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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1820",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1818",
"results": [
{
"created": "2020-04-27T12:35:25.900495+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.53",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: DKC1 was added\ngene: DKC1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: DKC1 were set to PMID: 31269755; 26951492; 29081935\nPhenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked\t305000; Hoyeraal-Hreidarsson Syndrome\nReview for gene: DKC1 was set to GREEN\nAdded comment: OMIM - Cerebellar ataxia (seen in HHS variant), Cerebellar hypoplasia (seen in HHS variant)\r\nHoyeraal-Hreidarsson Syndrome is the severe form of Dyskeratosis congenita\r\n\r\nPMID: 31269755 - 1 child with cerebellar hypoplasia, a hemizygous missense and Hoyeraal–Hreidarsson Syndrome*\r\n\r\nPMID: 26951492 - 1 child with pontocerebellar hypoplasia, a hemizygous missense and Hoyeraal–Hreidarsson Syndrome*\r\n\r\nPMID: 29081935 - 1 family (2 first cousins) with the same variant. One has DC, the other HHS and cerebellar hypoplasia*\r\n\r\nPMID: 24914498 - 1 baby (3 months old) with a missense in exon 3 and Hoyeraal-Hreidarsson syndrome and cerebellar atrophy.\r\n\r\n*All missense found close together in exon 11\r\n\r\nSummary: is a common feature of severe Hoyeraal-Hreidarsson syndrome \nSources: Expert Review",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2020-04-27T11:57:26.118809+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.53",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: SMPD4 was added\ngene: SMPD4 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMPD4 were set to 31495489\nPhenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622)\nReview for gene: SMPD4 was set to GREEN\nAdded comment: Cerebellar hypoplasia is a feature of the associated OMIM phenotype.\r\n\r\nMagini 2019: Reported 23 patients from 12 unrelated families. Cerebellar hypoplasia was one of the main features. \nSources: Expert Review",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-27T11:41:11.364143+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.53",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26235985, 30936465; Phenotypes: Mental retardation, X-linked 102 300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2020-04-27T11:23:23.190966+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.53",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: SNX14 was added\ngene: SNX14 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNX14 were set to 25439728; 24501761; 25848753\nPhenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)\nReview for gene: SNX14 was set to AMBER\nAdded comment: Not sure if cerebellar hypoplasia or atrophy. Appears to be mostly atrophy but early onset.\r\n\r\nGreen in PanelApp UK: \"Unclear if predominantly cerebellar atrophy/hypoplasia. Childhood presentation reported\" 2016\r\n\r\nThomas 2014: 7 affected individuals from 3 unrelated consanguineous families. Appears to be predominantly cerebellar atrophy, 4 of which were progressive.\r\n\r\nSousa 2014: Reported cerebellar hypotrophy in 2 sisters (>15 years old). Noted as cerebellar hypoplasia in OMIM.\r\n\r\nAkizu 2015: 12 families with cerebellar atrophy. Childhood-onset recessive cerebellar atrophy with ataxia (supp data indicates all <5 years old) \nSources: Expert Review",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2020-04-27T10:48:02.277207+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.53",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: TBCK: Changed publications: 27040692, 30103036, 27040691",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T10:47:20.642028+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.53",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TBCK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27040692; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T10:03:06.275899+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.53",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: TERT was added\ngene: TERT was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TERT were set to 17785587\nPhenotypes for gene: TERT were set to Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989)\nReview for gene: TERT was set to AMBER\nAdded comment: 1 patient reported with cerebellar hypoplasia.\r\n\r\nMarrone (2007): Reported hom missense (not in gnomAD) in 1 patient from consang fam with Hoyeraal-Hreidarsson syndrome, which is a severe variant of DKC \nSources: Expert Review",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2020-04-26T18:15:23.678100+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALT as ready",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-04-26T18:15:23.672558+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Only screened in Victoria as galactosaemia is not part of newborn screening.",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-04-26T18:15:23.631536+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galt has been classified as Amber List (Moderate Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-04-26T18:14:56.144170+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALT as Amber List (moderate evidence)",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-04-26T18:14:56.134365+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galt has been classified as Amber List (Moderate Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-04-26T18:12:40.924031+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease; New South Wales Health Pathology; PathWest",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-26T17:40:37.654083+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK19 as ready",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:40:37.641155+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk19 has been classified as Green List (High Evidence).",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:40:33.541410+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK19 as Green List (high evidence)",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:40:33.532891+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk19 has been classified as Green List (High Evidence).",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:40:03.783782+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK19 was added\ngene: CDK19 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDK19 were set to 32330417\nPhenotypes for gene: CDK19 were set to Intellectual disability; epileptic encephalopathy\nReview for gene: CDK19 was set to GREEN\nAdded