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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1740",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1738",
"results": [
{
"created": "2020-07-08T13:56:41.045494+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGY as Amber List (moderate evidence)",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:56:41.035563+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigy has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:55:52.186875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGY as ready",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:55:52.177902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigy has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:55:45.348292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGY were changed from to Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:55:29.455674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGY were set to ",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:55:09.206594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:54:31.230953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGY as Amber List (moderate evidence)",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:54:31.221826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigy has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:53:24.385392+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYBPC3 as ready",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:53:24.377478+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc3 has been classified as Red List (Low Evidence).",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:53:13.848130+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYBPC3 as Red List (low evidence)",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:53:13.838508+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc3 has been classified as Red List (Low Evidence).",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:51:56.497373+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.179",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132692; Phenotypes: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:51:10.849056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTMR14 as ready",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:51:10.846262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Single family and animal models; postulated to be a modifier in the other family.",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:51:10.830927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtmr14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:50:35.095571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTMR14 as Amber List (moderate evidence)",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:50:35.069255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtmr14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:50:34.857568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:49:49.731391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTMR14 as ready",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:49:49.727494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Postulated to be a modifier.",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:49:49.702140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtmr14 has been classified as Red List (Low Evidence).",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:49:36.714687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTMR14 were set to ",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:49:14.225367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTMR14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:47:58.321171+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B2 were changed from leukodystrophy; congenital cataracts to leukodystrophy; congenital cataracts; Leukoencephalopathy with vanishing white matter, MIM# 603896",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:47:23.554197+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:02:45.307235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P4HA1 as ready",
"entity_name": "P4HA1",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:02:45.300330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4ha1 has been classified as Red List (Low Evidence).",
"entity_name": "P4HA1",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:02:38.005319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P4HA1 was added\ngene: P4HA1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: P4HA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: P4HA1 were set to 28419360\nPhenotypes for gene: P4HA1 were set to Joint hypermobility; Contractures; Hypotonia; Mild skeletal dysplasia without bone fragility; High myopia\nReview for gene: P4HA1 was set to RED\nAdded comment: Single family reported with two affected individuals. \nSources: Expert list",
"entity_name": "P4HA1",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:01:24.019382+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P4HA1 as ready",
"entity_name": "P4HA1",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:01:24.011468+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4ha1 has been classified as Red List (Low Evidence).",
"entity_name": "P4HA1",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:01:17.498547+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P4HA1 was added\ngene: P4HA1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: P4HA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: P4HA1 were set to 28419360\nPhenotypes for gene: P4HA1 were set to Joint hypermobility; Contractures; Hypotonia; Mild skeletal dysplasia without bone fragility; High myopia\nReview for gene: P4HA1 was set to RED\nAdded comment: Single family reported with two affected individuals. \nSources: Expert list",
"entity_name": "P4HA1",
"entity_type": "gene"
},
{
