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{
"count": 220403,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=945",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=943",
"results": [
{
"created": "2022-03-09T12:11:38.771428+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.705",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: None",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2022-03-09T12:11:33.661087+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1463",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:46:19.697082+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT83 as ready",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:46:19.686594+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt83 has been classified as Red List (Low Evidence).",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:46:13.021026+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT83 was added\ngene: KRT83 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review\nMode of inheritance for gene: KRT83 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KRT83 were set to 27965375\nPhenotypes for gene: KRT83 were set to Erythrokeratodermia variabilis et progressiva 5, MIM# 617756\nReview for gene: KRT83 was set to RED\nAdded comment: Single family reported. \nSources: Expert Review",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:44:15.654077+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT83 were set to 31332722",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:43:57.041279+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT83 as ready",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:43:57.031838+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt83 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:43:52.655567+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT83 as Amber List (moderate evidence)",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:43:52.645135+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt83 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:43:44.096296+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: None; Publications: 15744029, 25557232; Phenotypes: Monilethrix , MIM#158000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:42:39.245383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT83 as ready",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:42:39.236193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt83 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:42:29.945450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT83 were changed from to Erythrokeratodermia variabilis et progressiva 5, MIM# 617756; Monilethrix , MIM#158000",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:42:09.805886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT83 were set to ",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:41:45.667053+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT83 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:41:10.615146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT83 as Amber List (moderate evidence)",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:41:10.605172+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt83 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:40:53.628076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: None; Publications: 27965375, 15744029, 25557232; Phenotypes: Erythrokeratodermia variabilis et progressiva 5, MIM# 617756, Monilethrix , MIM#158000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T17:59:59.051142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11199",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PNPLA3: Rating: RED; Mode of pathogenicity: None; Publications: 18820647; Phenotypes: Susceptibility to nonalcoholic fatty liver disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PNPLA3",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:11:24.905388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT10 as ready",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:11:24.895943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt10 has been classified as Green List (High Evidence).",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:11:13.978840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT10 were changed from to Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis with confetti, MIM#609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:10:49.016266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT10 were set to ",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:10:11.823591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRT10 was changed from Other to None",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:09:47.063896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRT10 was changed from to Other",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:09:22.396570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT10 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:58:06.282374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERLEC1 as ready",
"entity_name": "ERLEC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:58:06.268971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erlec1 has been classified as Green List (High Evidence).",
"entity_name": "ERLEC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:55:59.464940+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ERLEC1 were changed from Class III malocclusion to autosomal dominant prognathism MONDO:0008312",
"entity_name": "ERLEC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:20:52.923117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB4 were changed from Amyotrophic lateral sclerosis 19, MIM# MIM#615515; Intellectual disability to Amyotrophic lateral sclerosis 19, MIM# MIM#615515; Intellectual disability MONDO:0001071",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:56:57.832939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: X-LINKED: heterozygous females demonstrate more severe disease than hemizygous males",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:56:57.797246+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFNB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:56:16.994155+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: X-LINKED: heterozygous females demonstrate more severe disease than hemizygous males",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:56:16.949140+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFNB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:55:19.474248+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: X-LINKED: heterozygous females demonstrate more severe disease than hemizygous males",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:55:19.444810+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFNB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:54:17.954855+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.4",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NARS was added\ngene: NARS was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NARS were set to 32738225; 32788587\nPhenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092\nReview for gene: NARS was set to GREEN\nAdded comment: HGNC approved gene symbol - NARS1\r\n\r\nBoth mono allelic and biallelic variants associated with a progressive neurological disorder with onset in infancy. Antenatal features reported.