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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=555",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=553",
"results": [
{
"created": "2023-09-01T08:15:55.779260+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system",
"entity_name": "UBAP2L",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:15:15.134974+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBAP2L: Changed phenotypes: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494",
"entity_name": "UBAP2L",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:14:16.890322+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3B1 as ready",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:14:16.881146+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3b1 has been classified as Green List (High Evidence).",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:14:12.695755+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:13:40.625600+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP3B1 were set to ",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:13:05.442462+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:12:29.334348+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:10:07.362277+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMT as ready",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:10:07.334129+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amt has been classified as Green List (High Evidence).",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:10:04.557063+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMT were changed from to Glycine encephalopathy MIM#605899",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:09:35.070751+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMT were set to ",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:09:07.112984+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:08:35.057708+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33791923; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:05:02.037247+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMT as ready",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:05:02.026635+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amt has been classified as Green List (High Evidence).",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:04:55.298683+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMT were changed from to Glycine encephalopathy MIM#605899",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:04:17.374842+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:03:42.642747+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-08-31T21:05:50.691012+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH18A1 as ready",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2023-08-31T21:05:50.672993+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh18a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2023-08-31T21:05:45.978137+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH18A1 were changed from to Spastic paraplegia 9B, autosomal recessive, MIM# 616586",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2023-08-31T21:05:12.639515+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH18A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2023-08-31T21:04:37.855345+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 9B, autosomal recessive, MIM# 616586; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2023-08-31T21:01:35.285679+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIFM1 as ready",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2023-08-31T21:01:35.261680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aifm1 has been classified as Green List (High Evidence).",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2023-08-31T21:01:25.923706+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIFM1 were changed from to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2023-08-31T21:00:50.808337+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2023-08-31T21:00:17.589580+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:57:01.043232+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADSL as ready",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:57:01.025627+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adsl has been classified as Green List (High Evidence).",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:56:56.407901+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency, MIM# 103050",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:56:23.431711+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:55:49.172551+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenylosuccinase deficiency, MIM# 103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:54:50.620396+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRG1 as ready",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:54:50.606248+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:54:45.247072+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRG1 were changed from to Polymicrogyria, bilateral frontoparietal, MIM# 606854",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:54:14.684531+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADGRG1 were set to ",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:53:37.837174+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADGRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:53:05.375453+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: ADGRG1.",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:52:54.925044+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336; Phenotypes: Polymicrogyria, bilateral frontoparietal 606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:49:02.798873+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEUROG1 as ready",
"entity_name": "NEUROG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:49:02.786729+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neurog1 has been classified as Green List (High Evidence).",
"entity_name": "NEUROG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:48:55.564369+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEUROG1 as Green List (high evidence)",
"entity_name": "NEUROG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:48:55.552476+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neurog1 has been classified as Green List (High Evidence).",
"entity_name": "NEUROG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:48:22.077056+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEUROG1 was added\ngene: NEUROG1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NEUROG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078\nPhenotypes for gene: NEUROG1 were set to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469\nReview for gene: NEUROG1 was set to GREEN\nAdded comment: There are four unrelated cases reported with global developmental delay/ intellectual disability. \r\n\r\nPMID:23419067 - A homozygous micro deletion of NEUROG1 was identified in a six year-old boy presenting with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild global developmental delay. His IQ was normal.\r\n\r\nPMID:26077850 - A homozygous NEUROG1 variant (p.Arg116Leu) was identified in a 12 year-old boy presented with syndromic corneal opacity, mild intellectual disability and absent corneal reflex.\r\n\r\nPMID:33439489 - A homozygous loss-of-function variant (p.Glu68Ter) was identified in a 12 year-old boy presenting with hypotonia, global developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. This patient had a global IQ of 62 at the age of ten.\r\n\r\nPMID:36647078 - A female proband was identified with a novel homozygous truncating frameshift variant (p.Thr78ProfsTer122 and was reported with profound global developmental delay, autism spectrum disorder, hearing loss, corneal opacity and no eye blinking. Her sister also had a similar, but less severe phenotype and also harboured the same variant at homozygous state. \nSources: Literature",
"entity_name": "NEUROG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:47:16.476684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEUROG1 as ready",
"entity_name": "NEUROG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:47:16.469036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neurog1 has been classified as Green List (High Evidence).",
"entity_name": "NEUROG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:46:05.589326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEUROG1 as Green List (high evidence)",
"entity_name": "NEUROG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T20:46:05.581192+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neurog1 has been classified as Green List (High Evidence).",
"entity_name": "NEUROG1",
"entity_type": "gene"
},
{
"created": "2023-08-31T12:33:53.828102+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRSF1 were changed from Neurodevelopmental disorder, SRSF1-related MONDO:0700092 to Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489",
"entity_name": "SRSF1",
"entity_type": "gene"
},
{
"created": "2023-08-31T12:33:16.919899+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRSF1",
"entity_type": "gene"
},
{
"created": "2023-08-31T12:32:50.942067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRSF1 were changed from Neurodevelopmental disorder, SRSF1-related MONDO:0700092 to Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489",
"entity_name": "SRSF1",
"entity_type": "gene"
},
{
