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{
"count": 221385,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1821",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1819",
"results": [
{
"created": "2020-04-24T17:04:12.127990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DGCR8 as Red List (low evidence)",
"entity_name": "DGCR8",
"entity_type": "gene"
},
{
"created": "2020-04-24T17:04:12.116312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dgcr8 has been classified as Red List (Low Evidence).",
"entity_name": "DGCR8",
"entity_type": "gene"
},
{
"created": "2020-04-24T16:39:00.662017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "changed review comment from: Still a rare disease gene for ectodermal dysplasia but has been reported in at least 3 unrelated families. Functional study supported LoF. (PMIDs: 27736875, 30046887); to: Still a rare disease gene for ectodermal dysplasia but has been reported in at least 3 unrelated families in 2 papers. Functional study supported LoF. (PMIDs: 27736875, 30046887)",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2020-04-24T16:28:52.371310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: TSPEAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27736875, 30046887; Phenotypes: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2020-04-24T15:41:51.212062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - > 3 unrelated families\r\n- Functional studies on patient fibroblasts, HeLa and HEK293 cells harbouring mutant constructs demonstrate constitutive tyrosine kinase activation (gain of function) compared with WT constructs; to: - > 3 unrelated individuals diagnosed with Penttinen syndrome\r\n- Functional studies on patient fibroblasts, HeLa and HEK293 cells harbouring mutant constructs demonstrate constitutive tyrosine kinase activation (gain of function) compared with WT constructs",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-04-24T15:40:08.037284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30573803, 26279204; Phenotypes: Premature aging syndrome, Penttinen type, 601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-04-24T15:40:03.495219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 9 affected males in a single 5-generation pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate. \r\nSources: Literature; to: Y-linked inheritance pattern. Complete segregation of a missense variant demonstrated in 9 affected males in a 5-generation pedigree. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate. \r\nSources: Literature",
"entity_name": "TBL1Y",
"entity_type": "gene"
},
{
"created": "2020-04-24T15:38:29.652735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 9 affected males in a single pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate. \nSources: Literature; to: 9 affected males in a single 5-generation pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate. \r\nSources: Literature",
"entity_name": "TBL1Y",
"entity_type": "gene"
},
{
"created": "2020-04-24T15:37:56.990461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TBL1Y was added\ngene: TBL1Y was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TBL1Y was set to Other\nPublications for gene: TBL1Y were set to 30341416\nPhenotypes for gene: TBL1Y were set to Hearing loss\nReview for gene: TBL1Y was set to RED\ngene: TBL1Y was marked as current diagnostic\nAdded comment: 9 affected males in a single pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate. \nSources: Literature",
"entity_name": "TBL1Y",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:18:22.891207+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXF2 as ready",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:18:22.877176+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:18:10.387930+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXF2 as Amber List (moderate evidence)",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:18:10.379222+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:17:40.384805+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXF2 was added\ngene: FOXF2 was added to Deafness. Sources: Literature\nMode of inheritance for gene: FOXF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FOXF2 were set to 30561639; 22022403\nPhenotypes for gene: FOXF2 were set to profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea\nReview for gene: FOXF2 was set to AMBER\nAdded comment: Single family: variant has functional data to demonstrate effect on protein, plus mouse model supports gene-disease association. \nSources: Literature",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:16:11.051484+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDRD7 as ready",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:16:11.042019+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdrd7 has been classified as Green List (High Evidence).",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:15:51.724754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXF2 as ready",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:15:51.719042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Single family: variant has functional data to demonstrate effect on protein, plus mouse model supports gene-disease association.",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:15:51.677288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:15:13.721960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXF2 as Amber List (moderate evidence)",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:15:13.712874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:12:28.661431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2610",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: DGCR8 was added\ngene: DGCR8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DGCR8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DGCR8 were set to 31805011\nPhenotypes for gene: DGCR8 were set to Early-onset multinodular goiter and schwannomatosis\nReview for gene: DGCR8 was set to RED\nAdded comment: A germline missense variant segregates in one family with autosomal dominant mendelian tumor susceptibility syndrome: familial multinodular goiter (MNG) with schwannomatosis. The missense is also a recurrent somatic missense variant in Wilms tumour. (PMID:31805011) \nSources: Literature",
"entity_name": "DGCR8",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:12:03.702995+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TDRD7 were changed from to Cataract 36 613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:11:41.290294+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TDRD7 were set to ",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:10:52.758841+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TDRD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:10:23.419944+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 28837160, 21436445; Phenotypes: Cataract 36 613887, glaucoma, nonobstructive azoospermia, arrested spermatogenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:09:34.087825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TDRD7 were changed from to Cataract 36\t613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:09:02.312827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TDRD7 were set to ",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-04-24T12:08:40.728780+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TDRD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-04-24T11:58:08.486252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2607",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28837160, 21436445; Phenotypes: cataract, glaucoma, nonobstructive azoospermia, arrested spermatogenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-04-24T11:28:45.157107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2607",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).\r\nThis gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403). \nSources: Literature; to: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).\r\nThis gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403). \r\nPrevious names for FOXF2 include FKHL6 and FREAC2.