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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1130",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1128",
"results": [
{
"created": "2021-11-15T12:03:15.220811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2021-11-15T12:02:36.603268+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2021-11-15T12:02:26.898324+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHKB as ready",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2021-11-15T12:02:26.881901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chkb has been classified as Green List (High Evidence).",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2021-11-15T12:02:22.708738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type 602541 to Muscular dystrophy, congenital, megaconial type, MIM# 602541",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2021-11-15T12:01:47.428218+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHKB were set to ",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2021-11-15T12:01:34.300781+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:58:42.252083+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:58:42.243057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Green List (High Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:58:26.557722+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD7 were changed from CHARGE SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME TYPE 5 to CHARGE syndrome, MIM# 214800",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:58:13.224242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD7 were set to ",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:58:02.725386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:57:50.984497+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Very rare reports of CDH in CHARGE syndrome, not a characteristic or common feature.; to: Well established gene-disease association, multiple congenital anomalies are a feature.",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:57:30.431446+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHD7: Changed rating: GREEN",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:57:09.356490+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD4 as ready",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:57:09.346467+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Green List (High Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:56:41.266423+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD4 were set to ",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:56:28.206675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Many P/LP variants reported. Missense variants disrupt ATPase activity and decrease nucleosome remodelling ability. ~50% of missense variants occur between p.1127-1192 containing motifs V, Vb and VI.; to: Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual developmental disorder with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features.\r\n\r\nMany P/LP variants reported. Missense variants disrupt ATPase activity and decrease nucleosome remodelling ability. ~50% of missense variants occur between p.1127-1192 containing motifs V, Vb and VI.",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:55:55.314703+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:55:21.184772+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHAT as ready",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:55:21.172489+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chat has been classified as Green List (High Evidence).",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:54:12.494070+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHAT were changed from to Myasthenic syndrome, congenital, 6, presynaptic, 254210",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:53:44.806661+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHAT were set to ",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:53:15.291818+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:52:48.827601+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068, 12756141, 31192527, 29518833, 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:51:59.778768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHAT as ready",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:51:59.769529+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chat has been classified as Green List (High Evidence).",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:51:53.243712+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHAT were set to ",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:51:38.088110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068, 12756141, 31192527, 29518833, 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:51:24.664910+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.236",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846; Phenotypes: Aicardi-Goutieres syndrome 7 MIM#615846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:50:02.446660+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHAMP1 as ready",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:50:02.425286+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: champ1 has been classified as Green List (High Evidence).",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:49:58.400678+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHAMP1 were changed from to Mental retardation, autosomal dominant 40 (MIM#616579)",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:49:35.529874+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHAMP1 were set to ",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:49:06.668576+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHAMP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:48:35.370279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHAMP1 as ready",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:48:35.353183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: champ1 has been classified as Green List (High Evidence).",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:48:30.903338+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:48:07.674384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHAMP1 were changed from to Mental retardation, autosomal dominant 40 (MIM#616579)",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:47:47.849542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHAMP1 were set to ",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:47:28.019186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHAMP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:47:11.515627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:46:37.549478+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHAMP1 as ready",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:46:37.537994+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: champ1 has been classified as Green List (High Evidence).",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:46:33.091921+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHAMP1 were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 40 (MIM#616579); microcephaly",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:46:14.945878+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHAMP1 as ready",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:46:14.940913+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Sufficient number with microcephaly for Green rating.",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:46:14.898901+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: champ1 has been classified as Green List (High Evidence).",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:45:40.580835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHAMP1 were set to ",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:45:30.157419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHAMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:45:17.603535+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:42:12.737102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFTR as ready",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:42:12.728003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:42:03.309346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700; Congenital bilateral absence of vas deferens, MIM# 