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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1228",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1226",
"results": [
{
"created": "2021-08-24T08:38:02.171856+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDE6D as Green List (high evidence)",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T08:38:02.160878+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pde6d has been classified as Green List (High Evidence).",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-24T08:37:37.620686+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PDE6D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24166846; Phenotypes: Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2021-08-23T14:51:33.111088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8921",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA12 as ready",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-23T14:51:33.096490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8921",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca12 has been classified as Green List (High Evidence).",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-23T14:48:30.365547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8921",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA12 as Green List (high evidence)",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-23T14:48:30.356191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8921",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca12 has been classified as Green List (High Evidence).",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-23T14:47:48.179865+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8920",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA12 was added\nSTR: SCA12 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA12 were set to 27864267; 33811808\nPhenotypes for STR: SCA12 were set to Spinocerebellar ataxia 12 MIM#604326\nReview for STR: SCA12 was set to GREEN\nSTR: SCA12 was marked as clinically relevant\nAdded comment: NM_181675.3:c.27CAG[X]\r\nUncertain if CAG repeat encodes polyglutamine or instead effects expression of specific splice variants of the encoded phosphatase\r\nNormal: ≤32 repeats\r\nUncertain: ~40-50 repeats have been reported, 43 repeats is the lowest reported in an established affected individual in a family with SCA12\r\nEstablished pathogenic (used as diagnostic cut-off): ≥51 repeats \nSources: Expert list",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-23T13:20:23.251766+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU7-1 were changed from Aicardi–Goutières syndrome-like to Aicardi-Goutieres syndrome 9, MIM# 619487",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:20:08.289771+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 9, MIM# 619487; Mode of inheritance: None",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:19:54.718561+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU7-1 as ready",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:19:54.708855+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:19:52.330240+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU7-1 were changed from Aicardi–Goutières syndrome-like to Aicardi-Goutieres syndrome 9, MIM# 619487",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:19:34.800794+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 9, MIM# 619487; Mode of inheritance: None",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:19:16.168331+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU7-1 were changed from Aicardi–Goutières syndrome-like to Aicardi-Goutieres syndrome 9, MIM# 619487",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:18:40.776387+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 9, MIM# 619487; Mode of inheritance: None",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:18:21.053019+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU7-1 were changed from Aicardi–Goutières syndrome-like to Aicardi-Goutieres syndrome 9, MIM# 619487",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:17:54.729072+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU7-1: Changed phenotypes: Aicardi-Goutieres syndrome 9, MIM# 619487",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:17:36.697920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU7-1 were changed from Aicardi–Goutières syndrome-like to Aicardi-Goutieres syndrome 9, MIM# 619487",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:17:18.737549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 9, MIM# 619487; Mode of inheritance: None",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:16:44.272632+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU7-1 were changed from Aicardi–Goutières syndrome-like to Aicardi-Goutieres syndrome 9, MIM# 619487",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:16:08.243171+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 9, MIM# 619487; Mode of inheritance: None",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:15:19.360964+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LSM11 were changed from type I interferonopathy Aicardi–Goutières syndrome to Aicardi-Goutieres syndrome 8, MIM# 619486",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:14:46.349913+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 8, MIM# 619486; Mode of inheritance: None",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:14:32.260563+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LSM11 were changed from type I interferonopathy Aicardi–Goutières syndrome to Aicardi-Goutieres syndrome 8, MIM# 619486",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:14:06.208947+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 8, MIM# 619486; Mode of inheritance: None",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:13:46.153390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LSM11 were changed from type I interferonopathy Aicardi–Goutières syndrome to Aicardi-Goutieres syndrome 8, MIM# 619486",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:13:24.698199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 8, MIM# 619486; Mode of inheritance: None",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:13:03.602523+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LSM11 were changed from type I interferonopathy Aicardi–Goutières syndrome to Aicardi-Goutieres syndrome 8, MIM# 619486",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-08-23T13:12:29.511727+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 8, MIM# 619486; Mode of inheritance: None",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:17:27.806865+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR11 as ready",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:17:27.796372+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr11 has been classified as Green List (High Evidence).",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:17:10.844029+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR11 as Green List (high evidence)",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:17:10.834742+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr11 has been classified as Green List (High Evidence).",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:16:39.535443+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR11 was added\ngene: WDR11 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: WDR11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR11 were set to 34413497\nPhenotypes for gene: WDR11 were set to Intellectual disability; Microcephaly; Short stature\nReview for gene: WDR11 was set to GREEN\nAdded comment: Haag et al (2021 - PMID: 34413497) report on 6 individuals from 3 unrelated families, harboring biallelic LoF WDR11 variants.\r\n\r\nCommon features included microcephaly (6/6 - range: -2.43 SD to -4.93SD) and intellectual disability (6/6, in 5 cases mild, in 1 severe) with some individuals presenting also with mild short stature.