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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=399",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=397",
"results": [
{
"created": "2024-09-05T15:19:23.814769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: larp1 has been classified as Green List (High Evidence).",
"entity_name": "LARP1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:18:46.384243+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARP1 as ready",
"entity_name": "LARP1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:18:46.369521+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: larp1 has been classified as Green List (High Evidence).",
"entity_name": "LARP1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:17:08.019393+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LARP1 as Green List (high evidence)",
"entity_name": "LARP1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:17:07.994214+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: larp1 has been classified as Green List (High Evidence).",
"entity_name": "LARP1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:14:50.251581+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA8 as ready",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:14:50.235813+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla8 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:14:40.383948+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from PNPLA8-related neurological diseases to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:13:58.562057+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA8 as ready",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:13:58.537758+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla8 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:13:48.786704+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from PNPLA8-related neurological diseases to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:12:45.835194+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:12:02.818491+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from Mitochondrial myopathy with lactic acidosis (MIM#251950), AR to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:10:50.936949+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA8 as ready",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:10:50.922580+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla8 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:10:49.422988+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:10:08.244498+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from PNPLA8-related neurological diseases to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:09:36.392494+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.70",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFC4 as Green List (high evidence)",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:09:36.375272+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.70",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfc4 has been classified as Green List (High Evidence).",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:09:14.016912+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA8 as ready",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:09:13.992455+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla8 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:09:10.964961+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from PNPLA8-related neurological diseases to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:08:13.577982+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from Mitochondrial myopathy with lactic acidosis (MIM#251950), AR to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:07:40.786653+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA8 as ready",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:07:40.763579+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla8 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:07:34.926167+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:07:10.628261+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from PNPLA8-related neurological diseases to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:06:13.021550+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA8 as ready",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:06:13.007831+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla8 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:06:04.497735+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA8 were changed from PNPLA8-related neurological diseases to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related",
"entity_name": "PNPLA8",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:05:34.107856+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.68",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RFC4 was added\ngene: RFC4 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFC4 were set to PMID: 39106866\nPhenotypes for gene: RFC4 were set to RFC4-related multisystem disorder\nReview for gene: RFC4 was set to GREEN\ngene: RFC4 was marked as current diagnostic\nAdded comment: 9 affected individuals (aged birth to 47yrs) from 8 unrelated families with a multisystem disorder. Clinical features included: muscle weakness/myopathy (9/9), motor incoordination/gait disturbance (8/8), delayed gross motor development (6/9), dysarthria (5/5), peripheral neuropathy (3/3 adults), bilateral sensorineural hearing impairment (6/9), decreased body weight (8/9), short stature (5/9), microcephaly (4/9), respiratory issues/insufficiency (6/9), cerebellar atrophy (4/9), pituitary hypoplasia (3/9). \r\n\r\nWES or WGS identified biallelic loss-of-function variants in RFC4 (3 frameshift, 2 splice site, 1 single AA duplication, 2 single AA deletions, 2 missense), and almost all are likely to disrupt the C-terminal domain indispensable for Replication factor C (RFC) complex formation. All variants segregated with the disease. \r\n\r\nThe RFC complex (with 5 subunits) is central to process of regulation of DNA replication, and it loads proliferating cell nuclear antigen onto DNA to facilitate the recruitment of replication and repair proteins and enhance DNA polymerase processivity. RFC1 is associated with CANVAS but the contributions of RFC2-5 subunits on human Mendelian disorders is unknown.