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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=644",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=642",
"results": [
{
"created": "2023-01-17T13:36:37.371852+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLDC: Changed rating: GREEN",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:34:35.554308+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBN1 as Green List (high evidence)",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:34:35.541712+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:34:24.722961+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: FBN1.\nTag cardiac tag was added to gene: FBN1.\nTag treatable tag was added to gene: FBN1.",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:34:09.252774+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBN1: Changed rating: GREEN",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:32:50.718312+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DICER1 as Green List (high evidence)",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:32:50.706142+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dicer1 has been classified as Green List (High Evidence).",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:32:37.955776+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: DICER1.",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:32:24.104425+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DICER1: Changed rating: GREEN",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:28:26.619878+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: TP53.",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:25:34.312879+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: SLC5A6.\nTag treatable tag was added to gene: SLC5A6.\nTag metabolic tag was added to gene: SLC5A6.",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:24:09.852510+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: RET.",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:24:01.773789+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease associations.\r\n\r\nAssessed as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nOnset of MEN2A is typically prior to age 35, usually between ages 5 and 25. MTC is generally the first manifestation in MEN2A with probands presenting with a neck mass or neck pain. Metastatic spread is common. MTC is the most common cause of death in patients with MEN2A.\r\n\r\nPHEOs usually present after MTC or concomitantly but are the first manifestation in 13-27% of individuals; they occur in about 50% of individuals. PHEOs are diagnosed at an earlier age, have subtler symptoms, and are more likely to be bilateral than sporadic tumors, with malignant transformation occurring in about 4% of cases. Even without malignant progression, PHEOs can be lethal from intractable hypertension or anesthesia-induced hypertensive crises. Depending on the risk category of the RET pathogenic variant, PHEOs have been observed as early as 5 years of age.\r\n\r\nFor MEN2A children with a “high-risk” pathogenic variant, patients should undergo annual ultrasound and screening for increased calcitonin levels starting at 3 years of age and proceed to thyroidectomy when elevated levels are detected or at 5 years of age. For patients with a “moderate-risk” pathogenic variant, considering the clinical variability of disease expression in family members in this category, annual physical examination, cervical US, and measurement of serum calcitonin levels, should begin at 5 years of age. \r\n\r\nBiochemical surveillance for PHPT should begin at 11 years and 16 years of age for patients with high- and moderate-risk variants, respectively; this screening is recommended annually for “high-risk” patients and at least every 2-3 years in “moderate-risk” patients.\r\n\r\nBiochemical screening for PHEO should begin at age 11 for patients with high-risk variants and age 16 for patients with moderate-risk variants.\r\n\r\nFor review: actionable in first 5 years of life?; to: Established gene-disease associations.\r\n\r\nAssessed as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nOnset of MEN2A is typically prior to age 35, usually between ages 5 and 25. MTC is generally the first manifestation in MEN2A with probands presenting with a neck mass or neck pain. Metastatic spread is common. MTC is the most common cause of death in patients with MEN2A.\r\n\r\nPHEOs usually present after MTC or concomitantly but are the first manifestation in 13-27% of individuals; they occur in about 50% of individuals. PHEOs are diagnosed at an earlier age, have subtler symptoms, and are more likely to be bilateral than sporadic tumors, with malignant transformation occurring in about 4% of cases. Even without malignant progression, PHEOs can be lethal from intractable hypertension or anesthesia-induced hypertensive crises. Depending on the risk category of the RET pathogenic variant, PHEOs have been observed as early as 5 years of age.\r\n\r\nFor MEN2A children with a “high-risk” pathogenic variant, patients should undergo annual ultrasound and screening for increased calcitonin levels starting at 3 years of age and proceed to thyroidectomy when elevated levels are detected or at 5 years of age. For patients with a “moderate-risk” pathogenic variant, considering the clinical variability of disease expression in family members in this category, annual physical examination, cervical US, and measurement of serum calcitonin levels, should begin at 5 years of age. \r\n\r\nBiochemical surveillance for PHPT should begin at 11 years and 16 years of age for patients with high- and moderate-risk variants, respectively; this screening is recommended annually for “high-risk” patients and at least every 2-3 years in “moderate-risk” patients.