HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=51",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=49",
"results": [
{
"created": "2026-01-26T13:20:38.063808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:09:49.962398+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35245678; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CSMD3",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:09:23.340594+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35245678; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CSMD3",
"entity_type": "gene"
},
{
"created": "2026-01-26T10:42:12.196089+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2026-01-26T08:06:31.782901+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SF3B1 were changed from complex neurodevelopmental disorder MONDO:0100038 to complex neurodevelopmental disorder MONDO:0100038, SF3B1-related",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2026-01-26T08:05:58.025516+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SF3B1 were set to ",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2026-01-26T08:05:22.414620+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SF3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41577671; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, SF3B1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2026-01-26T08:03:23.199937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SF3B1 were changed from complex neurodevelopmental disorder MONDO:0100038 to complex neurodevelopmental disorder MONDO:0100038, SF3B1-related",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2026-01-26T08:03:00.214088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SF3B1 were set to ",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2026-01-26T08:02:36.538966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SF3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41577671; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, SF3B1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:50:21.106443+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZP3 as Green List (high evidence)",
"entity_name": "ZP3",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:50:21.099181+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zp3 has been classified as Green List (High Evidence).",
"entity_name": "ZP3",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:50:13.264625+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Presentations with POF reported, PMID 39485610.; to: Presentations with POF reported, PMID 39485610, upgrade to Green.",
"entity_name": "ZP3",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:49:50.564263+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZP3: Added comment: Presentations with POF reported, PMID 39485610.; Changed rating: GREEN; Changed publications: 28886344, 30810869, 39485610",
"entity_name": "ZP3",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:46:54.016036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present.; to: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present. Also note relatively high gnomAD counts for the reported variants, hence AMBER for association with hypothyroidism.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:46:09.095861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUBB1: Changed rating: AMBER",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:45:55.725635+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBB1 as Amber List (moderate evidence)",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:45:55.718880+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:45:48.250104+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for this association.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for mono-allelic. RED for bi-allelic.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:45:26.738110+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts. AMBER for this association.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for this association.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:45:06.823969+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:44:24.539868+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUBB1: Changed rating: AMBER",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:44:13.692085+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts. AMBER for this association.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:41:17.785400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB1 were changed from Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141 to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141; Hypothyroidism",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:40:53.781227+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB1 were set to 32757236; 31565851; 29333906; 18849486",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:40:33.265232+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic.; to: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:40:14.254145+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:39:52.188031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUBB1: Added comment: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic.; Changed publications: 30446499, 31642429, 40071799; Changed phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141, Hypothyroidism",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:38:12.915739+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB1 were set to 30446499; 31642429",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:38:04.292772+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:37:49.186331+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUBB1: Added comment: Further 4 individuals reported with heterozygous missense variants and hypothyroidism.; Changed rating: GREEN; Changed publications: 40071799; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:26:24.364034+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 33966472 reviews 3 previously published cases of heterozygous variants and reports another -- attenuated phenotype.; to: PMID 33966472 reviews 3 previously published cases of heterozygous variants and reports another -- attenuated phenotype. All had variants at same position, c.65-2A. LIMITED evidence for this MOI.",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:07:36.249873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.\r\n\r\nAssociation with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; to: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.\r\n\r\nAssociation with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.