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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1194",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1192",
"results": [
{
"created": "2021-10-05T11:32:34.519160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap221 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2021-10-05T11:32:22.422002+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP221 was added\ngene: CFAP221 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP221 were set to 31636325\nPhenotypes for gene: CFAP221 were set to Primary ciliary dyskinesia\nReview for gene: CFAP221 was set to RED\nAdded comment: WES in 1 family with 3 siblings with clinical symptoms of PCD identified compound heterozygous loss-of-function variants in CFAP221, which segregated with disease. No functional studies. Nasal epithelial cells from 1 of the subjects demonstrated slightly reduced beat frequency, however, waveform analysis revealed that the CFAP221 defective cilia beat in an aberrant circular pattern. A candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal. \nSources: Literature",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2021-10-05T10:58:49.205287+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP221 as ready",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2021-10-05T10:58:49.194134+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap221 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2021-10-05T09:41:01.476171+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CFAP221 was added\ngene: CFAP221 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP221 were set to PMID: 31636325\nPhenotypes for gene: CFAP221 were set to Primary ciliary dyskinesia\nReview for gene: CFAP221 was set to RED\nAdded comment: WES in 1 family with 3 siblings with clinical symptoms of PCD identified compound heterozygous loss-of-function variants in CFAP221, which segregated with disease. No functional studies. Nasal epithelial cells from 1 of the subjects demonstrated slightly reduced beat frequency, however, waveform analysis revealed that the CFAP221 defective cilia beat in an aberrant circular pattern. A candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal. \nSources: Literature",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:15:15.560815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DAB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:14:58.786173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAB1 were changed from to Spinocerebellar ataxia 37 MIM#615945; Ataxia and intellectual disability",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:14:24.698124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DAB1 were set to ",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:14:11.176254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DAB1 was changed from to None",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:13:53.276635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DAB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:13:35.859037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAB1 as Red List (low evidence)",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:13:35.849926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dab1 has been classified as Red List (Low Evidence).",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:13:10.632301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAB1: Rating: RED; Mode of pathogenicity: None; Publications: 33928188; Phenotypes: Ataxia, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:11:29.985124+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAB1 as ready",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:11:29.974059+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dab1 has been classified as Red List (Low Evidence).",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:11:23.049434+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAB1 as Red List (low evidence)",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:11:23.034755+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dab1 has been classified as Red List (Low Evidence).",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:11:06.582100+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:08:35.714076+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNIP1 were set to 22279524",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:07:59.814526+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three Amish individuals with same homozygous variant, founder effect.; to: Four Amish individuals with same homozygous variant, founder effect.",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:07:52.257478+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNIP1: Changed publications: 22279524, 34570759",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:07:37.183801+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNIP1 were set to 22279524",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:07:14.220034+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SNIP1.",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:07:07.260047+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three Amish individuals with same homozygous variant, founder effect.; to: Four Amish individuals with same homozygous variant, founder effect.",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:07:00.352421+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNIP1: Changed publications: 22279524, 34570759",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:06:30.173701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SNIP1.",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:05:43.228338+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families, some functional data. However, clinical presentation is with infertility rather than POI/POF.; to: Two unrelated families with balletic variants, some functional data. Four with mono-allelic variants. However, clinical presentation is with infertility rather than POI/POF.",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:05:15.230981+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PANX1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:03:55.362527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERBB4 as ready",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:03:55.353265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb4 has been classified as Green List (High Evidence).",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:03:47.790407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB4 were changed from to Amyotrophic lateral sclerosis 19, MIM# MIM#615515; Intellectual disability",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:03:30.743223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERBB4 were set to ",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:03:09.105692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERBB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:02:51.369670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERBB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24119685, 28889094, 33603162; Phenotypes: Amyotrophic lateral sclerosis 19, MIM# MIM#615515, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:01:11.372603+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LONP1 as ready",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T18:01:11.356249+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lonp1 has been classified as Green List (High Evidence).",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:55:28.940546+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB4 were changed from to Intellectual disability",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:54:55.452379+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ERBB4.",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:53:06.810818+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP11A were changed from PMID: 34403372 to Neurological disorder",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:50:14.757818+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WLS as ready",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:50:14.747559+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:50:07.342662+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WLS as Green List (high evidence)",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:50:07.332753+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:49:38.244488+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LONP1 were changed from CODAS syndrome, MIM#600373; Mitochondrial cytopathy to CODAS syndrome, MIM#600373; Mitochondrial cytopathy",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:49:34.109238+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WLS as ready",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:49:34.083057+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:49:23.236887+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LONP1 were changed from to CODAS syndrome, MIM#600373; Mitochondrial cytopathy",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:49:11.651315+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WLS as Green List (high evidence)",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:49:11.642012+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:48:22.653911+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LONP1 were set to ",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:48:16.247752+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WLS as ready",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:48:16.237284+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:46:43.764204+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LONP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:45:27.049722+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636596; Phenotypes: CODAS syndrome, MIM#600373, Mitochondrial cytopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:39:18.943169+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WLS