HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=472",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=470",
"results": [
{
"created": "2024-04-05T07:58:04.535966+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEPHS1 as Green List (high evidence)",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:58:04.520991+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sephs1 has been classified as Green List (High Evidence).",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:57:30.301481+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEPHS1 was added\ngene: SEPHS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SEPHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEPHS1 were set to 38531365\nPhenotypes for gene: SEPHS1 were set to Neurodevelopmental disorder, MONDO:0700092, SEPHS1-related\nReview for gene: SEPHS1 was set to GREEN\nAdded comment: Nine individuals from eight families with developmental delay, growth and feeding problems, hypotonia, and dysmorphic features, all with heterozygous missense variants in SEPHS1. Eight of these individuals had a recurrent variant at amino acid position 371 of SEPHS1 (p.Arg371Trp, p.Arg371Gln, and p.Arg371Gly); seven of these variants were known to be de novo. \nSources: Literature",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:56:54.869726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPHS1 as ready",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:56:54.859240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sephs1 has been classified as Green List (High Evidence).",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:56:35.514539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEPHS1 as Green List (high evidence)",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:56:35.505436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sephs1 has been classified as Green List (High Evidence).",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:55:44.759765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEPHS1 was added\ngene: SEPHS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEPHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEPHS1 were set to 38531365\nPhenotypes for gene: SEPHS1 were set to Neurodevelopmental disorder, MONDO:0700092, SEPHS1-related\nReview for gene: SEPHS1 was set to GREEN\nAdded comment: Nine individuals from eight families with developmental delay, growth and feeding problems, hypotonia, and dysmorphic features, all with heterozygous missense variants in SEPHS1. Eight of these individuals had a recurrent variant at amino acid position 371 of SEPHS1 (p.Arg371Trp, p.Arg371Gln, and p.Arg371Gly); seven of these variants were known to be de novo. \nSources: Literature",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:52:29.831503+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLUL as ready",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:52:29.823458+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glul has been classified as Green List (High Evidence).",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:52:07.670397+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLUL were changed from to Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related; Glutamine deficiency, congenital MIM#610015",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:51:33.921905+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLUL were set to ",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:51:02.443952+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:50:26.662284+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: 16267323, 21353613, 33150193; Phenotypes: Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related, Glutamine deficiency, congenital MIM#610015, disorder of amino acid metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:49:15.612721+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015 to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:48:34.946580+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:47:56.730492+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLUL: Added comment: Nine individuals with de novo variants in this gene and DEE. Seven out of nine were start-loss variants and two out of nine disrupted 5′ UTR splicing resulting in splice exclusion of the initiation codon.; Changed phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:47:11.533669+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism to Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related; Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:46:23.718717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-05T07:46:03.552917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-04-04T21:40:46.178138+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA4_ZFHX3_GGC as ready",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:40:46.162279+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:40:41.029629+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA4_ZFHX3_GGC as Green List (high evidence)",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:40:41.003313+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:39:54.836692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1671",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA4_ZFHX3_GGC as ready",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:39:54.828115+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1671",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:39:47.794262+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1671",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA4_ZFHX3_GGC as Green List (high evidence)",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:39:47.785031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1671",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:39:41.284918+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA4_ZFHX3_GGC