{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1576","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1574","results":[{"created":"2020-09-25T09:52:08.386056+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4568","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RPS20 was added\ngene: RPS20 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS20 were set to 32790018\nPhenotypes for gene: RPS20 were set to Diamond Blackfan anaemia\nMode of pathogenicity for gene: RPS20 was set to Other\nReview for gene: RPS20 was set to AMBER\nAdded comment: Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype. \nSources: Literature","entity_name":"RPS20","entity_type":"gene"},{"created":"2020-09-25T09:50:17.049848+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RPS20 as ready","entity_name":"RPS20","entity_type":"gene"},{"created":"2020-09-25T09:50:17.033467+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rps20 has been classified as Amber List (Moderate Evidence).","entity_name":"RPS20","entity_type":"gene"},{"created":"2020-09-25T09:48:56.511445+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RPS20 as Amber List (moderate evidence)","entity_name":"RPS20","entity_type":"gene"},{"created":"2020-09-25T09:48:56.503001+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rps20 has been classified as Amber List (Moderate Evidence).","entity_name":"RPS20","entity_type":"gene"},{"created":"2020-09-25T09:48:00.256381+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RPS20 was added\ngene: RPS20 was added to Diamond Blackfan anaemia. Sources: Literature\nMode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS20 were set to 32790018\nPhenotypes for gene: RPS20 were set to Diamond Blackfan anaemia\nMode of pathogenicity for gene: RPS20 was set to Other\nReview for gene: RPS20 was set to AMBER\nAdded comment: Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype. \nSources: Literature","entity_name":"RPS20","entity_type":"gene"},{"created":"2020-09-25T09:19:08.551866+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.398","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: LMX1A were set to 29754270; 29971487","entity_name":"LMX1A","entity_type":"gene"},{"created":"2020-09-25T09:18:37.599661+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.397","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LMX1A as Green List (high evidence)","entity_name":"LMX1A","entity_type":"gene"},{"created":"2020-09-25T09:18:37.590468+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.397","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lmx1a has been classified as Green List (High Evidence).","entity_name":"LMX1A","entity_type":"gene"},{"created":"2020-09-25T09:15:44.460230+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.396","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: LMX1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29754270, 32840933, 29971487; Phenotypes: Deafness, autosomal dominant 7 MIM#601412, non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LMX1A","entity_type":"gene"},{"created":"2020-09-24T21:42:40.590881+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: ACTG1 was changed from  to Other","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-09-24T21:42:16.717744+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTG1 as ready","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-09-24T21:42:16.706727+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actg1 has been classified as Green List (High Evidence).","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-09-24T21:42:13.558380+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTG1 were changed from  to Deafness, autosomal dominant 20/26, MIM# 604717","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-09-24T21:41:44.894739+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACTG1 were set to ","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-09-24T21:41:14.515281+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-09-24T21:40:49.975322+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 13680526, 14684684, 16773128, 19477959, 19497859; Phenotypes: Deafness, autosomal dominant 20/26, MIM# 604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-09-24T21:31:56.083366+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4567","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABHD12 were set to ","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-09-24T21:31:35.768122+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4566","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20797687, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-09-24T21:30:06.916987+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABHD12 as ready","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-09-24T21:30:06.905528+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abhd12 has been classified as Green List (High Evidence).","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-09-24T21:30:04.308327+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABHD12 were changed from  to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-09-24T21:29:41.004848+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABHD12 were set to ","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-09-24T21:29:14.595887+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABHD12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-09-24T21:28:45.150604+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20797687, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-09-24T21:24:48.677730+10:00","panel_name":"Alagille syndrome","panel_id":36,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2020-09-24T18:14:07.929001+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4566","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPAST as ready","entity_name":"SPAST","entity_type":"gene"},{"created":"2020-09-24T18:14:07.917713+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4566","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spast has been classified as Green List (High Evidence).","entity_name":"SPAST","entity_type":"gene"},{"created":"2020-09-24T18:09:54.048115+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4566","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPAST were changed from  to Spastic paraplegia 4, autosomal dominant (MIM#182601), AD","entity_name":"SPAST","entity_type":"gene"},{"created":"2020-09-24T18:09:38.999875+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4565","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPAST were set to ","entity_name":"SPAST","entity_type":"gene"},{"created":"2020-09-24T18:09:21.976266+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4564","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPAST was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPAST","entity_type":"gene"},{"created":"2020-09-24T18:07:27.625575+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4563","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRRAP as ready","entity_name":"TRRAP","entity_type":"gene"},{"created":"2020-09-24T18:07:27.615011+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4563","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trrap has been classified as Green List (High Evidence).","entity_name":"TRRAP","entity_type":"gene"},{"created":"2020-09-24T18:07:18.245588+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4563","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRRAP were set to ","entity_name":"TRRAP","entity_type":"gene"},{"created":"2020-09-24T18:07:02.477387+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4562","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRRAP were changed from  to Developmental delay with or without dysmorphic facies and autism (MIM#618454)","entity_name":"TRRAP","entity_type":"gene"},{"created":"2020-09-24T18:06:49.475268+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4561","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRRAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRRAP","entity_type":"gene"},{"created":"2020-09-24T18:01:44.490075+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFV2 as ready","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2020-09-24T18:01:44.471059+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufv2 has been classified as Green List (High Evidence).","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2020-09-24T18:01:39.802898+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: NDUFV2.\nTag founder tag was added to gene: NDUFV2.","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2020-09-24T18:01:26.299608+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFV2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2020-09-24T18:01:05.834825+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.503","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFV2 were changed from  to Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2020-09-24T18:00:42.765052+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFV2 were set to ","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2020-09-24T18:00:25.132845+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2020-09-24T18:00:00.630282+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.501","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2020-09-24T16:37:55.915239+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4560","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827496, 31231791; Phenotypes: Developmental delay with or without dysmorphic facies and autism (MIM#618454), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TRRAP","entity_type":"gene"},{"created":"2020-09-24T16:36:46.128160+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4560","user_name":"Chern Lim","item_type":"entity","text":"Deleted their review","entity_name":"TRRAP","entity_type":"gene"},{"created":"2020-09-24T15:37:44.969000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4560","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 30476002, 30006150; Phenotypes: Spastic paraplegia 4, autosomal dominant (MIM#182601), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"SPAST","entity_type":"gene"},{"created":"2020-09-24T15:28:57.310559+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4560","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827496; Phenotypes: Developmental delay with or without dysmorphic facies and autism (MIM#618454), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TRRAP","entity_type":"gene"},{"created":"2020-09-24T13:23:09.138729+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BSCL2 as ready","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-09-24T13:23:09.130319+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bscl2 has been classified as Green List (High Evidence).","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-09-24T13:23:05.103811+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome; Berardinelli-Seip lipodystrophy to Berardinelli-Seip lipodystrophy; Lipodystrophy, congenital generalized, type 2, MIM# 269700","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-09-24T13:22:48.387684+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BSCL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-09-24T13:21:18.381887+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BSCL2 as Green List (high evidence)","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-09-24T13:21:18.371784+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bscl2 has been classified as Green List (High Evidence).","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-09-24T13:21:07.246157+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-09-24T13:10:33.085556+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PALB2 as ready","entity_name":"PALB2","entity_type":"gene"},{"created":"2020-09-24T13:10:33.074830+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: palb2 has been classified as Green List (High Evidence).","entity_name":"PALB2","entity_type":"gene"},{"created":"2020-09-24T13:10:28.855984+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PALB2 were changed from Breast cancer to Fanconi anemia, complementation group N, MIM# 610832","entity_name":"PALB2","entity_type":"gene"},{"created":"2020-09-24T13:10:11.501433+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PALB2 were set to ","entity_name":"PALB2","entity_type":"gene"},{"created":"2020-09-24T13:10:01.519172+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PALB2","entity_type":"gene"},{"created":"2020-09-24T13:09:52.774926+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PALB2 as Green List (high evidence)","entity_name":"PALB2","entity_type":"gene"},{"created":"2020-09-24T13:09:52.764968+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: palb2 has been classified as Green List (High Evidence).","entity_name":"PALB2","entity_type":"gene"},{"created":"2020-09-24T13:07:40.424004+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: P2RY12 as ready","entity_name":"P2RY12","entity_type":"gene"},{"created":"2020-09-24T13:07:40.415107+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p2ry12 has been classified as Green List (High Evidence).","entity_name":"P2RY12","entity_type":"gene"},{"created":"2020-09-24T13:07:34.701655+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: P2RY12 as Green List (high evidence)","entity_name":"P2RY12","entity_type":"gene"},{"created":"2020-09-24T13:07:34.691256+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p2ry12 has been classified as Green List (High Evidence).","entity_name":"P2RY12","entity_type":"gene"},{"created":"2020-09-24T13:06:47.953318+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDX1 as ready","entity_name":"PDX1","entity_type":"gene"},{"created":"2020-09-24T13:06:47.942621+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdx1 has been classified as Green List (High Evidence).","entity_name":"PDX1","entity_type":"gene"},{"created":"2020-09-24T13:06:41.559350+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDX1 as Green List (high evidence)","entity_name":"PDX1","entity_type":"gene"},{"created":"2020-09-24T13:06:41.548365+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdx1 has been classified as Green List (High Evidence).","entity_name":"PDX1","entity_type":"gene"},{"created":"2020-09-24T13:06:01.878733+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3CD as ready","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2020-09-24T13:06:01.864007+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3cd has been classified as Green List (High Evidence).","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2020-09-24T13:05:56.811508+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIK3CD as Green List (high evidence)","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2020-09-24T13:05:56.800990+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3cd has been classified as Green List (High Evidence).","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2020-09-24T13:05:28.675578+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPRC as ready","entity_name":"PTPRC","entity_type":"gene"},{"created":"2020-09-24T13:05:28.664974+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptprc has been classified as Green List (High Evidence).","entity_name":"PTPRC","entity_type":"gene"},{"created":"2020-09-24T13:05:25.344615+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTPRC as Green List (high evidence)","entity_name":"PTPRC","entity_type":"gene"},{"created":"2020-09-24T13:05:25.334018+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptprc has been classified as Green List (High Evidence).","entity_name":"PTPRC","entity_type":"gene"},{"created":"2020-09-24T13:04:05.313001+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RYR1 as ready","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-09-24T13:04:05.300803+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ryr1 has been classified as Green List (High Evidence).","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-09-24T13:04:01.354383+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RYR1 were changed from Centronuclear myopathy; Congenital fiber type disproportion; Multiminicore disease; Central core disease; Malignant hyperthermia to Malignant hyperthermia, multiminicore disease MIM#180901","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-09-24T13:03:36.775859+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RYR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-09-24T13:03:27.261272+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RYR1 as Green List (high evidence)","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-09-24T13:03:27.250264+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ryr1 has been classified as Green List (High Evidence).","entity_name":"RYR1","entity_type":"gene"},{"created":"2020-09-24T13:02:48.391110+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCNN1B as ready","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2020-09-24T13:02:48.379347+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnn1b has been classified as Green List (High Evidence).","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2020-09-24T13:02:45.255536+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCNN1B were changed from Pseudohypoaldosteronism; Liddle syndrome to Pseudohypoaldosteronism, type I MIM# 264350","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2020-09-24T13:02:41.409295+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.32","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17200671; Phenotypes: Fanconi anemia, complementation group N MIM#  610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PALB2","entity_type":"gene"},{"created":"2020-09-24T13:02:28.086418+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCNN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2020-09-24T13:02:18.729288+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCNN1B as Green List (high evidence)","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2020-09-24T13:02:18.720927+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnn1b has been classified as Green List (High Evidence).","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2020-09-24T13:01:40.396502+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERPINA1 as ready","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2020-09-24T13:01:40.386376+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpina1 has been classified as Green List (High Evidence).","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2020-09-24T13:01:36.969933+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SERPINA1 were changed from Antitrypsin alpha 1 deficiency to Antitrypsin alpha 1 deficiency; Emphysema due to AAT deficiency, OMIM #107400","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2020-09-24T13:01:20.560288+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SERPINA1 as Green List (high evidence)","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2020-09-24T13:01:20.551774+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpina1 has been classified as Green List (High Evidence).","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2020-09-24T13:00:47.934201+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SFTPC as ready","entity_name":"SFTPC","entity_type":"gene"},{"created":"2020-09-24T13:00:47.921433+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpc has been classified as Green List (High Evidence).","entity_name":"SFTPC","entity_type":"gene"},{"created":"2020-09-24T13:00:44.115737+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SFTPC were changed from Interstitial lung disease to Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620; Interstitial lung disease","entity_name":"SFTPC","entity_type":"gene"},{"created":"2020-09-24T13:00:27.599486+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SFTPC as Green List (high evidence)","entity_name":"SFTPC","entity_type":"gene"}]}