\r\n\r\nBiochemical screening for PHEO should begin at age 11 for patients with high-risk variants and age 16 for patients with moderate-risk variants.\r\n\r\nFor review: some actionability in first 5 years, variants can be stratified in terms of risk.",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:22:41.938018+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: RB1.",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:21:42.908598+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: PRKAR1A.",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:17:01.747975+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NF1 as Red List (low evidence)",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:17:01.725295+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Red List (Low Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:16:44.923709+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: For review: does this meet the definition of 'treatable'?; to: Mainly surveillance.",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:16:35.093081+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NF1: Changed rating: RED",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-01-17T13:15:49.584388+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: MCEE.",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2023-01-15T19:08:04.915469+11:00",
"panel_name": "Renal Glomerular Disease_SuperPanel",
"panel_id": 262,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Abnormal glomerular filtration rate, HP:0012212; Hematuria, HP:0000790;Proteinuria, HP:0000093\nList of related panels changed from to Abnormal glomerular filtration rate; HP:0012212; Hematuria; HP:0000790;Proteinuria; HP:0000093",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T19:05:39.015726+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from Abnormality of renal medullary morphology, HP:0025361 to Abnormality of renal medullary morphology, HP:0025361; Renal cyst, HP:0000107\nList of related panels changed from Abnormality of renal medullary morphology; HP:0025361 to Abnormality of renal medullary morphology; HP:0025361; Renal cyst; HP:0000107",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T19:04:57.490466+11:00",
"panel_name": "Renal Cystic Disease_SuperPanel",
"panel_id": 263,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Renal cyst, HP:0000107\nList of related panels changed from to Renal cyst; HP:0000107",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T19:04:41.797735+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Renal cyst, HP:0000107\nList of related panels changed from to Renal cyst; HP:0000107",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T19:03:33.361127+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Abnormal tubulointerstitial morphology, HP:0001969\nList of related panels changed from to Abnormal tubulointerstitial morphology; HP:0001969",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T19:01:55.188136+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Renal tubular dysfunction, HP:0000124; Nephrolithiasis, HP:0000787; Abnormal circulating aldosterone, HP:0040085\nList of related panels changed from to Renal tubular dysfunction; HP:0000124; Nephrolithiasis; HP:0000787; Abnormal circulating aldosterone; HP:0040085",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:59:34.886408+11:00",
"panel_name": "Retinal Disorders Superpanel",
"panel_id": 3124,
"panel_version": "6.156",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Abnormal retinal morphology, HP:0000479\nList of related panels changed from to Abnormal retinal morphology; HP:0000479",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:58:51.304280+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Abnormal retinal morphology, HP:0000479\nList of related panels changed from to Abnormal retinal morphology; HP:0000479",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:57:12.642757+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Rhabdomyolysis, HP:0003201\nList of related panels changed from to Rhabdomyolysis; HP:0003201",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:57:12.619777+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Rhabdomyolysis, HP:0003201\nList of related panels changed from to Rhabdomyolysis; HP:0003201",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:46:46.235421+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Severe combined immunodeficiency, HP:0004430\nList of related panels changed from to Severe combined immunodeficiency; HP:0004430\nPanel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:45:31.151387+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Obesity, HP:0001513\nList of related panels changed from to Obesity; HP:0001513",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:43:07.229548+11:00",
"panel_name": "Short QT syndrome",
"panel_id": 174,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Shortened QT interval, HP:0012232\nList of related panels changed from to Shortened QT interval; HP:0012232",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:41:57.603911+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from Short rib, HP:0000773; Polydactyly, HP:0010442 to Short rib, HP:0000773; Polydactyly, HP:0010442; Bell-shaped thorax, HP:0001591\nList of related panels changed from Short rib; HP:0000773; Polydactyly; HP:0010442 to Short rib; HP:0000773; Polydactyly; HP:0010442; Bell-shaped thorax; HP:0001591",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:40:27.043755+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Short rib, HP:0000773; Polydactyly, HP:0010442\nList of related panels changed from to Short rib; HP:0000773; Polydactyly; HP:0010442",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:37:30.255040+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Skeletal dysplasia, HP:0002652\nList