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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1372",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1370",
"results": [
{
"created": "2021-03-27T08:18:47.977842+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP9X as ready",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:18:47.969270+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp9x has been classified as Green List (High Evidence).",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:18:45.321511+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, syndromic, female-restricted 300968 to Mental retardation, X-linked 99, syndromic, female-restricted MIM#300968; MONDO:0010502",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:18:05.552089+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP9X were set to 26833328",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:17:43.701677+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833328, 33638286, 33298948; Phenotypes: Mental retardation, X-linked 99, syndromic, female-restricted, MIM# 300968; Mode of inheritance: Other",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:11:10.151395+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TXNL4A as ready",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:11:10.138068+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Green List (High Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:11:03.713329+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TXNL4A as Green List (high evidence)",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:11:03.703193+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Green List (High Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:10:39.097520+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TXNL4A was added\ngene: TXNL4A was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nSV/CNV, 5'UTR tags were added to gene: TXNL4A.\nMode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TXNL4A were set to 25434003\nPhenotypes for gene: TXNL4A were set to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064\nReview for gene: TXNL4A was set to GREEN\nAdded comment: Burn-McKeown syndrome is a rare condition in which individuals with normal intellectual development exhibit the characteristic combination of choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Note 34-bp deletion in the promoter of the TXNL4A gene (chr18:77,748,581-77,748,614del, GRCh37) was identified in heterozygous or homozygous state in all the families reported originally. Haplotype analysis revealed that the promoter deletions were located on different haplotypes and thus most likely occurred due to recurrent events rather than a founder effect. \nSources: Expert Review",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:08:47.170422+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TXNL4A as ready",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:08:47.158333+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Green List (High Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:08:42.416618+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TXNL4A.\nTag 5'UTR tag was added to gene: TXNL4A.",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:08:31.838804+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNL4A were changed from BURN-MCKEOWN SYNDROME; BMKS; Cleft palate to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:08:16.179768+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572, Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:07:19.622648+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TXNL4A.\nTag 5'UTR tag was added to gene: TXNL4A.",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:07:01.252407+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TXNL4A as ready",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:07:01.240851+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Green List (High Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:06:44.131046+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNL4A were changed from to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:06:15.690743+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TXNL4A were set to ",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:05:54.149714+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TXNL4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:05:23.963717+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572, Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:04:11.391182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TXNL4A as ready",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:04:11.381337+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Green List (High Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:04:03.795184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNL4A were changed from to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:03:44.533199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TXNL4A were set to ",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:03:26.356071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TXNL4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:03:09.325148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TXNL4A.\nTag 5'UTR tag was added to gene: TXNL4A.",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:02:54.552377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572, Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:02:06.970779+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TXNL4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572, Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T08:00:36.361930+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNL4A were changed from Burn-McKeown syndrome\t608572 to Burn-McKeown syndrome, MIM#\t608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:58:59.396081+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TXNL4A as ready",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:58:59.384040+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Green List (High Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:58:53.548586+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TXNL4A.\nTag 5'UTR tag was added to gene: TXNL4A.",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:58:33.773180+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:51:52.047856+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPINT2 as ready",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:51:52.035694+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spint2 has been classified as Green List (High Evidence).",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:51:49.706205+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPINT2 were changed from to Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420; MONDO:0010036",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:51:08.055823+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPINT2 were set to ",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:50:42.290423+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SPINT2.",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:50:31.073241+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19185281, 20009592, 24142340, 30445423; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420, MONDO:0010036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:49:21.877052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPINT2 were changed from Diarrhoea 3, secretory sodium, congenital, syndromic 270420 to Diarrhoea 3, secretory sodium, congenital, syndromic 270420; MONDO:0010036",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:49:03.480076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPINT2 were set to 24142340; 30445423",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:48:42.400262+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SPINT2.",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:47:08.645603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 15 unrelated families reported.; to: Well established gene-disease association. PMID 30445423 reviews 34 patients from 26 families: 13 different variants in SPINT2 were seen, including 3 premature termination codons, 2 start codon removals, and 3 canonical splice site variants, supporting loss of function as the pathogenic mechanism. The most commonly observed variant was Y163C, observed in 40 (59%) of 68 disease alleles. Seven unrelated patients with the Y163C mutation had a shared haplotype, suggesting that it is a founder mutation. Choanal atresia (20/34) and keratitis of infantile onset (26/34) were the most common findings. All patients presented with intractable diarrhoea, with onset typically in the first 2 weeks of life. Episodes of intestinal pseudoobstruction sometimes preceded the onset of diarrhoea. Characteristic epithelial tufts on intestinal histology were seen in 13 of the 34 patients.",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:46:55.401569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPINT2: Changed publications: 19185281, 20009592, 24142340, 30445423; Changed phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic 270420, MONDO:0010036",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:45:04.560935+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPINT2 were changed from Diarrhoea 3, secretory sodium, congenital, syndromic 270420 to Diarrhoea 3, secretory sodium, congenital, syndromic 270420; MONDO:0010036",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:44:39.851059+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPINT2 were set to 24142340; 30445423",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:44:09.787657+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPINT2: Changed publications: 19185281, 20009592, 24142340, 30445423",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:43:49.396421+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SPINT2.",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:43:37.480811+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SPINT2.",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:43:28.800032+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 