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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1578",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1576",
"results": [
{
"created": "2020-09-23T22:33:24.577130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4557",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: PMID: 32592472 (2020) - Another knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.; to: PMID: 32592472 (2020) - An additional knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-09-23T22:30:18.256073+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4557",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: C1orf194: Rating: ; Mode of pathogenicity: None; Publications: 32592472; Phenotypes: Charcot-Marie-Tooth; Mode of inheritance: None",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-09-23T21:43:30.965232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4557",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32469049; Phenotypes: Rett syndrome, 312750; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-09-23T21:00:31.106289+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3022",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32667670; Phenotypes: Mental retardation, X-linked, syndromic 14, 300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:44:21.998690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPR1 as ready",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:44:21.988614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpr1 has been classified as Green List (High Evidence).",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:43:46.414977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XPR1 were changed from to Basal ganglia calcification, idiopathic, 6, MIM# 616413",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:43:27.178739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XPR1 were set to ",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:43:11.991680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XPR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:42:53.455365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25938945; Phenotypes: Basal ganglia calcification, idiopathic, 6, MIM# 616413; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:42:10.071902+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPR1 as ready",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:42:10.059014+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpr1 has been classified as Green List (High Evidence).",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:42:06.779275+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XPR1 were changed from to Basal ganglia calcification, idiopathic, 6, MIM# 616413",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:41:44.902737+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XPR1 were set to ",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:41:23.971353+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XPR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:40:55.764085+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25938945; Phenotypes: Basal ganglia calcification, idiopathic, 6, MIM# 616413; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:39:59.643962+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPR1 as ready",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:39:59.635758+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpr1 has been classified as Green List (High Evidence).",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:39:57.147030+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XPR1 were changed from to Basal ganglia calcification, idiopathic, 6, MIM# 616413",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:39:31.285867+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XPR1 were set to ",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:39:05.121274+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XPR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:38:36.335743+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25938945; Phenotypes: Basal ganglia calcification, idiopathic, 6, MIM# 616413; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:23:41.590330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13C as ready",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:23:41.578271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13c has been classified as Green List (High Evidence).",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:23:15.567434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13C were changed from to Early-onset Parkinson disease-23, MIM# 616840",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:22:58.878121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS13C were set to ",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:22:37.159842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:22:20.682208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS13C: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942284 30452786 28862745; Phenotypes: Early-onset Parkinson disease-23, MIM# 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:13:06.302181+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TWNK were set to ",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:12:50.268399+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TWNK were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:11:48.362978+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAF1 as ready",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:11:48.353088+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:11:46.265032+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF1 were changed from to Dystonia-Parkinsonism, X-linked, MIM# 314250",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:11:19.834059+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAF1 were set to ",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:10:54.598042+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:10:38.235761+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAF1 as Amber List (moderate evidence)",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:10:38.226349+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:10:14.567673+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: TAF1.\nTag founder tag was added to gene: TAF1.",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:09:55.573778+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17273961; Phenotypes: Dystonia-Parkinsonism, X-linked, MIM# 314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:49:45.506296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317; primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome to Basal ganglia calcification, idiopathic, 7, MIM #618317; primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:49:23.283168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000; 31009047",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:49:04.733505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA1161 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:48:47.530647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA1161.",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:48:33.578283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA1161: Added comment: In a cohort study comprising 435 individuals with primary brain calcification, 38 individuals identified with mono-allelic variants in this gene, in addition to 14 with bi-allelic variants. Clinical and imaging penetrance of individuals with bi-allelic variants were 100%, whereas among individuals with heterozygous variants, penetrance of imaging phenotype was reduced to 73.7% (28 of 38) and clinical penetrance was much lower. Most (34 of 38) remained asymptomatic whereas 4 had symptoms of uncertain clinical significance (nonspecific depression, epilepsy and late-onset parkinsonism). Compared with individuals with biallelic MYORG variants, individuals with heterozygous variants had brain calcifications with much lower calcification scores (P < 2e-16). HGNC approved name is MYORG.; Changed publications: 30656188, 30649222, 30460687, 29910000, 31951047; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:47:27.502835+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317 to Basal ganglia calcification, idiopathic, 7, MIM#618317",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:46:57.382342+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA1161 were set to PubMed: 30656188, 30649222, 30460687, 29910000",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:46:31.946596+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA1161 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:46:00.713380+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA1161.",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:45:51.910511+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: In a cohort study comprising 435 individuals with primary brain calcification, 38 individuals identified with mono-allelic variants in this gene, in addition to 14 with bi-allelic variants. Clinical and imaging penetrance of individuals with bi-allelic variants were 100%, whereas among individuals with heterozygous variants, penetrance of imaging phenotype was reduced to 73.7% (28 of 38) and clinical penetrance was much lower. Most (34 of 38) remained asymptomatic whereas 4 had symptoms of uncertain clinical significance (nonspecific depression, epilepsy and late-onset parkinsonism). Compared with individuals with biallelic MYORG variants, individuals with heterozygous variants had brain calcifications with much lower calcification scores (P < 2e-16).; to: In a cohort study comprising 435 individuals with primary brain calcification, 38 individuals identified with mono-allelic variants in this gene, in addition to 14 with bi-allelic variants. Clinical and imaging penetrance of individuals with bi-allelic variants were 100%, whereas among individuals with heterozygous variants, penetrance of imaging phenotype was reduced to 73.7% (28 of 38) and clinical penetrance was much lower. Most (34 of 38) remained asymptomatic whereas 4 had symptoms of uncertain clinical significance (nonspecific depression, epilepsy and late-onset parkinsonism). Compared with individuals with biallelic MYORG variants, individuals with heterozygous variants had brain calcifications with much lower calcification scores (P < 2e-16).