of related panels changed from to Skeletal dysplasia; HP:0002652",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:36:15.414723+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Periodic paralysis, HP:0003768; Myotonia, HP:0002486\nList of related panels changed from to Periodic paralysis; HP:0003768; Myotonia; HP:0002486",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:33:17.061368+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Myopia, HP:0000545; Retinal detachment, HP:0000541; Cleft palate, HP:0000175\nList of related panels changed from to Myopia; HP:0000545; Retinal detachment; HP:0000541; Cleft palate; HP:0000175",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:31:37.243902+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Stroke, HP:0001297\nList of related panels changed from to Stroke; HP:0001297",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:13:13.361929+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Recurrent viral infections, HP:0004429; Severe viral infection, HP:0031691\nList of related panels changed from to Recurrent viral infections; HP:0004429; Severe viral infection; HP:0031691",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:10:54.373701+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Retinopathy, HP:0000488\nList of related panels changed from to Retinopathy; HP:0000488",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:10:04.901126+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Abnormal cortical gyration, HP:0002536\nList of related panels changed from to Abnormal cortical gyration; HP:0002536",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:08:19.035279+11:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Usher syndrome, MONDO:0019501\nList of related panels changed from to Usher syndrome; MONDO:0019501",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:07:36.460369+11:00",
"panel_name": "Vascular Malformations SuperPanel",
"panel_id": 3731,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Abnormal vascular morphology HP:0025015\nList of related panels changed from to Abnormal vascular morphology HP:0025015",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-15T18:07:05.592409+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "HPO terms changed from to Abnormal posterior eye segment morphology, HP:0004329\nList of related panels changed from to Abnormal posterior eye segment morphology; HP:0004329",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-12T10:19:54.826184+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF668 were changed from DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism to Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2023-01-12T10:19:32.576255+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF668 were changed from DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism to Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2023-01-12T10:19:10.571185+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF668 were changed from DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism to Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2023-01-12T10:18:25.862240+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF668 were changed from DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism to Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2023-01-12T10:06:54.572748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF668 were changed from DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism to Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2023-01-12T10:06:16.082557+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF668: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:21:26.781352+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMC5 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 2, MIM# 620185",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:21:14.586029+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMC5: Changed phenotypes: Atelis syndrome 2, MIM# 620185",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:20:55.737886+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMC5 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 2, MIM# 620185",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:20:17.595548+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMC5: Changed phenotypes: Atelis syndrome 2, MIM# 620185",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:20:02.171996+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMC5 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 2, MIM# 620185",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:19:20.113193+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMC5: Changed phenotypes: Atelis syndrome 2, MIM# 620185",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:18:59.829078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMC5 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 2, MIM# 620185",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:18:36.704084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMC5: Changed phenotypes: Atelis syndrome 2, MIM# 620185",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:18:16.813217+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMC5 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 2, MIM# 620185",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:17:36.089935+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMC5: Changed phenotypes: Atelis syndrome 2, MIM# 620185",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:16:49.842534+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLF2 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 1, MIM# 620184",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:16:37.907123+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLF2: Changed phenotypes: Atelis syndrome 