nAdded comment: 5 unrelated patients with biallelic loss-of-function variants in KIF26A (found through WES), exhibiting a spectrum of congenital brain malformations (schizencephaly, corpus callosum anomalies, polymicrgyria, and ventriculomegaly). Combining mice and human iPSC-derived organoid models, they discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways. \nSources: Literature",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-29T09:37:04.341704+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from public to retired",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-29T09:14:19.234788+11:00",
"panel_name": "Hypertension and Aldosterone disorders",
"panel_id": 190,
"panel_version": "1.12",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel name changed from Renal Hypertension and Disorders of Aldosterone Metabolism to Hypertension and Aldosterone disorders\nPanel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease; Genetic Health Queensland",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-29T09:00:43.057905+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRHPR as ready",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2022-11-29T09:00:43.043661+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhpr has been classified as Green List (High Evidence).",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2022-11-29T09:00:34.601811+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GRHPR.\nTag clinical trial tag was added to gene: GRHPR.\nTag metabolic tag was added to gene: GRHPR.",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2022-11-29T09:00:11.721245+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type II, MIM# 260000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:55:36.387817+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRXCR1 as ready",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:55:36.375087+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grxcr1 has been classified as Green List (High Evidence).",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:55:26.551818+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRXCR1: Changed rating: GREEN",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:55:19.593920+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRXCR1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 25, MIM# 613285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:53:47.451356+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSS as ready",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:53:47.438137+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gss has been classified as Red List (Low Evidence).",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:53:43.787442+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency to Glutathione synthetase deficiency, MIM# 266130; Haemolytic anemia due to glutathione synthetase deficiency 231900",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:53:25.779340+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSS as Red List (low evidence)",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:53:25.768125+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gss has been classified as Red List (Low Evidence).",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:53:07.789216+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GSS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130, Haemolytic anemia due to glutathione synthetase deficiency 231900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:51:11.185186+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUSB as ready",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2022-11-29T08:51:11.173524+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gusb has been classified as Green List (High Evidence).",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2022-11-29T07:16:19.876580+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAMM41 were changed from Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis",
"entity_name": "TAMM41",
"entity_type": "gene"
},
{
"created": "2022-11-29T07:15:42.586952+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAMM41 were changed from inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis",
"entity_name": "TAMM41",
"entity_type": "gene"
},
{
"created": "2022-11-29T07:14:59.907161+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAMM41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAMM41",
"entity_type": "gene"
},
{
"created": "2022-11-29T07:14:33.884579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAMM41 were changed from inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis",
"entity_name": "TAMM41",
"entity_type": "gene"
},
{
"created": "2022-11-29T07:14:05.138979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAMM41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAMM41",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:59:49.779272+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCM2 as ready",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:59:49.762905+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcm2 has been classified as Green List (High Evidence).",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:59:36.070435+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCM2 as Green List (high evidence)",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:59:36.057468+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcm2 has been classified as Green List (High Evidence).",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:59:23.641109+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCM2 was added\ngene: GCM2 was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: GCM2 were set to 27745835; 20190276; 34967908; 35038313\nPhenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883\nReview for gene: GCM2 was set to GREEN\nAdded comment: Well established association. GoF for AD hyperparathyroidism, and LoF for AR hypoparathyroidism.\r\n\r\nVariable age of onset.\r\n\r\nTreatment for hypoPTH: calcium carbonate, calcitriol. HyperPTH: surgery?\r\n\r\nNon-genetic confirmatory tests: calcium, phosphate, parathyroid hormone \nSources: Expert Review",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:54:21.195668+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GUSB.\nTag treatable tag was added to gene: GUSB.\nTag metabolic tag was added to gene: GUSB.",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:54:04.024500+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:50:57.844196+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GYS2 as ready",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:50:57.833257+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gys2 has been classified as Green List (High Evidence).",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:50:42.947811+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GYS2 were changed from Glycogen storage disease 0 to Glycogen storage disease 0, liver (MIM#240600)",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:50:29.413940+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: GYS2.",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:50:13.356535+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:48:50.361234+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GYS2.",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:46:49.997177+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPTAB as ready",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:46:49.985302+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptab has been classified as Red List (Low Evidence).",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:46:41.626874+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNPTAB were changed from Mucolipidosis II to Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:46:23.320075+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNPTAB as Red List (low evidence)",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:46:23.308785+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptab has been classified as Red List (Low Evidence).",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:46:10.867854+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNPTAB: Changed rating: RED",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:45:45.232777+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNPTAB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650, Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:43:40.635777+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNE as ready",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:43:40.630268+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Check age of onset with neurology.",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:43:40.602252+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:43:24.984782+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNE were changed from Inclusion body myopathy to Nonaka myopathy, MIM# 605820",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:43:11.757360+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GNE.\nTag neurological tag was added to gene: GNE.",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:42:51.510458+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNE as Amber List (moderate evidence)",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:42:51.498587+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:42:41.653698+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNE as Red List (low evidence)",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:42:41.641408+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Red List (Low Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:42:28.177489+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nonaka myopathy, MIM# 605820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:38:15.616359+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA1 as ready",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:38:15.603942+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja1 has been classified as Red List (Low Evidence).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:38:11.157118+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:37:59.286364+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:37:41.143744+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GJA1 as Red List (low evidence)",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:37:41.132330+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja1 has been classified as Red List (Low Evidence).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:37:28.636784+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:36:13.360358+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GIPC3 as ready",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:36:13.342740+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gipc3 has been classified as Green List (High Evidence).",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:36:06.610065+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GIPC3 were changed from Hearing loss to Deafness, autosomal recessive 15, MIM# 601869",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:35:50.589313+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GIPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 15, MIM# 601869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:34:08.650722+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
}
]
}