HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=288",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=286",
"results": [
{
"created": "2025-03-11T14:46:54.006140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1549 as ready",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:46:53.993821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1549 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:46:41.357180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA1549 as Green List (high evidence)",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:46:41.347269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1549 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:45:07.998575+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23872636; Phenotypes: Ciliary dyskinesia, primary, 25, MIM#615482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2025-03-11T13:45:28.224392+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 33524375, 21671375, 12457401, 29175559, 21559050, 29175559, 11519011, 24961299; Phenotypes: Desmosterolosis, MIM#602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-03-10T11:44:02.686477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2363",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KIAA1549 was added\ngene: KIAA1549 was added to Mendeliome. Sources: ClinGen\nMode of inheritance for gene: KIAA1549 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1549 were set to 30120214; 34027671\nPhenotypes for gene: KIAA1549 were set to retinitis pigmentosa 86 MONDO:0032834\nReview for gene: KIAA1549 was set to GREEN\nAdded comment: Classified as STRONG by ClinGen Retina GCEP on 18/02/2025 - https://search.clinicalgenome.org/CCID:008708\r\n\r\nReported in 5 probands with RP - Green according to PanelApp \nSources: ClinGen",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2025-03-10T11:33:42.821714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2363",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: IFT74: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia, MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2025-03-07T18:02:33.181386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2363",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 34618440; Phenotypes: hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-07T17:07:29.316997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2363",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital myopathy MONDO:0019952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2025-03-07T16:56:18.828360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2363",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DEF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: immunodeficiency 87 and autoimmunity MONDO:0030457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2025-03-07T16:04:34.072720+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: None; Publications: 33739556, 37098112, 31496642, 18452888; Phenotypes: Brittle cornea syndrome 1, 229200, (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2025-03-07T13:21:24.634315+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "changed review comment from: Strong gene disease association.; to: Strong gene disease association. Severe DNA repair disorder, early childhood onset. Characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer. Can cause premature death. ",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2025-03-07T13:18:34.894090+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26255934, 8298653; Phenotypes: Xeroderma pigmentosum, group C, 278720 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2025-03-07T13:15:08.805797+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205863, 29514627, 32303682; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, 613988 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:40:24.673156+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELF4 were changed from Inflammatory bowel disease to Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:40:00.950387+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074); Mode of inheritance: None",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:38:56.882654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELF4 as ready",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:38:56.871751+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elf4 has been classified as Green List (High Evidence).",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:36:23.508893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A25 as ready",
"entity_name": "SLC25A25",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:36:23.501701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a25 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A25",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:35:37.620862+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A25 was added\ngene: SLC25A25 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC25A25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC25A25 were set to 34346195\nPhenotypes for gene: SLC25A25 were set to Nephrolithiasis MONDO:0008171,SLC25A25 related\nPenetrance for gene: SLC25A25 were set to Incomplete\nReview for gene: SLC25A25 was set to RED\nAdded comment: SLC25A25 encodes mitochondrial ATP-Mg/Pi carrier 3\r\n\r\nA single missense variant was reported in 2 families with renal stones in 2021 by Jabalameli et al (PMID: 3436195).\r\nIn family 1 there was 4 affected individuals who shared the same heterozygous variant NM_001330988.2 c.1083G>C|p.Gln361His, however this variant was also seen in 7 individuals in the family without stones\r\nIn family 2 there were 7 affected individuals who also had p.Gln361His however this variant was also seen in 3 family members without stones.\r\n\r\nThis variant is located within the mitochondrial carrier domain and functional studies were performed looking at uptake of radioactive ATP compared to wild type. These studies demonstrated the variant protein had approximately 21% activity compared to wild type.\r\n\r\nThe variant was proposed to have incomplete penetrance and it should be noted there is 4352 heterozygotes in gnomad 4.\r\n\r\nAt this time there is insufficient evidence for a gene disease association between SLC25A25 and nephrolithiasis. \nSources: Literature",
