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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1539",
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"results": [
{
"created": "2020-10-15T20:30:18.101643+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:29:34.392290+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:28:34.387768+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDPCP as ready",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:28:34.377136+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:28:31.818878+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:28:02.113640+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to ",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:27:33.658571+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:27:06.798895+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Amber List (moderate evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:27:06.790805+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:26:22.443244+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:24:09.708308+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:23:44.915032+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to ",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:23:14.545440+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Amber List (moderate evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:23:14.538068+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:22:45.727372+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:21:37.373592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDPCP as ready",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:21:37.363731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:21:32.213893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDPCP were changed from Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:21:25.460932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:20:52.225792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to ",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:20:33.293272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:20:14.655710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Amber List (moderate evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:20:14.644055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T20:19:56.162316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:15:06.676080+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP6 as ready",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:15:06.660572+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp6 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:15:04.171865+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:14:53.674897+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBGCP6 were set to ",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:14:42.854414+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:14:32.971549+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22279524, 25344692; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:09:14.114654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP4 as ready",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:09:14.101488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp4 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:09:03.265693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:08:44.444843+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBGCP4 were set to ",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:08:25.700741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBGCP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:08:07.281532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817018, 32270730; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:06:29.262071+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP4 as ready",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:06:29.247541+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp4 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:06:26.896827+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:06:17.996296+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBGCP4 were set to ",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:06:08.477501+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBGCP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:05:58.721017+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817018, 32270730; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T18:56:52.984300+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The disorders associated with this gene likely represent a spectrum rather than distinct conditions, therefore gene-disease association evidence assessed across publications. . RP/retinal dysfunction reported in more than 3 families, supportive functional data.; to: The disorders associated with this gene likely represent a spectrum rather than distinct conditions, therefore gene-disease association evidence assessed across publications. RP/retinal dysfunction reported in more than 3 families, supportive functional data.",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2020-10-15T18:56:45.282553+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The disorders associated with this gene likely represent a spectrum. RP/retinal dysfunction reported in more than 3 families, supportive functional data.; to: The disorders associated with this gene likely represent a spectrum rather than distinct conditions, therefore gene-disease association evidence assessed across publications. . RP/retinal dysfunction reported in more than 3 families, supportive functional data.",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:52:57.248506+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2LI1 as ready",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:52:57.239937+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2li1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:52:54.799044+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2LI1 were changed from to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:52:27.301284+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC2LI1 were set to ",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:52:00.706219+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYNC2LI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:51:32.163358+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33030252; Phenotypes: Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:50:37.573693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2LI1 as ready",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:50:37.564770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2li1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:50:30.544671+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2LI1 were changed from to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:50:12.715638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC2LI1 were set to ",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:49:55.473685+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYNC2LI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:48:09.020567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC20A2 were changed from Basal ganglia calcification, idiopathic, 1, MIM# 213600 to Basal ganglia calcification, idiopathic, 1, MIM# 213600; ?hereditary multiple exostoses",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:47:44.291366+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC20A2 were set to 22327515; 23334463",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:07:08.414361+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TRAPPC9.",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-10-15T16:44:08.130905+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC9 were set to 30853973",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-10-15T16:43:19.042167+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22549410, 20004765, 20004763, 30853973, 29187737; Phenotypes: Mental retardation, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-10-15T16:42:50.191368+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763; 30853973",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-10-15T16:41:52.393379+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TRAPPC9.",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-10-15T16:41:44.092180+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRAPPC9: Added comment: Note multiple intragenic CNVs reported for this gene.; Changed publications: 22549410, 20004765, 20004763, 30853973, 29187737",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-10-15T16:41:05.646048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763; 