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{
"count": 221284,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1931",
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"results": [
{
"created": "2020-02-12T11:58:54.672446+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2118",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZIC1 as Green List (high evidence)",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-02-12T11:58:54.658466+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2118",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zic1 has been classified as Green List (High Evidence).",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-02-12T11:58:22.129952+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2117",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ZIC1 was added\ngene: ZIC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZIC1 were set to PMID: 26340333, 30391508\nPhenotypes for gene: ZIC1 were set to Structural brain anomalies with impaired intellectual development and craniosynostosis; OMIM #618736 \nReview for gene: ZIC1 was set to GREEN\nAdded comment: 5 families with heterozygous mutations located in the final (third) exon of ZIC1 who have a distinct phenotype in which severe craniosynostosis, specifically involving the coronal sutures, and variable learning disability are the most characteristic features. The location of the nonsense mutations predicts escape of mutant ZIC1 transcripts from nonsense-mediated decay, which was confirmed in a cell line from an affected individual. Both nonsense and missense mutations are associated with altered and/or enhanced expression of a target gene, engrailed-2, in a Xenopus embryo assay. Analysis of mouse embryos revealed a localized domain of Zic1 expression at embryonic days 11.5-12.5 in a region overlapping the supraorbital regulatory center, which patterns the coronal suture. \r\n\r\n2 sibs with BAIDCS, Vandervore et al. (2018) identified heterozygosity for a frameshift mutation in the ZIC1 gene. Neither parent had evidence of the mutation by whole-exome sequencing, suggesting that gonadal mosaicism for the mutation was present in one of the parents. Expression of the mutated allele was detected in patient fibroblasts by RT-PCR, evidence that the mutant mRNA did not undergo nonsense-mediated decay and probably generates an abnormal protein.\r\n\r\n\r\nAlso heterozygous deletions of ZIC1 on chromosome 3q25.1 are associated with Dandy-Walker malformation of the cerebellum. Loss of the orthologous Zic1 gene in the mouse causes cerebellar hypoplasia and vertebral defects. \nSources: Expert list",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-02-12T11:54:17.641530+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2116",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZNF148 as Green List (high evidence)",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2020-02-12T11:54:17.632975+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2116",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: znf148 has been classified as Green List (High Evidence).",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2020-02-12T11:48:53.374214+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2115",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ZNF148 was added\ngene: ZNF148 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF148 were set to PMID: 27964749\nPhenotypes for gene: ZNF148 were set to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; OMIM #617260\nReview for gene: ZNF148 was set to GREEN\nAdded comment: 4 patients with de novo heterozygous nonsense or frameshift mutations in the ZNF148 gene. Patients characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. No functional evidence. \nSources: Expert list",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2020-02-12T10:24:36.186311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1337",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:07:53.491066+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EML1 as ready",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:07:53.482869+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eml1 has been classified as Green List (High Evidence).",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:07:44.328951+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:07:14.008846+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EML1 were set to ",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:06:40.210991+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:06:04.796226+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:05:22.739582+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EML1 as ready",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:05:22.730942+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eml1 has been classified as Green List (High Evidence).",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:05:17.129605+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:04:43.394097+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EML1 were set to ",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:04:10.243320+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:03:39.590910+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:02:43.681433+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EML1 as ready",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:02:43.673082+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eml1 has been classified as Green List (High Evidence).",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:02:38.228929+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:02:10.967331+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EML1 were set to ",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:01:48.024823+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:01:05.552578+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:00:23.113666+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EML1 as ready",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:00:23.105893+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eml1 has been classified as Green List (High Evidence).",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T08:00:17.806886+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T07:59:50.878620+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EML1 were set to ",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T07:59:21.881197+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T07:58:48.108258+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T07:57:28.634426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EML1 as ready",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T07:57:28.621406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eml1 has been classified as Green List (High Evidence).",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T07:57:16.808451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T07:56:56.441249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EML1 were set to ",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-12T07:56:37.117471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:48:00.197588+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPM1 as ready",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:48:00.183280+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm1 has been classified as Green List (High Evidence).",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:47:56.566906+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, 611878; Cardiomyopathy, hypertrophic, 3, 115196; Left ventricular noncompaction 9, 611878",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:47:24.442952+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPM1 were set to ",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:46:55.288957+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TPM1 was changed from to Other",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:46:26.805178+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:20:31.941476+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WAC as ready",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:20:31.932214+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wac has been classified as Green List (High Evidence).",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:20:27.575397+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WAC were changed from to Desanto-Shinawi syndrome 616708",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:19:54.557742+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WAC were set to ",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:19:26.096409+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WAC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:18:33.245450+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYBPC3 as ready",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:18:33.230726+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc3 has been classified as Green List (High Evidence).",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:18:28.864378+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, dilated, 1MM, 615396; Cardiomyopathy, hypertrophic, 4, 115197; Left ventricular noncompaction 10, 615396",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:18:00.344011+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYBPC3 were set to ",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-02-11T21:17:32.687727+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYBPC3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:25:45.765775+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.11",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:25:39.484000+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.11",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "edited their review of gene: TPM1: Added comment: Well known gene-disease association.