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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=183",
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"results": [
{
"created": "2025-09-01T12:59:32.394512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VWA8 as Green List (high evidence)",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:59:32.384739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vwa8 has been classified as Green List (High Evidence).",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:59:19.878221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VWA8: Added comment: PMID 40638000: additional individual reported with LoF variant and RP, upgrade to Green.; Changed rating: GREEN; Changed publications: 37012052, 40638000",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:54:32.476160+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCLO were set to 25832664",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:54:06.174692+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCLO as Green List (high evidence)",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:54:06.162944+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pclo has been classified as Green List (High Evidence).",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:53:39.655518+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PCLO: Added comment: PMID 40661989: additional case report of a Thai patient with PCH and compound het LoF variants in this gene. PMID 32122952: rat model consistent with human phenotype. PMID 30287594: additional family with 5 affected sibs, compound het for LoF variants and PCH. Upgrade to GREEN.; Changed rating: GREEN; Changed publications: 25832664, 40661989, 32122952, 30287594",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:53:27.869832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCLO were set to 25832664",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:52:58.437016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCLO as Green List (high evidence)",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:52:58.426545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pclo has been classified as Green List (High Evidence).",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:52:43.194472+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PCLO: Added comment: PMID 40661989: additional case report of a Thai patient with PCH and compound het LoF variants in this gene.\r\nPMID 32122952: rat model consistent with human phenotype.\r\nPMID 30287594: additional family with 5 affected sibs, compound het for LoF variants and PCH. Upgrade to GREEN.; Changed rating: GREEN; Changed publications: 25832664, 40661989, 32122952, 30287594",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:51:32.671492+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCLO were set to 25832664",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:51:10.512124+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCLO as Green List (high evidence)",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:51:10.498037+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pclo has been classified as Green List (High Evidence).",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:50:07.742285+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PCLO: Changed rating: GREEN",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:49:59.933821+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PCLO: Added comment: PMID 30287594: additional family with 5 affected sibs, compound het for LoF variants and PCH. Upgrade to GREEN.; Changed publications: 25832664, 40661989, 32122952, 30287594",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:48:52.240410+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PCLO: Added comment: PMID 32122952: rat model consistent with human phenotype.; Changed publications: 25832664, 40661989, 32122952",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:47:13.618036+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PCLO: Added comment: PMID 40661989: additional case report of a Thai patient with PCH and compound het LoF variants in this gene.; Changed publications: 25832664, 40661989",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:45:22.011702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LSR were changed from transient neonatal cholestasis; intellectual disability; short stature to Progressive familial intrahepatic cholestasis, MONDO:0015762, LSR-related; transient neonatal cholestasis; intellectual disability; short stature",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:45:06.429377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LSR were set to 30250217; 32303357",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:44:49.544017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LSR as Green List (high evidence)",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:44:49.532406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsr has been classified as Green List (High Evidence).",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:44:34.822353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LSR: Added comment: PMID 40846272: further two patients with homozygous missense variants.\r\nPMID 40679108: additional case report, compound het LoF and missense variant in a 4yo with cholestasis and mild liver fibrosis.\r\nWe are aware of a further case internally, upgrade to GREEN.; Changed rating: GREEN; Changed publications: 32303357, 30250217, 40679108, 40846272; Changed phenotypes: Progressive familial intrahepatic cholestasis, MONDO:0015762, LSR-related, transient neonatal cholestasis, intellectual disability, short stature",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:43:41.825355+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LSR were changed from transient neonatal cholestasis; intellectual disability; short stature to Progressive familial intrahepatic cholestasis, MONDO:0015762, LSR-related; transient neonatal cholestasis; intellectual disability; short stature",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:43:15.011367+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LSR were set to 32303357; 30250217",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:42:22.289832+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LSR as Green List (high evidence)",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:42:22.279093+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsr has been classified as Green List (High Evidence).",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:42:00.619114+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LSR: Added comment: PMID 40846272: further two patients with homozygous missense variants.; Changed publications: 32303357, 30250217, 40679108, 40846272",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:41:16.694323+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LSR: Added comment: PMID 40679108: additional case report, compound het LoF and missense variant in a 4yo with cholestasis and mild liver fibrosis. We are aware of a further case internally, upgrade to GREEN.; Changed rating: GREEN; Changed publications: 32303357, 30250217, 40679108; Changed phenotypes: Progressive familial intrahepatic cholestasis, MONDO:0015762, LSR-related, transient neonatal cholestasis, intellectual disability, short stature",
