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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=284",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=282",
"results": [
{
"created": "2025-03-20T15:40:31.307760+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1606",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FANCA as ready",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:40:31.297610+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1606",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fanca has been classified as Green List (High Evidence).",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:39:47.117724+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1606",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FBP1 as ready",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:39:47.108327+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1606",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fbp1 has been classified as Green List (High Evidence).",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:39:38.906191+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1606",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FBP1 were set to ",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:36:49.219385+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1605",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FERMT3 as ready",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:36:49.212368+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1605",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fermt3 has been classified as Green List (High Evidence).",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:36:43.205467+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1605",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FERMT3 were set to ",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:36:05.611212+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1604",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: WRAP53 as ready",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:36:05.603656+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1604",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: wrap53 has been classified as Green List (High Evidence).",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:36:02.641640+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1604",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: WRAP53 were set to ",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:35:09.761622+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1603",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: XPC as ready",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:35:09.750576+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1603",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: xpc has been classified as Green List (High Evidence).",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:35:06.386794+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1603",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: XPC were set to ",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:34:23.695931+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1602",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ZNF469 as ready",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:34:23.693056+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1602",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Upgrade to green",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:34:23.670903+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1602",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: znf469 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:33:22.862087+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1602",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ZNF469 were set to ",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:32:22.124481+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1601",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: DHCR24 as ready",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:32:22.112318+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1601",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dhcr24 has been classified as Green List (High Evidence).",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:32:05.247893+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1601",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: DHCR24 were set to ",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:31:14.165129+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1600",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: DNAAF4 as ready",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:31:14.161921+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1600",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis.",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:31:14.124022+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1600",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dnaaf4 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:31:01.183036+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1600",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag cnv tag was added to gene: DNAAF4.",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:29:01.044397+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1600",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: DNAAF4 were set to PMID: 20301301; 23872636",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:28:59.192281+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1599",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: DNAAF4 were set to ",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2025-03-20T13:23:11.058189+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1598",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: Characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.\r\nDescribed in >10 unrelated families\r\nKnockout mouse model PMID: 20089971\r\nDeep intronic variants have been described PMID: 34057271, 34014608; to: ACG1A: Characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.\r\nDescribed in >10 unrelated families\r\nKnockout mouse model PMID: 20089971\r\nDeep intronic variants have been described PMID: 34057271, 34014608\r\n\r\nOdontochondrodysplasia 1: non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imperfecta. Variable severity.\r\n\r\nNull mutations of TRIP11 lead to ACG1A, while splicing/hypomorphic mutations cause ODCD (PMID: 34111908, 30728324). ",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2025-03-20T13:17:23.112599+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1598",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: Ciliopathy\r\n26518474: one patient with bilateral postaxial polydactyly in hands and feet, multiple tongue cysts, and several facial dysmorphic features including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Mutation was del Phe106.