"entity_name": "SLC25A25",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:31:19.704961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2362",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ELF4 as Green List (high evidence)",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:31:19.698216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2362",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: elf4 has been classified as Green List (High Evidence).",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:28:51.559586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2360",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELF4 was added\ngene: ELF4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ELF4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ELF4 were set to 38231408\nPhenotypes for gene: ELF4 were set to autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MONDO:0024770",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:23:59.737382+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ELF4 as ready",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:23:59.725705+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: elf4 has been classified as Green List (High Evidence).",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:23:20.249624+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ELF4 as Green List (high evidence)",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2025-03-07T11:23:20.239027+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: elf4 has been classified as Green List (High Evidence).",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2025-03-07T10:56:21.520865+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A25 as ready",
"entity_name": "SLC25A25",
"entity_type": "gene"
},
{
"created": "2025-03-07T10:56:21.513940+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a25 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A25",
"entity_type": "gene"
},
{
"created": "2025-03-07T10:56:17.180984+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A25 as Red List (low evidence)",
"entity_name": "SLC25A25",
"entity_type": "gene"
},
{
"created": "2025-03-07T10:56:17.167976+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a25 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A25",
"entity_type": "gene"
},
{
"created": "2025-03-07T10:51:50.635589+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.17",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: SLC25A25 was added\ngene: SLC25A25 was added to Renal Tubulopathies and related disorders. Sources: Literature\nMode of inheritance for gene: SLC25A25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC25A25 were set to 34346195\nPhenotypes for gene: SLC25A25 were set to Nephrolithiasis MONDO:0008171,SLC25A25 related\nPenetrance for gene: SLC25A25 were set to Incomplete\nReview for gene: SLC25A25 was set to RED\nAdded comment: SLC25A25 encodes mitochondrial ATP-Mg/Pi carrier 3\r\n\r\nA single missense variant was reported in 2 families with renal stones in 2021 by Jabalameli et al (PMID: 3436195). \r\nIn family 1 there was 4 affected individuals who shared the same heterozygous variant NM_001330988.2 c.1083G>C|p.Gln361His, however this variant was also seen in 7 individuals in the family without stones \r\nIn family 2 there were 7 affected individuals who also had p.Gln361His however this variant was also seen in 3 family members without stones. \r\n\r\nThis variant is located within the mitochondrial carrier domain and functional studies were performed looking at uptake of radioactive ATP compared to wild type. These studies demonstrated the variant protein had approximately 21% activity compared to wild type. \r\n\r\nThe variant was proposed to have incomplete penetrance and it should be noted there is 4352 heterozygotes in gnomad 4.\r\n\r\nAt this time there is insufficient evidence for a gene disease association between SLC25A25 and nephrolithiasis. \nSources: Literature",
"entity_name": "SLC25A25",
"entity_type": "gene"
},
{
"created": "2025-03-07T10:06:11.925161+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234460, 19064721; Phenotypes: Leukocyte adhesion deficiency, type III, MIM# 612840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2025-03-07T10:04:51.479445+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency, MIM# 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2025-03-07T10:01:25.385073+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2025-03-07T09:59:10.970333+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16951682, 21911699, 23998934, 22749724; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2025-03-07T09:56:33.131101+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 8253378, 1401056, 8364576, 8318997, 25681080; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2025-03-07T09:45:19.930104+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:53:21.904386+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: AFG3L2 were set to 22022284; 25401298; 20208537; 20725928; 33075064; 32248051; 30910913",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:37:08.659526+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ATP6V1A as Green List (high evidence)",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:37:08.636509+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: atp6v1a has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:36:54.924741+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ATP6V1A as Green List (high evidence)",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:36:54.913420+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: atp6v1a has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:36:40.495579+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ATP6V1A as Green List (high evidence)",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:36:40.483502+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: atp6v1a has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:31:09.757685+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2359",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: ATP5A1 were set to 23599390",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:08:38.537614+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145747, 17444505, 3975875, 24105469, 24395473, 25772186, 26392295, 26581302, 27796757, 28040389, 29575618, 29691892, 31660661; Phenotypes: TTN-related myopathy MONDO:0100175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:01:50.221365+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:01:12.171875+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.44",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:00:26.633560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2358",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2025-03-06T17:00:04.766962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2357",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2025-03-06T16:59:34.244105+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2025-03-06T16:57:35.534930+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: None; Publications: 12590260, 15024727, 17285242, 24156255, 26040326, 27604308; Phenotypes: Imerslund-Grasbeck syndrome 2 MIM#618882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2025-03-06T16:40:11.324736+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37656279, 29474921, 38325642; Phenotypes: Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510, Viral infections of the brainstem, Ichthyosis (MONDO#0019269); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2025-03-06T16:11:59.929132+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086, 33188300, 33634263, 33970200, 18853439; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026, Spastic paraplegia 83, autosomal recessive MIM#619027, Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2025-03-06T15:57:07.825470+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36291443, 31709768, 19710327, 23148524, 