\r\n\r\nPMID 32738225 - reports roband with de novo heterozygous variant - IUGR and oligohydramnios noted prenatally. At birth noted to have low weight and OFC for gestational age. Proband with homozygous variant diagnosed with microcephaly, seizures and FTT in the neonatal period. Proband with compound het variants born with a low weight (-2.38 SD) and height (-3.76 SD) for gestational age. Review of supplementary material table - microcephaly at birth reported in 17 unrelated families. \nSources: Literature",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:54:12.958758+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.111",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NARS was added\ngene: NARS was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NARS were set to 32738225; 32788587\nPhenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092\nReview for gene: NARS was set to GREEN\nAdded comment: HGNC approved gene symbol - NARS1\r\n\r\nBoth mono allelic and biallelic variants associated with a progressive neurological disorder with onset in infancy. Microcephaly a commonly reported feature. \nSources: Literature",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:32:33.089255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11192",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8152878, 15726110, 8723082, 27213289, 7551156; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NANS",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:32:28.725600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4537",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8152878, 15726110, 8723082, 27213289, 7551156; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NANS",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:27:22.289403+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.111",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NALCN was added\ngene: NALCN was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NALCN were set to 25683120; 23749988; 24075186; 30167850\nPhenotypes for gene: NALCN were set to Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419\nReview for gene: NALCN was set to GREEN\nAdded comment: Monoallelic NALCN missense variants reported in individuals with congenital contractures of the limbs and face, hypotonia, and developmental delay. \r\n\r\nBiallelic NALCN variants cause severe infantile hypotonia with psychomotor retardation and characteristic facial features. Microcephaly a reported feature. PMID: 30167850 report new cases with balletic variants and review previously published cases noting microcephaly in 14/21 individuals. \nSources: Literature",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:27:14.055721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11192",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120, 23749988, 24075186, 30167850; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266, Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:25:17.302403+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRX5 were set to 22581230",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:24:48.864960+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRX5 as Green List (high evidence)",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:24:48.854391+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irx5 has been classified as Green List (High Evidence).",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:24:16.198749+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581230, 27453922, 34899143; Phenotypes: Hamamy syndrome, MIM# 611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:23:12.069153+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRX5 as Green List (high evidence)",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:23:12.054089+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irx5 has been classified as Green List (High Evidence).",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:23:00.249887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRX5: Added comment: Third family with Hamamy syndrome and homozygous missense variant reported, p.Arg168His. Two cousins, >4 meioses, good segregation data.; Changed rating: GREEN; Changed publications: 22581230, 27453922, 34899143",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:21:16.289283+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRX5 were set to 22581230; 27453922",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:20:38.723173+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRX5 as Green List (high evidence)",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:20:38.709187+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irx5 has been classified as Green List (High Evidence).",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:20:22.568412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11192",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12594532, 17421020, 12459178, 12754705, 9877039; Phenotypes: N-acetylglutamate synthase deficiency - MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:20:03.192937+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRX5: Added comment: Third family with Hamamy syndrome and homozygous missense variant reported, p.Arg168His. Two cousins, >4 meioses, good segregation data. Intellectual disability.; Changed rating: GREEN; Changed publications: 22581230, 27453922, 34899143",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:16:30.398456+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRX5 were set to 27453922; 33891002; 28041643; 32045705; 22581230; 17230486",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:16:09.268487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: IRX5 was changed from to None",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:15:48.242093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRX5 as Green List (high evidence)",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:15:48.229700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irx5 has been classified as Green List (High Evidence).",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:14:58.272205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRX5: Added comment: Third family with Hamamy syndrome and homozygous missense variant reported, p.Arg168His. Two cousins, >4 meioses, good segregation data.\r\n\r\n4th family as part of large heterogenous cohort of consanguineous families also reported with homozygous frameshift (last exon), but limited phenotypic data.; Changed rating: GREEN; Changed publications: 22581230, 27453922, 34899143",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:12:00.892674+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11189",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132692; Phenotypes: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:15:09.985544+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.199",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:14:45.744987+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.199",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: NAA15: Added comment: Monoallelic variants associated with syndromic ID. At least 47 individuals from 42 unrelated families in the published literature. Phenotypic features reported include:\r\n\r\n- ID (all)\r\n- Mild dysmorphic features (20/30)\r\n- ASD/ADHD/behavioural issues (30/33)\r\n- Skeletal and connective tissue anomalies (10/22)\r\n- Congenital heart defects (4/19)\r\n- Hypertrophic cardiomyopathy (paediatric onset) - 2 unrelated individuals (PMID: 33103328)\r\n\r\nIn addition:\r\n\r\nPMID 33557580 - WES of 4511 patients with CHD identified 4 subjects with a rare LoF variant (allele frequency <0.00005) in the NAA15 gene, resulting in NAA15 haploinsufficiency. Parental analyses indicated that 3 of these LoF variants (p.Ser761*, p.Lys336Lys fs*6, and p.Arg470*) arose de novo in the probands. The inheritance of the p.Ala718fs variant is uncertain, as parental samples were unavailable. The authors also reference their previous studies identifying 2 other patients with CHD and LoF NAA15 heterozygous variants.; Changed phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787, congenital heart defect",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:04:57.807467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11189",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33103328, 29656860, 31127942, 28191889, 33557580, 28990276; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:04:54.818036+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.199",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NAA15 