was added\nSTR: SCA4_ZFHX3_GGC was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for STR: SCA4_ZFHX3_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA4_ZFHX3_GGC were set to 38035881; 38197134\nPhenotypes for STR: SCA4_ZFHX3_GGC were set to spinocerebellar ataxia type 4 MONDO:0010847\nReview for STR: SCA4_ZFHX3_GGC was set to GREEN\nSTR: SCA4_ZFHX3_GGC was marked as clinically relevant\nAdded comment: PMID: 38035881 - repeat expansion is identified in 5 Swedish ataxia families that developed balance and gait disturbances at 15 to 60 years of age and had sensory neuropathy and slow saccades. \r\nPMID: 38197134 - Poly-glycine GGC expansion in the last coding exon of ZFHX3 was identified in the original SCA4 Utah pedigree (Swedish origin) in the region of high linkage identified on 16q22. The expansion was also identified in an Iowa ataxia pedigree of Swedish ancestry. The expansion wasn’t identified in 11,258 exomes, 7,650 WGS probands without neurological phenotype, or 803 individuals with ataxia. Grch38 chr16:72787695–72787758\r\nNormal allele <30 repeats, 21 repeats is the most common (derived from 33,094 individuals)\r\nUndefined pathogenic 30-48 repeats\r\nDefinitive pathogenicity 48+ repeats \nSources: Literature",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:39:20.248834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1670",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA4_ZFHX3_GGC was added\nSTR: SCA4_ZFHX3_GGC was added to Mendeliome. Sources: Literature\nMode of inheritance for STR: SCA4_ZFHX3_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA4_ZFHX3_GGC were set to 38035881; 38197134\nPhenotypes for STR: SCA4_ZFHX3_GGC were set to spinocerebellar ataxia type 4 MONDO:0010847\nReview for STR: SCA4_ZFHX3_GGC was set to GREEN\nSTR: SCA4_ZFHX3_GGC was marked as clinically relevant\nAdded comment: PMID: 38035881 - repeat expansion is identified in 5 Swedish ataxia families that developed balance and gait disturbances at 15 to 60 years of age and had sensory neuropathy and slow saccades. \r\nPMID: 38197134 - Poly-glycine GGC expansion in the last coding exon of ZFHX3 was identified in the original SCA4 Utah pedigree (Swedish origin) in the region of high linkage identified on 16q22. The expansion was also identified in an Iowa ataxia pedigree of Swedish ancestry. The expansion wasn’t identified in 11,258 exomes, 7,650 WGS probands without neurological phenotype, or 803 individuals with ataxia. Grch38 chr16:72787695–72787758\r\nNormal allele <30 repeats, 21 repeats is the most common (derived from 33,094 individuals)\r\nUndefined pathogenic 30-48 repeats\r\nDefinitive pathogenicity 48+ repeats \nSources: Literature",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:31:40.333938+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA4_ZFHX3_GGC as ready",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:31:40.319255+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:31:28.369538+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA4_ZFHX3_GGC as Green List (high evidence)",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:31:28.360190+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T21:31:14.037456+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA4_ZFHX3_GGC was added\nSTR: SCA4_ZFHX3_GGC was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: SCA4_ZFHX3_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA4_ZFHX3_GGC were set to 38035881; 38197134\nPhenotypes for STR: SCA4_ZFHX3_GGC were set to spinocerebellar ataxia type 4 MONDO:0010847\nReview for STR: SCA4_ZFHX3_GGC was set to GREEN\nSTR: SCA4_ZFHX3_GGC was marked as clinically relevant\nAdded comment: PMID: 38035881 - repeat expansion is identified in 5 Swedish ataxia families that developed balance and gait disturbances at 15 to 60 years of age and had sensory neuropathy and slow saccades. \r\nPMID: 38197134 - Poly-glycine GGC expansion in the last coding exon of ZFHX3 was identified in the original SCA4 Utah pedigree (Swedish origin) in the region of high linkage identified on 16q22. The expansion was also identified in an Iowa ataxia pedigree of Swedish ancestry. The expansion wasn’t identified in 11,258 exomes, 7,650 WGS probands without neurological phenotype, or 803 individuals with ataxia. Grch38 chr16:72787695–72787758\r\nNormal allele <30 repeats, 21 repeats is the most common (derived from 33,094 individuals)\r\nUndefined pathogenic 30-48 repeats\r\nDefinitive pathogenicity 48+ repeats \nSources: Literature",
"entity_name": "SCA4_ZFHX3_GGC",
"entity_type": "str"
},
{
"created": "2024-04-04T20:39:13.525504+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2542",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZFHX3 as ready",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:39:13.513249+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2542",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zfhx3 has been classified as Green List (High Evidence).",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:38:48.204653+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2542",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZFHX3 as Green List (high evidence)",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:38:48.192564+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2542",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zfhx3 has been classified as Green List (High Evidence).",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:37:35.422955+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2541",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZFHX3 was added\ngene: ZFHX3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ZFHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFHX3 were set to 38508705\nPhenotypes for gene: ZFHX3 were set to developmental and epileptic encephalopathy MONDO:0100062\nReview for gene: ZFHX3 was set to GREEN\ngene: ZFHX3 was marked as current diagnostic\nAdded comment: 8 unrelated probands with biallelic variants and a phenotype consistent with DEE and childhood partial epilepsy. Also a supporting Drosophila Zfh2 knockdown model with seizure-like behaviour. \nSources: Literature",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:23:14.597827+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5757",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GTF3C5 as ready",