\r\n\r\nHGNC approved name is MYORG.",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:45:34.545791+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: None; Publications: 31951047; Phenotypes: Basal ganglia calcification, idiopathic, 7, MIM#618317; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIAA1161",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:38:18.240969+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDGFRB as ready",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:38:18.228759+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdgfrb has been classified as Green List (High Evidence).",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:38:14.758996+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFRB were changed from to Basal ganglia calcification, idiopathic, 4, MIM# 615007",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:37:44.059851+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDGFRB were set to ",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:37:17.243665+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:36:53.721885+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255827, 30979360; Phenotypes: Basal ganglia calcification, idiopathic, 4 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:32:01.581261+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDGFB as ready",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:32:01.555531+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdgfb has been classified as Green List (High Evidence).",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:31:58.931249+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5, MIM# 615483",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:31:25.505834+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDGFB were set to ",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:30:55.756465+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:30:16.792249+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM# 615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:24:01.700345+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECP2 as ready",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:24:01.687980+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Green List (High Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:23:53.452218+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECP2 were changed from to MECP2-related disorders; Rett syndrome, MIM# 312750; Mental retardation, X-linked, syndromic 13, MIM# 300055",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:23:29.388252+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MECP2 were set to ",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:23:00.170758+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:22:32.069495+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31970230, 27050783; Phenotypes: MECP2-related disorders, Rett syndrome, MIM# 312750, Mental retardation, X-linked, syndromic 13, MIM# 300055; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:15:42.634825+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRN were changed from to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:13:32.948825+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRN were set to ",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:09:07.033169+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-09-23T09:08:38.913620+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17923627, 20301545; Phenotypes: Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-09-23T08:07:14.160187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG14 as ready",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-09-23T08:07:14.149638+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-09-23T08:07:07.044561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG14 were changed from to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-09-23T08:06:35.630209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG14 were set to ",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-09-23T08:06:18.750143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-09-23T08:06:00.313521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 30221345, 23404334, 28733338; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Disorder of N-glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-09-23T08:04:44.451625+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability; Disorder of N-glycosylation to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-09-23T08:04:10.796642+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG14: Changed phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Disorder of N-glycosylation",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-09-23T08:03:14.589130+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability to Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-09-23T08:01:22.922968+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG14: Changed phenotypes: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:54:15.459945+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF12 as ready",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:54:15.447565+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf12 has been classified as Green List (High Evidence).",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:54:12.986490+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF12 were changed from to Craniosynostosis 3, MIM# 615314",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:53:50.308680+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCF12 were set to ",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:53:30.140832+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:53:01.321257+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354436; Phenotypes: Craniosynostosis 3, MIM# 615314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:51:53.326847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF12 as ready",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:51:53.318689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf12 has been classified as Green List (High Evidence).",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:51:31.564657+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF12 were changed from to Craniosynostosis 3, MIM# 615314; Kallman syndrome",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:51:16.265390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCF12 were set to ",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:50:55.003773+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCF12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:50:34.362996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354436, 32620954; Phenotypes: Craniosynostosis 3, MIM# 615314, Kallman syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:48:22.289300+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF12 as ready",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:48:22.278509+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf12 has been classified as Green List (High Evidence).",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:48:17.281760+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCF12 as Green List (high evidence)",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:48:17.271402+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf12 has been classified as Green List (High Evidence).",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T07:47:08.136305+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCF12 was added\ngene: TCF12 was added to Disorders of Sex Differentiation. Sources: Literature\nMode of inheritance for gene: TCF12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TCF12 were set to 32620954\nPhenotypes for gene: TCF12 were set to Kallmann syndrome\nReview for gene: TCF12 was set to GREEN\nAdded comment: Note monoallelic variants in this gene are a well-established cause of craniosynostosis.\r\n------------------------------------------------------------------------------------------------------------------------\r\n\r\n- PMID: 32620954 (2020) - 13 unrelated kindreds (11 de novo, 1 AD and 1 AR) comprising 14 affected individuals with an anosmic form of isolated GnRH deficiency (IGD) (Kallman syndrome) due to different LoF variants in TCF12.\r\n\r\nClinical manifestation included anosmia and pubertal failure (with reproductive phenotypes such as micropenis, bilateral cryptorchidism, hypospadias). Two unrelated individuals within the cohort additionally exhibited craniosynostosis, and a further two pedigrees had a family history of craniosynostosis (that did not affect the index case). Multiplex cases typically presented incomplete penetrance.\r\n\r\nLoss of tcf12 in a mutant zebrafish model perturbed GnRH neuronal patterning, with concomitant expression attenuation of tcf3a/b and stub1 (latter mutated in other syndromic forms of IGD). Furthermore, restored STUB1 expression rescued loss of tcf12 in vivo.\r\n\r\nGreen for mono-allelic variants, caution with bi-allelic variants. \nSources: Literature",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-23T00:34:02.848604+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: 32588888; Phenotypes: Skewed immune repertoire composition; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PTEN",
"entity_type": "gene"
}
]
}