30853973",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-10-15T16:40:40.474977+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TRAPPC9.",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-10-15T16:14:13.084116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4917",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33030252; Phenotypes: Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T16:06:36.197955+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4917",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 24209445, 23437308, 32705272, 27943094; Phenotypes: Basal ganglia calcification, idiopathic, 1213600, ?hereditary multiple exostoses; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:58.362749+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel status changed from deleted to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-15T15:57:05.876325+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 605590 Refractory anaemia with ring sideroblasts for gene: SF3B1\nPublications for gene SF3B1 were updated from 21995386; 28188970 to 28188970; 21995386",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.819322+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Epsilon-gamma-delta-beta thalassaemia for gene: HBE1",
"entity_name": "HBE1",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.763721+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 614164 Hemolytic anemia due to glutathione peroxidase deficiency for gene: GPX1",
"entity_name": "GPX1",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.707722+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 229100 Glutamate formiminotransferase deficiency for gene: FTCD",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.650903+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 305000 Dyskeratosis congenita, X-linked for gene: DKC1",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.594548+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 250790 Methemoglobinemia and ambiguous genitalia for gene: CYB5A\nPublications for gene CYB5A were updated from 20080843; 8168836 to 8168836; 20080843",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.538300+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX\nPublications for gene ATRX were updated from 19444090; 11449489; 17579672 to 19444090; 17579672; 11449489",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.482097+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2\nPublications for gene TSR2 were updated from 24942156; 20301769 to 20301769; 24942156",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.423704+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes hypochromic anaemia for gene: STEAP3",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.368553+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 for gene: RPS28\nPublications for gene RPS28 were updated from 24942156; 20301769 to 20301769; 24942156",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.308007+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Diamond-Blackfan anaemia for gene: RPL18",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.251823+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1\nPublications for gene PGK1 were updated from 6412025; 16740138 to 16740138; 6412025",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.181988+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2 for gene: NHP2",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.123599+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes sideroblastic anaemia for gene: NDUFB11",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.066097+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes hydrops/sideroblastic anaemia for gene: LARS2",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:05.008399+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2\nPublications for gene YARS2 were updated from 23918765; 20598274; 22504945 to 23918765; 22504945; 20598274",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.942502+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 300842 McLeod syndrome for gene: XK\nPublications for gene XK were updated from 11761473; 17683354 to 17683354; 11761473",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.886736+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 258900 Orotic aciduria with megaloblastic anaemia for gene: UMPS",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.831520+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; sideroblastic anaemia for gene: TRNT1",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.775830+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Enzyme Disorder; Hemolytic anemia due to triosephosphate isomerase deficiency,615512 for gene: TPI1\nPublications for gene TPI1 were updated from 9338582; 11698297 to 11698297; 9338582",
"entity_name": "TPI1",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.717000+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Iron refractoryirondeficiencyanemia,206200; Iron-Refractory Iron Deficiency Anemia; 206200 Iron refractoryirondeficiencyanemia for gene: TMPRSS6",
"entity_name": "TMPRSS6",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.658598+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital hypotransferrinemia; Atransferrinemia, 209300; 209300 Congenital hypotransferrinemia for gene: TF\nPublications for gene TF were updated from 11110675; 1862777; 8187613; 3472216; 10660486 to 8187613; 1862777; 10660486; 3472216; 11110675",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.601261+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes megaloblastic bone marrow; thrombocytopenia; 275350 Transcobalamin II deficiency; Agammaglobulinemia; pancytopenia; neutropenic colitis; can have a presentation similar to severe combined immunodeficiency; failure to thrive; Transcobalamin II deficiency; neutropenia; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow for gene: TCN2\nPublications for gene TCN2 were updated from 7849710; 10518276 to 10518276; 7849710",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.542258+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 617948 Elliptocytosis-3; Spherocytosis,616649; Anemia, neonatal hemolytic, fatal and near-fatal; RBC membrane abnormality; 616649 Spherocytosis, type 2; 616649 Anemia, neonatal hemolytic, fatal and near-fatal; Elliptocytosis for gene: SPTB",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.484463+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 270970 Spherocytosis, type 3; RBC membrane abnormality; 266140 Pyropoikilocytosis; Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; 130600 Elliptocytosis-2; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600 for gene: SPTA1",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.426109+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis; RBC membrane abnormality; 166900 Ovalocytosis, SA type; Haemolytic Anemia; Cryohydrocytosis,185020; 612653 Spherocytosis, type 4; Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653 for gene: SLC4A1",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.367975+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Stomatocytosis; 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Pyridoxine-refractory sideroblastic anemia for gene: SLC2A1",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.305851+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; 205950 Pyridoxine refractory sideroblastic anaemia 2; 205950 Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.186181+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; 249270 Thiamine-responsive megaloblastic anemia syndrome for gene: SLC19A2",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.127149+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 206100 Anemia, hypochromic microcytic, with iron overload 1; Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2\nPublications for gene SLC11A2 were updated from 15459009; 16439678; 16160008 to 16160008; 16439678; 15459009",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.069436+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital Dyserythropoietic Anemia; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Anemia, dyserythropoieticcongenital, type II, 224100; Congenital dyserythropoietic anemia type II; 224100 Congenital dyserythropoietic anaemia type 2 for gene: SEC23B",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-10-15T15:57:04.012454+11:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 260400 Shwachman-Diamond syndrome; Shwachman-Diamond syndrome for gene: SBDS",
"entity_name": "SBDS",
"entity_type": "gene"
}
]
}