\r\n\r\nAnalysis of a previously determined cryo-EM structure of RFC bound to proliferating cell nuclear antigen suggested that the variants disrupt interactions within RFC4 and/or destabilize the RFC complex. Cellular studies using RFC4-deficient HeLa cells and primary fibroblasts demonstrated decreased RFC4 protein, compromised stability of the other RFC complex subunits, and perturbed RFC complex formation. Additionally, functional studies of the RFC4 variants affirmed diminished RFC complex formation, and cell cycle studies suggested perturbation of DNA replication and cell cycle progression. \nSources: Literature",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:05:33.737677+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.197",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RFC4 was added\ngene: RFC4 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFC4 were set to PMID: 39106866\nPhenotypes for gene: RFC4 were set to RFC4-related multisystem disorder\nReview for gene: RFC4 was set to GREEN\ngene: RFC4 was marked as current diagnostic\nAdded comment: 9 affected individuals (aged birth to 47yrs) from 8 unrelated families with a multisystem disorder. Clinical features included: muscle weakness/myopathy (9/9), motor incoordination/gait disturbance (8/8), delayed gross motor development (6/9), dysarthria (5/5), peripheral neuropathy (3/3 adults), bilateral sensorineural hearing impairment (6/9), decreased body weight (8/9), short stature (5/9), microcephaly (4/9), respiratory issues/insufficiency (6/9), cerebellar atrophy (4/9), pituitary hypoplasia (3/9). \r\n\r\nWES or WGS identified biallelic loss-of-function variants in RFC4 (3 frameshift, 2 splice site, 1 single AA duplication, 2 single AA deletions, 2 missense), and almost all are likely to disrupt the C-terminal domain indispensable for Replication factor C (RFC) complex formation. All variants segregated with the disease. \r\n\r\nThe RFC complex (with 5 subunits) is central to process of regulation of DNA replication, and it loads proliferating cell nuclear antigen onto DNA to facilitate the recruitment of replication and repair proteins and enhance DNA polymerase processivity. RFC1 is associated with CANVAS but the contributions of RFC2-5 subunits on human Mendelian disorders is unknown.\r\n\r\nAnalysis of a previously determined cryo-EM structure of RFC bound to proliferating cell nuclear antigen suggested that the variants disrupt interactions within RFC4 and/or destabilize the RFC complex. Cellular studies using RFC4-deficient HeLa cells and primary fibroblasts demonstrated decreased RFC4 protein, compromised stability of the other RFC complex subunits, and perturbed RFC complex formation. Additionally, functional studies of the RFC4 variants affirmed diminished RFC complex formation, and cell cycle studies suggested perturbation of DNA replication and cell cycle progression. \nSources: Literature",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:05:31.354272+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6127",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RFC4 was added\ngene: RFC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFC4 were set to PMID: 39106866\nPhenotypes for gene: RFC4 were set to RFC4-related multisystem disorder\nReview for gene: RFC4 was set to GREEN\ngene: RFC4 was marked as current diagnostic\nAdded comment: 9 affected individuals (aged birth to 47yrs) from 8 unrelated families with a multisystem disorder. Clinical features included: muscle weakness/myopathy (9/9), motor incoordination/gait disturbance (8/8), delayed gross motor development (6/9), dysarthria (5/5), peripheral neuropathy (3/3 adults), bilateral sensorineural hearing impairment (6/9), decreased body weight (8/9), short stature (5/9), microcephaly (4/9), respiratory issues/insufficiency (6/9), cerebellar atrophy (4/9), pituitary hypoplasia (3/9). \r\n\r\nWES or WGS identified biallelic loss-of-function variants in RFC4 (3 frameshift, 2 splice site, 1 single AA duplication, 2 single AA deletions, 2 missense), and almost all are likely to disrupt the C-terminal domain indispensable for Replication factor C (RFC) complex formation. All variants segregated with the disease. \r\n\r\nThe RFC complex (with 5 subunits) is central to process of regulation of DNA replication, and it loads proliferating cell nuclear antigen onto DNA to facilitate the recruitment of replication and repair proteins and enhance DNA polymerase processivity. RFC1 is associated with CANVAS but the contributions of RFC2-5 subunits on human Mendelian disorders is unknown.\r\n\r\nAnalysis of a previously determined cryo-EM structure of RFC bound to proliferating cell nuclear antigen suggested that the variants disrupt interactions within RFC4 and/or destabilize the RFC complex. Cellular studies using RFC4-deficient HeLa cells and primary fibroblasts demonstrated decreased RFC4 protein, compromised stability of the other RFC complex subunits, and perturbed RFC complex formation. Additionally, functional studies of the RFC4 variants affirmed diminished RFC complex formation, and cell cycle studies suggested perturbation of DNA replication and cell cycle progression. \nSources: Literature",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:05:31.058205+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.68",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RFC4 was added\ngene: RFC4 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFC4 were set to PMID: 39106866\nPhenotypes for gene: RFC4 were set to RFC4-related multisystem disorder\nReview for gene: RFC4 was set to GREEN\ngene: RFC4 was marked as current diagnostic\nAdded comment: 9 affected individuals (aged birth to 47yrs) from 8 unrelated families with a multisystem disorder. Clinical features included: muscle weakness/myopathy (9/9), motor incoordination/gait disturbance (8/8), delayed gross motor development (6/9), dysarthria (5/5), peripheral neuropathy (3/3 adults), bilateral sensorineural hearing impairment (6/9), decreased body weight (8/9), short stature (5/9), microcephaly (4/9), respiratory issues/insufficiency (6/9), cerebellar atrophy (4/9), pituitary hypoplasia (3/9). \r\n\r\nWES or WGS identified biallelic loss-of-function variants in RFC4 (3 frameshift, 2 splice site, 1 single AA duplication, 2 single AA deletions, 2 missense), and almost all are likely to disrupt the C-terminal domain indispensable for Replication factor C (RFC) complex formation. All variants segregated with the disease. \r\n\r\nThe RFC complex (with 5 subunits) is central to process of regulation of DNA replication, and it loads proliferating cell nuclear antigen onto DNA to facilitate the recruitment of replication and repair proteins and enhance DNA polymerase processivity. RFC1 is associated with CANVAS but the contributions of RFC2-5 subunits on human Mendelian disorders is unknown.\r\n\r\nAnalysis of a previously determined cryo-EM structure of RFC bound to proliferating cell nuclear antigen suggested that the variants disrupt interactions within RFC4 and/or destabilize the RFC complex. Cellular studies using RFC4-deficient HeLa cells and primary fibroblasts demonstrated decreased RFC4 protein, compromised stability of the other RFC complex subunits, and perturbed RFC complex formation. Additionally, functional studies of the RFC4 variants affirmed diminished RFC complex formation, and cell cycle studies suggested perturbation of DNA replication and cell cycle progression. \nSources: Literature",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:02:01.793912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPARCL1 as ready",