comment: Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data. \nSources: Literature",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:38:38.049847+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK19 as ready",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:38:38.040371+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk19 has been classified as Green List (High Evidence).",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:38:31.930457+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK19 as Green List (high evidence)",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:38:31.917646+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk19 has been classified as Green List (High Evidence).",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:38:00.045605+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK19 was added\ngene: CDK19 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDK19 were set to 32330417\nPhenotypes for gene: CDK19 were set to Intellectual disability; epileptic encephalopathy\nReview for gene: CDK19 was set to GREEN\nAdded comment: Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data. \nSources: Literature",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:36:25.883391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK19 as ready",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:36:25.869150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk19 has been classified as Green List (High Evidence).",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:36:17.394288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK19 as Green List (high evidence)",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:36:17.382202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk19 has been classified as Green List (High Evidence).",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:35:51.393184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK19 was added\ngene: CDK19 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDK19 were set to 32330417\nPhenotypes for gene: CDK19 were set to Intellectual disability; epileptic encephalopathy\nReview for gene: CDK19 was set to GREEN\nAdded comment: Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data. \nSources: Literature",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:09:13.836487+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN23 as ready",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:09:13.825126+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn23 has been classified as Green List (High Evidence).",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:09:05.140209+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPN23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:08:30.529558+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPN23 were set to ",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:07:58.409698+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN23 were changed from to Intellectual disability; brain abnormalities; seizures; optic atrophy; microcephaly",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2020-04-26T17:07:23.066370+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947; Phenotypes: Intellectual disability, brain abnormalities, seizures, optic atrophy, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:55:19.270240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MNS1 as ready",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:55:19.257978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mns1 has been classified as Green List (High Evidence).",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:55:07.605715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MNS1 as Green List (high evidence)",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:55:07.597272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mns1 has been classified as Green List (High Evidence).",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:54:32.610920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MNS1 was added\ngene: MNS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MNS1 were set to 31534215; 30148830\nPhenotypes for gene: MNS1 were set to Heterotaxy; male infertility\nReview for gene: MNS1 was set to GREEN\nAdded comment: Eight families reported altogether, three LoF variants. Four Amish families share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder variant. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated. \nSources: Literature",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:51:28.502353+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MNS1 as ready",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:51:28.498157+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated.",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:51:28.476740+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mns1 has been classified as Green List (High Evidence).",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:51:00.788313+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MNS1 as Green List (high evidence)",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:51:00.776265+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mns1 has been classified as Green List (High Evidence).",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:50:32.858440+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MNS1 was added\ngene: MNS1 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MNS1 were set to 31534215; 30148830\nPhenotypes for gene: MNS1 were set to Heterotaxy; male infertility\nReview for gene: MNS1 was set to GREEN\nAdded comment: Eight families reported altogether. However, four are Amish and share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder variant. \nSources: Literature",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:37:13.280226+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, 616719 to Spinocerebellar ataxia, autosomal recessive 21, 616719; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2020-04-26T12:36:59.295848+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCYL1: Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719, Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:03:24.048787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX37 as ready",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:03:24.040280+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx37 has been classified as Green List (High Evidence).",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:03:15.017032+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHX37 as Green List (high evidence)",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:03:14.999718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx37 