"entity_name": "GTF3C5",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:23:14.586509+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5757",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gtf3c5 has been classified as Green List (High Evidence).",
"entity_name": "GTF3C5",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:22:59.650005+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5757",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GTF3C5 as Green List (high evidence)",
"entity_name": "GTF3C5",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:22:59.638250+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5757",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gtf3c5 has been classified as Green List (High Evidence).",
"entity_name": "GTF3C5",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:22:20.566658+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5756",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GTF3C5 was added\ngene: GTF3C5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GTF3C5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF3C5 were set to 38520561; 35503477\nPhenotypes for gene: GTF3C5 were set to neurodevelopmental disorder MONDO:0700092, GTF3C5-related\nReview for gene: GTF3C5 was set to GREEN\ngene: GTF3C5 was marked as current diagnostic\nAdded comment: 4 families/probands with syndromic ID. Loss of function is the expected\r\nPMID: 38520561 - Biallelic variants identified (3 missense & 1 stopgain) in 4 individuals from 3 families presenting with multisystem developmental syndrome including the features: growth retardation, developmental delay, intellectual disability, dental anomalies, cerebellar malformations, delayed bone age, skeletal anomalies, and facial dysmorphism. Gene-disease relationship supported by: reduced protein expression in patient cells, yeast assays, and a zebrafish model\r\nPMID: 35503477 - 1 proband with biallelic missense variants and hypomelanosis of Ito, seizures, growth retardation, abnormal brain MRI, developmental delay, and facial dysmorphism \nSources: Literature",
"entity_name": "GTF3C5",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:20:08.457034+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1669",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GTF3C5 as ready",
"entity_name": "GTF3C5",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:20:08.445147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1669",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gtf3c5 has been classified as Green List (High Evidence).",
"entity_name": "GTF3C5",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:19:45.471043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1669",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GTF3C5 as Green List (high evidence)",
"entity_name": "GTF3C5",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:19:45.459394+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1669",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gtf3c5 has been classified as Green List (High Evidence).",
"entity_name": "GTF3C5",
"entity_type": "gene"
},
{
"created": "2024-04-04T20:19:27.141597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1668",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GTF3C5 was added\ngene: GTF3C5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GTF3C5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF3C5 were set to 38520561; 35503477\nPhenotypes for gene: GTF3C5 were set to neurodevelopmental disorder MONDO:0700092, GTF3C5-related\nReview for gene: GTF3C5 was set to GREEN\nAdded comment: 4 families/probands with syndromic ID. Loss of function is the expected \r\nPMID: 38520561 - Biallelic variants identified (3 missense & 1 stopgain) in 4 individuals from 3 families presenting with multisystem developmental syndrome including the features: growth retardation, developmental delay, intellectual disability, dental anomalies, cerebellar malformations, delayed bone age, skeletal anomalies, and facial dysmorphism. Gene-disease relationship supported by: reduced protein expression in patient cells, yeast assays, and a zebrafish model\r\nPMID: 35503477 - 1 proband with biallelic missense variants and hypomelanosis of Ito, seizures, growth retardation, abnormal brain MRI, developmental delay, and facial dysmorphism \nSources: Literature",