28218389, 33901312; Phenotypes: Developmental and epileptic encephalopathy 52 MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:49:22.143840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A6 were changed from Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278 to Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243; Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:48:58.701666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC9A6 were set to 18342287; 19377476; 25044251; 33278113; 32569089; 31879735",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:48:39.248511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC9A6: Added comment: Multiple female carriers reported with adult-onset neurological phenotypes including neurodegerative disease and Parkinsonism. Some had affected sons with ID. Uncertain whether this is a separate entity or manifestation in female carriers of a XL condition.; Changed publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735, 35198730, 39810750, 35198730, 31192222; Changed phenotypes: Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243, Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:47:13.981710+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A6 as ready",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:47:13.974997+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:46:49.352065+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A6 as Green List (high evidence)",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:46:49.342604+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:46:19.844005+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A6 was added\ngene: SLC9A6 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: SLC9A6 were set to 35198730; 39810750; 35198730; 31192222\nPhenotypes for gene: SLC9A6 were set to Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142\nReview for gene: SLC9A6 was set to GREEN\nAdded comment: Multiple female carriers reported with adult-onset neurological phenotypes including neurodegerative disease and Parkinsonism. Some had affected sons with ID. Uncertain whether this is a separate entity or manifestation in female carriers of a XL condition. \nSources: Literature",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:45:31.570068+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC9A6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:44:59.943627+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC9A6: Changed phenotypes: Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:44:11.605450+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A6 as ready",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:44:11.592842+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:44:05.775513+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A6 as Green List (high evidence)",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:44:05.768684+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:43:35.052361+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A6 was added\ngene: SLC9A6 was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLC9A6 were set to 35198730; 39810750; 35198730; 31192222\nPhenotypes for gene: SLC9A6 were set to Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM#\t301142\nReview for gene: SLC9A6 was set to GREEN\nAdded comment: Multiple female carriers reported with adult-onset neurological phenotypes including neurodegerative disease and Parkinsonism. Some had affected sons with ID. Uncertain whether this is a separate entity or manifestation in female carriers of a XL condition. \nSources: Literature",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:31:57.052618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP47 were changed from Spermatogenic failure, X-linked, 3, MIM# 301059; asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF) to Spermatogenic failure, X-linked, 3, MIM# 301059; Cystic kidney disease MONDO:0002473",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-03-06T14:31:23.833381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP47 were set to PMID: 33472045",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-03-06T13:35:12.046543+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20507924, 9624053, 15015129, 20301515, 36041150, 34331125; Phenotypes: Usher syndrome, type 2A, 276901 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2025-03-06T13:25:13.131646+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, 617899 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2025-03-06T12:10:21.505169+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SMPD1 as ready",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2025-03-06T12:10:21.498074+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: smpd1 has been classified as Green List (High Evidence).",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2025-03-06T12:10:18.166623+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A, 257200 (3) to Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type B, 607616",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2025-03-06T12:09:54.522314+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1567",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SMPD1 were set to ",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2025-03-06T12:08:17.931505+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PTPN23 as ready",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2025-03-06T12:08:17.926547+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: UPGRADE TO GREEN",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2025-03-06T12:08:17.884670+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ptpn23 has been classified as Red List (Low Evidence).",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2025-03-06T11:54:15.704472+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9924029; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2025-03-06T11:53:42.388118+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: BAG3: Added comment: PMID: 37907725\r\n7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed.\r\n\r\nPMID: 31853710\r\n2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.\r\n\r\nPMID: 30145633\r\n1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed.\r\n\r\nPMID: 28754666\r\n9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.; Changed publications: PMID: 37907725, 31853710, 30145633, 28754666",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2025-03-06T11:53:38.963033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2352",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37907725, 31853710, 30145633, 28754666; Phenotypes: Neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015362, Charcot-Marie-Tooth disease type 2 MONDO: 0018993; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2025-03-06T11:52:16.378917+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2025-03-06T11:51:58.470372+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: PMID: 37907725\r\n7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed.\r\n\r\nPMID: 31853710\r\n2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.