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{
"count": 221292,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=680",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=678",
"results": [
{
"created": "2022-12-01T16:21:48.737714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timmdc1 has been classified as Green List (High Evidence).",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:21:15.841518+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TIMMDC1 as Green List (high evidence)",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:21:15.829435+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timmdc1 has been classified as Green List (High Evidence).",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:19:09.475095+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBS as ready",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:19:09.461949+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:19:04.298932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CBS were changed from to Homocystinuria (MIM# 236200)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:18:08.521146+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:17:30.868121+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria (MIM# 236200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:14:33.790512+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCLRE1B as ready",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:14:33.777740+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1b has been classified as Green List (High Evidence).",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:14:30.431832+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCLRE1B were changed from Dyskeratosis congenita, autosomal recessive 8 to Dyskeratosis congenita, autosomal recessive 8, MIM# 620133",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:13:59.798112+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCLRE1B as Green List (high evidence)",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:13:59.786772+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1b has been classified as Green List (High Evidence).",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:12:16.441920+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPC2 as ready",
"entity_name": "MPC2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:12:16.430760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPC2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:12:05.235130+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPC2 as Amber List (moderate evidence)",
"entity_name": "MPC2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:12:05.223553+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPC2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:11:46.257518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPC2 was added\ngene: MPC2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPC2 were set to 36417180\nPhenotypes for gene: MPC2 were set to mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related\nReview for gene: MPC2 was set to AMBER\nAdded comment: Four patients from two unrelated consanguineous families reported with homozygous variants (missense and stop-loss). Siblings from family 1 were diagnosed prenatally with diffuse subcutaneous oedema, cardiomegaly, corpus callosum agenesis, ventriculomegaly and hypoplasia of the cerebellum. Siblings from family 2 had slightly different presentations, which included anoxo-ischemic encephalopathy, isolated dyspnea, neonatal respiratory distress, neonatal jaundice, hypotonia, visual impairment, microcephaly; both siblings had severe delayed psychomotor development. Immunoblot analysis of protein expression in lysates from patient-derived fibroblasts demonstrated reduced MPC1 and MPC2 protein levels. \nSources: Literature",
"entity_name": "MPC2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:11:26.066697+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPC2 as ready",
"entity_name": "MPC2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:11:26.048042+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPC2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:10:15.187567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.529",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:NPC1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-12-01T16:10:09.125305+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5062",
"user_name": "Layla Zhu",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:09:42.917524+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5062",
"user_name": "Layla Zhu",
"item_type": "entity",
"text": "reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29654549; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:09:11.836773+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPC2 as Amber List (moderate evidence)",
"entity_name": "MPC2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:09:11.824752+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPC2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:03:05.412516+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARF3 were changed from Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system to Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:01:46.295007+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARF3 were set to 34346499",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:58:48.948094+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARF3 as Green List (high evidence)",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:58:48.936660+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arf3 has been classified as Green List (High Evidence).",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:57:19.533007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARF3 were set to 34346499",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:56:47.750120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARF3 as Green List (high evidence)",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:56:47.737467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arf3 has been classified as Green List (High Evidence).",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:54:01.201424+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMILIN1 as ready",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:54:01.173634+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emilin1 has been classified as Green List (High Evidence).",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:53:53.112099+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EMILIN1 were set to PMID: 36351433",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:53:16.301997+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31978608, 26462740; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:50:40.701846+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMILIN1 as Green List (high evidence)",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:50:40.690714+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emilin1 has been classified as Green List (High Evidence).",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:43:34.942556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.526",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36349561, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31 MIM#618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:42:28.873000+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.848",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: PMID:36349561 report the same homozygous missense variant p.