"entity_name": "SPARCL1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:02:01.767109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sparcl1 has been classified as Red List (Low Evidence).",
"entity_name": "SPARCL1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:01:50.431481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPARCL1 was added\ngene: SPARCL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPARCL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPARCL1 were set to 39169229\nPhenotypes for gene: SPARCL1 were set to Corneal dystrophy, MONDO:0018102\nReview for gene: SPARCL1 was set to RED\nAdded comment: 8 affected individuals with corneal dystrophy from 1 family (3 generations). Affected individuals had diffuse central stromal opacity, with reduced visual acuity in older family members. Histopathology of affected cornea tissue revealed mild stromal textural alterations with alcianophilic deposits.\r\n\r\nWGS from 4 affected individuals in family identified a novel heterozygous missense variant in exon 4 of SPARCL1 (c.334G > A; p.(Glu112Lys)) which segregated with disease.\r\n\r\nSPARC-like protein 1 (SPARCL1) is a secreted matricellular protein involved in cell migration, cell adhesion, tissue repair, and remodelling. SPARCL1 has been shown to regulate decorin. Heterozygous variants in DCN, encoding decorin, cause autosomal dominant congenital stromal corneal dystrophy, suggesting a common pathogenic pathway. Immunohistochemistry showed the level of decorin was significantly decreased in the corneal stroma of the affected tissue, and SPARCL1 appeared to be retained in the epithelium. \nSources: Literature",
"entity_name": "SPARCL1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:00:11.224651+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPARCL1 as ready",
"entity_name": "SPARCL1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:00:11.206224+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sparcl1 has been classified as Red List (Low Evidence).",
"entity_name": "SPARCL1",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:59:15.286843+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA7 as Red List (low evidence)",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:59:15.272859+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa7 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:58:27.948683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA7 were changed from to Optic atrophy, MONDO:0003608, NDUFA7-related",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:58:09.206178+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA7 as Red List (low evidence)",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:58:09.154250+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa7 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:58:02.586464+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.262",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189492, 25778941, 23430932; Phenotypes: CPT deficiency, hepatic, type IA, 255120 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:57:57.315193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:57:15.249119+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFA7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy, MONDO:0003608, NDUFA7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:56:46.741475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA7: Changed rating: RED",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:56:28.749917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFA7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy, MONDO:0003608, NDUFA7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:55:30.080629+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA7 as ready",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:55:30.056751+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:55:25.360236+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA7 were changed from Leber Hereditary Optic Neuropathy, MIM#619382 to Optic atrophy, MONDO:0003608, NDUFA7-related",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:54:38.566403+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA7 as Amber List (moderate evidence)",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:54:38.547869+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:54:08.586419+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA7 as Amber List (moderate evidence)",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:54:08.557685+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA7",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:48:34.121136+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGEL2 as ready",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:48:34.100787+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magel2 has been classified as Green List (High Evidence).",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:48:22.670291+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAGEL2 as Green List (high evidence)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:48:22.653102+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magel2 has been classified as Green List (High Evidence).",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:47:48.896486+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAGEL2 was added\ngene: MAGEL2 was added to Hyperinsulinism. Sources: Expert list\nMode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: MAGEL2 were set to 25473036; 29599419; 31397880\nPhenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome, MIM#\t615547\nReview for gene: MAGEL2 was set to GREEN\nAdded comment: MAGEL2 is a maternally imprinted gene, paternally expressed, located on chromosome 15q11, within the critical region of Prader Willi syndrome. Congenital hyperinsulinism due to pathogenic variants on the paternal allele of MAGEL2 have been reported in 3 patients from 2 families with a diagnosis of persistent congenital hyperinsulinism and extra pancreatic features (ptosis, exotropia, high palate, smooth philtrum, inverted nipples, skeletal anomalies, hypotonia, low muscle mass and increased central distribution of body fat) (Soden et al Sci Transl Med 2014 PMID:25473036). Hypoglycaemia has been reported in a further 13 cases (Jobling et al J Med Genet 2018 PMID: 29599419, Patak et al 2019, Clin Genet PMID: 31397880). \nSources: Expert list",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:42:21.573406+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1C as ready",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:42:21.542160+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:42:15.927317+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1C as Amber List (moderate evidence)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:42:15.908339+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:41:35.261380+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1C was added\ngene: CACNA1C was added to Hyperinsulinism. Sources: Expert list\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1C were set to 35897673\nPhenotypes for gene: CACNA1C were set to Hyperinsulinism, MONDO:0002177, CACNA1C-related; Timothy syndrome, MIM#\t601005\nReview for gene: CACNA1C was set to AMBER\nAdded comment: PMID: 35897673 reports novel heterozygous CACNA1C variant in a patient with congenital hyperinsulinism (CHI), which appears to have gain-of-function and loss-of-function effects at the electrophysiological level, explaining the hyperinsulinism and resulting hypoglycemia in the patient reported. It appeared that c.1679T>C, p.L566P (NM_000719.6) reported in this patient has a minor effects on the cardiac action potential in an in silico model, in contrast to c.1216G>T, p.G406R (NM_000719.6) which is associated with the Long QT in Timothy syndrome (OMIM:601005). Therefore the authors conclude that this represents a novel congeital non-syndromic hyperinsulinism.