\r\n26595381: one patient with OFD had homozygous missense variant, another patient with Joubert syndrome comp het for del Phe106 and a frameshift deletion.\r\n26123494: Meckel–Gruber syndrome cases in this paper were defined on the basis of occipital encephalocele, perinatal lethality and either polydactyly or polycystic kidneys. Two individuals had a homozygous p.Ser92Cysfs*7 variant were identified.\r\n\r\nUnclear if we should also be reporting other phenotypes: ?Joubert syndrome 29/Meckel syndrome 13, MIM #617562; to: Ciliopathy\r\n26518474: one patient with bilateral postaxial polydactyly in hands and feet, multiple tongue cysts, and several facial dysmorphic features including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Mutation was del Phe106.\r\n26595381: one patient with OFD had homozygous missense variant, another patient with Joubert syndrome comp het for del Phe106 and a frameshift deletion.\r\n26123494: Meckel–Gruber syndrome cases in this paper were defined on the basis of occipital encephalocele, perinatal lethality and either polydactyly or polycystic kidneys. Two individuals had a homozygous p.Ser92Cysfs*7 variant identified.\r\n\r\nOMIM denotes with a ? that for Joubert syndrome 29, MIM #617562, it indicates that the relationship between the phenotype and gene is provisional.",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2025-03-20T13:14:20.712143+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1598",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "edited their review of gene: TMEM107: Changed phenotypes: Orofaciodigital syndrome XVI, MIM #617563, Meckel syndrome 13, MIM #617562, ?Joubert syndrome 29, MIM #617562",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:46:04.830109+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFE2L2 as ready",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:46:04.819462+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfe2l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:46:01.413515+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFE2L2 as Amber List (moderate evidence)",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:46:01.401447+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfe2l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:43:36.196822+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFE2L2 was added\ngene: NFE2L2 was added to Congenital Heart Defect. Sources: Expert Review\nMode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFE2L2 were set to 29018201\nPhenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744\nReview for gene: NFE2L2 was set to AMBER\nAdded comment: CHD in two of the four affected individuals reported in the literature. \nSources: Expert Review",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:40:51.757354+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2C were changed from Kleefstra syndrome 2, MIM#\t617768 to Kleefstra syndrome 2, MIM# 617768; Neurodevelopmental disorder, MONDO:0700092, KMT2C-related",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:40:19.890441+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KMT2C: Added comment: Features not typical of Kleefstra syndrome and suggestion to rename condition to a broader NDD.; Changed phenotypes: Kleefstra syndrome 2, MIM# 617768, Neurodevelopmental disorder, MONDO:0700092, KMT2C-related",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:39:36.014467+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2C were changed from Kleefstra syndrome 2, MIM#617768 to Kleefstra syndrome 2, MIM#617768; Neurodevelopmental disorder, MONDO:0700092, KMT2C-related",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:39:09.729601+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2C were set to ",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:38:41.756136+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KMT2C: Added comment: Additional report of >80 individuals suggesting condition is distinct from Kleefstra syndrome and needs to be renamed.; Changed publications: 39013459; Changed phenotypes: Kleefstra syndrome 2, MIM#617768, Neurodevelopmental disorder, MONDO:0700092, KMT2C-related",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:38:16.473444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2C were set to ",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:37:33.763244+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2C were changed from Kleefstra syndrome 2, MIM#617768 to Kleefstra syndrome 2, MIM#617768; Neurodevelopmental disorder, MONDO:0700092, KMT2C-related",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:37:14.325921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 39013459; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KMT2C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:25:30.471764+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHI1 were changed from Joubert syndrome 3 MIM#608629 to Joubert syndrome 3 MIM#608629; Retinitis pigmentosa",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:25:16.642450+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHI1 were set to 16155189; 20301500",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:24:59.901635+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28442542; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:21:51.487281+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPNPEP3 as ready",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:21:51.482615+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: For upgrade Green.",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:21:51.449062+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:21:38.775327+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: XPNPEP3.",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:14:03.747833+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TTN.",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2025-03-20T12:00:01.958514+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: RP involves progressive retinal degeneration, symptoms include night blindness, development of tunnel vision, and slowly progressive decreased central vision.; to: RP involves progressive retinal degeneration, symptoms include night blindness, development of tunnel vision, and slowly progressive decreased central vision. Onset usually in first decade of life.",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2025-03-20T11:57:03.574591+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: Characterised by intellectual disability with additional clinical features ranging from ASD, macrocephaly, seizures and/or early-onset parkinsonism.\r\nOne family had ~45kb deletion encompassing RAB39B gene and the last three coding exons of CLIC2 (PMID 25434005).\r\n\r\nUnsure if Waisman syndrome\t311510 is a distinct phenotype that should be reported, causes ID and Parkinson's (some juvenile PD).; to: Intellectual developmental disorder, X-linked 72; Characterised by intellectual disability with additional clinical features ranging from ASD, macrocephaly, seizures and/or early-onset parkinsonism.