HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1193",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1191",
"results": [
{
"created": "2021-10-06T12:55:38.521279+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRMDA was added\ngene: LRMDA was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRMDA were set to PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism; PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11; 23395477\nPhenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.471015+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS6 was added\ngene: HPS6 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6 614075 AR",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.421793+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS5 was added\ngene: HPS5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPS5 were set to 12548288; 18182080; 27593200; 26785811; 28296950\nPhenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.371977+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS4 was added\ngene: HPS4 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPS4 were set to 11836498; 15108212\nPhenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.323247+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS3 was added\ngene: HPS3 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPS3 were set to 11455388; 11590544\nPhenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.272905+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS1 was added\ngene: HPS1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPS1 were set to 9705234; 10971344; 9497254; 7573033\nPhenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.221288+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPR143 was added\ngene: GPR143 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: GPR143 were set to 21541274; 26061757; 26160353; 21423867\nPhenotypes for gene: GPR143 were set to Ocular albinism, type I; Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.170758+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRMD7 was added\ngene: FRMD7 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: FRMD7 were set to 17013395; 17397053; 18431453; 17846367; 21303855; 24688117\nPhenotypes for gene: FRMD7 were set to Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.121783+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASK was added\ngene: CASK was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CASK were set to Mental retardation, with or without nystagmus 300422; FG syndrome 4 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.071720+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1F was added\ngene: CACNA1F was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CACNA1F were set to Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL; Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:38.019360+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1A was added\ngene: CACNA1A was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1A were set to 19182766\nPhenotypes for gene: CACNA1A were set to Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:37.950497+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP3B1 was added\ngene: AP3B1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp\nMode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 AR",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:55:37.900975+11:00",
"panel_name": "Albinism or congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Albinism or congenital nystagmus",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-06T12:42:25.062860+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.55",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: DLG4 was added\ngene: DLG4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DLG4 were set to PMID: 33597769\nPhenotypes for gene: DLG4 were set to Intellectual developmental disorder 62, MIM#618793\nReview for gene: DLG4 was set to GREEN\nAdded comment: PMID: 33597769 - joint laxity reported in 13/38 patients, most patient variants were de novo PTCs \nSources: Literature",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:31:01.681735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPD were changed from Developmental disorders to Neurodevelopmental disorder",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:30:39.214000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPD were set to 33057194",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:30:16.848242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNRNPD as Green List (high evidence)",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:30:16.838917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpd has been classified as Green List (High Evidence).",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:29:59.454344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNRNPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 33874999; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:28:50.552757+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPD were set to 33057194",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:28:28.516552+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPD were changed from Developmental disorders to Neurodevelopmental disorder",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:27:39.270180+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNRNPD as Green List (high evidence)",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2021-10-06T12:27:39.260706+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpd has been classified as Green List (High Evidence).",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2021-10-06T11:31:00.837709+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4180",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: HNRNPD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33874999; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2021-10-05T21:49:38.373062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EHHADH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2021-10-05T21:46:46.472009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13B as ready",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T21:46:46.458696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13b has been classified as Red List (Low Evidence).",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T21:46:35.589853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UNC13B was added\ngene: UNC13B was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: UNC13B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: UNC13B were set to 33876820\nPhenotypes for gene: UNC13B were set to Epilepsy\nReview for gene: UNC13B was set to RED\nAdded comment: No OMIM human disease association. Gene encodes a presynaptic protein Munc13-2 highly expressed in the brain (predominantly cerebral cortex). \r\n\r\nVariant interpretation data in human epilepsy cohort somewhat conflicting and restricted to a single study. Conflicting data esp regarding MOI, and evidence for pathogenicity of several of the variants is limited.