"entity_name": "GTF3C5",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:41:08.006172+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV, MIM# 252650; MONDO:0009653 to Mucolipidosis IV, MIM# 252650; MONDO:0009653; Lisch epithelial corneal dystrophy, OMIM# 620763",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:40:46.059621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCOLN1 were set to ",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:40:20.834479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCOLN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:39:52.951412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCOLN1: Added comment: PMID 37972748: 23 affected individuals from 13 families with Lisch epithelial corneal dystrophy. WGS in 2 families and then targeted Sanger sequencing in the other families identified 9 rare heterozygous loss of function variants in MCOLN1. Homozygous and compound-heterozygous state of 4 of 9 LECD-associated variants cause Mucolipidosis IV (MLIV), which comprises neurodegeneration as well as corneal opacity of infantile-onset with epithelial autofluorescent lysosomal inclusions. Six parents of 3 patients with MLIV confirmed to carry pathogenic MCOLN1 variants did not have the LECD phenotype. Heterozygous MCOLN1 variants can be associated with incomplete penetrance and variable expressivity of LECD with an estimated penetrance of 0.2% for MCOLN1 loss-of-function variants based on gnomAD.; Changed publications: 37972748; Changed phenotypes: Mucolipidosis IV, MIM# 252650, MONDO:0009653, Lisch epithelial corneal dystrophy, OMIM# 620763; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:38:49.566452+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCOLN1 as ready",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:38:49.551459+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcoln1 has been classified as Green List (High Evidence).",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:35:57.344107+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP295 as ready",
"entity_name": "CEP295",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:35:57.332440+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep295 has been classified as Green List (High Evidence).",
"entity_name": "CEP295",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:34:40.740262+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP295 as ready",
"entity_name": "CEP295",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:34:40.724102+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep295 has been classified as Green List (High Evidence).",
"entity_name": "CEP295",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:34:27.257126+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP295 as ready",
"entity_name": "CEP295",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:34:27.244019+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep295 has been classified as Green List (High Evidence).",
"entity_name": "CEP295",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:34:00.988879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP295 as ready",
"entity_name": "CEP295",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:34:00.973943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep295 has been classified as Green List (High Evidence).",
"entity_name": "CEP295",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:33:08.260237+11:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLXNB2 were changed from Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related to Syndromic disease MONDO:0002254, PLXNB2 -related",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:32:49.278365+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLXNB2 were changed from Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related to Syndromic disease MONDO:0002254, PLXNB2 -related",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:32:06.602356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLXNB2 were changed from Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related to Syndromic disease MONDO:0002254, PLXNB2 -related",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:31:32.378750+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLXNB2 were changed from Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related to Syndromic disease MONDO:0002254, PLXNB2 -related",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:30:11.794801+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNB2 as ready",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:30:11.768973+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxnb2 has been classified as Green List (High Evidence).",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:29:52.885177+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNB2 as ready",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:29:52.874720+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxnb2 has been classified as Green List (High Evidence).",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:29:43.425445+11:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNB2 as ready",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:29:43.413002+11:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxnb2 has been classified as Green List (High Evidence).",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:29:01.317603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNB2 as ready",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:29:01.295054+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxnb2 has been classified as Green List (High Evidence).",
"entity_name": "PLXNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:27:13.488710+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ2 were changed from Andersen Tawil syndrome, LQTS to catecholaminergic polymorphic ventricular tachycardia MONDO:0017990",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:26:32.806420+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ2 as Red List (low evidence)",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:26:32.793804+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Red List (Low Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:25:23.639509+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNB2 as ready",
"entity_name": "KCNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:25:23.629415+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:25:14.686935+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNB2 as Amber List (moderate evidence)",
