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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=675",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=673",
"results": [
{
"created": "2022-12-07T14:01:41.693896+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kbtbd13 has been classified as Red List (Low Evidence).",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:00:55.295154+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KBTBD13 were changed from Nemaline myopathy to Nemaline myopathy 6, autosomal dominant, MIM# 609273; Hereditary motor neuropathy late-onset; limb girdle muscular dystrophy",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:00:42.609403+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KBTBD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:00:32.052857+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KBTBD13 as Red List (low evidence)",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:00:32.040942+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kbtbd13 has been classified as Red List (Low Evidence).",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2022-12-07T14:00:21.012688+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KBTBD13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 6, autosomal dominant, MIM# 609273, Hereditary motor neuropathy late-onset, limb girdle muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:57:19.491411+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNT1 as ready",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:57:19.474414+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnt1 has been classified as Red List (Low Evidence).",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:57:05.927956+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNT1 as Red List (low evidence)",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:57:05.915854+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnt1 has been classified as Red List (Low Evidence).",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:56:52.797776+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 14, MIM# 614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:54:29.963848+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:54:20.475596+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD7 as ready",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:54:20.454538+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd7 has been classified as Red List (Low Evidence).",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:54:15.600963+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD7 were changed from Epilepsy, progressive myoclonic to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:53:57.334619+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:53:13.401148+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCTD7 as Red List (low evidence)",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:53:13.389439+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd7 has been classified as Red List (Low Evidence).",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:53:02.628606+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:51:35.915533+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGSNAT as ready",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:51:35.903084+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgsnat has been classified as Red List (Low Evidence).",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:51:32.169264+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis IIIC to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:50:25.313742+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HGSNAT as Red List (low evidence)",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:50:25.300719+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgsnat has been classified as Red List (Low Evidence).",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:50:10.406873+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HGSNAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:47:56.605019+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGF as ready",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:47:56.593505+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgf has been classified as Green List (High Evidence).",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:47:51.980217+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGF were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 39, MIM# 608265",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:47:38.981415+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: HGF.\nTag founder tag was added to gene: HGF.",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:47:26.433443+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 39, MIM# 608265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:45:04.306445+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HGD.\nTag metabolic tag was added to gene: HGD.",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:44:48.876665+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HGD: Changed rating: AMBER",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:44:41.178259+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HGD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alkaptonuria MIM#203500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:11:49.401424+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXB as ready",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:11:49.388474+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexb has been classified as Red List (Low Evidence).",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:11:44.447133+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:11:32.108586+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEXB as Red List (low evidence)",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:11:32.094138+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexb has been classified as Red List (Low Evidence).",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:11:20.222453+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEXB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:09:49.493902+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXA as ready",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:09:49.481170+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexa has been classified as Red List (Low Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:09:40.185017+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXA were changed from Tay-Sachs disease to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:09:25.661872+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEXA as Red List (low evidence)",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:09:25.644376+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexa has been classified as Red List (Low Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:09:12.730213+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEXA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GM2-gangliosidosis, several forms 272800, Tay-Sachs disease 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:07:45.373998+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC8 as ready",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:07:45.359881+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac8 has been classified as Red List (Low Evidence).",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:07:40.058450+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC8 were changed from Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle to Cornelia de Lange syndrome 5, MIM# 300882",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:07:21.122525+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HDAC8 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:07:11.063298+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC8 as Red List (low evidence)",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:07:11.051341+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac8 has been classified as Red List (Low Evidence).",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:07:00.137001+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HDAC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:05:30.587455+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJC2 as ready",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:05:30.572740+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjc2 has been classified as Red List (Low Evidence).",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:05:26.960885+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJC2 were