\r\nHypoglycemia is also seen in Timothy syndrome patients with c.1216G>T, p.G406R (Table S3, PMID: 35897673). \nSources: Expert list",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:35:11.481325+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPC3 as ready",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:35:11.467252+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Red List (Low Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:34:12.320150+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT2 as ready",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:34:12.298575+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Red List (Low Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:33:37.519676+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGM1 as ready",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:33:37.502787+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgm1 has been classified as Green List (High Evidence).",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:33:30.237557+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGM1 were set to PMID: 24499211, 27206562",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:32:16.301992+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAFA as ready",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:32:16.288031+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mafa has been classified as Green List (High Evidence).",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:31:35.867124+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EP300 as ready",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:31:35.839580+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Green List (High Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:29:17.775292+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EP300 were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:28:18.768489+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREBBP as ready",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:28:18.752274+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:28:14.484277+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CREBBP were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:26:49.550057+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2C as ready",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:26:49.530545+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2c has been classified as Green List (High Evidence).",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:26:40.257262+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2C as Green List (high evidence)",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:26:40.241372+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2c has been classified as Green List (High Evidence).",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:26:03.041829+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2C as Green List (high evidence)",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:26:03.024065+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2c has been classified as Green List (High Evidence).",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2024-09-05T14:24:55.903179+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2C was added\ngene: KMT2C was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2C were set to 39013459\nPhenotypes for gene: KMT2C were set to Kleefstra syndrome 2, MIM#\t617768\nReview for gene: KMT2C was set to GREEN\nAdded comment: Large cohort of 98 individuals reported. Seizures are part of the phenotype. \nSources: Literature",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2024-09-05T13:28:16.452945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1980",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39155385, 38743093; Phenotypes: Human ABL1 Deficiency Syndrome (HADS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2024-09-05T13:04:25.586879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1980",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27147698; Phenotypes: myopathy caused by variation in GMPPB MONDO:0700084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2024-09-05T12:43:19.277312+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNA were changed from Restrictive dermopathy, lethal, 275210 (3) to Mandibuloacral dysplasia, MIM# 248370",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-09-05T12:41:50.893423+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMNA: Changed phenotypes: Mandibuloacral dysplasia, MIM# 248370",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-09-05T12:30:33.813367+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNE as ready",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2024-09-05T12:30:33.799719+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Green List (High Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2024-09-05T12:30:25.627165+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNE were changed from Inclusion body myopathy, autosomal recessive, 600737 (3) to Nonaka myopathy MIM#605820; Thrombocytopenia 12 with or without myopathy MIM#620757",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2024-09-05T12:30:13.251526+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNE were set to ",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2024-09-05T12:29:50.681464+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GNE.",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2024-09-05T12:29:40.881406+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nonaka myopathy MIM#605820, Thrombocytopenia 12 with or without myopathy MIM#620757; Mode of inheritance: None",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2024-09-05T12:19:17.885518+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.259",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: B9D1 as ready",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2024-09-05T12:19:17.877842+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.259",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Promote to green when final list confirmed",
"entity_name": "B9D1",
"entity_type": "gene"
}
]
}