\r\nSources: Literature",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-24T11:20:57.650709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2607",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "gene: FOXF2 was added\ngene: FOXF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FOXF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FOXF2 were set to PMID: 30561639; 22022403\nPhenotypes for gene: FOXF2 were set to profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea\nReview for gene: FOXF2 was set to AMBER\nAdded comment: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).\r\nThis gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403). \nSources: Literature",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2020-04-23T20:45:47.485050+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL13A1 as ready",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2020-04-23T20:45:47.472633+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col13a1 has been classified as Green List (High Evidence).",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2020-04-23T20:45:44.222355+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL13A1 were set to ",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2020-04-23T20:45:29.057292+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2020-04-23T20:44:30.189136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL13A1 as ready",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2020-04-23T20:44:30.177210+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col13a1 has been classified as Green List (High Evidence).",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2020-04-23T20:44:15.773951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL13A1 were changed from to Myasthenic syndrome, congenital, 19 (OMIM #616720)",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2020-04-23T20:43:53.600763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL13A1 were set to ",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2020-04-23T20:43:32.248240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2020-04-23T20:41:54.197595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317 to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317; primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-04-23T20:40:44.621544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-04-23T19:47:26.924694+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2602",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2020-04-23T19:03:36.906232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2602",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29910000, 31009047; Phenotypes: Basal ganglia calcification, idiopathic, 7, autosomal recessive (OMIM #618317), primary familial brain calcifications (PFBC), ataxia, dysarthria, cerebellar atrophy, akinetic-hypertonic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-04-23T14:25:59.211528+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CACNA1A as Green List (high evidence)",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-23T14:25:59.207580+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Ataxia can be caused by a triplet repeat expansion in this gene, which is not detectable with current WES/WGS technologies. However, SNVs have also been reported as disease-causing.",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-23T14:25:59.183962+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-23T14:25:51.396694+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: CACNA1A.",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:34:33.233458+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPEF2: Changed phenotypes: Spermatogenic failure 43, MIM#618751, Primary ciliary dyskinesia-like phenotype",
"entity_name": "SPEF2",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:25:10.427844+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMPR as ready",
"entity_name": "GMPR",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:25:10.419555+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmpr has been classified as Red List (Low Evidence).",
"entity_name": "GMPR",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:22:46.212879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: One multigenerational family and supportive animal model data.; to: One multigenerational family with ataxia and supportive animal model data.",
"entity_name": "CACNB4",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:22:21.618079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CACNB4: Added comment: PMID 32176688: A homozygous missense variant (Leu126Pro) reported in two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy. Some functional data.; Changed publications: 10762541, 9628818, 27003325, 32176688; Changed phenotypes: Episodic ataxia, type 5, MIM#613855, Intellectual disability, Epilepsy, Movement disorder",
"entity_name": "CACNB4",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:14:34.685592+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP55 as ready",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:14:34.672972+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Green List (High Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:14:22.765971+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP55 as Green List (high evidence)",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:14:22.752169+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Green List (High Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:11:40.588581+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP55 was added\ngene: CEP55 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP55 were set to 32100459\nPhenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#\t236500; Microcephaly; Intellectual disability\nReview for gene: CEP55 was set to GREEN\nAdded comment: Homozygous nonsense variants in CEP55 are associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel-like syndrome. New report of seven living individuals from five families with biallelic CEP55 variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all had a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants. Three siblings were homozygous for a consensus splice site variant near the end of the gene. These affected girls all had severely delayed development, microcephaly, and varying degrees of lissencephaly/pachygyria. This series suggests that individuals with compound heterozygosity for nonsense and missense variants in CEP55 have a different viable phenotype. \nSources: Literature",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:10:24.693689+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP55 as ready",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:10:24.681672+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Green List (High Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:10:21.987572+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP55 as Green List (high evidence)",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:10:21.978317+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Green List (High Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-23T13:09:25.654687+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP55 was added\ngene: CEP55 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP55 were set to 32100459\nPhenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#\t236500; Microcephaly; Intellectual disability\nReview for gene: CEP55 was set to GREEN\nAdded comment: Homozygous nonsense variants in CEP55 are associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel-like syndrome. New report of seven living individuals from five families with biallelic CEP55 variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all had a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants. Three siblings were homozygous for a consensus splice site variant near the end of the gene. These affected girls all had severely delayed development, microcephaly, and varying degrees of lissencephaly/pachygyria. This series suggests that individuals with compound heterozygosity for nonsense and missense variants in CEP55 have a different viable phenotype. \nSources: Literature",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-23T12:52:25.518568+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR83OS as ready",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2020-04-23T12:52:25.509428+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr83os