changed from Pelizaeus-Merzbacher-like disease to Spastic paraplegia 44, autosomal recessive MIM#613206; Leukodystrophy, hypomyelinating, 2 MIM#608804; Lymphatic malformation 3 MIM#613480",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:05:14.264929+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:05:04.615138+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GJC2 as Red List (low evidence)",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:05:04.602162+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjc2 has been classified as Red List (Low Evidence).",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:04:40.980604+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804, Lymphatic malformation 3 MIM#613480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:01:06.215748+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJB1 as ready",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:01:06.189671+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb1 has been classified as Red List (Low Evidence).",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:01:02.344291+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:00:48.373416+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:00:37.074654+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GJB1 as Red List (low evidence)",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:00:37.061464+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb1 has been classified as Red List (Low Evidence).",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T13:00:23.799527+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2022-12-07T12:52:41.780377+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GIF as ready",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-12-07T12:52:41.752430+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gif has been classified as Green List (High Evidence).",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-12-07T12:52:38.350270+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GIF were changed from Intrinsic factor deficiency, MIM#\t261000; Intrinsic factor deficiency # 261000 to Intrinsic factor deficiency, MIM#\t261000",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-12-07T12:52:25.878292+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GIF were set to ",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-12-07T12:52:13.733511+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: GIF.\nTag treatable tag was added to gene: GIF.\nTag haematological tag was added to gene: GIF.",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-12-07T12:51:53.531993+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intrinsic factor deficiency MIM#261000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-12-07T09:57:49.360762+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHUK as ready",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2022-12-07T09:57:49.348219+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chuk has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2022-12-07T09:57:44.215798+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHUK as Amber List (moderate evidence)",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2022-12-07T09:57:44.199028+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chuk has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2022-12-07T09:57:08.259702+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHUK was added\ngene: CHUK was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHUK were set to 34533979\nPhenotypes for gene: CHUK were set to Combined immunodeficiency, MONDO:0015131, CHUK-related\nReview for gene: CHUK was set to AMBER\nAdded comment: PMID 34533979: single individual reported with homozygous missense variant in this gene and recurrent infections, skeletal abnormalities, absent secondary lymphoid structures, reduced B cell numbers, hypogammaglobulinemia, and lymphocytic infiltration of intestine. Supportive functional data. \nSources: Literature",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2022-12-07T09:55:23.105289+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHUK were changed from Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome to Combined immunodeficiency, MONDO:0015131, CHUK-related; Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2022-12-07T09:54:03.274454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHUK were set to 25691407; 20961246; 10195895; 10195896; 29523099; 28513979",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2022-12-07T09:53:38.288793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHUK: Changed phenotypes: Combined immunodeficiency, MONDO:0015131, CHUK-related, Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339, Cocoon syndrome, MIM# 613630, AEC-like syndrome",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2022-12-07T09:52:46.476475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHUK: Added comment: PMID 34533979: single individual reported with homozygous missense variant in this gene and recurrent infections, skeletal abnormalities, absent secondary lymphoid structures, reduced B cell numbers, hypogammaglobulinemia, and lymphocytic infiltration of intestine. Supportive functional data.; Changed publications: 25691407, 20961246, 10195895, 10195896, 29523099, 28513979, 34533979",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:41:45.608754+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRF7 were set to 25814066; 15800576",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:40:55.977918+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF7 as Green List (high evidence)",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:40:55.966024+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf7 has been classified as Green List (High Evidence).",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:40:23.818891+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRF7: Added comment: Additional individuals reported PMIDs 35986347, 35670811: total of 7; Changed rating: GREEN; Changed publications: 25814066, 15800576, 35986347, 35670811",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:05:42.708426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRF7 were set to 25814066; 15800576",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:05:16.770686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF7 as Green List (high evidence)",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:05:16.757812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf7 has been classified as Green List (High Evidence).",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:04:33.509082+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF7 as Green List (high evidence)",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:04:33.496246+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf7 has been classified as Green List (High Evidence).",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:04:22.121361+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF7 as Green List (high evidence)",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:04:22.084031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf7 has been classified as Green List (High Evidence).",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:03:38.982353+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRF7: Changed rating: GREEN",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:03:31.579861+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRF7: Added comment: Additional individuals reported PMIDs 35986347, 35670811: total of 7; Changed rating: GREEN; Changed publications: 25814066, 15800576, 35986347, 35670811",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T21:02:58.253956+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRF7: Added comment: Additional individuals reported PMIDs 35986347, 35670811: total of 7; Changed publications: 25814066, 15800576, 35986347, 35670811",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2022-12-06T20:47:14.997946+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC16A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-12-06T20:46:55.685678+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: SLC16A1.",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-12-06T20:46:45.638876+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Monocarboxylate transporter 1 deficiency, MIM# 616095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-12-06T20:45:28.924096+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A5 as ready",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2022-12-06T20:45:28.906245+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
}
]
}