"entity_name": "LSR",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:37:22.532349+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGSF10 were changed from delayed puberty; hypogonadotropic hypogonadism to Disorder of sex differentiation, MONDO:0002145, IGSF10-related; delayed puberty; hypogonadotropic hypogonadism",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:37:07.917285+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGSF10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Disorder of sex differentiation, MONDO:0002145, IGSF10-related; Mode of inheritance: None",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:34:30.848652+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF13 were changed from Mental retardation, autosomal recessive 60, MIM# 617432; Microcephaly to Intellectual developmental disorder, autosomal recessive 60, MIM# 617432",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:34:16.714897+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAF13 were set to 28257693",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:33:59.522492+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAF13: Added comment: Two more families reported, but with same homozygous missense variant as previous, c.119T>A p.Met40Lys, suggestive of founder effect. In addition to ID and microcephaly, DSD reported, which may also be relevant to this panel.; Changed publications: 28257693, 40679298; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 60, MIM# 617432",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:32:56.256713+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF13 were changed from Mental retardation, autosomal recessive 60, MIM# 617432 to Intellectual developmental disorder, autosomal recessive 60, MIM# 617432",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:32:33.284447+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAF13 were set to 28257693",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:32:07.458634+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAF13: Changed publications: 28257693, 40679298; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 60, MIM# 617432",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:31:19.791203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF13 were changed from Mental retardation, autosomal recessive 60, MIM# 617432 to Intellectual developmental disorder, autosomal recessive 60, MIM# 617432",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:31:00.820710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAF13 were set to 28257693",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:29:51.066552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAF13: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 60, MIM# 617432",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2025-09-01T12:29:25.760213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAF13: Added comment: Two more families reported, but with same homozygous missense variant as previous, c.119T>A p.Met40Lys, suggestive of founder effect. In addition to ID and microcephaly, DSD reported.; Changed publications: 28257693, 40679298",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:44:48.652592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGSF10 were changed from delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency to Disorder of sex differentiation, MONDO:0002145, IGSF10-related",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:44:32.452207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGSF10 were set to 27137492; 31042289",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:44:21.534734+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGSF10 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:44:01.769457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGSF10: Rating: AMBER; Mode of pathogenicity: None; Publications: 27137492, 31042289, 40700020; Phenotypes: Disorder of sex differentiation, MONDO:0002145, IGSF10-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:43:17.606010+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGSF10 were changed from delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency to Disorder of sex differentiation, MONDO:0002145, IGSF10-related",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:42:53.102128+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IGSF10: Changed phenotypes: Disorder of sex differentiation, MONDO:0002145, IGSF10-related",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:42:11.291353+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGSF10 were set to 27137492; 31042289",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:41:46.829914+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IGSF10: Added comment: PMID 40700020 provides some functional data to support pathogenicity of R156L and E161K, maintain AMBER rating.; Changed publications: 27137492, 31042289, 40700020",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:36:40.158938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TXNRD2 as Green List (high evidence)",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:36:40.147958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnrd2 has been classified as Green List (High Evidence).",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:36:19.447117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TXNRD2: Added comment: PMID 40726908: further family reported with compound het missense variants, some supportive data (reduced protein levels).\r\n\r\nTwo further case reports identified in PMIDs 38011841 and 39097530. Upgrade to GREEN.; Changed rating: GREEN; Changed publications: 34258490, 40726908, 38011841, 39097530",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:25:16.411261+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAAH2 were changed from Neuropsychiatric disorder to Neurodevelopmental disorder, MONDO:0700092, FAAH2-related",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:24:48.980597+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAAH2 were set to 25885783",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:24:23.116721+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAAH2: Added comment: Further case report of novel missense variant in an individual with a neurodevelopmental disorder, no supportive evidence.; Changed publications: 25885783, 40744325; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, FAAH2-related",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:23:27.182519+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAAH2 were changed from autism spectrum disorder MONDO:0005258 to Neurodevelopmental disorder, MONDO:0700092, FAAH2-related",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:23:12.003654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAAH2 were set to 34645488; 25885783",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:22:51.413053+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAAH2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2025-08-31T18:22:35.075821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAAH2: Rating: RED; Mode of pathogenicity: None; Publications: 40744325; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, FAAH2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2025-08-31T17:22:30.690291+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNFSF12 were set to 23493554",
"entity_name": "TNFSF12",
"entity_type": "gene"
},
{
"created": "2025-08-31T17:22:12.082126+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFSF12 were changed from Recurrent infections, poor antibody responses, decreased immunoglobulins to Inborn error of immunity, MONDO:0003778, TNFSF12-related",
"entity_name": "TNFSF12",
"entity_type": "gene"
},
{
"created": "2025-08-31T17:21:48.546786+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNFSF12: Changed phenotypes: Inborn error of immunity, MONDO:0003778, TNFSF12-related",
"entity_name": "TNFSF12",
"entity_type": "gene"
},
{
"created": "2025-08-31T17:21:33.388663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFSF12 were changed from Recurrent infections, poor antibody responses, decreased immunoglobulins to Inborn error of immunity, MONDO:0003778, TNFSF12-related",