has been classified as Green List (High Evidence).",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:02:56.359857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHX37 was added\ngene: DHX37 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DHX37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHX37 were set to 31337883; 31745530\nPhenotypes for gene: DHX37 were set to 46,XY gonadal dysgenesis; testicular regression syndrome (TRS)\nReview for gene: DHX37 was set to GREEN\nAdded comment: Seventeen individuals with 46,XY gonadal dysgenesis reported in two studies. \nSources: Literature",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:01:03.301116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPK1 were changed from Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome; ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:00:31.294567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALPK1 as Green List (high evidence)",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:00:31.285868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpk1 has been classified as Green List (High Evidence).",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:00:08.428264+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX37 as ready",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:00:08.416980+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx37 has been classified as Green List (High Evidence).",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:00:04.066996+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHX37 as Green List (high evidence)",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-04-25T18:00:04.058180+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx37 has been classified as Green List (High Evidence).",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:59:35.819167+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHX37 was added\ngene: DHX37 was added to Disorders of Sex Differentiation. Sources: Literature\nMode of inheritance for gene: DHX37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHX37 were set to 31337883; 31745530\nPhenotypes for gene: DHX37 were set to 46,XY gonadal dysgenesis; testicular regression syndrome (TRS)\nReview for gene: DHX37 was set to GREEN\nAdded comment: Seventeen individuals reported in two studies. \nSources: Literature",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:55:01.304244+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAG1 as ready",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:55:01.290051+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:54:57.977477+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAG1 as Amber List (moderate evidence)",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:54:57.959372+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:54:49.727110+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to Vitreoretinopathy. Sources: Literature\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAG1 were set to 31273345\nPhenotypes for gene: JAG1 were set to Familial exudative vitreoretinopathy\nReview for gene: JAG1 was set to AMBER\nAdded comment: Three families reported with rare variants in JAG1: c.413C>T p. (A138V), c.1415G>A p. (R472H), and c.2884A>G p. (T962A. Some functional data. \nSources: Literature",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:48:36.829213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAMP2 as ready",
"entity_name": "RAMP2",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:48:36.820794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ramp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAMP2",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:48:27.570298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAMP2 as Amber List (moderate evidence)",
"entity_name": "RAMP2",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:48:27.561650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ramp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAMP2",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:48:08.466255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAMP2 was added\ngene: RAMP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAMP2 were set to 31000793\nPhenotypes for gene: RAMP2 were set to Primary open angle glaucoma\nReview for gene: RAMP2 was set to AMBER\nAdded comment: Six variants identified in 16 of 4763 POAG patients from large cohorts; none identified in 10,953 control individuals. Some functional data. \nSources: Literature",
"entity_name": "RAMP2",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:35:01.580124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling. \nSources: Literature; to: Three unrelated families reported with PFAPA phenotype. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling. \r\nSources: Literature",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:34:45.902493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALPK1: Added comment: Six unrelated families reported with same recurrent missense variant c.710C>T, (p.Thr237Met) and ROSAH syndrome phenotype. Pancytopaenia and recurrent infections present in some.; Changed rating: GREEN; Changed publications: 31053777, 30967659, 31939038; Changed phenotypes: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome, ROSAH syndrome, retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:13:13.662440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MEPE as Amber List (moderate evidence)",
"entity_name": "MEPE",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:13:13.649283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mepe has been classified as Amber List (Moderate Evidence).",
"entity_name": "MEPE",
"entity_type": "gene"
},
{
"created": "2020-04-25T17:12:54.172478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEPE was added\ngene: MEPE was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MEPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEPE were set to 30287925\nPhenotypes for gene: MEPE were set to hereditary congenital facial paresis; otosclerosis\nReview for gene: MEPE was set to AMBER\nAdded comment: Single four-generation family reported with variant in this gene segregating nonprogressive HCFP and mixed hearing loss (HL). Damaging variants (truncating/frameshift) found to be enriched in otosclerosis cohort (p = 0.0006–0.0060). \nSources: Literature",
"entity_name": "MEPE",
"entity_type": "gene"
},
{
