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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=873",
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"results": [
{
"created": "2022-04-25T15:08:44.914991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27291868, 21054159, 17997709, 17404618; Phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T11:42:52.737063+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.16",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23798057, 23798057, 23798057, 25789548, 22448264; Phenotypes: Ciliary dyskinesia, primary, 11 OMIM#612649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-04-25T11:42:16.736926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13263",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "edited their review of gene: RSPH4A: Changed publications: 23798057, 23798057, 23798057, 25789548, 22448264",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-04-25T11:41:47.239002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13263",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: Radial spokes are regularly spaced along cilia, sperm, and flagella axonemes and have a multisubunit 'stalk' and 'head' that form a signal transduction scaffold between the central microtubule pair and dynein arms. RSPH4A is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates (Castleman et al., 2009; PMID19200523)\r\n\r\n9 families with primary ciliary dyskinesia without situs inversus (Kott et al. 2013 (PMID:23993197), Castleman et al., 2009 (PMID19200523) and Daniels et al. 2013; (PMID:23798057)):\r\n- In affected members of 4 Pakistani families with CILD11, Castleman et al. (2009) identified a homozygous mutation in the RSPH4A gene. \r\n- In affected members of a family of northern European descent with CILD11, Castleman et al. (2009) identified compound heterozygosity for 2 mutations in the RSPH4A gene\r\n- Kott et al. (2013) identified pathogenic mutations in the RSPH4A gene in 7 (14%) of 48 families with a specific CILD.\r\n\r\nCommon founder mutation:\r\n- Daniels et al. (2013) identified a common founder mutation in the RSPH4A gene in 9 patients with CILD11, all of whom had Puerto Rican ancestry.\r\n\r\nMultiple individuals in ClinVar with primary ciliary dyskinesia; to: Radial spokes are regularly spaced along cilia, sperm, and flagella axonemes and have a multisubunit 'stalk' and 'head' that form a signal transduction scaffold between the central microtubule pair and dynein arms. RSPH4A is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates (Castleman et al., 2009; PMID19200523)\r\n\r\n9 families with primary ciliary dyskinesia without situs inversus (Kott et al. 2013 (PMID:23993197), Castleman et al., 2009 (PMID19200523) and Daniels et al. 2013; (PMID:23798057)):\r\n- In affected members of 4 Pakistani families with CILD11, Castleman et al. (2009) identified a homozygous mutation in the RSPH4A gene. \r\n- In affected members of a family of northern European descent with CILD11, Castleman et al. (2009) identified compound heterozygosity for 2 mutations in the RSPH4A gene\r\n- Kott et al. (2013) identified pathogenic mutations in the RSPH4A gene in 7 (14%) of 48 families with a specific CILD.\r\n\r\nCommon founder mutation:\r\n- Daniels et al. (2013) identified a common founder mutation in the RSPH4A gene in 9 patients with CILD11, all of whom had Puerto Rican ancestry.\r\n\r\nMultiple individuals in ClinVar with primary ciliary dyskinesia\r\n\r\nPMID: 25789548; Frommer 2015: 8 PCD families reported, only 4 different variants identified. Functional studies performed.\r\n\r\nPMID: 22448264; Ziętkiewicz 2012: 4 additional families/variants reported.",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-04-25T11:35:50.856171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13263",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23798057, 23798057, 23798057; Phenotypes: Ciliary dyskinesia, primary, 11 OMIM#612649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-04-25T11:13:12.067634+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.16",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22384920, 23993197, 19200523, 27626380; Phenotypes: Ciliary dyskinesia, primary, 12 MIM#612650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-04-25T11:11:32.901472+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13263",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22384920, 23993197, 19200523, 27626380; Phenotypes: Ciliary dyskinesia, primary, 12 MIM#612650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-04-24T19:02:09.744339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLN as ready",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2022-04-24T19:02:09.731515+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pln has been classified as Green List (High Evidence).",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2022-04-24T19:02:01.700733+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P, MIM# 609909; Cardiomyopathy, hypertrophic, 18 (MIM #613874)",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2022-04-24T19:01:42.319404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLN were set to ",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2022-04-24T19:01:23.609903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2022-04-24T19:00:40.936474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1P, MIM# 609909, Cardiomyopathy, hypertrophic, 18 (MIM #613874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:58:43.925093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLOD1: Changed phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:58:29.775708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD1 as ready",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:58:29.763710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod1 has been classified as Green List (High Evidence).",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:58:20.810873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD1 were changed from to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM## 225400",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:57:51.486449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLOD1 were set to ",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:57:29.881464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLOD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:57:11.208859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306225; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1.<O<# 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:55:54.158893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD2 as ready",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:55:54.148352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod2 has been classified as Green List (High Evidence).",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:55:45.952276+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD2 were changed from to Bruck syndrome 2, MIM# 609220",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:55:26.142015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLOD2 were set to ",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:55:02.672546+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLOD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:54:42.830189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2, MIM# 609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:52:15.481880+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMPCA as ready",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:52:15.467057+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmpca has been classified as Green List (High Evidence).",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:51:41.052339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMFBP1 as ready",
"entity_name": "PMFBP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:51:41.041328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmfbp1 has been classified as Green List (High Evidence).",
"entity_name": "PMFBP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:51:19.289148+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMFBP1 were changed from to Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394",
"entity_name": "PMFBP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:50:51.906226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMFBP1 were set to ",
