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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1573",
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"results": [
{
"created": "2020-09-25T20:08:37.906716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1B1 as ready",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:08:37.897816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:08:30.766663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V1B1 were changed from to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:08:14.468923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP6V1B1 were set to ",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:07:58.380263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6V1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:07:37.310969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916796, 12414817, 16611712, 18798332; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:06:03.745315+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1B1 as ready",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:06:03.734962+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:05:58.397810+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V1B1 were changed from to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:05:41.557556+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP6V1B1 were set to ",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:05:18.651190+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6V1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:04:48.036362+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916796, 12414817, 16611712, 18798332; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:02:42.321211+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2B2 were changed from progressive sensorineural deafness to Dominant progressive sensorineural deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:02:32.185579+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30535804, 15829536; Phenotypes: Dominant progressive sensorineural deafness, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386; Mode of inheritance: None",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:00:58.334842+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30535804, 15829536; Phenotypes: Dominant deafness, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:56:38.636781+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALMS1 as ready",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:56:38.623490+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alms1 has been classified as Green List (High Evidence).",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:56:35.120895+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM# 203800",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:56:13.152166+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALMS1 were set to ",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:55:44.863295+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:55:17.154273+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11941369, 17594715; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:53:27.691187+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRV1 as ready",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:53:27.680908+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrv1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:53:24.754957+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRV1 were changed from to Usher syndrome, type 2C, MIM# 605472",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:52:56.368654+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADGRV1 were set to ",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:52:35.074565+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADGRV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-09-25T19:52:05.740054+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22147658, 25572244, 14740321; Phenotypes: Usher syndrome, type 2C, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-09-25T17:34:15.956954+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRIT1 as ready",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-25T17:34:15.952507+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree, potentially actionable in childhood.",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-25T17:34:15.917572+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krit1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-25T17:34:00.167529+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRIT1 as Amber List (moderate evidence)",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-25T17:34:00.144170+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krit1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-25T17:32:51.308041+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH7 as ready",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-09-25T17:32:51.299523+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh7 has been classified as Green List (High Evidence).",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-09-25T17:32:48.321185+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction; Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated; Congenital fiber type disproportion; Myopathy, myosin storage; Laing distal myopathy; Scapuloperoneal syndrome, myopathic type to Myopathy and cardiomyopathy MIM#160760",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-09-25T17:32:30.323855+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYH7 as Green List (high evidence)",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-09-25T17:32:30.310349+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh7 has been classified as Green List (High Evidence).",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:37:41.146623+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTRK1 as ready",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:37:41.137770+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntrk1 has been classified as Green List (High Evidence).",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:37:37.963824+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NTRK1 were changed from Medullary thyroid carcinoma, familial; Congenital insensitivity to pain with anhidrosis to Congenital insensitivity to pain with anhidrosis MIM#256800",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:37:21.018422+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NTRK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:37:09.846593+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NTRK1 as Green List (high evidence)",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:37:09.836495+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntrk1 has been classified as Green List (High Evidence).",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:35:52.717028+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DUOXA2: Changed phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:35:36.315375+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DUOXA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:33:23.585678+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCX as ready",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:33:23.576267+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcx has been classified as Green List (High Evidence).",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:33:20.379020+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCX were changed from Lennox-Gastaut syndrome; Lissencephaly, X-linked to Lissencephaly, X-linked, MIM# 300067",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:33:03.597467+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCX as Green List (high evidence)",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:33:03.586476+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcx has been classified as Green List (High Evidence).",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:32:51.670749+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked, MIM# 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:30:59.446767+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL1A1 as ready",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:30:59.436322+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col1a1 has been classified as Green List (High Evidence).",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:30:56.310632+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL1A1 were changed from Caffey disease; Osteogenesis imperfecta, type I to Osteogenesis imperfecta, type