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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1270",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1268",
"results": [
{
"created": "2021-07-17T17:33:23.725228+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0556 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:33:19.111784+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0556 as Green List (high evidence)",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:33:19.102296+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0556 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:32:42.950888+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA0556 was added\ngene: KIAA0556 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nnew gene name tags were added to gene: KIAA0556.\nMode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0556 were set to 26714646; 27245168\nPhenotypes for gene: KIAA0556 were set to Joubert syndrome 26, MIM# 616784\nReview for gene: KIAA0556 was set to GREEN\nAdded comment: 5 individuals from two families reported, supportive mouse model.\r\n\r\nNew HGNC approved name is KATNIP. \nSources: Expert Review",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:32:16.676520+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Meaghan Wall",
"item_type": "entity",
"text": "changed review comment from: Hercílio Martelli-Júnior et al, screened 8 patients with confirmed Bartter syndrome for dental abnormalities. Typical features of AI were found in 2 girls. One affected girl had BS due to a homozygous mutation of exon 5 of the KCNJ1.; to: Hercílio Martelli-Júnior et al, screened 8 patients with confirmed Bartter syndrome for dental abnormalities. Typical features of AI were found in 2 girls. One affected girl had BS due to a homozygous variant in exon 5 of KCNJ1.",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:31:27.258153+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0556 as ready",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:31:27.246357+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0556 has been classified as Red List (Low Evidence).",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:31:16.147846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 individuals from two families reported, supportive mouse model.; to: 5 individuals from two families reported, supportive mouse model.\r\n\r\nNew HGNC approved name is KATNIP.",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:30:46.635284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA0556.",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:30:42.343768+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0556 were changed from to Joubert syndrome 26, MIM# 616784",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:30:30.174284+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Meaghan Wall",
"item_type": "entity",
"text": "reviewed gene: KCNJ1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23341834; Phenotypes: Amelogenesis imperfecta, Bartter syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:30:15.293909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0556 as ready",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:30:15.283470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0556 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:30:07.190132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0556 were changed from to Joubert syndrome 26, MIM# 616784",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:29:48.415563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0556 were set to ",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:29:30.229812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA0556 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:29:13.195321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: None; Publications: 26714646, 27245168; Phenotypes: Joubert syndrome 26, MIM# 616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:28:31.641640+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0556 were set to ",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:28:02.960888+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA0556 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:27:35.029418+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0556 as Red List (low evidence)",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:27:35.015734+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0556 has been classified as Red List (Low Evidence).",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:27:10.148213+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIAA0556: Rating: RED; Mode of pathogenicity: None; Publications: 26714646, 27245168; Phenotypes: Joubert syndrome 26, MIM# 616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:24:06.130183+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT43 as ready",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:24:06.118512+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift43 has been classified as Green List (High Evidence).",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:24:03.102842+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Cranioectodermal dysplasia 3, MIM# 614099",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:23:30.935111+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT43 were set to ",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:22:29.972251+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:22:04.302647+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia.; to: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia. Renal involvement including nephronophthisis/cysts in both.",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:20:46.733811+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT27 as ready",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:20:46.724761+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift27 has been classified as Green List (High Evidence).",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:20:38.680598+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT27 were changed from to Bardet-Biedl syndrome 19, MIM#615996",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:19:21.606142+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT27 were set to ",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:18:53.189259+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:15:28.295146+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:14:14.015861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:13:31.908871+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:13:15.210547+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Meaghan Wall",