"entity_name": "PMFBP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:34:55.651645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMFBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMFBP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:34:37.316785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PMFBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33484382, 33452591, 32285443; Phenotypes: Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMFBP1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:30:17.839974+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMPCA were changed from Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:30:09.252371+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMPCA were changed from Autosomal recessive spinocerebellar ataxia 2, 213200 to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:30:07.263550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMPCA as ready",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:30:07.250086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmpca has been classified as Green List (High Evidence).",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:29:51.647966+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMPCA were set to ",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:29:25.694897+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:29:14.931487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMPCA were changed from to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:28:59.126643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMPCA were set to ",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:28:38.459001+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMPCA were changed from Autosomal recessive spinocerebellar ataxia 2, 213200; Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. to Autosomal recessive spinocerebellar ataxia 2, 213200",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:28:07.497480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMPCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:27:44.685087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:25:01.211298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMPCB as ready",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:25:01.177491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmpcb has been classified as Green List (High Evidence).",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:24:52.918889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMPCB were changed from to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:24:29.712433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMPCB were set to ",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:24:10.820576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMPCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:23:50.885587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive disorder, includes ataxia. Four unrelated families reported.; to: Progressive disorder. Four unrelated families reported.",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:23:01.315296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPO as ready",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:23:01.303659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpo has been classified as Green List (High Evidence).",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:22:53.301003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:22:33.052544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPO were set to ",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:22:09.151068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:21:45.429374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 34769443, 33981986, 33748042, 32888189; Phenotypes: Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:16:03.548388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PODXL as ready",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:16:03.537504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: podxl has been classified as Green List (High Evidence).",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:15:55.063948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PODXL were changed from to Nephrotic syndrome, MONDO:0005377, PODXL-related",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:15:33.152120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PODXL were set to ",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:15:09.332925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PODXL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:14:49.480620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PODXL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30523047, 29244787, 28117080, 24048372; Phenotypes: Nephrotic syndrome, MONDO:0005377, PODXL-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:11:57.246958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POFUT1 as ready",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:11:57.233897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pofut1 has been classified as Green List (High Evidence).",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:11:48.471031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POFUT1 were changed from to Dowling-Degos disease 2 (MIM# 615327)",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:11:26.217096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POFUT1 were set to ",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:10:55.740808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POFUT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:08:52.910562+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:08:52.900360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:05:11.027298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450; Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:04:38.870085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLG were set to ",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:04:17.715468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: POLG: Reviewed in PMID 30451971",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:04:04.895008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLG: Changed publications: 30451971",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:03:10.725779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:02:52.484802+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:01:52.394879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:01:52.384207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:01:40.096959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135; Retinitis pigmentosa 76 617123",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:01:20.431798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POMGNT1 were set to ",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:00:58.321162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T18:00:10.267104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550, 26908613, 30961548, 30937090; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135, Retinitis pigmentosa 76 617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:55:18.981962+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT2 as ready",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:55:18.971159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt2 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:55:10.725220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:54:50.502371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POMGNT2 were set to ",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:54:30.694140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:54:13.577332+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMK as ready",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:54:13.567099+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomk has been classified as Green List (High Evidence).",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:54:07.223534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34301702, 27066570, 26060116, 22958903; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:52:22.124017+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:50:51.371979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMK as ready",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:50:51.361753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomk has been classified as Green List (High Evidence).",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:50:45.358410+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POMK were set to ",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:50:17.124172+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:49:44.805109+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:49:40.501106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:49:24.194759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POMK were set to ",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:49:08.227402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-04-24T17:48:22.409204+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAX2 as ready",
"entity_name": "RAX2",
"entity_type": "gene"
}
]
}