was added\ngene: NAA15 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NAA15 were set to 33103328; 29656860; 31127942; 28191889; 33557580; 28990276\nPhenotypes for gene: NAA15 were set to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787\nReview for gene: NAA15 was set to GREEN\nAdded comment: Monoallelic variants associated with syndromic ID. At least 47 individuals from 42 unrelated families in the published literature. Phenotypic features reported include:\r\n\r\n- ID (all)\r\n- Mild dysmorphic features (20/30)\r\n- ASD/ADHD/behavioural issues (30/33)\r\n- Skeletal and connective tissue anomalies (10/22)\r\n- Congenital heart defects (4/19)\r\n- Hypertrophic cardiomyopathy (paediatric onset) - 2 unrelated individuals (PMID: 33103328)\r\n\r\nIn addition:\r\n\r\nPMID 33557580 - WES of 4511 patients with CHD identified 4 subjects with a rare LoF variant (allele frequency <0.00005) in the NAA15 gene, resulting in NAA15 haploinsufficiency. Parental analyses indicated that 3 of these LoF variants (p.Ser761*, p.Lys336Lys fs*6, and p.Arg470*) arose de novo in the probands. The inheritance of the p.Ala718fs variant is uncertain, as parental samples were unavailable. The authors also reference their previous studies identifying 2 other patients with CHD and LoF NAA15 heterozygous variants. \nSources: Literature",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-08T08:46:33.398364+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.364",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EARS2 as ready",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-08T08:46:33.370708+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.364",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ears2 has been classified as Green List (High Evidence).",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-08T08:46:26.231952+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.364",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EARS2 were changed from to Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-08T08:45:56.140684+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.363",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EARS2 were set to ",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-08T08:45:26.887080+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.362",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-08T08:44:52.259496+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.361",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562, 23008233, 25854774, 26619324, 26893310, 27206875, 27571996, 27117034; Phenotypes: Leigh syndrome MONDO:0009723, Combined oxidative phosphorylation deficiency 12 MIM#614924, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:57:34.212431+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1463",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EARS2 as ready",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:57:34.202500+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1463",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ears2 has been classified as Green List (High Evidence).",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:56:54.864952+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1463",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EARS2 were changed from to Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:56:17.466459+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1462",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EARS2 were set to ",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:54:53.918821+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1461",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:54:09.687390+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1460",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562, 23008233, 25854774, 26619324, 26893310, 27206875, 27571996, 27117034; Phenotypes: Leigh syndrome MONDO:0009723, Combined oxidative phosphorylation deficiency 12 MIM#614924, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:44:47.859387+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.705",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EARS2 as ready",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:44:47.849594+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.705",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ears2 has been classified as Green List (High Evidence).",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:44:40.471361+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.705",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EARS2 were changed from to Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:43:47.554374+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.704",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EARS2 were set to ",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:43:10.392392+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.703",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:39:49.317266+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.702",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562, 23008233, 25854774, 26619324, 26893310, 27206875, 27571996, 27117034; Phenotypes: Leigh syndrome MONDO:0009723, Combined oxidative phosphorylation deficiency 12 MIM#614924, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:38:34.890351+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EARS2 as ready",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:38:34.879410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ears2 has been classified as Green List (High Evidence).",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:37:18.016888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EARS2 were changed from to Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:33:34.258011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EARS2 were set to ",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:30:44.534908+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T20:30:16.982173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562, 23008233, 25854774, 26619324, 26893310, 27206875, 27571996, 27117034; Phenotypes: Leigh syndrome MONDO:0009723, Combined oxidative phosphorylation deficiency 12 MIM#614924, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2022-03-07T19:27:09.959988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2022-03-07T19:26:52.322467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT8 as ready",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2022-03-07T19:26:52.312513+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt8 has been classified as Red List (Low Evidence).",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2022-03-07T19:25:59.943499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT8 were changed from to Cirrhosis, cryptogenic, MIM#\t215600",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2022-03-07T19:25:33.141774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT8 were set to ",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2022-03-07T19:25:14.056815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2022-03-07T19:21:31.440332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT8 as Red List (low evidence)",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2022-03-07T19:21:31.427218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt8 has been classified as Red List (Low Evidence).",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2022-03-07T19:20:37.717684+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT85 as ready",
"entity_name": "KRT85",
"entity_type": "gene"
},
{
"created": "2022-03-07T19:20:37.706637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt85 has been classified as Green List (High Evidence).",
"entity_name": "KRT85",
"entity_type": "gene"
},
{
"created": "2022-03-07T19:20:23.395653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT85 were changed from to Ectodermal dysplasia 4, hair/nail type MIM#602032",
"entity_name": "KRT85",
"entity_type": "gene"
}
]
}