"item_type": "entity",
"text": "changed review comment from: In a Costa Rican family segregating autosomal dominant hypomineralized amelogenesis imperfecta, Smith et al. (2016) identified a heterozygous deletion/insertion mutation in the amelotin gene that segregated with the phenotype in the family. The mutation was predicted to result in an in-frame deletion of 92 amino acids, shortening the protein from 209 to 117 amino acids.\r\n\r\nMode of pathogenicity not established. Toxic gain of function proposed as Atmn KO and +/- in mice did not recapitulate the human phenotype.; to: In a Costa Rican family segregating autosomal dominant hypomineralized amelogenesis imperfecta, Smith et al. (2016) identified a heterozygous deletion/insertion mutation in the amelotin gene that segregated with the phenotype in the family. The mutation was predicted to result in an in-frame deletion of 92 amino acids, shortening the protein from 209 to 117 amino acids.\r\n\r\nMode of pathogenicity not established. Toxic gain of function proposed as Atmn KO and +/- mice did not recapitulate the human phenotype.",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:12:48.558200+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT140 as ready",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:12:48.547548+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift140 has been classified as Green List (High Evidence).",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:12:41.696350+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:12:13.298415+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT140 were set to ",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:12:06.794835+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Meaghan Wall",
"item_type": "entity",
"text": "reviewed gene: AMTN: Rating: ; Mode of pathogenicity: Other; Publications: PMID: 27412008, 25715379, 26620968; Phenotypes: hypomineralised amelogenesis imperfecta, ?Amelogenesis imperfecta, type IIIB; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:08:17.969075+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:07:46.980982+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT140: Changed phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, MONDO:0009964",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-17T17:07:09.215489+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-17T16:21:12.491452+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LZTFL1 as ready",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-07-17T16:21:12.473854+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lztfl1 has been classified as Green List (High Evidence).",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-07-17T16:21:07.366829+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LZTFL1 were changed from to Bardet-Biedl syndrome 17 (MIM#615994)",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-07-17T16:20:23.447064+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LZTFL1 were set to ",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-07-17T16:19:09.684302+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-07-17T16:18:40.117756+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:09:04.167038+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093; Beemer-Langer syndrome",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:08:23.991452+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093; Beemer-Langer syndrome",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:06:10.484281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# MIM#218330 to Cranioectodermal dysplasia 1, MIM# MIM#218330; MONDO:0021093",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:05:33.736161+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1 MIM#218330 to Cranioectodermal dysplasia 1 MIM#218330; MONDO:0021093",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:04:59.670388+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093; Beemer-Langer syndrome",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:04:32.005561+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330 to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:03:29.204029+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT122 as ready",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:03:29.192966+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift122 has been classified as Green List (High Evidence).",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:03:26.280614+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from to Cranioectodermal dysplasia 1, MIM# 218330",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:03:02.089965+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT122 were set to ",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:02:34.192823+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T14:01:37.583959+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493458, 23826986, 28370949, 33717254, 26792575; Phenotypes: Cranioectodermal dysplasia 1, MIM# 218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:50:32.083939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LINGO4 as ready",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:50:32.065139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo4 has been classified as Green List (High Evidence).",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:50:24.306892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LINGO4 as Green List (high evidence)",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:50:24.296968+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo4 has been classified as Green List (High Evidence).",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:49:50.047638+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LINGO4 as ready",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:49:50.037930+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo4 has been classified as Green List (High Evidence).",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:49:44.385351+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LINGO4 as Green List (high evidence)",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:49:44.375350+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo4 has been classified as Green List (High Evidence).",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:48:21.632412+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LINGO1: Changed rating: AMBER",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:47:19.192578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARFGEF3 as ready",
"entity_name": "ARFGEF3",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:47:19.182307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arfgef3 has been classified as Green List (High Evidence).",