(Arg137His) was identified in 4 fetuses from 2 families terminated for corpus callosum defects. Autopsies showed global hypotrophy and similar facial dysmorphism with coarse face, microcephaly, and microlissencephaly or gyration delay. All 4 fetuses were diagnosed with complete agenesis of CC. Immunoblot analyses of muscle homogenates revealed a strong reduction in the abundance of the TIMMDC1 protein. There was decreased abundance of complex I subunits in muscle tissue.\r\n\r\nPMID:33278652 reported two siblings from a Dutch family presenting in infancy with hypotonia and respiratory insufficiency and a rapidly progressive and fatal disease course. A muscle biopsy demonstrated complex I deficiency in brother 2. Each was compound het for the NMD-predicted variant p.(Arg129*) and the previously reported recurrent deep intronic variant c.596+2146A>G.\r\n\r\nIn total, 3 variants in 6 families with mitochondrial complex I deficiency have been reported.; to: PMID:36349561 report the same homozygous missense variant p.(Arg137His) was identified in 4 fetuses from 2 families terminated for corpus callosum defects. Autopsies showed global hypotrophy and similar facial dysmorphism with coarse face, microcephaly, and microlissencephaly or gyration delay. All 4 fetuses were diagnosed with complete agenesis of CC. Immunoblot analyses of muscle homogenates revealed a strong reduction in the abundance of the TIMMDC1 protein. There was decreased abundance of complex I subunits in muscle tissue.\r\n\r\nPMID:33278652 reported two siblings from a Dutch family presenting in infancy with hypotonia and respiratory insufficiency and a rapidly progressive and fatal disease course. A muscle biopsy demonstrated complex I deficiency in brother 2. Each was compound het for the NMD-predicted variant p.(Arg129*) and the previously reported recurrent deep intronic variant c.596+2146A>G.\r\n\r\nIn total, 3 variants in 6 families with mitochondrial complex I deficiency have been reported. A deep intronic variant shown to affect splicing is recurrent.",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:42:21.286021+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPRS as ready",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:42:21.274280+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eprs has been classified as Green List (High Evidence).",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:42:06.733068+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.848",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36349561, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31 MIM#618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TIMMDC1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:41:01.183066+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPRS as Green List (high evidence)",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:41:01.171587+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eprs has been classified as Green List (High Evidence).",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:40:38.259643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.526",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: LEMD2 were changed from Marbach-Rustad progeroid syndrome, OMIM# 619322; progeroid disorder to Marbach-Rustad progeroid syndrome, OMIM# 619322; arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587; Cataract 46, juvenile-onset, OMIM# 212500",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:38:29.083724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.525",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: LEMD2 were set to PMID: 30905398",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:37:12.918143+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPRS as ready",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:37:12.906028+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eprs has been classified as Green List (High Evidence).",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:36:16.925887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.524",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: LEMD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:35:14.507986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.523",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: LEMD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31061923, 26788539, 30905398, 36377660; Phenotypes: Marbach-Rustad progeroid syndrome, OMIM# 619322, arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587, Cataract 46, juvenile-onset, OMIM# 212500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:34:12.785795+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.66",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: LEMD2 as ready",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:34:12.772709+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.66",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: lemd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:33:52.541242+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCEAL1 as ready",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:33:52.522473+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tceal1 has been classified as Green List (High Evidence).",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:33:40.804377+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCEAL1 were changed from hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features. to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:32:48.279172+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCEAL1 as Green List (high evidence)",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:32:48.267342+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tceal1 has been classified as Green List (High Evidence).",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:31:12.962880+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCEAL1 as ready",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:31:12.950777+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tceal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:30:43.350580+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCEAL1 were changed from hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features. to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:29:57.599262+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCEAL1 as Amber List (moderate evidence)",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:29:57.588059+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tceal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:29:22.683025+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCEAL1 as ready",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:29:22.671399+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tceal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:29:11.800652+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCEAL1 as Amber List (moderate evidence)",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:29:11.789233+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tceal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:27:31.207583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP54 as ready",