"created": "2020-04-25T16:56:39.460115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAICS as ready",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2020-04-25T16:56:39.451326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: paics has been classified as Red List (Low Evidence).",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2020-04-25T16:56:27.869355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAICS was added\ngene: PAICS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAICS were set to 31600779\nPhenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities\nReview for gene: PAICS was set to RED\nAdded comment: Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function. \nSources: Literature",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2020-04-25T16:01:06.173668+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALM as ready",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T16:01:06.160491+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galm has been classified as Green List (High Evidence).",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T16:01:02.164305+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALM as Green List (high evidence)",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T16:01:02.155137+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galm has been classified as Green List (High Evidence).",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T16:00:32.008834+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALM was added\ngene: GALM was added to Cholestasis. Sources: Literature\nMode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALM were set to 30451973; 30910422\nPhenotypes for gene: GALM were set to type IV galactosaemia\nReview for gene: GALM was set to GREEN\nAdded comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)\r\n\r\nNote only two individuals were reported as having transient cholestasis. \nSources: Literature",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T15:58:39.098143+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALM as ready",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T15:58:39.087551+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galm has been classified as Green List (High Evidence).",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T15:58:01.624750+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALM as Green List (high evidence)",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T15:58:01.613357+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galm has been classified as Green List (High Evidence).",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T15:57:27.237624+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALM was added\ngene: GALM was added to Cataract. Sources: Literature\nMode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALM were set to 30451973; 30910422\nPhenotypes for gene: GALM were set to galactosaemia; type IV galactosaemia\nReview for gene: GALM was set to GREEN\nAdded comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)\r\n\r\nNote only two of the reported individuals had cataracts. \nSources: Literature",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T15:53:28.533682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALM as ready",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T15:53:28.525102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galm has been classified as Green List (High Evidence).",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T15:53:16.716507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALM as Green List (high evidence)",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T15:53:16.707573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galm has been classified as Green List (High Evidence).",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-25T12:14:54.534966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3GL as ready",
"entity_name": "POLR3GL",
"entity_type": "gene"
},
{
"created": "2020-04-25T12:14:54.531028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Three cases altogether but the phenotypes are very different -- may still represent a spectrum with the more severe phenotypes resulting from truncating variants but further cases needed.",
"entity_name": "POLR3GL",
"entity_type": "gene"
},
{
"created": "2020-04-25T12:14:54.500604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3gl has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3GL",
"entity_type": "gene"
},
{
"created": "2020-04-25T12:03:28.157270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3GL as Amber List (moderate evidence)",
"entity_name": "POLR3GL",
"entity_type": "gene"
},
{
"created": "2020-04-25T12:03:28.148857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3gl has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3GL",
"entity_type": "gene"
},
{
"created": "2020-04-24T18:29:10.081912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2620",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "gene: GALM was added\ngene: GALM was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALM were set to PMID: 30451973; 30910422\nPhenotypes for gene: GALM were set to galactosaemia; type IV galactosaemia\nReview for gene: GALM was set to GREEN\nAdded comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. \r\nIn vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973)\r\nIn vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422) \nSources: Literature",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-04-24T17:31:36.803156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2620",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: POLR3GL was added\ngene: POLR3GL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POLR3GL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3GL were set to 31089205; 31695177\nPhenotypes for gene: POLR3GL were set to endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy\nReview for gene: POLR3GL was set to AMBER\ngene: POLR3GL was marked as current diagnostic\nAdded comment: Biallelic canonical splice variants were identified in monozygotic twins and another individual with similar phenotypes from 2 unrelated families. Variants were inherited from carrier parents. RNA studies confirmed exon skipping occurs in all affected individuals.\r\n\r\nA separate study identified a homozygous nonsense variant in an individual with features of Neonatal progeroid syndrome/Wiedemann–Rautenstrauch syndrome. Quantitative PCR showed reduction in mRNA suggestive of NMD. \nSources: Literature",
"entity_name": "POLR3GL",
"entity_type": "gene"
},
{
"created": "2020-04-24T17:30:05.129997+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHF21A were changed from no OMIM number yet. to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725",
"entity_name": "PHF21A",
"entity_type": "gene"
}
]
}