"created": "2020-07-08T12:36:07.492248+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 13 families described with biallelic LoF variants (PMID: 18997784). Phenotypes included wrinkly skin and osteoporosis.\r\n\r\nOne more individual described with a homozygous missense variant (PMID: 19681135). Clinical diagnosis of GO was based on the presence of typical facial features, reduced skin elasticity, and decreased bone density.\r\n\r\nThere have been no clinical reports since 2009.\r\n\r\nThis gene is Green in PanelApp England because it has phenotypic overlap with Eherls Danlos syndrome. I have left it amber as I'm not sure if the overlap is sufficient for this panel.\r\n\r\nFrom OMIM: \"Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged\" \r\nSources: Literature; to: 13 families described with biallelic LoF variants (PMID: 18997784). Phenotypes included wrinkly skin and osteoporosis.\r\n\r\nOne more individual described with a homozygous missense variant (PMID: 19681135). Clinical diagnosis of GO was based on the presence of typical facial features, reduced skin elasticity, and decreased bone density.\r\n\r\nThere have been no clinical reports since 2009.\r\n\r\nThis gene is Green in PanelApp England EDS panel because it has phenotypic overlap with Eherls Danlos syndrome. I have left it amber as I'm not sure if the overlap is sufficient for this panel.\r\n\r\nFrom OMIM: \"Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged\" \r\nSources: Literature",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-08T12:35:51.537750+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 13 families described with biallelic LoF variants (PMID: 18997784). Phenotypes included wrinkly skin and osteoporosis.\r\n\r\nOne more individual described with a homozygous missense variant (PMID: 19681135). Clinical diagnosis of GO was based on the presence of typical facial features, reduced skin elasticity, and decreased bone density.\r\n\r\nThere have been no clinical reports since 2009.\r\n\r\nThis gene is Green in PanelApp England because it has phenotypic overlap with Eherls Danlos syndrome.\r\n\r\nFrom OMIM: \"Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged\" \r\nSources: Literature; to: 13 families described with biallelic LoF variants (PMID: 18997784). Phenotypes included wrinkly skin and osteoporosis.\r\n\r\nOne more individual described with a homozygous missense variant (PMID: 19681135). Clinical diagnosis of GO was based on the presence of typical facial features, reduced skin elasticity, and decreased bone density.\r\n\r\nThere have been no clinical reports since 2009.\r\n\r\nThis gene is Green in PanelApp England because it has phenotypic overlap with Eherls Danlos syndrome. I have left it amber as I'm not sure if the overlap is sufficient for this panel.\r\n\r\nFrom OMIM: \"Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged\" \r\nSources: Literature",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-08T12:35:25.285631+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 13 families described with biallelic LoF variants (PMID: 18997784). Phenotypes included wrinkly skin and osteoporosis.\r\n\r\nOne more individual described with a homozygous missense variant (PMID: 19681135). Clinical diagnosis of GO was based on the presence of typical facial features, reduced skin elasticity, and decreased bone density.\r\n\r\nThere have been no clinical reports since 2009.\r\n\r\nThis gene is Green in PanelApp England because it has phenotypic overlap with Eherls Danlos syndrome. \nSources: Literature; to: 13 families described with biallelic LoF variants (PMID: 18997784). Phenotypes included wrinkly skin and osteoporosis.\r\n\r\nOne more individual described with a homozygous missense variant (PMID: 19681135). Clinical diagnosis of GO was based on the presence of typical facial features, reduced skin elasticity, and decreased bone density.\r\n\r\nThere have been no clinical reports since 2009.\r\n\r\nThis gene is Green in PanelApp England because it has phenotypic overlap with Eherls Danlos syndrome.\r\n\r\nFrom OMIM: \"Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged\" \r\nSources: Literature",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-08T11:54:46.146778+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 1 individual diagnosed with Marden-Walker syndrome was described with a de novo missense variant in this gene (PMID: 24726473). This is the only literature supporting this gene-disease association. One other proband with MWS did not have a variant in this gene.\r\n\r\nThe same study reported that another 10 families/individuals with Gordon syndrome (distal arthrogryposis type 3) and 24 with distal atrogryposis type 5 had variants in this gene. The authors posit that these three conditions represent a spectrum of disease.\r\n\r\nMarden-Walker syndrome is described as a connective tissue disorder (https://rarediseases.info.nih.gov/diseases/6973/marden-walker-syndrome) and has significant overlap with other multi-system congenital contracture syndromes including D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) (PMID: 27375131). GEL has this gene as Amber in the EDS panel noting some overlap with Kyphoscoliotic EDS in terms of scoliosis. \r\nSources: Literature; to: 1 individual diagnosed with Marden-Walker syndrome was described with a de novo missense variant in this gene (PMID: 24726473). This is the only literature supporting this gene-disease association. One other proband with MWS did not have a variant in this gene although the authors note that their sequencing strategy would not have been able to detect some indels including single-exon deletions.\r\n\r\nThe same study reported that another 10 families/individuals with Gordon syndrome (distal arthrogryposis type 3) and 24 with distal atrogryposis type 5 had variants in this gene. The authors posit that these three conditions represent a spectrum of disease.\r\n\r\nMarden-Walker syndrome is described as a connective tissue disorder (https://rarediseases.info.nih.gov/diseases/6973/marden-walker-syndrome) and has significant overlap with other multi-system congenital contracture syndromes including D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) (PMID: 27375131). GEL has this gene as Amber in the EDS panel noting some overlap with Kyphoscoliotic EDS in terms of scoliosis. \r\nSources: Literature",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T11:51:56.239544+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 1 individual diagnosed with Marden-Walker syndrome was described with a de novo missense variant in this gene (PMID: 24726473). Another 10 families/individuals with Gordon syndrome (distal arthrogryposis type 3) and 24 with distal atrogryposis type 5 had variants in this gene. The authors posit that these three conditions represent a spectrum of disease.