\r\nMechanism not established, but likely gain of function; it's possible that HCM variants are GoF, whilst DCM variants are LoF (PMID: 31270709).; Changed phenotypes: Cardiomyopathy, dilated, 1Y, 611878, Cardiomyopathy, hypertrophic, 3, 115196, Left ventricular noncompaction 9, 611878",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:24:25.231361+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.11",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20378854; Phenotypes: Cardiomyopathy, dilated, 1MM, 615396, Cardiomyopathy, hypertrophic, 4, 115197, Left ventricular noncompaction 10, 615396; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:23:24.446477+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2108",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: WAC: Changed phenotypes: Desanto-Shinawi syndrome 616708",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:22:04.153612+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.11",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:21:35.856287+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.11",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "changed review comment from: Well known gene-disease association; to: Well known gene-disease association",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:15:31.323912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELMO2 as ready",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:15:31.318533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmo2 has been classified as Green List (High Evidence).",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:15:21.879004+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELMO2 as Green List (high evidence)",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:15:21.873770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmo2 has been classified as Green List (High Evidence).",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:14:40.921601+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2108",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26264232; Phenotypes: Desanto-Shinawi syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:14:26.079201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELMO2 was added\ngene: ELMO2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELMO2 were set to 27476657\nPhenotypes for gene: ELMO2 were set to Vascular malformation, primary intraosseous, MIM#606893\nReview for gene: ELMO2 was set to GREEN\nAdded comment: Five unrelated families reported. \nSources: Expert list",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:11:11.626058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HHIP as ready",
"entity_name": "HHIP",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:11:11.619295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhip has been classified as Red List (Low Evidence).",
"entity_name": "HHIP",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:10:55.795603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HHIP were set to ",
"entity_name": "HHIP",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:10:31.581393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HHIP as Red List (low evidence)",
"entity_name": "HHIP",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:10:31.576403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhip has been classified as Red List (Low Evidence).",
"entity_name": "HHIP",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:10:11.524297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HHIP: Changed rating: RED",
"entity_name": "HHIP",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:09:29.943703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HHIP: Rating: ; Mode of pathogenicity: None; Publications: 27082974, 31631996; Phenotypes: ; Mode of inheritance: None",
"entity_name": "HHIP",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:06:47.477045+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRA10AC1 as ready",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:06:47.472335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Red List (Low Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:06:38.315479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FRA10AC1 were set to ",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:06:17.116856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRA10AC1 as Red List (low evidence)",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:06:17.111445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Red List (Low Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:05:58.155543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRA10AC1: Rating: RED; Mode of pathogenicity: None; Publications: 15203205; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:03:04.038015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMP25 as ready",
"entity_name": "MMP25",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:03:04.033040+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp25 has been classified as Red List (Low Evidence).",
"entity_name": "MMP25",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:02:53.909460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMP25 as Red List (low evidence)",
"entity_name": "MMP25",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:02:53.902521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp25 has been classified as Red List (Low Evidence).",
"entity_name": "MMP25",
"entity_type": "gene"
},
{
"created": "2020-02-11T12:02:35.333196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMP25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MMP25",
"entity_type": "gene"
},
{
"created": "2020-02-11T11:44:35.096084+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.11",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31270709; Phenotypes: Cardiomyopathy, dilated, 1Y, Cardiomyopathy, hypertrophic, 3, Left ventricular noncompaction 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-02-11T11:41:05.853712+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.11",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20378854; Phenotypes: Cardiomyopathy, dilated, 1MM, Cardiomyopathy, hypertrophic, 4, Left ventricular noncompaction 10; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-02-11T11:00:41.484926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1327",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2020-02-11T10:10:55.441375+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLS: Added comment: In addition, single individual also reported with de novo, GoF variant with profound ID, cataract.; Changed mode of pathogenicity: Other; Changed publications: 30970188, 30239721; Changed phenotypes: Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2020-02-10T22:07:39.897947+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA9 as ready",
"entity_name": "NDUFA9",
"entity_type": "gene"
},
{
"created": "2020-02-10T22:07:39.892952+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa9 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA9",
"entity_type": "gene"
},
{
"created": "2020-02-10T22:07:30.491304+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA9 were changed from to Mitochondrial complex I deficiency, nuclear type 26",
"entity_name": "NDUFA9",
"entity_type": "gene"
},
{
"created": "2020-02-10T22:06:50.254524+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA9 were set to ",
"entity_name": "NDUFA9",
"entity_type": "gene"
},
{
"created": "2020-02-10T22:06:14.361359+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA9",
"entity_type": "gene"
},
{
"created": "2020-02-10T22:04:37.382361+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL1A1 as ready",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-02-10T22:04:37.377180+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col1a1 has been classified as Green List (High Evidence).",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-02-10T22:04:25.773091+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL1A1 were changed from to Caffey disease, MIM#114000; Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060; Osteogenesis imperfecta, type I, MIM#166200; Osteogenesis imperfecta, type II, MIM#166210; Osteogenesis imperfecta, type III, MIM#259420; Osteogenesis imperfecta, type IV, MIM#166220",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-02-10T22:03:44.145554+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL1A1 were set to ",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-02-10T22:03:13.036057+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: COL1A1 was changed from to Other",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-02-10T22:02:45.419786+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-02-10T17:18:10.008857+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1327",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-10T17:16:30.617853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MAP3K20 as Green List (high evidence)",
"entity_name": "MAP3K20",
"entity_type": "gene"
},
{
"created": "2020-02-10T17:16:30.612161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: map3k20 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K20",
"entity_type": "gene"
}
]
}