1, MIM# 620184",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:16:18.812745+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLF2 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 1, MIM# 620184",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:15:39.893262+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLF2: Changed phenotypes: Atelis syndrome 1, MIM# 620184",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:15:18.228238+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLF2 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 1, MIM# 620184",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:14:23.234996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLF2 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 1, MIM# 620184",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:14:00.139597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLF2: Changed phenotypes: Atelis syndrome 1, MIM# 620184",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:13:40.052225+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLF2 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 1, MIM# 620184",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2023-01-11T08:13:02.387998+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLF2: Changed phenotypes: Atelis syndrome 1, MIM# 620184",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:22:43.657933+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A6 as ready",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:22:43.645325+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a6 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:22:35.138911+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A6 was added\ngene: SLC6A6 was added to Renal Tubulopathies and related disorders. Sources: Literature\nMode of inheritance for gene: SLC6A6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC6A6 were set to 35115415; 21170874; 32660969\nPhenotypes for gene: SLC6A6 were set to Primary hyperoxaluria, MONDO:0002474, SLC26A6-related\nReview for gene: SLC6A6 was set to RED\nAdded comment: Cornière et al. 2022 (PMID: 35115415) identified a single family with a heterozygous missense VUS (c.1519C>T/p.R507W) in the SLC26A6 gene. However, the variant was found in 5 out of 280 674 alleles reported in gnomAD (Europeans and South Asians). In vitro studies showed that the variant affects both SLC26A6 transport activity and membrane surface expression, in turn reducing Cl− dependant oxalate transport. Cotransfection studies indicated a dominant-negative effect on WT. Slc26a6 null mice similarly displayed hyperoxalemia and hyperoxaluria which were caused by defective intestinal back-secretion of dietary oxalate (PMID: 21170874; 32660969) \nSources: Literature",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:21:09.591465+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAE1 as ready",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:21:09.575201+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nae1 has been classified as Green List (High Evidence).",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:20:55.727887+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAE1 as Green List (high evidence)",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:20:55.714106+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nae1 has been classified as Green List (High Evidence).",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:20:24.927035+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAE1 was added\ngene: NAE1 was added to Regression. Sources: Literature\nMode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAE1 were set to 36608681\nPhenotypes for gene: NAE1 were set to Neurodevelopmental disorder, MONDO:0700092, NAE1-related\nReview for gene: NAE1 was set to GREEN\nAdded comment: Four individuals reported with bi-allelic variants and intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration. \nSources: Literature",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:19:00.292103+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAE1 as ready",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:19:00.277638+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nae1 has been classified as Green List (High Evidence).",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:18:54.372441+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAE1 as Green List (high evidence)",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:18:54.359883+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nae1 has been classified as Green List (High Evidence).",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:18:19.061904+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAE1 was added\ngene: NAE1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAE1 were set to 36608681\nPhenotypes for gene: NAE1 were set to Neurodevelopmental disorder, MONDO:0700092, NAE1-related\nReview for gene: NAE1 was set to GREEN\nAdded comment: Four individuals reported with bi-allelic variants and intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration. \nSources: Literature",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:16:26.782930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAE1 as ready",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:16:26.764425+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nae1 has been classified as Green List (High Evidence).",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:16:15.246417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAE1 as Green List (high evidence)",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:16:15.233058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nae1 has been classified as Green List (High Evidence).",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:15:55.793254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAE1 was added\ngene: NAE1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAE1 were set to 36608681\nPhenotypes for gene: NAE1 were set to Neurodevelopmental disorder, MONDO:0700092, NAE1-related\nReview for gene: NAE1 was set to GREEN\nAdded comment: Four individuals reported with bi-allelic variants and intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration. \nSources: Literature",
