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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1576",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1574",
"results": [
{
"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"
},
{
"created": "2020-09-24T13:00:27.590963+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.27",
"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": "2020-09-24T12:59:42.633992+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCD as ready",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:59:42.622032+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgcd has been classified as Green List (High Evidence).",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:59:39.245025+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated; Muscular dystrophy, limb-girdle, type 2F to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:59:21.023274+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGCD as Green List (high evidence)",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:59:21.012998+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgcd has been classified as Green List (High Evidence).",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:58:22.751988+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A19 as ready",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:58:22.741107+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:58:19.321481+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A19 were changed from Hartnup disorder to Hartnup disorder, MIM # 234500",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:58:05.861444+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A19 as Green List (high evidence)",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:58:05.850479+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:55:16.667584+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYGM as ready",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:55:16.658057+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygm has been classified as Green List (High Evidence).",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:55:12.177800+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PYGM as Green List (high evidence)",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:55:12.168782+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygm has been classified as Green List (High Evidence).",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:54:39.666344+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:P2RY1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-24T12:51:52.469927+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: P2RY12 was added\ngene: P2RY12 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: P2RY12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8 MIM# 609821\nAdded comment: Characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list. \r\nSources: Expert list \nSources: Expert list",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:49:23.406678+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: P2RY1 was added\ngene: P2RY1 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: P2RY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: P2RY1 were set to Bleeding disorder, platelet-type, 8, MIM# 609821\nReview for gene: P2RY1 was set to GREEN\nAdded comment: Characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list. \nSources: Expert list",
"entity_name": "P2RY1",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:46:27.918130+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: PDX1 was added\ngene: PDX1 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370\nReview for gene: PDX1 was set to GREEN\nAdded comment: Neonatal onset IDDM, treatable. Not evaluated by Babyseq, included in NC NEXUS. \nSources: Expert list",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:37:09.853257+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: PIK3CD was added\ngene: PIK3CD was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM # 615513\nReview for gene: PIK3CD was set to GREEN\nAdded comment: Primary immunodeficiency, characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas . \r\nNot reviewed by Babyseq, included in NCNEXUS list. Treatable \nSources: Expert list",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-09-24T12:31:56.982628+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: PTPRC was added\ngene: PTPRC was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 151460\nReview for gene: PTPRC was set to GREEN\nAdded comment: Not reviewed by Babyseq, paediatric onset disease that is actionable with BMT (included in NCNEXUS list). \nSources: Expert list",
"entity_name": "PTPRC",
"entity_type": "gene"
},
{
"created": "2020-09-24T11:48:53.802459+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: PYGM was added\ngene: PYGM was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGM were set to McCardle disease MIM# 608455\nReview for gene: PYGM was set to GREEN\nAdded comment: McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria \r\nNot reviewed by Babyseq, included in NCNEXUS newborn screening list. \r\nActionable by controlled physical activity and programmed glucose intake. \nSources: Expert list",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-09-24T10:56:06.836358+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: malignant hyperthermia, multiminicore disease MIM#180901; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-09-24T10:53:34.353427+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2020-09-24T10:51:17.885011+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema due to AAT deficiency, OMIM #107400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2020-09-24T10:47:16.925066+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SFTPC",
"entity_type": "gene"
}
]
}