\r\n\r\nMarden-Walker syndrome is described as a connective tissue disorder (https://rarediseases.info.nih.gov/diseases/6973/marden-walker-syndrome) and has significant overlap with other multi-system congenital contracture syndromes including D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) (PMID: 27375131). GEL has this gene as Amber in the EDS panel noting some overlap with Kyphoscoliotic EDS in terms of scoliosis. \r\nSources: Literature; to: 1 individual diagnosed with Marden-Walker syndrome was described with a de novo missense variant in this gene (PMID: 24726473). This is the only literature supporting this gene-disease association. One other proband with MWS did not have a variant in this gene.\r\n\r\nThe same study reported that another 10 families/individuals with Gordon syndrome (distal arthrogryposis type 3) and 24 with distal atrogryposis type 5 had variants in this gene. The authors posit that these three conditions represent a spectrum of disease.\r\n\r\nMarden-Walker syndrome is described as a connective tissue disorder (https://rarediseases.info.nih.gov/diseases/6973/marden-walker-syndrome) and has significant overlap with other multi-system congenital contracture syndromes including D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) (PMID: 27375131). GEL has this gene as Amber in the EDS panel noting some overlap with Kyphoscoliotic EDS in terms of scoliosis. \r\nSources: Literature",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T11:50:24.360716+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2737",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PLCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24684524, 20833646, 22690784, 26818157; Phenotypes: Epileptic encephalopathy, early infantile, 12 (MIM#613722); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T11:50:12.878519+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: PIEZO2: Changed publications: 24726473, 27375131",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T11:50:09.019067+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 1 individual diagnosed with Marden-Walker syndrome was described with a de novo missense variant in this gene (PMID: 24726473). Another 10 families/individuals with Gordon syndrome (distal arthrogryposis type 3) and 24 with distal atrogryposis type 5 had variants in this gene. The authors posit that these three conditions represent a spectrum of disease.\r\n\r\nMarden-Walker syndrome is described as a connective tissue disorder (https://rarediseases.info.nih.gov/diseases/6973/marden-walker-syndrome) and has significant overlap with other multi-system congenital contracture syndromes including D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome). GEL has this gene as Amber in the EDS panel noting some overlap with Kyphoscoliotic EDS in terms of scoliosis. \nSources: Literature; to: 1 individual diagnosed with Marden-Walker syndrome was described with a de novo missense variant in this gene (PMID: 24726473). Another 10 families/individuals with Gordon syndrome (distal arthrogryposis type 3) and 24 with distal atrogryposis type 5 had variants in this gene. The authors posit that these three conditions represent a spectrum of disease.\r\n\r\nMarden-Walker syndrome is described as a connective tissue disorder (https://rarediseases.info.nih.gov/diseases/6973/marden-walker-syndrome) and has significant overlap with other multi-system congenital contracture syndromes including D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) (PMID: 27375131). GEL has this gene as Amber in the EDS panel noting some overlap with Kyphoscoliotic EDS in terms of scoliosis. \r\nSources: Literature",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T11:47:21.803530+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.741",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PLCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24684524, 20833646, 22690784, 26818157; Phenotypes: Epileptic encephalopathy, early infantile, 12 (MIM#613722); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2020-07-08T11:47:11.809985+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: PIEZO2 was added\ngene: PIEZO2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIEZO2 were set to 24726473\nPhenotypes for gene: PIEZO2 were set to Marden-Walker syndrome (MIM#248700); Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145)\nReview for gene: PIEZO2 was set to AMBER\ngene: PIEZO2 was marked as current diagnostic\nAdded comment: 1 individual diagnosed with Marden-Walker syndrome was described with a de novo missense variant in this gene (PMID: 24726473). Another 10 families/individuals with Gordon syndrome (distal arthrogryposis type 3) and 24 with distal atrogryposis type 5 had variants in this gene. The authors posit that these three conditions represent a spectrum of disease.\r\n\r\nMarden-Walker syndrome is described as a connective tissue disorder (https://rarediseases.info.nih.gov/diseases/6973/marden-walker-syndrome) and has significant overlap with other multi-system congenital contracture syndromes including D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome). GEL has this gene as Amber in the EDS panel noting some overlap with Kyphoscoliotic EDS in terms of scoliosis. \nSources: Literature",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-07-08T11:37:25.430421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3267",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15105459, 32373565; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM# 607313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2020-07-08T11:11:31.861082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3267",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26293662; Phenotypes: Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2020-07-08T11:09:32.619573+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.54",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MYBPC3 