"entity_name": "NUP54",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:27:31.193605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup54 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP54",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:27:19.366725+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP54 were changed from Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia to Striatonigral degeneration, MONDO:0003122, NUP54-related; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia",
"entity_name": "NUP54",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:21:37.066055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: NUP54 was changed from None to None",
"entity_name": "NUP54",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:19:30.643623+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.509",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:17:08.674728+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.509",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.; Set current diagnostic: yes",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:15:50.142159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5060",
"user_name": "Lloyd Pereira",
"item_type": "entity",
"text": "changed review comment from: Listed in OMIM with a strong disease association (MIM #236200 homocysteinuria).\r\n\r\nMultiple experimental and clinical studies demonstrate link between CBS and homocysteinuria (see below):\r\n\r\nMultiple LOF variants classified as pathogenic or likely pathogenic in ClinVar and reported in the literature in multiple homozygote and compound heterozygote individuals affected with homocystinuria, e.g. c.19dup p.(Gln7fs) (PMID: 25218699; 12124992) and c.919G>A p.(Gly307Ser) (PMID: 7506602, 7581402, 8744616, 9889017, 23733603).\r\n\r\nMultiple CBS variants reported in CBS deficiency (PMID: 12124992).\r\n\r\nClinGen classify as definitive for Homocysteinuria. Clingen states- Twenty-one unique variants were curated (missense, nonsense, frameshift, and splice site) in 15 probands from 8 publications, and three of these probands each had two affected siblings in whom CBS variants were identified (PMID 1301198, 10408774, 7762555, 12815602, 16307898, 25455305, 26667307, 29508359). Gene-disease relationship is supported by the biochemical function of CBS, which is consistent with the biochemical features in patients with homocystinuria (including elevated plasma total homocysteine and methionine) (PMID 13654400, 15890029), functional studies in yeast, bacteria, and cultured cells, including chaperone studies in fibroblasts from patients with homocystinuria (PMID 9590298, 25331909), as well as the biochemical and clinical features of mouse models (PMID 18987302) and enzyme replacement studies in mice (PMID 29398487).\r\n\r\nRecent review reports on role of CBS in down syndrome (PMID: 31955501). However, caveat that multiple genes are associated with down syndrome. Not a strong body of research available linking CBS variants and down syndrome.; to: Listed in OMIM with a strong disease association (MIM #236200 homocysteinuria).\r\n\r\nMultiple experimental and clinical studies demonstrate link between CBS and homocysteinuria (see below):\r\n\r\nMultiple LOF variants classified as pathogenic or likely pathogenic in ClinVar and reported in the literature in multiple homozygote and compound heterozygote individuals affected with homocystinuria, e.g. c.19dup p.(Gln7fs) (PMID: 25218699; 12124992) and c.919G>A p.(Gly307Ser) (PMID: 7506602, 7581402, 8744616, 9889017, 23733603).\r\n\r\nMultiple CBS variants reported in CBS deficiency (PMID: 12124992).\r\n\r\nClinGen classify as definitive for Homocysteinuria. Clingen states- Twenty-one unique variants were curated (missense, nonsense, frameshift, and splice site) in 15 probands from 8 publications, and three of these probands each had two affected siblings in whom CBS variants were identified (PMID 1301198, 10408774, 7762555, 12815602, 16307898, 25455305, 26667307, 29508359). Gene-disease relationship is supported by the biochemical function of CBS, which is consistent with the biochemical features in patients with homocystinuria (including elevated plasma total homocysteine and methionine) (PMID 13654400, 15890029), functional studies in yeast, bacteria, and cultured cells, including chaperone studies in fibroblasts from patients with homocystinuria (PMID 9590298, 25331909), as well as the biochemical and clinical features of mouse models (PMID 18987302) and enzyme replacement studies in mice (PMID 29398487).\r\n\r\nRecent review reports on role of CBS in down syndrome (PMID: 31955501). However, caveat that multiple genes are associated with down syndrome. Not a strong body of research available linking CBS variants and down syndrome.",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:15:46.415895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCRH as Amber List (moderate evidence)",
"entity_name": "UQCRH",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:15:46.403968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrh has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRH",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:14:40.864111+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.24",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "gene: DCLRE1B was added\ngene: DCLRE1B was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: DCLRE1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCLRE1B were set to 10699141; 20479256; 35007328\nPhenotypes for gene: DCLRE1B were set to Dyskeratosis congenita, autosomal recessive 8\nReview for gene: DCLRE1B was set to GREEN\nAdded comment: PMID 35007328\r\n3 unrelated individuals with progressive bone marrow failure in early childhood. Other variable features reported: growth restriction, mild microcephaly (-2.5 SD), facial dysmorphism, and speech delay or learning difficulties, one patient with mucocutaneous features. Two individuals developed esophageal strictures and the third developed inflammatory ulcerative colitis. \r\n2 patients chet for truncating/missense variant\r\n1 patient hom for missense variant \r\nPatient cell lines demonstrated telomere fragility and instability and an increase in spontaneous radial chromosomes, chromosome breaks and sister chromatid exchanges, as well as reduced cell survival. CRISPR introduction of one WT allele in one patient complemented DNA repair defects. \r\n\r\nPMID: 20479256\r\nOne individual with Hoyeraal-Hreidarsson syndrome reported with shortened transcript in DCLRE1B of the patient’s cells; not seen in controls or other HH patients. Shortened transcript identified caused by intra-exonic splice of exon 4 leading to out-of-frame deletion causing premature stop codon (denoted splice variant “Apollo-Δ”) No molecular origin of splice variant could be identified and only linked to HH is by this one reported patient and the known DCLRE1B (SNM1B) role in telomere protection. \nSources: Literature",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:14:23.137228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FEM1C as ready",