\r\n\r\nWang et al, Brain, 2021 - trio-based whole-exome sequencing identified UNC13B in 12 individuals affected by partial epilepsy and/or febrile seizures from 8 unrelated families. Identified:\r\nx1 de novo nonsense variant, absent in gnomad, damaging in silicos\r\nx1 de novo splice site, absent in gnomad, damaging in silicos\r\nx1 splice site variant present in unaffected mother (low frequency in gnomad)\r\nx2 compound het in one individual - more severe phenotype postulated (x1 variant present in contro cohortl, the other variant present in low frequency in gnomad)\r\nx1 missense variant - in Han Chinese major depressive disorders study, not in gnomad\r\nx1 missense variant - highly conserved residue, not in gnomad\r\nx2 other missense variant - highly conserved residue, low frequency in gnomad\r\nLatter 4 missense variants cosegregated with affected individuals in the families\r\n\r\nIn Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila\r\n\r\nDe novo UNC13B variants previously reported in bipolar disorder and autism spectrum disorder \nSources: Expert Review",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T21:46:08.975025+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC13B: Changed rating: RED",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T21:45:26.763539+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC13B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T21:43:37.455093+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13B as ready",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T21:43:37.450974+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree data is conflicting esp regarding MOI, and evidence for pathogenicity of several of the variants is limited.",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T21:43:37.418203+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13b has been classified as Red List (Low Evidence).",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T21:42:52.873510+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC13B as Red List (low evidence)",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T21:42:52.863189+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13b has been classified as Red List (Low Evidence).",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:42:49.079889+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1260",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: No OMIM human disease association. Gene encodes a presynaptic protein Munc13-2 highly expressed in the brain (predominantly cerebral cortex). \r\n\r\nVariant interpretation data in human epilepsy cohort somewhat conflicting and restricted to a single study. Wang et al, Brain, 2021 - trio-based whole-exome sequencing identified UNC13B in 12 individuals affected by partial epilepsy and/or febrile seizures from 8 unrelated families. Identified:\r\nx1 de novo nonsense variant, absent in gnomad, damaging in silicos\r\nx1 de novo splice site, absent in gnomad, damaging in silicos\r\nx1 de novo splice site in unaffected mother (low frequency in gnomad)\r\nx2 compound het in one individual - more severe phenotype postulated (x1 variant present in contro cohortl, the other variant present in low frequency in gnomad)\r\nx1 missense variant - in Han Chinese major depressive disorders study, not in gnomad\r\nx1 missense variant - highly conserved residue, not in gnomad\r\nx2 other missense variant - highly conserved residue, low frequency in gnomad\r\nLatter 4 missense variants cosegregated with affected individuals in the families\r\n\r\nIn Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila\r\n\r\nDe novo UNC13B variants previously reported in bipolar disorder and autism spectrum disorder \nSources: Expert list, Literature; to: No OMIM human disease association. Gene encodes a presynaptic protein Munc13-2 highly expressed in the brain (predominantly cerebral cortex). \r\n\r\nVariant interpretation data in human epilepsy cohort somewhat conflicting and restricted to a single study. Wang et al, Brain, 2021 - trio-based whole-exome sequencing identified UNC13B in 12 individuals affected by partial epilepsy and/or febrile seizures from 8 unrelated families. Identified:\r\nx1 de novo nonsense variant, absent in gnomad, damaging in silicos\r\nx1 de novo splice site, absent in gnomad, damaging in silicos\r\nx1 splice site variant present in unaffected mother (low frequency in gnomad)\r\nx2 compound het in one individual - more severe phenotype postulated (x1 variant present in contro cohortl, the other variant present in low frequency in gnomad)\r\nx1 missense variant - in Han Chinese major depressive disorders study, not in gnomad\r\nx1 missense variant - highly conserved residue, not in gnomad\r\nx2 other missense variant - highly conserved residue, low frequency in gnomad\r\nLatter 4 missense variants cosegregated with affected individuals in the families\r\n\r\nIn Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila\r\n\r\nDe novo UNC13B variants previously reported in bipolar disorder and autism spectrum disorder \r\nSources: Expert list, Literature",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:39:47.734256+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1260",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UNC13B was added\ngene: UNC13B was added to Genetic Epilepsy. Sources: Expert list,Literature\nMode of inheritance for gene: UNC13B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UNC13B were set to 33876820\nPhenotypes for gene: UNC13B were set to Epilepsy\nPenetrance for gene: UNC13B were set to unknown\nReview for gene: UNC13B was set to RED\nAdded comment: No OMIM human disease association. Gene encodes a presynaptic protein Munc13-2 highly expressed in the brain (predominantly cerebral cortex). \r\n\r\nVariant interpretation data in human epilepsy cohort somewhat conflicting and restricted to a single study. Wang et al, Brain, 2021 - trio-based whole-exome sequencing identified UNC13B in 12 individuals affected by partial epilepsy and/or febrile seizures from 8 unrelated families. Identified:\r\nx1 de novo nonsense variant, absent in gnomad, damaging in silicos\r\nx1 de novo splice site, absent in gnomad, damaging in silicos\r\nx1 de novo splice site in unaffected mother (low frequency in gnomad)\r\nx2 compound het in one individual - more severe phenotype postulated (x1 variant present in contro cohortl, the other variant present in low frequency in gnomad)\r\nx1 missense variant - in Han Chinese major depressive disorders study, not in gnomad\r\nx1 missense variant - highly conserved residue, not in gnomad\r\nx2 other missense variant - highly conserved residue, low frequency in gnomad\r\nLatter 4 missense variants cosegregated with affected individuals in the families\r\n\r\nIn Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila\r\n\r\nDe novo UNC13B variants previously reported in bipolar disorder and autism spectrum disorder \nSources: Expert list, Literature",