\r\n\r\nPMID: 30145633\r\n1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed.\r\n\r\nPMID: 28754666\r\n9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.; to: PMID: 37907725\r\n7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed.\r\n\r\nPMID: 31853710\r\n2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.\r\n\r\nPMID: 30145633\r\n1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed.\r\n\r\nPMID: 28754666\r\n9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2025-03-06T11:51:24.427269+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37907725, PMID: 31853710; Phenotypes: Neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015362, Charcot-Marie-Tooth disease type 2 MONDO: 0018993; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2025-03-06T11:03:31.095701+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.79",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PPP2R5E was added\ngene: PPP2R5E was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PPP2R5E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP2R5E were set to PMID: 39284558\nPhenotypes for gene: PPP2R5E were set to Mendelian neurodevelopmental disorder MONDO:0100500\nReview for gene: PPP2R5E was set to RED\nAdded comment: One 20yrs old individual with learning issues, motor coordination disorders, hypotonia (myopathy on EMG), and behavioural issues (mood and emotional dysregulation). WES testing identified a de novo heterozygous missense variant (Glu191Lys) in PPP2R5E gene. The variant was not found in the 4 healthy brothers of the individual. The variant is located within a conserved LFDSEDPRER motif common to all PPP2R5 B-subunits. Biochemical assays demonstrated a decreased interaction with the PP2A A and C subunits, leading to disturbances in holoenzyme formation.\r\n\r\nProtein phosphatase 2A (PP2A) is a family of multifunctional enzymatic complexes crucial for cellular signalling, playing a pivotal role in brain function and development. Mutations in specific genes encoding PP2A complexes have been associated with neurodevelopmental disorders with hypotonia and high risk of seizures (e.g. PP2AR-1A, 2B, 3C, 5C, 5D). \nSources: Literature",
"entity_name": "PPP2R5E",
"entity_type": "gene"
},
{
"created": "2025-03-06T11:03:22.674357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2352",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PPP2R5E was added\ngene: PPP2R5E was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPP2R5E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP2R5E were set to PMID: 39284558\nPhenotypes for gene: PPP2R5E were set to Mendelian neurodevelopmental disorder MONDO:0100500\nReview for gene: PPP2R5E was set to RED\nAdded comment: One 20yrs old individual with learning issues, motor coordination disorders, hypotonia (myopathy on EMG), and behavioural issues (mood and emotional dysregulation). WES testing identified a de novo heterozygous missense variant (Glu191Lys) in PPP2R5E gene. The variant was not found in the 4 healthy brothers of the individual. The variant is located within a conserved LFDSEDPRER motif common to all PPP2R5 B-subunits. Biochemical assays demonstrated a decreased interaction with the PP2A A and C subunits, leading to disturbances in holoenzyme formation.\r\n\r\nProtein phosphatase 2A (PP2A) is a family of multifunctional enzymatic complexes crucial for cellular signalling, playing a pivotal role in brain function and development. Mutations in specific genes encoding PP2A complexes have been associated with neurodevelopmental disorders with hypotonia and high risk of seizures (e.g. PP2AR-1A, 2B, 3C, 5C, 5D). \nSources: Literature",
"entity_name": "PPP2R5E",
"entity_type": "gene"
},
{
"created": "2025-03-06T10:48:39.566463+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.79",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: 3 individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts or any family history of cystic kidney disease.\r\n\r\nWGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased.\r\n\r\nCFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation. \nSources: Literature; to: 3 Japanese individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts, infertility, or any family history of cystic kidney disease.\r\n\r\nWGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased.\r\n\r\nCFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation. \r\nSources: Literature",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-03-06T10:48:16.019604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2351",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: 3 individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts or any family history of cystic kidney disease. WGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased. CFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation.; to: 3 Japanese individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts, infertility, or any family history of cystic kidney disease. WGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased. CFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation.",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-03-06T10:47:42.184842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2351",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CFAP47: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39698362; Phenotypes: Cystic kidney disease MONDO:0002473; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-03-06T10:45:01.696245+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.79",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CFAP47 as Amber List (moderate evidence)",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-03-06T10:45:01.688125+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.79",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cfap47 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-03-06T10:44:32.457439+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.78",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CFAP47 was added\ngene: CFAP47 was added to Renal Macrocystic Disease. Sources: Literature\nMode of inheritance for gene: CFAP47 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CFAP47 were set to PMID: 39698362\nPhenotypes for gene: CFAP47 were set to Cystic kidney disease MONDO:0002473\nReview for gene: CFAP47 was set to AMBER\nAdded comment: 3 individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts or any family history of cystic kidney disease.\r\n\r\nWGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased.\r\n\r\nCFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation. \nSources: Literature",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2025-03-05T17:46:55.467721+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675, 22152675; Phenotypes: Joubert syndrome 14, 614424 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2025-03-05T17:43:03.900744+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: None; Publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Phenotypes: Joubert syndrome 20, 614970, (3), Meckel syndrome 11, 615397 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM231",
"entity_type": "gene"
}
]
}