"entity_name": "TNFSF12",
"entity_type": "gene"
},
{
"created": "2025-08-31T17:21:14.092878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNFSF12: Changed phenotypes: Inborn error of immunity, MONDO:0003778, TNFSF12-related",
"entity_name": "TNFSF12",
"entity_type": "gene"
},
{
"created": "2025-08-31T16:53:12.123097+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDC1 were changed from triple-A syndrome MONDO:0009279 to Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328",
"entity_name": "NDC1",
"entity_type": "gene"
},
{
"created": "2025-08-31T16:52:58.037583+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDC1",
"entity_type": "gene"
},
{
"created": "2025-08-31T16:52:43.889803+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDC1 were changed from triple-A syndrome MONDO:0009279 to Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328",
"entity_name": "NDC1",
"entity_type": "gene"
},
{
"created": "2025-08-31T16:52:20.352587+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDC1",
"entity_type": "gene"
},
{
"created": "2025-08-31T16:52:03.538215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDC1 were changed from triple-A syndrome MONDO:0009279 to Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328",
"entity_name": "NDC1",
"entity_type": "gene"
},
{
"created": "2025-08-31T16:51:45.416167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDC1",
"entity_type": "gene"
},
{
"created": "2025-08-31T16:51:04.246285+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEPHS1 were changed from Neurodevelopmental disorder, MONDO:0700092, SEPHS1-related to Ververi-Brady syndrome 2, MIM# 621325",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2025-08-31T16:50:40.902454+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEPHS1: Changed phenotypes: Ververi-Brady syndrome 2, MIM# 621325",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2025-08-31T16:50:24.986209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEPHS1 were changed from Neurodevelopmental disorder, MONDO:0700092, SEPHS1-related to Ververi-Brady syndrome 2, MIM# 621325",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2025-08-31T16:50:06.652899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEPHS1: Changed phenotypes: Ververi-Brady syndrome 2, MIM# 621325",
"entity_name": "SEPHS1",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:33:20.860382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFRSF21 were changed from high myopia to Myopia, MONDO:0001384, TNFRSF21-related",
"entity_name": "TNFRSF21",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:33:06.851104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNFRSF21: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopia, MONDO:0001384, TNFRSF21-related; Mode of inheritance: None",
"entity_name": "TNFRSF21",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:25:03.476155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMTC2 as Red List (low evidence)",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:25:03.466188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmtc2 has been classified as Red List (Low Evidence).",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:24:49.042898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TMTC2.",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:24:37.660807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMTC2: Added comment: Note the homozygous variant reported in PMID 27311106 is present in a high number of homozygotes in gnomAD.; Changed rating: RED",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:24:10.298479+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMTC2 as Red List (low evidence)",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:24:10.288037+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmtc2 has been classified as Red List (Low Evidence).",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:23:46.891807+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMTC2: Added comment: Note the homozygous variant reported in PMID 27311106 is present in a high number of homozygotes in gnomAD.; Changed rating: RED",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:20:24.592580+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMPRSS9 were changed from autism spectrum disorder to Neurodevelopmental disorder, MONDO:0700092, TMPRSS9-related",
"entity_name": "TMPRSS9",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:20:02.562403+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMPRSS9: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TMPRSS9-related",
"entity_name": "TMPRSS9",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:17:46.493916+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM65 were changed from Mitochondrial disease, MONDO:0044970, TMEM65-related to Mitochondrial disease, MONDO:0044970, TMEM65-related",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:17:23.832165+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM65 were changed from Mitochondrial encephalomyopathy to Mitochondrial disease, MONDO:0044970, TMEM65-related",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:16:49.030581+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM65: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TMEM65-related",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:16:34.558224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM65 were changed from Mitochondrial encephalomyopathy to Mitochondrial disease, MONDO:0044970, TMEM65-related",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2025-08-29T17:16:15.896311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM65: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TMEM65-related",
"entity_name": "TMEM65",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:51:24.919610+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLE2 were changed from Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism to Combined immunodeficiency MONDO:0015131, POLE2-related",
"entity_name": "POLE2",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:50:55.409664+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLE2: Changed phenotypes: Combined immunodeficiency MONDO:0015131, POLE2-related",
"entity_name": "POLE2",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:50:35.284353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLE2 were changed from Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism to Combined immunodeficiency MONDO:0015131, POLE2-related",
"entity_name": "POLE2",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:49:35.088310+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA6 as ready",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:49:35.079252+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla6 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:49:30.970569+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPLA6 were set to ",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:49:14.159377+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA6 were changed from to Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:49:04.711172+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPLA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:48:53.017861+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PNPLA6: Changed phenotypes: Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2025-08-29T16:47:48.015976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA6 were changed from Boucher-Neuhauser syndrome, 215470; ?Laurence-Moon syndrome, 245800; Oliver-McFarlane syndrome, 275400; Spastic paraplegia 39, autosomal recessive, 612020 to Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155; Spastic paraplegia 39, autosomal recessive MIM#612020",
"entity_name": "PNPLA6",
"entity_type": "gene"
}
]
}