"created": "2023-08-31T12:32:25.720486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRSF1",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:35:14.692419+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPM4 were changed from leeding disorder, platelet-type, 25, MIM# 620486 to Bleeding disorder, platelet-type, 25, MIM# 620486",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:35:02.274452+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPM4 as ready",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:35:02.264904+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm4 has been classified as Green List (High Evidence).",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:35:00.268101+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPM4 were changed from Macrothrombocytopenia to leeding disorder, platelet-type, 25, MIM# 620486",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:34:46.199790+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPM4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Bleeding disorder, platelet-type, 25, MIM# 620486; Mode of inheritance: None",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:34:22.634673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPM4 were changed from Macrothrombocytopaenia to Bleeding disorder, platelet-type, 25, MIM# 620486",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:33:58.468629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TPM4: Changed phenotypes: Bleeding disorder, platelet-type, 25, MIM# 620486",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:32:24.000150+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPM4 were changed from Macrothrombocytopenia to Bleeding disorder, platelet-type, 25, MIM# 620486",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:31:47.198436+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TPM4: Changed phenotypes: Bleeding disorder, platelet-type, 25, MIM# 620486",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:30:55.712695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPRJ were changed from Thrombocytopaenia to Thrombocytopenia 10, MIM# 620484",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:30:31.489625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTPRJ: Changed phenotypes: Thrombocytopenia 10, MIM# 620484",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:30:15.771368+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPRJ were changed from Thrombocytopaenia to Thrombocytopenia 10, MIM# 620484",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:29:36.943119+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTPRJ: Changed phenotypes: Thrombocytopenia 10, MIM# 620484",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:27:22.547087+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THPO as ready",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:27:22.527121+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thpo has been classified as Green List (High Evidence).",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:27:15.032514+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THPO as Green List (high evidence)",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:27:15.019755+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thpo has been classified as Green List (High Evidence).",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:26:43.511940+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THPO was added\ngene: THPO was added to Bone Marrow Failure. Sources: Expert Review\nMode of inheritance for gene: THPO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: THPO were set to 24085763; 28559357; 29191945; 36226497\nPhenotypes for gene: THPO were set to Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481\nReview for gene: THPO was set to GREEN\nAdded comment: 5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure. \nSources: Expert Review",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:24:22.925025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THPO: Added comment: 5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure.; Changed publications: 9425899, 10583217, 32150607, 28466964, 24085763, 28559357, 29191945, 36226497; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478, Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:17:15.429780+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM#\t187950; Thrombocytopenia 9, MIM# 620478 to Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478; Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:16:38.755801+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THPO were set to 9425899; 10583217; 32150607; 28466964",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:16:03.062154+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THPO: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:15:50.945168+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THPO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-30T12:15:19.630928+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THPO: Added comment: 5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure.; Changed publications: 9425899, 10583217, 32150607, 28466964, 24085763, 28559357, 29191945, 36226497; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478, Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-30T10:19:38.897823+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5339",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CCDC115 as Green List (high evidence)",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2023-08-30T10:19:38.872341+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5339",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ccdc115 has been classified as Green List (High Evidence).",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2023-08-30T10:19:17.520943+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5339",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CCDC115 as Green List (high evidence)",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2023-08-30T10:19:17.489664+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5339",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ccdc115 has been classified as Green List (High Evidence).",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2023-08-30T10:18:55.624686+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5338",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: CCDC115 as ready",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2023-08-30T10:18:55.608379+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5338",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ccdc115 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2023-08-30T10:01:59.104898+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5338",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CCDC115 was added\ngene: CCDC115 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo MIM# 616828\nReview for gene: CCDC115 was set to GREEN\nAdded comment: Added following CAM discussion \nSources: Literature",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2023-08-30T06:26:06.298415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1125",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: NEUROG1 was added\ngene: NEUROG1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NEUROG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078\nPhenotypes for gene: NEUROG1 were set to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469\nReview for gene: NEUROG1 was set to GREEN\nAdded comment: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be added with green rating in the intellectual disability panel.\r\n\r\nPMID:23419067 - A homozygous micro deletion of NEUROG1 was identified in a six year-old boy presenting with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild global developmental delay. His IQ was normal.\r\n\r\nPMID:26077850 - A homozygous NEUROG1 variant (p.Arg116Leu) was identified in a 12 year-old boy presented with syndromic corneal opacity, mild intellectual disability and absent corneal reflex.\r\n\r\nPMID:33439489 - A homozygous loss-of-function variant (p.Glu68Ter) was identified in a 12 year-old boy presenting with hypotonia, global developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. This patient had a global IQ of 62 at the age of ten.\r\n\r\nPMID:36647078 - A female proband was identified with a novel homozygous truncating frameshift variant (p.Thr78ProfsTer122 and was reported with profound global developmental delay, autism spectrum disorder, hearing loss, corneal opacity and no eye blinking. Her sister also had a similar, but less severe phenotype and also harboured the same variant at homozygous state.\r\n\r\nThis gene has been associated with relevant phenotypes in OMIM (MIM #620469), but not in Gene2Phenotype. \nSources: Literature",
"entity_name": "NEUROG1",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:32:26.447032+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PANK2 were changed from pantothenate kinase-associated neurodegeneration MONDO:0009319 to pantothenate kinase-associated neurodegeneration MONDO:0009319",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:32:18.316873+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PANK2 as ready",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:32:18.281874+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Green List (High Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:31:57.624909+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PANK2 were changed from pantothenate kinase-associated neurodegeneration MONDO:0009319 to pantothenate kinase-associated neurodegeneration MONDO:0009319",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:31:23.735633+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PANK2 were changed from to pantothenate kinase-associated neurodegeneration MONDO:0009319",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:30:50.540268+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PANK2 were set to ",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:30:13.006005+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:29:22.942059+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G6 as ready",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:29:22.929146+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:29:18.939072+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G6 were changed from to autosomal recessive Parkinson disease 14 MONDO:0013060",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:28:24.849133+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLA2G6 were set to ",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:27:44.754959+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLA2G6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:26:31.001195+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2023-08-29T17:26:30.988964+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
}
]
}