\r\nOne family had ~45kb deletion encompassing RAB39B gene and the last three coding exons of CLIC2 (PMID 25434005).\r\n\r\nWaisman syndrome: neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (some juvenile PD).",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2025-03-20T11:55:29.195717+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "edited their review of gene: RAB39B: Changed phenotypes: Intellectual developmental disorder, X-linked 72, MIM #300271, Waisman syndrome, MIM #311510",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2025-03-20T11:53:05.155838+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "edited their review of gene: PSAP: Changed phenotypes: Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900, Combined SAP deficiency, MIM #611721, Gaucher disease, atypical, MIM #610539, Krabbe disease, atypical, MIM #611722",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2025-03-20T11:47:48.679933+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.\r\n~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.\r\nHomozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.\r\n\r\nOther phenotypes:\r\nPeroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant? \r\n\r\nHeimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000? See PMID: 26387595.; to: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.\r\n~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.\r\nHomozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.\r\n\r\nOther phenotypes:\r\nPeroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant? \r\n\r\nHeimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000? See PMID: 26387595.\r\n\r\nMONDO:0100259 - Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2025-03-20T11:47:10.611617+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "edited their review of gene: PEX1: Changed phenotypes: Peroxisome biogenesis disorder 1A (Zellweger), MIM #214100, Heimler syndrome 1, MIM #234580, Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, MONDO:0100259",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2025-03-20T11:41:15.470346+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.\r\n~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.\r\nHomozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.\r\n\r\nOther phenotypes:\r\nPeroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant? Should this phenotype be included for P1000?\r\n\r\nHeimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000. See PMID: 26387595.; to: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.\r\n~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.\r\nHomozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.\r\n\r\nOther phenotypes:\r\nPeroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant? \r\n\r\nHeimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000? See PMID: 26387595.",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2025-03-20T11:40:18.816097+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "edited their review of gene: PEX1: Changed phenotypes: Peroxisome biogenesis disorder 1A (Zellweger), MIM #214100, Heimler syndrome 1, MIM #234580, Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2025-03-20T11:34:37.889202+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "edited their review of gene: LARGE1: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, MIM #608840",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2025-03-20T11:33:53.930542+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: Condition includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), involves characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. Described in >4 unrelated families.\r\nIntragenic deletions have been reported (PMID: 17436019), as has an intragenic insertion/deletion (PMID: 21248746)\r\n\r\nShould other phenotype for this gene be included? Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, MIM #608840, causes muscle weakness, brain abnormalities, and intellectual disability but does not affect the eyes. Phenotype described in Mendeliome.; to: Muscular dystrophy with impaired intellectual development and structural brain abnormalities type A, 6, MIM #613154: Condition includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), involves characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. Described in >4 unrelated families.\r\nIntragenic deletions have been reported (PMID: 17436019), as has an intragenic insertion/deletion (PMID: 21248746)\r\n\r\nMuscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, MIM #608840: \r\n causes muscle weakness, structural brain abnormalities, and intellectual disability. ",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2025-03-19T19:36:37.397020+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYH3 as ready",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2025-03-19T19:36:37.389720+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myh3 has been classified as Green List (High Evidence).",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2025-03-19T19:36:17.268892+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYH3 as Green List (high evidence)",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2025-03-19T19:36:17.258306+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myh3 has been classified as Green List (High Evidence).",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2025-03-19T19:35:40.071278+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.306",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYH3 was added\ngene: MYH3 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: MYH3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYH3 were set to 16642020; 29805041\nPhenotypes for gene: MYH3 were set to Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469\nReview for gene: MYH3 was set to GREEN\ngene: MYH3 was marked as current diagnostic\nAdded comment: Skeletal dysplasias are part of the spectrum MYH3-related conditions. \nSources: Literature",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2025-03-19T18:35:54.501452+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUPT7L were changed from lipodystrophy, MONDO:0006573, SUPT7L-related to Fischer-Zirnsak progeroid syndrome, MIM# 621130",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2025-03-19T18:35:17.011164+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUPT7L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fischer-Zirnsak progeroid syndrome, MIM# 621130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2025-03-19T18:34:53.341561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUPT7L were changed from Lipodystrophy, MONDO:0006573, SUPT7L-related to Fischer-Zirnsak progeroid syndrome, MIM# 621130",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2025-03-19T18:34:31.819780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUPT7L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fischer-Zirnsak progeroid syndrome, MIM# 621130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUPT7L",
"entity_type": "gene"
},
{
"created": "2025-03-18T14:49:17.755582+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTGF as ready",