"entity_name": "NAE1",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:13:04.699176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC26A6 as ready",
"entity_name": "SLC26A6",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:13:04.672890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a6 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A6",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:12:50.163240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A6 were changed from Enteric hyperoxaluria and nephrolithiasis to Primary hyperoxaluria, MONDO:0002474, SLC26A6-related",
"entity_name": "SLC26A6",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:10:51.773410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC26A6 as Red List (low evidence)",
"entity_name": "SLC26A6",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:10:51.760516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a6 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A6",
"entity_type": "gene"
},
{
"created": "2023-01-09T17:10:30.214679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC26A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary hyperoxaluria, MONDO:0002474, SLC26A6-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC26A6",
"entity_type": "gene"
},
{
"created": "2023-01-08T16:17:16.581085+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPC5 as ready",
"entity_name": "TRPC5",
"entity_type": "gene"
},
{
"created": "2023-01-08T16:17:16.566849+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPC5",
"entity_type": "gene"
},
{
"created": "2023-01-08T16:16:50.792489+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPC5 as Amber List (moderate evidence)",
"entity_name": "TRPC5",
"entity_type": "gene"
},
{
"created": "2023-01-08T16:16:50.781701+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPC5",
"entity_type": "gene"
},
{
"created": "2023-01-08T16:13:37.103053+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPC5 was added\ngene: TRPC5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TRPC5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TRPC5 were set to 36323681; 24817631; 23033978; 33504798; 28191890\nPhenotypes for gene: TRPC5 were set to Neurodevelopmental disorder, MONDO:0700092, TRPC5-related\nReview for gene: TRPC5 was set to AMBER\nAdded comment: PMID: 36323681; Leitão E. et al. (2022) Nat Commun.13(1):6570: \r\nMissense variant NM_012471.2:c.523C>T, p.(Arg175Cys in three brothers with intellectual disability (ID) and autistic spectrum disorder (ASD), inherited from an asymptomatic mother and absent in the maternal grandparents. \r\nWhole cell patch clamp studies of HEK293 created by site-directed mutagenesis showed increased current of this calcium channel (constitutively opened). \r\n(This variant is absent in gnomAD v2.1.1). \r\n\r\nAlso, the nonsense variant, c.965G> A, p.(Trp322*) was found in a high functioning ASD male (maternally inherited), NMD-predicted. \r\n\r\nOther papers and TRPC5 variants that were cited to associate this gene with X-linked ID and/or ASD include:\r\nPMID: 24817631; Mignon-Ravix, C. et al. (2014) Am. J.Med. Genet. A 164A: 1991–1997: A hemizygous 47-kb deletion in Xq23 including exon 1 of the TRPC5 gene. He had macrocephaly, delayed psychomotor development, speech delay, behavioural problems, and autistic features. Maternally inherited, and a family history compatible with X-linked inheritance (i.e., maternal great uncle was also affected, although not tested). \r\n\r\nIn addition, PMID: 36323681; Leitão E. et al. (2022) cites papers with the variants p.(Pro667Thr), p.(Arg71Gln) and p.(Trp225*).\r\nNB. p.(Pro667Thr) is absent in gnomAD (v2.1.1), p.(Arg71Gln) is also absent (the alternative variant p.(Arg71Trp) is present once as heterozygous only). p.(Trp225*) is absent, and it should be noted that PTCs / LoF variants are very rare (pLI = 1).\r\n\r\nHowever, looking further into the three references, the evidence is not as clear or as accurate as was stated. \r\n\r\nThe missense variant c.1999C>A, p.(Pro667Thr), was stated as de novo, but was actually maternally inherited but was still considered a candidate for severe intellectual disability (shown in the Appendix, Patient 93, with severe speech delay, autism spectrum disorder and Gilles de la Tourette). This patient also has a de novo MTF1 variant. Reference: PMID: 23033978; de Ligt, J. et al. (2012) N. Engl. J. Med. 367: 1921–1929). \r\n\r\nMissense variant (de novo): c.212G>A, p.(Arg71Gln), was found as part of the Deciphering Developmental Disorders (DDD) study and is shown in individual 164 in Supplementary Table 2 of PMID: 33504798; Martin, HC. et al. (2021) Nat. Commun.12: 627. Also displayed in DECIPHER (DDD research variant) with several phenotype traits, but ID and ASD are not specifically mentioned.\r\n\r\nNonsense variant: c.674G>A. p.(Trp225*) was stated as de novo but was inherited (reference PMID: 28191890; Kosmicki, JA. et al. (2017) Nat. Genet. 49: 504–510. Supplement Table 7). This was a study of severe intellectual delay, developmental delay / autism. (NB. The de novo p.(Arg71Gln) variant from the DDD study is also listed (subject DDD 342 in Supplement 4 / Table 2). \nSources: Literature",
"entity_name": "TRPC5",
"entity_type": "gene"
},
{
"created": "2023-01-08T16:11:44.111707+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPC5 as ready",
"entity_name": "TRPC5",
"entity_type": "gene"
}
]
}