"entity_name": "UNC13B",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:08:18.137835+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VARS2 as ready",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:08:18.126383+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vars2 has been classified as Green List (High Evidence).",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:08:13.549863+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:07:33.320641+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VARS2 were set to ",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:07:01.009553+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:06:28.017175+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24827421, 25058219, 29137650, 29314548, 31064326, 31623496; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:05:49.065194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VARS2 as ready",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:05:49.055810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vars2 has been classified as Green List (High Evidence).",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:05:30.737549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:05:06.374845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VARS2 were set to ",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:04:45.558394+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:04:27.968784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24827421, 25058219, 29137650, 29314548, 31064326, 31623496; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:00:49.191198+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VARS2 as ready",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:00:49.180795+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vars2 has been classified as Green List (High Evidence).",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:00:44.116592+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VARS2 as Green List (high evidence)",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T20:00:44.106927+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vars2 has been classified as Green List (High Evidence).",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:27:45.291164+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1259",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: VARS2 was added\ngene: VARS2 was added to Genetic Epilepsy. Sources: Expert list,Literature\nMode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VARS2 were set to 27502409; 29137650; 31064326; 31623496\nPhenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917; Epilepsy\nReview for gene: VARS2 was set to GREEN\nAdded comment: Established gene associated with mitochondrial disorder. Heterogeneous clinical features reported including seizures, epilepsy, encephalopathy, microcephaly, global developmental delay, hypotonia, ataxia, dystonic movements, limb spasticity, hypertrophic cardiomyopathy, hyperlactaemia and MRI-B abnormalities. \nSources: Expert list, Literature",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:15:15.998433+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZDHHC15 as ready",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:15:15.988573+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zdhhc15 has been classified as Red List (Low Evidence).",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:15:09.626268+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZDHHC15 as Red List (low evidence)",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:15:09.616081+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zdhhc15 has been classified as Red List (Low Evidence).",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:13:03.532452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159; Childhood idiopathic epilepsy and sinus arrhythmia",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:12:41.591472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD4 were set to 31388190",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:12:16.891466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 34109749; Phenotypes: Childhood idiopathic epilepsy and sinus arrhythmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:11:17.810735+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM# 617159 to Sifrim-Hitz-Weiss syndrome, MIM# 617159; Childhood idiopathic epilepsy and sinus arrhythmia",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:10:49.014384+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD4 were set to 27479907; 27616479",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:10:08.178877+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD4 as Green List (high evidence)",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:10:08.167152+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Green List (High Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:09:38.350281+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHD4: Added comment: New publication, PMID 34109749: 8 individuals from 4 families with childhood idiopathic epilepsy and sinus arrhythmia. This may be a distinct gene-disease association as the variants were located outside of the typical domains associated with SHW syndrome (central regions from SNF2-like region to DUF1087 domain).; Changed rating: GREEN; Changed publications: 27479907, 27616479, 34109749; Changed phenotypes: Sifrim-Hitz-Weiss syndrome, MIM# 617159, Childhood idiopathic epilepsy and sinus arrhythmia",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:00:48.377884+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCM2 as ready",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:00:48.365354+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccm2 has been classified as Red List (Low Evidence).",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2021-10-05T18:00:42.085695+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCM2 was added\ngene: CCM2 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCM2 were set to 32702807\nPhenotypes for gene: CCM2 were set to Cerebral cavernous malformations-2, MIM#603284\nReview for gene: CCM2 was set to RED\nAdded comment: Rare reports of presentation with seizures following bleeding. \nSources: Expert Review",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2021-10-05T17:01:26.425366+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARS2 as ready",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T17:01:26.416207+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cars2 has been classified as Green List (High Evidence).",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T17:01:21.172092+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CARS2 as Green List (high evidence)",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T17:01:21.162158+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cars2 has been classified as Green List (High Evidence).",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:59:51.825802+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARS2 