\r\n\r\nHomozygosity or compound heterozygosity for LoF variants in affected individuals was identified following exome sequencing (fam1: NM_018117.12:c.1255C>T/p.Q419* hmz, fam2:c.3033_3036del/D1011Efs*21 in trans with c.1439del/p.N480Tfs*32, fam3:c.2931+1G>A hmz).\r\n\r\nSegregation studies supported carrier state of parents and unaffected sibs (or homozygosity for wt allele in the latter).\r\n\r\nVariable previous investigations incl. standard karyotype and CMA were normal in several subjects (notably index cases from each family).\r\n-----\r\nAs the authors comment WDR11 encodes for the WD repeat domain 11 protein and has broad expression in the developing mouse CNS. Mutations in other genes encoding for WD repeat proteins have been associated with neurological, endocrine or other disorders incl. ciliopathies.\r\n\r\nHeterozygous missense WDR11 variants are associated with hypogonadotropic hypogonadism (HH) 14 with or without anosmia (MIM #614858). [Gene2Phenotype : monoallelic, all missense/in-frame].\r\n\r\nThe authors performed extensive hormonal studies and argue that the phenotype associated with biallelic variants differs significantly from the dominantly inherited variants (HH) suggesting that biallelic variants result in a clinically distinct entity. In addition, carrier parents of the individuals reported by Haag et al had no obvious signs of congenital HH. However, there was no endocrinological examination performed.\r\n-----\r\nVariant effect:\r\nImmunofluorescence studies demonstrated strong juxtanuclear WDR11 staining in control fibroblasts , but only cell-ubiquitous background labeling in patient fibroblasts (for Q419*). There was also evidence for colocalization of wt WDR11 to the trans-Golgi network (TGN) with loss of this pattern in patient fibroblasts (Q419*).\r\n\r\nWestern blot in whole cell lysates of cultured patient fibroblasts (same variant) proved loss of WDR11 irrespectively of the antibody used (against N- or C-terminal epitopes of WDR11). There was no indication of a truncated protein.\r\n-----\r\nAnimal models:\r\nThe authors discuss previous evidence from mice/zebrafish models suggesting abnormal Hedgehog signaling in the primary cilium and impaired ciliogenesis due to loss of WDR11.\r\n\r\nWdr11-null mice display features of holoprosencephaly incl. microcephaly, hypotelorism, micro/anophthalmia, abnormal pituitary gland, growth retardation, heart defects, hypoplasia of reproductive organs and infertility. There was evidence of reduced length of the ciliary axoneme and reduced frequency of ciliated cells.\r\n\r\nKnockdown of wdr11 in zebrafish led to microcephaly, aberrant head cartilage formation, microphthalmia, curved body axis, motility defects.\r\n\r\nOverall the authors consider that the phenotype of microcephaly, variable growth delay and/or some visual/skeletal anomalies are recapitulated to some degree in animal models, although a more severe phenotype is observed in mice.\r\n\r\nIn the cohort presented by Haag et al there was no evidence of congenital heart defects, brain malformations, abnormal sexual hormone profiles or pituitary (MRI) abnormalities based on the investigations performed.\r\n-----\r\nThe authors discuss briefly on the previously proposed role for WDR11 in endosome to trans Golgi network vesicular trafficking which might also be supported by their colocalization experiments in patient fibroblasts. \nSources: Literature",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:14:52.189481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR11 as ready",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:14:52.178211+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr11 has been classified as Green List (High Evidence).",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:14:41.764716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR11 were changed from to Intellectual disability; Hypogonadotropic hypogonadism 14 with or without anosmia MIM #614858",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:14:12.669640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR11 were set to ",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:13:51.888095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:13:31.486544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: None; Publications: 34413497; Phenotypes: Intellectual disability, Hypogonadotropic hypogonadism 14 with or without anosmia MIM #614858; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:05:40.932696+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR11 were changed from to Intellectual disability; Microcephaly; Short stature",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:05:02.925540+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR11 were set to ",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:04:28.009057+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:03:58.474583+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR11 as Green List (high evidence)",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:03:58.462824+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr11 has been classified as Green List (High Evidence).",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-23T12:03:15.896156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8914",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:SCA12 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-23T11:05:35.607381+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA12 as ready",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-23T11:05:35.598728+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca12 has been classified as Green List (High Evidence).",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-23T11:03:07.817167+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA12 as Green List (high evidence)",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-23T11:03:07.803475+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca12 has been classified as Green List (High Evidence).",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-23T11:02:58.557435+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA12 was added\nSTR: SCA12 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA12 were set to 27864267; 33811808\nPhenotypes for STR: SCA12 were set to Spinocerebellar ataxia 12 MIM#604326\nReview for STR: SCA12 was set to GREEN\nSTR: SCA12 was marked as clinically relevant\nAdded comment: NM_181675.3:c.27CAG[X]\r\nUncertain if CAG repeat encodes polyglutamine or instead effects expression of specific splice variants of the encoded phosphatase\r\nNormal: ≤32 repeats\r\nUncertain: ~40-50 repeats have been reported, 43 repeats is the lowest reported in an established affected individual in a family with SCA12 \r\nEstablished pathogenic (used as diagnostic cut-off): ≥51 repeats \nSources: Expert list",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-08-23T02:42:25.791157+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4081",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "reviewed gene: WDR11: Rating: AMBER; Mode of pathogenicity: None; Publications: 34413497; Phenotypes: Intellectual disability, Microcephaly, Short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:48:33.568166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GH1 as ready",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:48:33.554782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gh1 has been classified as Green List (High Evidence).",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:48:24.506167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GH1 were changed from to Growth hormone deficiency, isolated, type IA, MIM# 262400; Growth hormone deficiency, isolated, type II, MIM# 173100; Kowarski syndrome, MIM# 262650",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:48:05.101265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GH1 