was added\ngene: MYBPC3 was added to Muscular dystrophy. Sources: Expert list\nMode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYBPC3 were set to PMID: 19858127\nPhenotypes for gene: MYBPC3 were set to Cardiomyopathy with myopathy\nReview for gene: MYBPC3 was set to RED\nAdded comment: Single report of a dystrophy, patient was homozygous for a PTC. \nSources: Expert list",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:55:59.785520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3267",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19648921, 4076251, 22052856, 19576563, 19648921, 9648921, 22052856, 28294978, 27756598; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:41:36.761353+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GGPS1 as ready",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:41:36.747873+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggps1 has been classified as Green List (High Evidence).",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:41:30.189193+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GGPS1 as Green List (high evidence)",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:41:30.179711+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggps1 has been classified as Green List (High Evidence).",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:41:07.343132+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GGPS1 was added\ngene: GGPS1 was added to Deafness. Sources: Literature\nMode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGPS1 were set to 32403198\nPhenotypes for gene: GGPS1 were set to Muscular dystrophy; Deafness; Ovarian insufficiency\nReview for gene: GGPS1 was set to GREEN\nAdded comment: 11 individuals from 6 unrelated families reported. In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss, and all postpubertal females had primary ovarian insufficiency. Muscle histology was dystrophic, with ultrastructural evidence of autophagic material and large mitochondria in the most severe cases. Knock-in mouse of one of the mutations (Y259C) resulted in prenatal lethality. \nSources: Literature",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:39:39.111885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GGPS1 as ready",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:39:39.101266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggps1 has been classified as Green List (High Evidence).",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:39:26.445620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GGPS1 as Green List (high evidence)",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:39:26.438125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggps1 has been classified as Green List (High Evidence).",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:39:12.218800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GGPS1 was added\ngene: GGPS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGPS1 were set to 32403198\nPhenotypes for gene: GGPS1 were set to Muscular dystrophy; Deafness; Ovarian insufficiency\nReview for gene: GGPS1 was set to GREEN\nAdded comment: 11 individuals from 6 unrelated families reported. In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss, and all postpubertal females had primary ovarian insufficiency. Muscle histology was dystrophic, with ultrastructural evidence of autophagic material and large mitochondria in the most severe cases. Knock-in mouse of one of the mutations (Y259C) resulted in prenatal lethality. \nSources: Literature",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:37:52.968822+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GGPS1 as ready",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:37:52.958783+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggps1 has been classified as Green List (High Evidence).",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:37:47.830544+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GGPS1 as Green List (high evidence)",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:37:47.824209+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggps1 has been classified as Green List (High Evidence).",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:37:24.544274+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GGPS1 was added\ngene: GGPS1 was added to Muscular dystrophy. Sources: Literature\nMode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGPS1 were set to 32403198\nPhenotypes for gene: GGPS1 were set to Muscular dystrophy; Deafness; Ovarian insufficiency\nReview for gene: GGPS1 was set to GREEN\nAdded comment: 11 individuals from 6 unrelated families reported. In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss, and all postpubertal females had primary ovarian insufficiency. Muscle histology was dystrophic, with ultrastructural evidence of autophagic material and large mitochondria in the most severe cases. Knock-in mouse of one of the mutations (Y259C) resulted in prenatal lethality. \nSources: Literature",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:28:28.947315+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: RIN2 was added\ngene: RIN2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIN2 were set to 19631308; 20424861; 23963297; 24449201\nPhenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis (MIM# 613075)\nPenetrance for gene: RIN2 were set to unknown\nReview for gene: RIN2 was set to GREEN\nAdded comment: Also known as MACS syndrome. The most striking clinical features include macrocephaly, progressive facial coarsening, gingival hypertrophy, severe scoliosis, sparse hair and skin and joint hyperlaxity. All families reported thus far are homozygous for PTVs\r\n\r\nPMID: 19631308; 1x large consanguineous kindred with 3 affecteds \r\n\r\nPMID: 20424861; 1x consanguineous Algerian family with three affected siblings. \r\n\r\nPMID: 23963297; 1x patient with MACS syndrome and an additional phenotype of periventricular cystic lesions\r\n\r\nPMID: 24449201; 2 sibs born to non-consanguineous Turkish parents exhibiting additional clinical features of bronchiectasis and hypergonadotropic hypogonadism. \nSources: Literature",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:15:02.053060+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: LTBP4: Changed publications: 22829427; Changed phenotypes: Cutis laxa, autosomal recessive, type IC (MIM# 613177)",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:14:53.285687+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: ATP6V1A: Changed publications: 28065471",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:08:09.137916+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: COL6A3 was added\ngene: COL6A3 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: COL6A3 were set to PMID: 29277723; 24443028.