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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1569",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1567",
"results": [
{
"created": "2020-09-29T06:39:09.812033+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL11A2 were set to ",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:38:39.507541+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL11A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:38:15.947107+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581026, 25633957, 16033917; Phenotypes: Deafness, autosomal dominant 13, MIM# 601868, Deafness, autosomal recessive 53, MIM# 609706, Otospondylomegaepiphyseal dysplasia, autosomal dominant, MIM# 184840, Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:32:59.037490+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL11A1 as ready",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:32:59.026358+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col11a1 has been classified as Green List (High Evidence).",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:32:56.511902+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A1 were changed from to Stickler syndrome, type II, MIM# 604841; Marshall syndrome, MIM# 154780",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:32:30.106130+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:32:02.226757+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841, Marshall syndrome, MIM# 154780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:30:25.732837+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COCH as ready",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:30:25.721528+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coch has been classified as Green List (High Evidence).",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:30:14.194112+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COCH: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:30:04.882842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COCH as ready",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:30:04.872500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coch has been classified as Green List (High Evidence).",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:30:01.029231+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:29:58.317368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COCH were changed from to Deafness, autosomal dominant 9, MIM# 601369",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:29:38.938863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COCH were set to ",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:29:20.219092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COCH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:29:02.655250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721; Phenotypes: Deafness, autosomal dominant 9, MIM# 601369; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:28:18.551485+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COCH were changed from to Deafness, autosomal dominant 9, MIM# 601369",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:27:47.337867+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COCH were set to ",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:27:22.482802+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COCH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-29T06:26:58.323233+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721; Phenotypes: Deafness, autosomal dominant 9, MIM# 601369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:21:32.235789+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLRN1 as ready",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:21:32.222920+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clrn1 has been classified as Green List (High Evidence).",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:21:28.752157+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLRN1 were changed from ?Usher syndrome, type 3A, 276902Retinitis pigmentosa 61, 614180 to Usher syndrome, type 3A, 276902; Retinitis pigmentosa 61, 614180",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:21:13.573694+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLRN1 were set to ",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:20:59.421460+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11524702, 24596593, 22135276, 21675857, 19753315, 27110679, 26943149, 22787034; Phenotypes: Usher syndrome, type 3A, MIM# 276902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:20:10.436602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLRN1 as ready",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:20:10.426444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clrn1 has been classified as Green List (High Evidence).",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:20:03.501728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLRN1 were changed from to Usher syndrome, type 3A, MIM# 276902",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:19:39.015809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLRN1 were set to ",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:19:09.660670+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLRN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:18:53.968270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11524702, 24596593, 22135276, 21675857, 19753315, 27110679, 26943149, 22787034; Phenotypes: Usher syndrome, type 3A, MIM# 276902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:18:45.124334+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLRN1 as ready",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:18:45.104662+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clrn1 has been classified as Green List (High Evidence).",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:18:36.576915+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLRN1 were changed from to Usher syndrome, type 3A, MIM# 276902",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:18:14.537813+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLRN1 were set to 11524702; 24596593; 22135276; 21675857; 19753315; 27110679; 26943149; 22787034",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:18:00.877385+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLRN1 were set to ",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:17:30.835894+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLRN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:17:01.126376+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11524702, 24596593, 22135276, 21675857, 19753315, 27110679, 26943149, 22787034; Phenotypes: Usher syndrome, type 3A, MIM# 276902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:14:05.911600+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLPP as ready",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:14:05.898528+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpp has been classified as Green List (High Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:14:02.626845+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPP were changed from Perrault syndrome to Perrault syndrome 3, MIM# 614129",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:13:50.531307+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLPP were set to ",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:13:40.713701+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLPP as Green List (high evidence)",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:13:40.700480+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpp has been classified as Green List (High Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:13:28.535835+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:13:22.215546+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLPP were set to 23541340; 27087618; 27899912; 25254289",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:12:56.095190+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLPP: Changed publications: 23541340, 27087618, 27899912, 25254289, 23851121",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:12:39.832284+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals. More than 5 unrelated families reported.; to: Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals. More than 5 unrelated families (11 probands) reported, mouse model.",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:09:19.938105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLPP as ready",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:09:19.926878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpp has been classified as Green List (High Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:09:13.850295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:08:56.870568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLPP were set to ",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:08:38.505554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:08:20.959482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:07:40.872550+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLPP as ready",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:07:40.854994+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpp has been classified as Green List (High Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:07:37.411280+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:07:12.326699+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLPP were set to ",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:06:46.294324+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:06:20.991605+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:03:14.747371+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIB2 as ready",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:03:14.717144+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cib2 has been classified as Green List (High Evidence).",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T20:03:10.862292+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIB2 were changed from to Deafness, autosomal recessive 48, MIM# 609439",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:20:02.279569+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIB2 as ready",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:20:02.263608+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cib2 has been classified as Green List (High Evidence).",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:19:55.853536+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIB2 as Green List (high evidence)",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:19:55.844493+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cib2 has been classified as Green List (High Evidence).",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:19:45.475332+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CIB2 was added\ngene: CIB2 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CIB2 were set to 23023331; 23023331; 26173970; 26473954; 27344577; 26226137; 26445815\nPhenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439\nReview for gene: CIB2 was set to GREEN\nAdded comment: DEFINITIVE association with isolated deafness, REFUTED association with Usher syndrome by ClinGen. Multiple families, mouse and zebrafish animal models, all families but one with isolated deafness. \nSources: Expert list",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:17:58.484246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN14 as ready",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:17:58.468880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn14 has been classified as Green List (High Evidence).",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:17:52.617013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN14 were changed from to Deafness, autosomal recessive 29, MIM# 614035",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:17:35.663152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLDN14 were set to ",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:17:12.813996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLDN14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:16:50.563085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLDN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 11163249, 20811388, 22246673, 23235333, 27870113, 27838790, 12913076; Phenotypes: Deafness, autosomal recessive 29, MIM# 614035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:16:21.824783+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN14 as ready",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:16:21.814221+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn14 has been classified as Green List (High Evidence).",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:15:54.180323+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN14 were changed from to Deafness, autosomal recessive 29, MIM# 614035",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:15:30.526150+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLDN14 were set to ",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:15:01.854702+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLDN14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:14:37.456816+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLDN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 11163249, 20811388, 22246673, 23235333, 27870113, 27838790, 12913076; Phenotypes: Deafness, autosomal recessive 29, MIM# 614035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:11:39.379663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIB2 as ready",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:11:39.371568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cib2 has been classified as Green List (High Evidence).",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:11:31.776211+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIB2 were changed from to Deafness, autosomal recessive 48, MIM# 609439",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:11:12.179176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CIB2 were set to ",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:10:53.980317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:09:18.558556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Deafness, autosomal recessive 48, MIM# 609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:07:37.066081+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Usher syndrome, type IJ 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:06:41.452676+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIB2 as ready",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:06:41.440144+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cib2 has been classified as Red List (Low Evidence).",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:06:36.965608+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CIB2 were set to ",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:06:26.248500+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIB2 as Red List (low evidence)",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:06:26.237477+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cib2 has been classified as Red List (Low Evidence).",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:06:17.258660+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: CIB2.",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:06:09.233650+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Usher syndrome, type IJ 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:05:36.087854+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CIB2 were set to ",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:04:53.122922+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T19:04:24.888606+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Deafness, autosomal recessive 48, MIM# 609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:58:43.053612+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
}
]
}