"entity_name": "ARFGEF3",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:47:10.821190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARFGEF3 as Green List (high evidence)",
"entity_name": "ARFGEF3",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:47:10.812332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arfgef3 has been classified as Green List (High Evidence).",
"entity_name": "ARFGEF3",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:45:45.885973+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IMPDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:45:29.042520+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IMPDH2 as ready",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:45:29.032834+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impdh2 has been classified as Green List (High Evidence).",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:45:25.126782+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IMPDH2 were changed from to Neurodevelopmental disorder with dystonia",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:45:04.621132+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IMPDH2 as Green List (high evidence)",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:45:04.610948+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impdh2 has been classified as Green List (High Evidence).",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:44:30.556780+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IMPDH2 as ready",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:44:30.546777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impdh2 has been classified as Green List (High Evidence).",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:44:19.555827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IMPDH2 were changed from Dystonia to Neurodevelopmental disorder with dystonia",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:43:56.197110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IMPDH2 as Green List (high evidence)",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:43:56.186943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impdh2 has been classified as Green List (High Evidence).",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:42:37.845171+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IMPDH2 as ready",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:42:37.835115+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impdh2 has been classified as Green List (High Evidence).",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:42:31.605344+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IMPDH2 were changed from Dystonia to Neurodevelopmental disorder with dystonia",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:42:15.964046+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IMPDH2 as Green List (high evidence)",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T13:42:15.953535+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impdh2 has been classified as Green List (High Evidence).",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-17T00:20:31.071442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8335",
"user_name": "Laura Raiti",
"item_type": "entity",
"text": "gene: LINGO4 was added\ngene: LINGO4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LINGO4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LINGO4 were set to PMID: 33098801\nPhenotypes for gene: LINGO4 were set to Developmental Delay, Intellectual disability, speech disorder\nReview for gene: LINGO4 was set to GREEN\nAdded comment: 3 unrelated individuals \r\n1 x individual compound heterozygous for 2x missense variants: \r\nc.679C>A; c.1262G>A p.Leu227Met; p.Arg421Gln comp het. Phenotype: infancy-onset\r\ngeneralized dystonia; DD/hypo, ID, speech disorder (isolated plus non-MD symptoms) NDD\r\n\r\n1 x individual homozygous for missense variant: c.679C>A p.Leu227Met Phenotype: DD/hypo, ID, speech disorder \r\n\r\n1 x individual homozygous for missense variant: c.1673G>A p.Ser558Asn Phenotype: DD/hypo, ID, speech disorder \nSources: Literature",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2021-07-17T00:19:25.217193+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3978",
"user_name": "Laura Raiti",
"item_type": "entity",
"text": "gene: LINGO4 was added\ngene: LINGO4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LINGO4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LINGO4 were set to PMID: 33098801\nPhenotypes for gene: LINGO4 were set to Developmental Delay, Intellectual disability, speech disorder\nReview for gene: LINGO4 was set to GREEN\nAdded comment: 3 unrelated individuals \r\n1 x individual compound heterozygous for 2x missense variants: \r\nc.679C>A; c.1262G>A p.Leu227Met; p.Arg421Gln comp het. Phenotype: infancy-onset\r\ngeneralized dystonia; DD/hypo, ID, speech disorder (isolated plus non-MD symptoms) NDD\r\n\r\n1 x individual homozygous for missense variant: c.679C>A p.Leu227Met Phenotype: DD/hypo, ID, speech disorder \r\n\r\n1 x individual homozygous for missense variant: c.1673G>A p.Ser558Asn Phenotype: DD/hypo, ID, speech disorder \nSources: Literature",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2021-07-17T00:11:39.707627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8335",
"user_name": "Laura Raiti",
"item_type": "entity",
"text": "gene: ARFGEF3 was added\ngene: ARFGEF3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARFGEF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARFGEF3 were set to PMID: 33098801\nPhenotypes for gene: ARFGEF3 were set to Dystonia\nReview for gene: ARFGEF3 was set to GREEN\nAdded comment: 3 x unrelated individuals \r\n1 x de novo missense variant: c.6212T>C p.Met2071Thr, phenotype: infancy-onset generalized dystonia (isolated)\r\n1x stop-gain variant c.1773T>G p.Tyr591* (inherited from mosaic mother), phenotype: infancy-onset generalized dystonia (isolated)\r\n1 x de novo missense variant (Gene Matcher) c.250A>C p.Met84Leu childhood-onset generalized dystonia (isolated) \nSources: Literature",
"entity_name": "ARFGEF3",
"entity_type": "gene"
},
{
"created": "2021-07-16T23:51:23.988874+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3978",
"user_name": "Laura Raiti",
"item_type": "entity",