\nPhenotypes for gene: COL6A3 were set to Bethlem myopathy 1 MIM #158810; Ullrich congenital muscular dystrophy 1 MIM #254090\nPenetrance for gene: COL6A3 were set to Complete\nMode of pathogenicity for gene: COL6A3 was set to Other\nReview for gene: COL6A3 was set to GREEN\nAdded comment: Both loss-of-function and dominant negative mechanism has been reported for this gene. Mutations result in a spectrum of disease, ranging from the milder Bethlem myopathy (monoallelic) to the more severe Ullrich congenital muscular dystrophy (biallelic) (PMID: 29277723; 24443028). \nSources: Literature",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-07-08T10:04:00.455101+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: COL6A2 was added\ngene: COL6A2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: COL6A2 were set to (PMID: 29277723; 24443028)\nPhenotypes for gene: COL6A2 were set to Bethlem myopathy 1 MIM #158810; Ullrich congenital muscular dystrophy 1 MIM #254090\nPenetrance for gene: COL6A2 were set to Complete\nMode of pathogenicity for gene: COL6A2 was set to Other\nReview for gene: COL6A2 was set to GREEN\nAdded comment: Both loss-of-function and dominant negative mechanism has been reported for this gene. Mutations result in a spectrum of disease, ranging from the milder Bethlem myopathy (monoallelic) to the more severe Ullrich congenital muscular dystrophy (biallelic) (PMID: 29277723; 24443028). \nSources: Literature",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2020-07-08T09:54:50.964639+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: LTBP4 was added\ngene: LTBP4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTBP4 were set to PMID: 22829427\nPhenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC (MIM# \t613177)\nPenetrance for gene: LTBP4 were set to unknown\nReview for gene: LTBP4 was set to GREEN\nAdded comment: PMID: 22829427;\r\n- 9 families with cutis laxa, either homozygotes or cHets.\r\n- all PTVs except 1 homozygous missense\r\n- Most LTBP4 mutation positive patients (11/13) had generalized moderate to severe cutis laxa, skin was hyperextensible, or appeared translucent with a prominent venous pattern (3/9), few patients had thin and slowly growing hair and inguinal and diaphragmatic hernias (5/9) \nSources: Literature",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2020-07-08T09:53:15.440703+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: GORAB was added\ngene: GORAB was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GORAB were set to 18997784; 19681135\nPhenotypes for gene: GORAB were set to Geroderma osteodysplasticum MIM#231070\nReview for gene: GORAB was set to AMBER\ngene: GORAB was marked as current diagnostic\nAdded comment: 13 families described with biallelic LoF variants (PMID: 18997784). Phenotypes included wrinkly skin and osteoporosis.\r\n\r\nOne more individual described with a homozygous missense variant (PMID: 19681135). Clinical diagnosis of GO was based on the presence of typical facial features, reduced skin elasticity, and decreased bone density.\r\n\r\nThere have been no clinical reports since 2009.\r\n\r\nThis gene is Green in PanelApp England because it has phenotypic overlap with Eherls Danlos syndrome. \nSources: Literature",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-07-08T09:46:59.507483+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: COL6A1 was added\ngene: COL6A1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: COL6A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: COL6A1 were set to PMID: 29277723; 24443028.\nPhenotypes for gene: COL6A1 were set to Bethlem myopathy 1 MIM #158810; Ullrich congenital muscular dystrophy 1 MIM #254090\nPenetrance for gene: COL6A1 were set to Complete\nMode of pathogenicity for gene: COL6A1 was set to Other\nReview for gene: COL6A1 was set to GREEN\nAdded comment: Both loss-of-function and dominant negative mechanism has been reported for this gene. Mutations result in a spectrum of disease, ranging from the milder Bethlem myopathy (monoallelic) to the more severe Ullrich congenital muscular dystrophy (biallelic) (PMID: 29277723; 24443028). \nSources: Literature",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2020-07-08T09:45:37.387430+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.178",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: EIF2B2 as ready",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-07-08T09:45:37.378223+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.178",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-07-08T09:45:15.415467+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.178",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: EIF2B2 as Green List (high evidence)",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-07-08T09:45:15.406559+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.178",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-07-08T09:43:38.213320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3265",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: MTMR14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20400459, 20817957, 19465920, 17008356; Phenotypes: {Centronuclear myopathy, autosomal, modifier of}, MIM# 160150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-07-08T09:43:13.935877+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.177",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: EIF2B2 was added\ngene: EIF2B2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF2B2 