"entity_name": "FEM1C",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:14:23.119328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fem1c has been classified as Green List (High Evidence).",
"entity_name": "FEM1C",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:14:10.594308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FEM1C as Green List (high evidence)",
"entity_name": "FEM1C",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:14:10.577108+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fem1c has been classified as Green List (High Evidence).",
"entity_name": "FEM1C",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:13:34.013073+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5060",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:12:54.720948+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5060",
"user_name": "Lloyd Pereira",
"item_type": "entity",
"text": "reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocysteinuria B6-responsive and nonresponsive types, Thrombosis hyperhomocysteinemic.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:12:09.176443+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1809",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:11:07.599539+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1809",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: TCEAL1 was added\ngene: TCEAL1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TCEAL1 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: TCEAL1 were set to PMID: 36368327\nPhenotypes for gene: TCEAL1 were set to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.\nReview for gene: TCEAL1 was set to AMBER\nAdded comment: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked\r\ndominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.\r\n\r\n1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.\r\n\r\n4 PTCs, 2 CNVs, 2 missense reported.\r\n\r\nOnly 2 individuals had seizures = amber for this panel at this stage. \nSources: Literature",
"entity_name": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:08:57.962548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCLRE1B were changed from Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome to Dyskeratosis congenita, autosomal recessive 8, MIM#\t620133",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:08:16.706015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCLRE1B were set to 20479256; 21647296",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:06:14.605798+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.66",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: LEMD2 as Amber List (moderate evidence)",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:06:14.594421+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.66",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: lemd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:05:19.667380+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.65",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LEMD2 was added\ngene: LEMD2 was added to Arrhythmogenic Cardiomyopathy. Sources: Literature\nfounder tags were added to gene: LEMD2.\nMode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660\nPhenotypes for gene: LEMD2 were set to arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587\nPenetrance for gene: LEMD2 were set to Incomplete\nReview for gene: LEMD2 was set to AMBER\nAdded comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely.\r\n\r\nLater, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398)\r\n\r\nMost recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660).\r\n\r\nIt appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time. \nSources: Literature",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:05:00.348634+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.348",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: LEMD2 as ready",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:05:00.333844+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.348",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: lemd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:04:35.638214+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.509",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: EPRS was added\ngene: EPRS was added to Regression. Sources: Literature\nMode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPRS were set to 36411955, 29576217\nPhenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM#617951\nReview for gene: EPRS was set to GREEN\nAdded comment: 5 patients across 2 papers, with delayed development (3/5) and/or regression, ataxia, dystonia, hypomyelinating leukodystrophy or periventricular white matter abnormality, 2 with epilepsy, 3 with optic atrophy, 2 with deafness, 3 with microcephaly, 1 noted to have some facial dysmorphism. \nSources: Literature",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:04:13.057256+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.348",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: LEMD2 as Amber List (moderate evidence)",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:04:13.045099+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.348",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: lemd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:04:11.637421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCLRE1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:03:47.922677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCLRE1B as Green List (high evidence)",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:03:47.910067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1b has been classified as Green List (High Evidence).",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:03:22.460880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DCLRE1B: Added comment: Three additional families reported.; Changed rating: GREEN; Changed publications: 20479256, 21647296, 35007328",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T15:02:07.717382+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.347",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LEMD2 was added\ngene: LEMD2 was added to Cataract. Sources: Literature\nfounder tags were added to gene: LEMD2.\nMode of inheritance for gene: LEMD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660\nPhenotypes for gene: LEMD2 were set to Cataract 46, juvenile-onset, OMIM# 212500\nReview for gene: LEMD2 was set to AMBER\nAdded comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely.\r\n\r\nLater, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398)\r\n\r\nMost recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660).\r\n\r\nIt appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time. \nSources: Literature",
"entity_name": "LEMD2",
"entity_type": "gene"
}
]
}