277180",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:41:43.032387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:41:23.878989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700, Congenital bilateral absence of vas deferens, MIM# 277180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:40:30.036780+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFTR as ready",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:40:30.021644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:40:20.978330+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFTR were changed from Cystic fibrosis 219700 to Cystic fibrosis, MIM# 219700",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:38:29.639323+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:35:48.433541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFC1 as ready",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:35:48.423315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfc1 has been classified as Green List (High Evidence).",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:35:44.338363+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFC1 were changed from Heterotaxy, visceral, 2, autosomal, 605376; CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS to Heterotaxy, visceral, 2, autosomal 605376",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:35:30.179892+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFC1 were set to 11062482; 11799476",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:34:40.823637+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP53 as ready",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:34:40.813519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap53 has been classified as Green List (High Evidence).",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:34:36.884244+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP53 were changed from inverted spleen; midline liver; Dextrocardia; Heterotaxy, visceral, 6, autosomal recessive; Transposition of the great arteries; gut malrotation to Heterotaxy, visceral, 6, autosomal recessive 614779",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:34:23.397571+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 26531781; PMID: 25504577",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:33:23.169914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.432",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Mucopolysaccharidosis Ih (MIM#607014), Mucopolysaccharidosis Ih/s (MIM#607015), Mucopolysaccharidosis Is (MIM#6070), Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:33:22.598303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP83 as ready",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:33:22.587766+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Green List (High Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:33:18.534023+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP83 were changed from INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Hydrocephalus; ID",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:33:05.437784+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP83 were set to ",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:32:24.391702+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP57 as ready",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:32:24.377612+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep57 has been classified as Green List (High Evidence).",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:32:20.907615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP57 were changed from MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 to Mosaic variegated aneuploidy syndrome 2, #MIM 614114",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:32:09.176140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP57 were set to ",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:30:01.446919+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.428",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921913, 9762601, 8940265, 1901826; Phenotypes: Mucopolysaccharidosis II MIM#309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:28:13.422441+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP41 as ready",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:28:13.413650+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep41 has been classified as Green List (High Evidence).",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:28:08.699505+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP41 were changed from JOUBERT SYNDROME 15 to Joubert syndrome 15, MIM# 614464",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:27:57.261909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP41 were set to ",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:26:37.341333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9725",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ASIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "ASIP",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:09:48.973971+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETV6 were changed from Thrombocytopenia 5, MIM#\t616216 to Thrombocytopaenia 5, MIM#\t616216",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:09:23.312810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETV6 as ready",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:09:23.303332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etv6 has been classified as Green List (High Evidence).",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:09:13.955752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETV6 were changed from to Thrombocytopaenia 5, MIM# 616216",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:08:56.041485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETV6 were set to ",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:08:35.187042+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETV6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:08:17.074788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25581430, 25807284; Phenotypes: Thrombocytopaenia 5, MIM# 616216; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2021-11-15T11:07:53.847630+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ETV6: Changed phenotypes: Thrombocytopaenia 5, MIM# 616216",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2021-11-15T10:41:53.296683+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.426",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 30160832, 34643041; Phenotypes: Ayme-Gripp syndrome (MIM#601088); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAF",
"entity_type": "gene"
},
{
"created": "2021-11-15T09:44:59.286835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.426",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22829427; Phenotypes: Cutis laxa, autosomal recessive, type IC (MIM#613177); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2021-11-15T09:20:33.766962+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.426",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344874, 25899461, 25669657, 29625025, 27068007, 34150014; Phenotypes: Dental anomalies and short stature, MIM# 601216, Geleophysic dysplasia 3, MIM# 617809, Thoracic aneurysm; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-11-15T09:10:02.967010+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.426",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23636941, 23664847, 30041615, 20381006; Phenotypes: Cenani-Lenz syndactyly syndrome (MIM#212780); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2021-11-14T18:19:09.000150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSG as ready",
"entity_name": "BSG",
"entity_type": "gene"
},
{
"created": "2021-11-14T18:19:08.989316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bsg has been classified as Red List (Low Evidence).",
"entity_name": "BSG",
"entity_type": "gene"
},
{
"created": "2021-11-14T18:19:01.026260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BSG were changed from to [Blood group, OK] MIM#111380",
"entity_name": "BSG",
"entity_type": "gene"
},
{
"created": "2021-11-14T18:18:40.313768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BSG as Red List (low evidence)",
"entity_name": "BSG",
"entity_type": "gene"
},
{
"created": "2021-11-14T18:18:40.303987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bsg has been classified as Red List (Low Evidence).",
"entity_name": "BSG",
"entity_type": "gene"
}
]
}