were set to ",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:47:33.878753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:47:17.510981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2840669, 1603635, 12655557, 15671105, 8552145, 9276733, 15713716; Phenotypes: Growth hormone deficiency, isolated, type IA, MIM# 262400, Growth hormone deficiency, isolated, type II, MIM# 173100, Kowarski syndrome, MIM# 262650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:46:28.573628+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GH1 as ready",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:46:28.563613+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gh1 has been classified as Green List (High Evidence).",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:46:25.848055+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GH1 were changed from Growth hormone deficiency to Growth hormone deficiency, isolated, type IA, MIM# 262400; Growth hormone deficiency, isolated, type II, MIM# 173100; Kowarski syndrome, MIM# 262650",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:46:18.370934+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GH1 were set to ",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:46:09.794954+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GH1 as Green List (high evidence)",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:46:09.783904+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gh1 has been classified as Green List (High Evidence).",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:45:58.338015+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2840669, 1603635, 12655557, 15671105, 8552145, 9276733, 15713716; Phenotypes: Growth hormone deficiency, isolated, type IA, MIM# 262400, Growth hormone deficiency, isolated, type II, MIM# 173100, Kowarski syndrome, MIM# 262650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2021-08-22T16:39:37.753917+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FGFR1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-22T16:38:37.927531+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FGF8 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-22T14:36:56.251646+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHX1 as ready",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:36:56.240438+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:36:52.701009+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPHX1 as Amber List (moderate evidence)",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:36:52.690319+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:36:45.279820+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPHX1 was added\ngene: EPHX1 was added to Monogenic Diabetes. Sources: Literature\nMode of inheritance for gene: EPHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EPHX1 were set to 34342583\nPhenotypes for gene: EPHX1 were set to Lipoatrophic diabetes\nReview for gene: EPHX1 was set to AMBER\nAdded comment: Two individuals reported with de novo variants in this gene and lipoatrophic diabetes characterized by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. CRISPR-Cas9-mediated EPHX1 knockout (KO) abolished adipocyte differentiation and decreased insulin response. This KO also promoted oxidative stress and cellular senescence, an observation confirmed in patient-derived fibroblasts. \nSources: Literature",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:35:40.311827+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHX1 as ready",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:35:40.303097+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:35:36.194488+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPHX1 as Amber List (moderate evidence)",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:35:36.184333+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:35:26.659459+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:EPHX1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-22T14:35:02.777188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHX1 as ready",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:35:02.766891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:34:46.834873+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPHX1 was added\ngene: EPHX1 was added to Lipodystrophy_Lipoatrophy. Sources: Literature\nMode of inheritance for gene: EPHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EPHX1 were set to 34342583\nPhenotypes for gene: EPHX1 were set to Lipoatrophic diabetes\nReview for gene: EPHX1 was set to AMBER\nAdded comment: Two individuals reported with de novo variants in this gene and lipoatrophic diabetes characterized by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. CRISPR-Cas9-mediated EPHX1 knockout (KO) abolished adipocyte differentiation and decreased insulin response. This KO also promoted oxidative stress and cellular senescence, an observation confirmed in patient-derived fibroblasts. \nSources: Literature",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:34:27.432954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPHX1 were changed from to Lipoatrophic diabetes",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:34:11.350112+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPHX1 were set to ",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:33:56.114537+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPHX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:33:21.071197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPHX1 as Amber List (moderate evidence)",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:33:21.061634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:33:05.243055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPHX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34342583; Phenotypes: Lipoatrophic diabetes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:28:00.331554+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EP300 as ready",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:28:00.322656+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Green List (High Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:27:57.052310+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EP300 were changed from Rubenstein Taybi to Rubinstein-Taybi syndrome 2, MIM# 613684; Menke-Hennekam syndrome , MIM#2 618333",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:27:41.963563+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EP300 were set to ",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:27:28.496851+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EP300 as Green List (high evidence)",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:27:28.486835+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Green List (High Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:27:20.468651+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: None; Publications: 29506490, 29460469; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684, Menke-Hennekam syndrome , MIM#2 618333; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-08-22T14:23:27.449709+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:COL1A1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-21T18:45:50.803312+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:DOK7 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-21T12:49:36.846275+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:49:36.835959+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:49:34.530888+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR7 were changed from Smith Lemli Opitz to Smith-Lemli-Opitz syndrome, MIM#270400",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:49:22.531016+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHCR7 as Green List (high evidence)",
"entity_name": "DHCR7",
"entity_type": "gene"
}
]
}