"text": "gene: IMPDH2 was added\ngene: IMPDH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: IMPDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IMPDH2 were set to PMID: 33098801\nAdded comment: 6 unrelated individuals \r\n1x individual in a dystonia cohort index case with infancy-onset dystonia and other neurological manifestations with a de-novo missense variant, c.338G>A (p.Gly113Glu) in IMPDH2, predicted to disrupt an invariant residue within the cystathionine-β-synthase (CBS) domain pair of the encoded protein.\r\nIMPDH2 encodes IMPDH2, a key enzyme in the purine biosynthetic pathway, expressed throughout the brain and not linked previously to any human Mendelian condition. \r\n1x individual with a de-novo substitution, c.337G>A (p.Gly113Arg), was found in in-house whole-exome sequencing data from 500 individuals with neurodevelopmental disorders. Through GeneMatcher, de novo variants identified: \r\n3 x missense: c.729G>C (p.Gln243His), c.619G>C (p.Gly207Arg), and c.619G>A (p.Gly207Arg)\r\n1 x deletion: c.478_480delTCC (p.Ser160del)\r\nThe six variants were predicted to be deleterious and none of them seen in control databases. All affected conserved amino acids and resided in and around the cystathionine-β-synthase domain pair.\r\nThe described variants are situated in and around the CBS domain pair, a regulatory element in which clustering of pathogenic missense variants has already been shown for the homologue of IMPDH2, IMPDH1.\r\n\r\nThe variant carriers shared similar neurodevelopmental phenotypes. Apart from the dystonia cohort index case, one participant had evidence of dystonic posturing. Modelling of the variants on 3D protein structures revealed spatial clustering near specific functional sites, predicted to result in deregulation of IMPDH2 activity. Additionally, thermal-shift assays showed that the c.619G>A (p.Gly207Arg) variant, identified as within the CBS domain pair, and c.729G>C (p.Gln243His), which is in close vicinity, affected the stability or folding behaviour of IMPDH2. \nSources: Literature",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-16T23:50:04.678033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8335",
"user_name": "Laura Raiti",
"item_type": "entity",
"text": "gene: IMPDH2 was added\ngene: IMPDH2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IMPDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IMPDH2 were set to PMID: 33098801\nPhenotypes for gene: IMPDH2 were set to Dystonia\nReview for gene: IMPDH2 was set to GREEN\nAdded comment: 6 unrelated individuals \r\n1x individual in a dystonia cohort index case with infancy-onset dystonia and other neurological manifestations with a de-novo missense variant, c.338G>A (p.Gly113Glu) in IMPDH2, predicted to disrupt an invariant residue within the cystathionine-β-synthase (CBS) domain pair of the encoded protein.\r\nIMPDH2 encodes IMPDH2, a key enzyme in the purine biosynthetic pathway, expressed throughout the brain and not linked previously to any human Mendelian condition. \r\n1x individual with a de-novo substitution, c.337G>A (p.Gly113Arg), was found in in-house whole-exome sequencing data from 500 individuals with neurodevelopmental disorders. Through GeneMatcher, de novo variants identified: \r\n3 x missense: c.729G>C (p.Gln243His), c.619G>C (p.Gly207Arg), and c.619G>A (p.Gly207Arg)\r\n1 x deletion: c.478_480delTCC (p.Ser160del)\r\nThe six variants were predicted to be deleterious and none of them seen in control databases. All affected conserved amino acids and resided in and around the cystathionine-β-synthase domain pair.\r\nThe described variants are situated in and around the CBS domain pair, a regulatory element in which clustering of pathogenic missense variants has already been shown for the homologue of IMPDH2, IMPDH1.\r\n\r\nThe variant carriers shared similar neurodevelopmental phenotypes. Apart from the dystonia cohort index case, one participant had evidence of dystonic posturing. Modelling of the variants on 3D protein structures revealed spatial clustering near specific functional sites, predicted to result in deregulation of IMPDH2 activity. Additionally, thermal-shift assays showed that the c.619G>A (p.Gly207Arg) variant, identified as within the CBS domain pair, and c.729G>C (p.Gln243His), which is in close vicinity, affected the stability or folding behaviour of IMPDH2. \nSources: Literature",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-16T23:48:50.606899+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.183",
"user_name": "Laura Raiti",
"item_type": "entity",
"text": "gene: IMPDH2 was added\ngene: IMPDH2 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: IMPDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IMPDH2 were set to PMID: 33098801\nPhenotypes for gene: IMPDH2 were set to Dystonia\nReview for gene: IMPDH2 was set to GREEN\nAdded comment: 6 unrelated individuals \r\n1x individual in a dystonia cohort index case with infancy-onset dystonia and other neurological manifestations with a de-novo missense variant, c.338G>A (p.Gly113Glu) in IMPDH2, predicted to disrupt an invariant residue within the cystathionine-β-synthase (CBS) domain pair of the encoded protein.\r\nIMPDH2 encodes IMPDH2, a key enzyme in the purine biosynthetic pathway, expressed throughout the brain and not linked previously to any human Mendelian condition. \r\n1x individual with a de-novo substitution, c.337G>A (p.Gly113Arg), was found in in-house whole-exome sequencing data from 500 individuals with neurodevelopmental disorders. Through GeneMatcher, de novo variants identified: \r\n3 x missense: c.729G>C (p.Gln243His), c.619G>C (p.Gly207Arg), and c.619G>A (p.Gly207Arg)\r\n1 x deletion: c.478_480delTCC (p.Ser160del)\r\nThe six variants were predicted to be deleterious and none of them seen in control databases. All affected conserved amino acids and resided in and around the cystathionine-β-synthase domain pair.\r\nThe described variants are situated in and around the CBS domain pair, a regulatory element in which clustering of pathogenic missense variants has already been shown for the homologue of IMPDH2, IMPDH1.\r\n\r\nThe variant carriers shared similar neurodevelopmental phenotypes. Apart from the dystonia cohort index case, one participant had evidence of dystonic posturing. Modelling of the variants on 3D protein structures revealed spatial clustering near specific functional sites, predicted to result in deregulation of IMPDH2 activity. Additionally, thermal-shift assays showed that the c.619G>A (p.Gly207Arg) variant, identified as within the CBS domain pair, and c.729G>C (p.Gln243His), which is in close vicinity, affected the stability or folding behaviour of IMPDH2. \nSources: Literature",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:11:56.988288+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT172 as ready",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-16T20:11:56.978068+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift172 has been classified as Green List (High Evidence).",
"entity_name": "IFT172",
"entity_type": "gene"
}
]
}