was added\ngene: CARS2 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARS2 were set to 25361775; 25787132; 30139652\nPhenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, MIM# 616672\nReview for gene: CARS2 was set to GREEN\nAdded comment: Three families reported with supportive functional data, epilepsy is a feature. \nSources: Expert Review",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:57:04.138140+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BPTF were set to 28942966; 33522091",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:56:43.687347+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BPTF were set to 28942966",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:56:27.821868+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BPTF as ready",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:56:27.809276+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bptf has been classified as Green List (High Evidence).",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:56:23.606729+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BPTF as Green List (high evidence)",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:56:23.595592+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bptf has been classified as Green List (High Evidence).",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:55:43.723099+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: BPTF: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:55:17.215692+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BPTF was added\ngene: BPTF was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BPTF were set to 33522091; 28942966\nPhenotypes for gene: BPTF were set to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755\nReview for gene: BPTF was set to GREEN\nAdded comment: Over 30 individuals reported, mostly de novo, some inherited variants. Reported features include seizures. \nSources: Literature",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:54:57.045147+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BPTF: Changed publications: 28942966, 33522091",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:51:08.616045+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL11A as ready",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:51:08.606065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11a has been classified as Green List (High Evidence).",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:51:01.834176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCL11A were changed from to Dias-Logan syndrome, MIM# 617101",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:50:45.335858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCL11A were set to ",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:50:26.308515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCL11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:50:04.404513+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453576, 32903878; Phenotypes: Dias-Logan syndrome, MIM# 617101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:49:19.086147+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL11A as ready",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:49:19.075403+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11a has been classified as Green List (High Evidence).",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:49:15.235431+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCL11A were changed from to Dias-Logan syndrome, MIM# 617101",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T16:48:43.028193+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCL11A were set to ",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T15:47:51.698971+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1250",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ZDHHC15 was added\ngene: ZDHHC15 was added to Genetic Epilepsy. Sources: Expert list,Literature\nMode of inheritance for gene: ZDHHC15 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ZDHHC15 were set to 34345675; 15915161; 26290131; 32989326\nPhenotypes for gene: ZDHHC15 were set to Mental retardation X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy\nReview for gene: ZDHHC15 was set to RED\nAdded comment: 1 reported case of an 18 yo M with hypotonic cerebral palsy, focal-onset epilepsy, cortical visual impairment, intellectual disability, autism spectrum disorder, anxiety, and aggressive behaviors with hemizygous p.H158R variant shown to affect protein function in yeast complementation assay (Lewis et al Neurology Genetics 2021 PMID 34345675).\r\n\r\n----\r\nOther background info:\r\n\r\nProtein function of x4 ZDHHC15 variants assessed by Lewis et al. x2 variants identified through Jin et al Nat Genet 2020 (PMID 32989326) - maternally inherited p.H158R and p.L13P. x1 identified through Gene Matcher p.S330P and x1 through GeneDx maternally inherited p.K115R. Only p.H158R variant shown to affect protein function. In Drosophilia model LoF variants caused flight and co-ordinated movement defects supporting role in motor dysfunction.\r\n\r\nConflicting evidence for ID phenotype\r\n\r\n1 case with intellectual disability and balanced translocation with breakpoints near the ZDHHC15 gene - functional studies showing absence of ZDHHC15 transcript variants. This patient showed skewed lyonization, with 100% inactivation of the normal X chromosome. PMID: 15915161\r\n\r\n1 case with NO intellectual disability and balanced translocation with breakpoints in the ZDHHC15 gene - functional studies showing no gene expression in the patient's peripheral blood (PMID 26290131) \nSources: Expert list, Literature",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-05T15:00:40.294053+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCL11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T15:00:01.641678+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453576, 32903878; Phenotypes: Dias-Logan syndrome, MIM# 617101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T14:58:17.188329+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL11A as ready",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T14:58:17.177761+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11a has been classified as Red List (Low Evidence).",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T14:58:09.051196+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCL11A was added\ngene: BCL11A was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BCL11A were set to 27453576; 32903878\nPhenotypes for gene: BCL11A were set to Dias-Logan syndrome, MIM#\t617101\nReview for gene: BCL11A was set to RED\nAdded comment: Epilepsy appears to be a rare feature of this syndrome. \nSources: Expert Review",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2021-10-05T11:32:34.534300+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP221 as ready",
"entity_name": "CFAP221",
"entity_type": "gene"
}
]
}