15 unrelated families reported.; to: Well established gene-disease association. PMID 30445423 reviews 34 patients from 26 families: 13 different variants in SPINT2 were seen, including 3 premature termination codons, 2 start codon removals, and 3 canonical splice site variants, supporting loss of function as the pathogenic mechanism. The most commonly observed variant was Y163C, observed in 40 (59%) of 68 disease alleles. Seven unrelated patients with the Y163C mutation had a shared haplotype, suggesting that it is a founder mutation. Choanal atresia (20/34) and keratitis of infantile onset (26/34) were the most common findings. All patients presented with intractable diarrhoea, with onset typically in the first 2 weeks of life. Episodes of intestinal pseudoobstruction sometimes preceded the onset of diarrhoea. Characteristic epithelial tufts on intestinal histology were seen in 13 of the 34 patients.",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:42:23.851352+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPINT2: Changed phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic 270420, MONDO:0010036",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:41:38.558745+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPINT2 as ready",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:41:38.549963+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spint2 has been classified as Green List (High Evidence).",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:41:34.399776+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPINT2 were changed from Diarrhea 3, secretory sodium, congenital, syndromic, MIM#\t270420; MONDO:0010036 to Diarrhoea 3, secretory sodium, congenital, syndromic, MIM#\t270420; MONDO:0010036",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:41:28.063085+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPINT2 were changed from Diarrhea 3, secretory sodium, congenital, syndromic\t270420 to Diarrhea 3, secretory sodium, congenital, syndromic, MIM#\t270420; MONDO:0010036",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:40:52.494123+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPINT2 were set to ",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:40:40.245096+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19185281, 20009592, 24142340, 30445423; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPINT2",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:34:59.841221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE1 as ready",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:34:59.827067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe1 has been classified as Green List (High Evidence).",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:34:52.100098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE1 were changed from to Bamforth-Lazarus syndrome, MIM# 241850; MONDO:0009437",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-27T07:34:31.392656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXE1 were set to ",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-26T21:03:28.372953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-26T21:03:09.682322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697705, 12165566, 16882747, 24219130, 20484477; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850, MONDO:0009437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-26T21:02:11.134618+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE1 were changed from Bamforth-Lazarus syndrome, MIM# 241850 to Bamforth-Lazarus syndrome, MIM# 241850; MONDO:0009437",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-26T21:00:54.064716+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE1 as ready",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-26T21:00:54.053605+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe1 has been classified as Green List (High Evidence).",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-26T21:00:50.913754+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE1 were changed from Bamforth-Lazarus syndrome\t241850 to Bamforth-Lazarus syndrome, MIM# 241850",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-26T21:00:26.837927+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXE1 were set to 20453517; 24219130; 9697705",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-26T21:00:01.231962+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697705, 12165566, 16882747, 24219130, 20484477; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:51:13.868621+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR3 as ready",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:51:13.858962+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Green List (High Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:51:10.367586+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGFR3 were set to 20199409; 17935505; 11426459",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:50:54.761948+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31016899, 11426459; Phenotypes: Crouzon syndrome with acanthosis nigricans 612247; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:47:52.049902+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIB1 as ready",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:47:52.038315+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mib1 has been classified as Green List (High Evidence).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:47:48.272928+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIB1 as Green List (high evidence)",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:47:48.263079+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mib1 has been classified as Green List (High Evidence).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:46:46.446347+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIB1 was added\ngene: MIB1 was added to Congenital Heart Defect. Sources: Expert Review\nMode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIB1 were set to 33057194\nPhenotypes for gene: MIB1 were set to Congenital heart disease\nReview for gene: MIB1 was set to GREEN\nAdded comment: Established congenital cardiac disease gene. PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Expert Review",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:46:26.620994+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIB1 was added\ngene: MIB1 was added to Congenital Heart Defect. Sources: Expert Review\nMode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIB1 were set to 33057194\nPhenotypes for gene: MIB1 were set to Congenital heart disease\nReview for gene: MIB1 was set to GREEN\nAdded comment: Established congenital cardiac disease gene. PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Expert Review",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:45:04.109341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIB1 as ready",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:45:04.104530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Amber for LVNC/cardiomyopathy. Green for congenital heart disease.",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:45:04.080216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mib1 has been classified as Green List (High Evidence).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:44:34.665879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MIB1 were changed from Left ventricular noncompaction 7 MIM#615092 to Left ventricular noncompaction 7 MIM#615092; cardiomyopathy; congenital heart disease",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:44:01.227883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30322850, 23314057; Phenotypes: Left ventricular noncompaction 7, MIM# 615092, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:42:47.052726+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIB1 as ready",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:42:47.037932+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mib1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:42:43.109028+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MIB1 were changed from Left ventricular noncompaction 7 to Left ventricular noncompaction 7, MIM# 615092; cardiomyopathy",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:42:21.247001+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIB1 as Amber List (moderate evidence)",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:42:21.235687+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mib1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:39:40.597738+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23314057; Phenotypes: Left ventricular noncompaction 7, MIM# 615092, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:32:33.182851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANO3 as ready",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:32:33.173056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano3 has been classified as Green List (High Evidence).",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:32:17.438763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO3 were changed from to Dystonia 24, MIM#615034; familial form of cranio-cervical dystonia",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:31:58.288575+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANO3 were set to ",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:31:38.925102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:31:17.467850+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANO3 as ready",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:31:17.459090+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano3 has been classified as Red List (Low Evidence).",
"entity_name": "ANO3",
"entity_type": "gene"
},
{
"created": "2021-03-26T20:31:14.111522+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO3 were changed from to Dystonia 24, 615034; familial form of cranio-cervical dystonia",
"entity_name": "ANO3",
"entity_type": "gene"
}
]
}