"entity_name": "CTGF",
"entity_type": "gene"
},
{
"created": "2025-03-18T14:49:17.737118+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctgf has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTGF",
"entity_type": "gene"
},
{
"created": "2025-03-18T14:49:12.508146+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTGF as Amber List (moderate evidence)",
"entity_name": "CTGF",
"entity_type": "gene"
},
{
"created": "2025-03-18T14:49:12.495044+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctgf has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTGF",
"entity_type": "gene"
},
{
"created": "2025-03-18T14:49:02.724702+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTGF was added\ngene: CTGF was added to Fetal anomalies. Sources: Literature\nnew gene name tags were added to gene: CTGF.\nMode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTGF were set to 39506047\nPhenotypes for gene: CTGF were set to Kyphomelic dysplasia\nReview for gene: CTGF was set to AMBER\nAdded comment: CCN2 is the new HGNC approved name.\r\n\r\nPMID: 39506047\r\nThree individuals from two unrelated consanguineous families presented with short stature, facial dysmorphism and kyphomelic skeletal dysplasia.\r\n\r\nA rare missense variant in family 1 (Cys148Tyr) and novel frameshift variant (Pro260LeufsTer7) in family 2 was identified in homozygous state.\r\nZebrafish model was also conducted that showed altered body curvature and impaired cartilage formation in craniofacial region resulting in either bent or missing tails.\r\n\r\nA missense variant c.443G>A; p.(Cys148Tyr) in exon 3 and a frameshift variant, c.779_786del; p.(Pro260LeufsTer7) in exon 5. \nSources: Literature",
"entity_name": "CTGF",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:27:25.636007+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: DNAJC21 as ready",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:27:25.625421+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dnajc21 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:27:19.637747+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1596",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: DNAJC21 were set to ",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:26:40.029640+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1595",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: DNAJC6 as ready",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:26:40.022273+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1595",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dnajc6 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:24:57.135778+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1595",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: DNAJC6 were set to ",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:24:13.337383+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1594",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: DYNC2H1 as ready",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:24:13.329548+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1594",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dync2h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:24:08.293878+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1594",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: DYNC2H1 were set to ",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:23:20.065813+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1593",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: EIF2AK4 as ready",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:23:20.057104+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1593",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Downgrade to orange, onset is usually not until adulthood, teenage onset reported but usually 20's or later",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:23:20.034088+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1593",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: eif2ak4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:22:40.077316+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1593",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: EIF2AK4 were set to ",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:09:45.985388+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1592",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GAA as ready",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:09:45.978759+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1592",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gaa has been classified as Green List (High Evidence).",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:09:41.878766+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1592",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: GAA were changed from Glycogen storage disease II, 232300 (3) to Glycogen storage disease II (Pompe disease), 232300",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:08:57.935308+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1591",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GAA were set to ",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:08:17.879487+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1590",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GJC2 as ready",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:08:17.872597+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1590",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gjc2 has been classified as Green List (High Evidence).",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:07:31.203429+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1590",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GJC2 were set to ",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:06:37.695428+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1589",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GPR179 as ready",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:06:37.692248+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1589",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Orange or red at time of review, phenotype is not severe, non progressive visual impairment in low light only.",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:06:37.664259+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1589",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gpr179 has been classified as Green List (High Evidence).",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:06:13.188341+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1589",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: GPR179 were changed from Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3) to GPR179-related retinopathy (MONDO:0800396)",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2025-03-18T12:05:50.519285+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1588",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GPR179 were set to ",
"entity_name": "GPR179",
"entity_type": "gene"
}
]
}