were set to 21484434; 14566705; 28041799\nPhenotypes for gene: EIF2B2 were set to leukodystrophy; congenital cataracts\ngene: EIF2B2 was marked as current diagnostic\nAdded comment: From GEL: There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. \nSources: Literature",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-07-08T09:40:18.865648+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.138",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATP6V1A was added\ngene: ATP6V1A was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6V1A were set to PMID: 28065471\nPhenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID (MIM# 617403)\nPenetrance for gene: ATP6V1A were set to unknown\nReview for gene: ATP6V1A was set to GREEN\nAdded comment: PMID: 28065471; \r\n- 3 families (including 2 consanguineous) with homozygous missense \r\n- in vitro assays using patients' fibroblasts demonstrated the variants disrupted V-ATPase complex assembly and stability \nSources: Literature",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:43:31.431022+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CTDP1: Changed rating: GREEN",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:43:23.649386+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CTDP1: Changed publications: 14517542, 24690360, 25529582",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:41:39.972361+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTDP1 as ready",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:41:39.962914+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctdp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:40:34.964435+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTDP1 were changed from to Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:40:04.832893+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTDP1 were set to ",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:39:30.419642+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:39:02.678745+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTDP1 as Amber List (moderate evidence)",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:39:02.670068+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctdp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:38:17.563995+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CTDP1.",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:38:08.586920+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 14517542, 24690360; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:30:04.111278+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYRK1A as ready",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-07-07T19:30:04.087747+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Red List (Low Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-07-07T17:58:13.874881+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.172",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DYRK1A was added\ngene: DYRK1A was added to Cataract. Sources: Literature\nMode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DYRK1A were set to 28053047; 25944381\nPhenotypes for gene: DYRK1A were set to congenital cataracts\nReview for gene: DYRK1A was set to RED\nAdded comment: Really only one patient where cataract has been attributed directly to DYRK1A variant, 13 others with DYRK1A variants did not have cataracts (28053047). Second mention of cataract the gene was part of a large multi-gene deletion, and again other patients with DYRK1A (28053047) variants did not have cataract. Insufficient evidence. \nSources: Literature",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2020-07-07T17:47:37.301578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3265",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: DNMBP as ready",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2020-07-07T17:47:37.288266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3265",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dnmbp has been classified as Green List (High Evidence).",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2020-07-07T17:47:13.712125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3265",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DNMBP as Green List (high evidence)",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2020-07-07T17:47:13.701148+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3265",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dnmbp has been classified as Green List (High Evidence).",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2020-07-07T17:46:52.271804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3264",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DNMBP was added\ngene: DNMBP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DNMBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNMBP were set to 30290152\nPhenotypes for gene: DNMBP were set to congenital cataract\nReview for gene: DNMBP was set to GREEN\ngene: DNMBP was marked as current diagnostic\nAdded comment: Multiple individuals from three independent large consanguineous families with bilateral infantile cataracts. Seperate hom nonsense variants. \nSources: Literature",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2020-07-07T17:46:36.355672+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.171",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: DNMBP as ready",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2020-07-07T17:46:36.343120+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.171",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dnmbp has been classified as Green List (High Evidence).",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2020-07-07T17:46:00.686772+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.171",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DNMBP as Green List (high evidence)",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2020-07-07T17:46:00.671665+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.171",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dnmbp has been classified as Green List (High Evidence).",
"entity_name": "DNMBP",
"entity_type": "gene"
}
]
}