as Green List (high evidence)",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:39:18.930446+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:38:44.766818+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WLS as ready",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:38:44.757352+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:38:41.265984+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WLS as Green List (high evidence)",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:38:41.256449+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:37:39.604256+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WLS as Green List (high evidence)",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:37:39.593913+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:36:35.136445+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WIPI2 were changed from Intellectual developmental disorder with short stature and variable skeletal anomalies 618453 to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453; global developmental delay; intellectual disability; refractory infantile/childhood-onset epilepsy; progressive tetraplegia with joint contractures; dyskinesia; speech and visual impairment; autistic features; ataxic gait",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:36:14.634870+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WIPI2 were set to 30968111",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:35:31.862072+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WIPI2 as Green List (high evidence)",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:35:31.851733+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wipi2 has been classified as Green List (High Evidence).",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:32:11.290957+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZDHHC15 were changed from to Mental retardation, X-linked 91, 300577",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:31:30.763307+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZDHHC15 were set to ",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:30:58.180005+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZDHHC15 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-04T17:30:29.370266+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: 34345675, 32989326; Phenotypes: Mental retardation, X-linked 91, 300577; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:54:46.965576+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.292",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DAB1 was added\ngene: DAB1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: DAB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAB1 were set to PMID: 33928188\nPhenotypes for gene: DAB1 were set to epilepsy; developmental delay; cerebellar ataxia; structural brain abnormalities; oral motor difficulty\nPenetrance for gene: DAB1 were set to unknown\nReview for gene: DAB1 was set to AMBER\nAdded comment: WES trio analysis identified compound heterozygous DAB1 canonical splice variants in a child with epilepsy (onset 6 years), developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities. RT-PCR confirms that the first variant (c.307-2A>T) causes a in-frame deletion of 3 amino acids. The second variant (c.67+1G>T) is reported to causes an in-frame deletion of exon 4 (first coding exon) and loss of the ATG initiation site. \nSources: Literature",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:19:19.294302+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.18",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ABHD16A as ready",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:19:19.284513+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.18",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:19:13.665055+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.18",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ABHD16A as Green List (high evidence)",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:19:13.649215+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.18",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:18:56.562108+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.235",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ABHD16A as ready",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:18:56.553383+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.235",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:18:44.956651+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.235",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD16A were changed from Spastic paraplegia to Spastic paraplegia; intellectual disability; callosome",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:18:23.832137+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.234",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ABHD16A as Green List (high evidence)",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:18:23.822433+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.234",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:02:51.604565+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4166",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ERBB4 as ready",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:02:51.595419+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4166",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: erbb4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:02:28.858581+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4166",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ERBB4 as Amber List (moderate evidence)",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:02:28.853839+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4166",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: CNVs only, not clear on the differentiation between ID and ALS.",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T16:02:28.818486+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4166",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: erbb4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:59:12.799065+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ABHD16A as ready",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:59:12.777958+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:58:59.330112+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.326",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ABHD16A as ready",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:58:59.319712+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.326",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:55:22.352540+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.233",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: ABHD16A: Changed phenotypes: Spastic paraplegia, intellectual disability, callosome",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:54:41.066568+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.233",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: 11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls.\r\nIn 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian.\r\n4 missense variants, 1 frameshift, 1 nonsense. \r\nFrom PMID: 34587489 \nSources: Literature; to: 11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls.\r\nIn 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian.\r\n4 missense variants, 1 frameshift, 1 nonsense. \r\nFrom PMID: 34587489 \r\nSources: Literature",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:54:36.850869+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD16A were changed from Spastic paraplegia to Spastic paraplegia; Intellectual Disability; Callosome",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:54:17.490869+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.326",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD16A were changed from Spastic paraplegia to Spastic paraplegia; Intellectual Disability; Callosome",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:54:13.686018+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.17",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ABHD16A was added\ngene: ABHD16A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD16A were set to PMID: 34587489\nPhenotypes for gene: ABHD16A were set to Spastic paraplegia; intellectual disability; callosome\nReview for gene: ABHD16A was set to GREEN\nAdded comment: 11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls.\r\nIn 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian.\r\n4 missense variants, 1 frameshift, 1 nonsense. \r\nFrom PMID: 34587489 \nSources: Literature",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:54:08.425935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PANX1 were set to 30918116; 32838805",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:54:03.138397+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4164",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30968111, 34557665; Phenotypes: global developmental delay, intellectual disability, refractory infantile/childhood-onset epilepsy, progressive tetraplegia with joint contractures, dyskinesia, speech and visual impairment, autistic features, ataxic gait; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:53:52.364484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4164",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ABHD16A as Green List (high evidence)",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:53:52.354019+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4164",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:53:46.495755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PANX1 was changed from None to Other",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:53:40.865803+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.325",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ABHD16A as Green List (high evidence)",
"entity_name": "ABHD16A",
"entity_type": "gene"
}
]
}