I",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:30:39.540740+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL1A1 as Green List (high evidence)",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:30:39.532926+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col1a1 has been classified as Green List (High Evidence).",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:30:28.736892+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:29:04.866729+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN7 as ready",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:29:04.856951+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Green List (High Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:29:01.629269+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN7 were changed from Osteopetrosis to Osteopetrosis, autosomal recessive 4, MIM# 611490",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:28:48.574788+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:28:37.736774+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN7 as Green List (high evidence)",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:28:37.728502+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Green List (High Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:28:27.789021+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:26:24.315690+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN1 as ready",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:26:24.302116+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn1 has been classified as Red List (Low Evidence).",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:26:20.444498+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN1 were changed from Myotonia congenita to Myotonia congenita, dominant, MIM# 160800; Myotonia congenita, recessive, MIM# 255700",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:26:07.738565+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:25:54.325107+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonia congenita, dominant, MIM# 160800, Myotonia congenita, recessive, MIM# 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:20:39.998836+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3D as ready",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:20:39.988389+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3d has been classified as Green List (High Evidence).",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:20:34.548883+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD3D as Green List (high evidence)",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:20:34.537750+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3d has been classified as Green List (High Evidence).",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:20:23.796188+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD3D was added\ngene: CD3D was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD3D were set to Immunodeficiency 19, MIM#\t615617\nReview for gene: CD3D was set to GREEN\nAdded comment: SCID phenotype, treatable by BMT. Included in NC Nexus panel. \nSources: Expert list",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:18:21.203014+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAV3 as ready",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:18:21.171922+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav3 has been classified as Green List (High Evidence).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:18:01.714641+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAV3 were changed from Cardiomyopathy, familial hypertrophic; Rippling muscle disease; Long QT syndrome-9; Caveolinopathy; Muscular dystrophy, limb-girdle, type IC, to Muscular dystrophy, limb-girdle, type IC; Caveolinopathy",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:17:36.757594+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAV3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:17:17.090003+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAV3 as Green List (high evidence)",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:17:17.079686+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav3 has been classified as Green List (High Evidence).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:17:06.294035+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAV3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, type IC, Caveolinopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:14:07.119185+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD11 as ready",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:14:07.107636+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card11 has been classified as Green List (High Evidence).",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:14:01.083772+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CARD11 as Green List (high evidence)",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:14:01.075371+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card11 has been classified as Green List (High Evidence).",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2020-09-25T16:13:51.261644+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARD11 was added\ngene: CARD11 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CARD11 were set to 23561803; 12818158; 23374270; 28628108\nPhenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM#\t615206\nReview for gene: CARD11 was set to GREEN\nAdded comment: At least two individuals with bi-allelic, and four with mono-allelic variants, animal model. Included in NC NEXUS panel. \nSources: Expert list",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2020-09-25T15:46:24.572036+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.47",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: KRIT1 was added\ngene: KRIT1 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926\nPhenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860\nReview for gene: KRIT1 was set to AMBER\nAdded comment: Not evaluated by Babyseq, included in NC NEXUS list. Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Complications of rupture/bleeding can cause seizures, stroke, neurological deficits. Screening and management is available. Rare but can be paediatric onset: see PMID's. \nSources: Expert list",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-09-25T15:36:10.839104+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.47",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy and cardiomyopathy MIM#160760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-09-25T15:32:27.682025+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.47",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2020-09-25T15:13:34.869891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C1orf194 were changed from Charcot-Marie-Tooth to Charcot-Marie-Tooth disease, intermediate or demyelinating",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-09-25T15:13:17.125268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1orf194 were set to PMID: 31199454",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:39:17.537734+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALB as ready",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:39:17.528655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alb has been classified as Green List (High Evidence).",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:39:09.749126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALB were changed from to Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999; Analbuminemia, MIM# 616000",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:38:50.995275+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALB were set to ",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:38:32.705833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:38:13.313603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29163366, 24646103, 8064810, 27834068, 32635414; Phenotypes: Familial dysalbuminaemic hyperthyroxinaemia, [Dysalbuminemic hyperthyroxinemia], 615999, Analbuminemia, MIM# 616000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:35:01.849235+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALB as ready",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:35:01.830077+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alb has been classified as Green List (High Evidence).",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:34:53.222355+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALB were set to 29163366; 24646103; 8064810; 27834068",
"entity_name": "ALB",
"entity_type": "gene"
}
]
}