has been classified as Red List (Low Evidence).",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2020-04-23T12:52:05.912469+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR83OS was added\ngene: WDR83OS was added to Cholestasis. Sources: Literature\nMode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR83OS were set to 30250217\nPhenotypes for gene: WDR83OS were set to Cholestasis\nReview for gene: WDR83OS was set to RED\nAdded comment: - 1 consanguineous family with 3 affected individuals found to carry a homozygous splice site variant in WDR83OS - The variant results in an aberrant truncated RNA transcript as demonstrated by RT-PCR \nSources: Literature",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2020-04-23T12:50:19.711811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR83OS as ready",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2020-04-23T12:50:19.703071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr83os has been classified as Red List (Low Evidence).",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2020-04-23T12:50:10.701767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR83OS were set to PMID: 30250217",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2020-04-23T12:49:48.037299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR83OS as Red List (low evidence)",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2020-04-23T12:49:48.028578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr83os has been classified as Red List (Low Evidence).",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2020-04-23T10:43:03.628893+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Fatty Oxidation Defects to Fatty Acid Oxidation Defects",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-23T10:40:25.051059+10:00",
"panel_name": "Fatty Oxidation Defects",
"panel_id": 103,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACADSB was added\ngene: ACADSB was added to Fatty Oxidation Defects. Sources: Expert list\nMode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACADSB were set to 11013134; 17945527; 30730842\nPhenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria MIM#610006\nReview for gene: ACADSB was set to GREEN\nAdded comment: The enzyme catalyses the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. SBCAD deficiency is symptomatic in about 10% of reported patients. \nSources: Expert list",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-04-23T10:30:52.819488+10:00",
"panel_name": "Fatty Oxidation Defects",
"panel_id": 103,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OXCT1 as Green List (high evidence)",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2020-04-23T10:30:52.807687+10:00",
"panel_name": "Fatty Oxidation Defects",
"panel_id": 103,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: oxct1 has been classified as Green List (High Evidence).",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2020-04-23T10:30:06.202204+10:00",
"panel_name": "Fatty Oxidation Defects",
"panel_id": 103,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OXCT1 was added\ngene: OXCT1 was added to Fatty Oxidation Defects. Sources: Expert list\nMode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXCT1 were set to 8751852; 10964512; 28178565\nPhenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050\nReview for gene: OXCT1 was set to GREEN\nAdded comment: The enzyme catalyses the first step of ketone body utilization, ketone bodies are produced predominantly in the liver from fatty acid oxidation-derived acetyl-coenzyme A (CoA), and they are transported to extrahepatic tissues for terminal oxidation. At least 4 cases reported with the condition. \nSources: Expert list",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2020-04-23T09:58:40.277279+10:00",
"panel_name": "Fatty Oxidation Defects",
"panel_id": 103,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACAT1 as Green List (high evidence)",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-04-23T09:58:40.264270+10:00",
"panel_name": "Fatty Oxidation Defects",
"panel_id": 103,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acat1 has been classified as Green List (High Evidence).",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-04-23T09:56:34.833945+10:00",
"panel_name": "Fatty Oxidation Defects",
"panel_id": 103,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACAT1 was added\ngene: ACAT1 was added to Fatty Oxidation Defects. Sources: Expert list\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACAT1 were set to 17236799; 1715688\nPhenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria\tMIM#203750; Deficiency of acetyl-CoA acetyltransferase\nReview for gene: ACAT1 was set to GREEN\nAdded comment: Is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA. Biallelic variants have been identified in at least 7 families. \nSources: Expert list",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-04-23T09:02:12.085588+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LSR as ready",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T09:02:12.076235+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T09:02:05.776664+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LSR as Amber List (moderate evidence)",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T09:02:05.763434+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T09:01:37.222105+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LSR was added\ngene: LSR was added to Cholestasis. Sources: Literature\nMode of inheritance for gene: LSR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSR were set to 32303357; 30250217\nPhenotypes for gene: LSR were set to transient neonatal cholestasis; intellectual disability; short stature\nReview for gene: LSR was set to AMBER\nAdded comment: Two families reported. \nSources: Literature",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T09:00:15.136093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LSR as ready",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T09:00:15.126591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T09:00:03.954437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LSR were set to PMID: 30250217",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:59:29.446764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LSR as Amber List (moderate evidence)",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:59:29.437800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:59:16.524736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2598",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: WDR83OS was added\ngene: WDR83OS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR83OS were set to PMID: 30250217\nPhenotypes for gene: WDR83OS were set to Cholestasis\nReview for gene: WDR83OS was set to RED\nAdded comment: - 1 consanguineous family with 3 affected individuals found to carry a homozygous splice site variant in WDR83OS \r\n- The variant results in an aberrant truncated RNA transcript as demonstrated by RT-PCR \nSources: Literature",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:59:09.139203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 32303357, 30250217; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:58:06.732279+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:51:14.480592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LSR as Green List (high evidence)",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:51:14.467264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsr has been classified as Green List (High Evidence).",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:50:45.346025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 32303357; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:49:40.987566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LSR as Amber List (moderate evidence)",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:49:40.974419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:48:43.359732+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP53 as ready",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2020-04-23T08:48:43.346045+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp53 has been classified as Green List (High Evidence).",
"entity_name": "USP53",
"entity_type": "gene"
}
]
}