\r\n\r\nAssociations with RP are AMBER due to the recurrent nature of the variants.",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:06:44.080691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAG were changed from Oguchi disease-1, MIM# 258100; Retinitis pigmentosa 47, MIM# 613758 to Oguchi disease-1, MIM# 258100; Retinitis pigmentosa 47, autosomal recessive MIM# 613758; Retinitis pigmentosa 96, autosomal dominant, MIM# 620228",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:06:21.451602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAG were set to 7670478; 9565049; 15234147; 28549094; 33047631",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:05:56.438049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:05:11.668331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SAG: Added comment: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.\r\n\r\nAssociation with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; Changed publications: 7670478, 9565049, 15234147, 28549094, 33047631, 9565049, 31257036; Changed phenotypes: Oguchi disease-1, MIM# 258100, Retinitis pigmentosa 47, autosomal recessive MIM# 613758, Retinitis pigmentosa 96, autosomal dominant, MIM# 620228; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:03:10.708830+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAG were changed from Retinitis pigmentosa 47, MIM# 613758 to Retinitis pigmentosa 47, autosomal recessive MIM# 613758; Retinitis pigmentosa 96, autosomal dominant, MIM# 620228",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:02:59.967523+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAG were set to 28549094; 33047631",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:02:45.220421+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:01:52.260017+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.; to: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2026-01-25T13:01:39.202134+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SAG: Added comment: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; Changed publications: 28549094, 33047631, 9565049, 31257036]; Changed phenotypes: Retinitis pigmentosa 47, autosomal recessive MIM# 613758, Retinitis pigmentosa 96, autosomal dominant, MIM# 620228; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:55:55.711385+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SAG: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:53:58.053610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD).; to: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD).\r\n\r\nRED for this MOI/association.",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:53:20.724911+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNF213: Rating: RED; Mode of pathogenicity: None; Publications: 28962888; Phenotypes: Moyamoya disease, MONDO:0016820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:52:40.963818+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF213 as ready",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:52:40.953337+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf213 has been classified as Red List (Low Evidence).",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:52:38.501188+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF213 were changed from to Moyamoya disease, MONDO:0016820",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:52:29.384880+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNF213: Changed phenotypes: Moyamoya disease, MONDO:0016820",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:52:08.784821+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNF213 was added\ngene: RNF213 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: RNF213 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF213 were set to 28962888\nReview for gene: RNF213 was set to RED\nAdded comment: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD). \nSources: Literature",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:39:03.772571+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSEN1 as ready",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:39:03.762076+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psen1 has been classified as Green List (High Evidence).",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:39:00.774610+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSEN1 were changed from to Alzheimer disease, type 3 (MONDO:0011913; MIM#607822)",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:38:34.303600+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSEN1 were set to 20301340; 7596406; 16033913",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:38:11.676725+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSEN1 were set to ",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:37:12.040104+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:36:48.289123+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:27:51.277775+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTOG were set to 29800624; 23122587",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:27:23.253276+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30139988, 31645975, 32048449, 32244554, 32860223, 34118384, 35248088, 38894825, 39858607, 40389292, 40565546, 33136635, 38519595, 40565546; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:26:46.308526+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTOG were set to 29800624; 23122587",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:26:19.086122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30139988, 31645975, 32048449, 32244554, 32860223, 34118384, 35248088, 38894825, 39858607, 40389292, 40565546, 33136635, 38519595, 40565546; Phenotypes: Deafness, autosomal recessive 18B - MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:00:38.268383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, MIM# 251850; Cholestasis to Microvillus inclusion disease, MIM# 251850; Cholestasis, progressive familial intrahepatic, 10, MIM# 619868",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2026-01-25T12:00:19.143793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO5B were set to 30564347; 29266534; 28027573; 27532546",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2026-01-25T11:59:46.448414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYO5B: Added comment: PMID 33525641 summarises data on 114 individuals with bi-allelic variants in MYO5B: (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED).; Changed publications: 30564347, 29266534, 28027573, 27532546, 33525641; Changed phenotypes: Microvillus inclusion disease, MIM# 251850, Cholestasis, progressive familial intrahepatic, 10, MIM# 619868",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2026-01-25T11:59:11.055353+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO5B were changed from Cholestasis; Microvillus inclusion disease, MIM#251850 to Microvillus inclusion disease, MIM#251850; Cholestasis, progressive familial intrahepatic, 10, MIM# 619868",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2026-01-25T11:58:47.980224+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO5B were set to 28027573; 27532546",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2026-01-25T11:58:21.085023+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYO5B: Added comment: PMID 33525641 summarises data on 114 individuals with bi-allelic variants in MYO5B: (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED).; Changed publications: 28027573, 27532546, 33525641",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2026-01-25T11:55:59.014016+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYO5B: Changed phenotypes: Microvillus inclusion disease, MIM#251850, Cholestasis, progressive familial intrahepatic, 10, MIM# 619868",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2026-01-25T11:45:22.154419+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LZTR1 as ready",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2026-01-25T11:45:22.141572+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lztr1 has been classified as Green List (High Evidence).",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2026-01-25T11:45:19.432762+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LZTR1 were changed from to Schwannomatosis-2, susceptibility to MIM#615670; Noonan syndrome 10 MIM# 616564; Noonan syndrome 2, MIM# 605275",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2026-01-25T11:44:39.629550+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LZTR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2026-01-25T11:44:15.851807+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LZTR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2026-01-25T11:43:26.889246+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwannomatosis-2, susceptibility to MIM#615670, Noonan syndrome 10 MIM# 616564, Noonan syndrome 2, MIM# 605275; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2026-01-24T18:41:46.069596+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2026-01-24T18:41:26.736893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported, functional data. Different patterns of neuropathy described.; to: Multiple AD families reported, functional data. Different patterns of neuropathy described.",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2026-01-24T18:40:07.274261+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HSPB1: Added comment: PMID 33943041: two unrelated individuals with homozygous missense variants, p.S135F and p.R136L, and CMT. Both variants already reported as pathogenic in the heterozygous state. Third compound het individual reported in 35328016.; Changed publications: 21785432, 15122254, 18832141, 32639100, 32334137, 33943041, 35328016; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2026-01-24T18:03:47.719936+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPAA1 were changed from Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810 to Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810; Vascular malformation, MONDO:0024291, GPAA1-relatedVascular malformation, MONDO:0024291, GPAA1-related",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2026-01-24T18:03:27.453799+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPAA1 were changed from Vascular anomalies to Vascular malformation, MONDO:0024291, GPAA1-related",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2026-01-24T18:03:17.494910+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Vascular malformation, MONDO:0024291, GPAA1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2026-01-24T18:03:08.557950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPAA1 were set to 29100095",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2026-01-24T18:02:24.507622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPAA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2026-01-24T18:02:03.812326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.; to: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.\r\n\r\nAMBER for this MOI.",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2026-01-24T18:01:44.661585+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPAA1: Changed phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810, Vascular malformation, MONDO:0024291, GPAA1-related",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2026-01-24T18:01:09.080073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPAA1: Added comment: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.; Changed publications: 29100095, 32533362; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:54:49.811811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLI1 were set to 10891501; 10981960; 24100448; 28255014; 26316623",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:54:31.088800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:54:14.098008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24100448, 28255014, 26316623, 26494917; Phenotypes: Bleeding disorder, platelet-type, 21, MIM# 617443; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:27:47.271842+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F12 as ready",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:27:47.261147+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f12 has been classified as Green List (High Evidence).",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:27:44.810369+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F12 were changed from Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526 to Factor XII deficiency, MIM# 234000",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:27:16.447175+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F12 were set to 8528215; 10361128; 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:26:47.401373+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F12 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:25:45.355969+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene F12 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-24T17:25:45.020467+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F12 was added\ngene: F12 was added to Bleeding and Platelet Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: F12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: F12 were set to 8528215; 10361128; 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767\nPhenotypes for gene: F12 were set to Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526\nMode of pathogenicity for gene: F12 was set to Other",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:24:34.098591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F12 were changed from Hereditary angioedema type 3 MONDO:0012526 to Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:24:11.811886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F12 were set to 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:23:48.402861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:23:27.057324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528215, 10361128; Phenotypes: Factor XII deficiency, MIM# 234000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:07:25.641955+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS51 as ready",
"entity_name": "VPS51",
"entity_type": "gene"
}
]
}