"entity_name": "KCNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:25:14.671954+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:24:27.448509+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNB2 was added\ngene: KCNB2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KCNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNB2 were set to 38503299\nPhenotypes for gene: KCNB2 were set to neurodevelopmental disorder MONDO:0700092, KCNB2-related\nReview for gene: KCNB2 was set to AMBER\nAdded comment: 7 individuals, all missense\r\n5 de novo + 1x inherited from father who has hypotonia + 1x from asymptomatic father\r\n\r\n2/5 MRI anomalies\r\n2/5 cardiac anomalies\r\n2/7 urogenital anomalies\r\n7/7 with ID\r\n2/7 epilepsy\r\n2/7 hypotonia \nSources: Literature",
"entity_name": "KCNB2",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:20:33.450901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRYL as Green List (high evidence)",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:20:33.436307+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fryl has been classified as Green List (High Evidence).",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:20:21.196999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRYL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, FRYL-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:19:00.394239+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPV5 as ready",
"entity_name": "TRPV5",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:19:00.373025+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpv5 has been classified as Red List (Low Evidence).",
"entity_name": "TRPV5",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:18:51.744541+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPV5 was added\ngene: TRPV5 was added to Renal Tubulopathies and related disorders. Sources: Literature\nMode of inheritance for gene: TRPV5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRPV5 were set to 38528055; 14679186\nPhenotypes for gene: TRPV5 were set to TRPV5-related hypercalciuria (MONDO:0009550)\nReview for gene: TRPV5 was set to RED\nAdded comment: Not a well-established gene-disease association. Has only been reported in one consanguineous family.\r\n\r\nPMID: 38528055\r\n3 individuals from the same family affected with hypercalciuria.\r\nBiallelic Met598Val variant was identified in the proband and his two affect sibs\r\n\r\nFunctional assay using WT and mutant plasmid vectors were transfected into HEK293T cells. The assay showed that the mutant vector had a non-functional TRPV5 channel as compared to the WT however no positive control was used.\r\n\r\nPMID: 14679186\r\nTRPV5 knockout mice model was used to assess whether the abolishment of TRPV5 led to a disruption in Ca2+ handling. The effects of the disruption in Ca2+ handling resulted in bone abnormalities in the mice and is likely the cause of idiopathic hypercalciuria. \nSources: Literature",
"entity_name": "TRPV5",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:16:40.938804+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DISP1 were changed from Holoprosencephaly, MONDO:0016296 to Holoprosencephaly (MONDO:0016296), DISP1-related",
"entity_name": "DISP1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:16:27.394318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DISP1 were set to 27363716; 19184110; 26748417; 23542665",
"entity_name": "DISP1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:16:11.149589+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DISP1 was changed from Other to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DISP1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:16:00.538878+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DISP1 as Green List (high evidence)",
"entity_name": "DISP1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:16:00.520390+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: disp1 has been classified as Green List (High Evidence).",
"entity_name": "DISP1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:15:46.360368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DISP1: Added comment: PMID: 38529886\r\n25 individuals from 20 unrelated families with a phenotype associated with mild holoprosencephaly (HPE).\r\nA total of 23 different variants were identified in DISP1 (missense, frameshift and nonsense).\r\n14 heterozygous individuals , 5 compound heterozygous individuals, 6 homozygous individuals (5 of the individuals were from 3 unrelated consanguineous families).\r\n\r\nHPE phenotype was also seen prenatally as one of the reported monoallelic individuals was a fetus at 20+6 GW prior to passing due to MTP.; Changed rating: GREEN; Changed publications: 19184110, 26748417, 23542665, 38529886; Changed phenotypes: Holoprosencephaly (MONDO:0016296), DISP1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DISP1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:14:58.986374+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DISP1 were changed from Holoprosencephaly, MONDO:0016296 to Holoprosencephaly (MONDO:0016296), DISP1-related",
"entity_name": "DISP1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:14:24.880541+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DISP1 were set to 19184110; 26748417; 23542665",
"entity_name": "DISP1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:13:49.233317+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DISP1 was changed from Other to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DISP1",
"entity_type": "gene"
},
{
"created": "2024-04-04T18:13:14.854606+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DISP1 as Green List (high evidence)",
"entity_name": "DISP1",
"entity_type": "gene"
}
]
}