HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=165",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=163",
"results": [
{
"created": "2025-09-23T14:59:17.842806+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANLN were set to 24676636; 30002222",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:57:46.099099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from Intellectual developmental disorder 34 (MIM#616351) to Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:57:31.464108+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL4A3BP: Changed phenotypes: Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:56:33.262584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) to Intellectual developmental disorder 34 (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:54:36.155401+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKCI as ready",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:54:36.148531+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkci has been classified as Green List (High Evidence).",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:54:33.895195+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKCI were changed from Van der Woude syndrome MONDO:0019508 to Van der Woude syndrome MONDO:0019508, PRKCI-related",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:54:20.083568+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKCI as Green List (high evidence)",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:54:20.076701+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkci has been classified as Green List (High Evidence).",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:54:10.299771+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKCI: Rating: GREEN; Mode of pathogenicity: None; Publications: 40902599; Phenotypes: Van der Woude syndrome MONDO:0019508, PRKCI-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:53:13.995467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKCI as ready",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:53:13.984003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkci has been classified as Green List (High Evidence).",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:53:08.376926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKCI were changed from Van der Woude syndrome MONDO:0019508 to Van der Woude syndrome MONDO:0019508, PRKCI-related",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:52:49.101797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKCI as Green List (high evidence)",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:52:49.094212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkci has been classified as Green List (High Evidence).",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:52:35.283499+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKCI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Van der Woude syndrome MONDO:0019508, PRKCI-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:48:46.081576+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM167A as ready",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:48:46.074879+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem167a has been classified as Green List (High Evidence).",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:48:32.683675+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM167A as ready",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:48:32.676488+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem167a has been classified as Green List (High Evidence).",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:48:11.396461+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM167A as ready",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:48:11.389228+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem167a has been classified as Green List (High Evidence).",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:47:58.975334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM167A as ready",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:47:58.967831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem167a has been classified as Green List (High Evidence).",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:47:46.822518+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM167A as ready",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:47:46.811863+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem167a has been classified as Green List (High Evidence).",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:46:36.477339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BAIAP3 as ready",
"entity_name": "BAIAP3",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:46:36.470304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: baiap3 has been classified as Red List (Low Evidence).",
"entity_name": "BAIAP3",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:46:27.856178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BAIAP3 was added\ngene: BAIAP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BAIAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BAIAP3 were set to 40943168\nPhenotypes for gene: BAIAP3 were set to Retinitis pigmentosa MONDO:0019200, BAIAP3-related\nReview for gene: BAIAP3 was set to RED\nAdded comment: 1 individual with retinitis pigmentosa with onset at 18yrs. Trio WGS identified biallelic missense variants in BAIAP3 gene (c.556C>G [p.Arg186Gly] and c.3099C>G [p.His1033Gln]). Both variants were very rare in gnomAD, and the healthy brother was heterozygous for one variant. BAIAP3 interacts with SNARE proteins, whose function is essential for endosome-mediated retrograde trafficking. Single-cell RNA sequencing profiling showed enhanced expression of the BAIAP3 gene in ciliated cells, astrocytes, excitatory and inhibitory neurons, and enteroendocrine cells. Confocal microscopy analysis showed elongated cilia in patient-derived and BAIAP3-depleted fibroblasts compared to control cells. \nSources: Literature",
"entity_name": "BAIAP3",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:44:13.933295+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BAIAP3 as ready",
"entity_name": "BAIAP3",
"entity_type": "gene"
},
{
"created": "2025-09-23T14:44:13.925502+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: baiap3 has been classified as Red List (Low Evidence).",
"entity_name": "BAIAP3",
"entity_type": "gene"
},
{
"created": "2025-09-23T12:51:24.944850+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.129",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-09-23T12:48:53.623908+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.7",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: RS1 was added\ngene: RS1 was added to Vitreoretinopathy. Sources: Other\nMode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RS1 were set to 20301401, 25999676\nPhenotypes for gene: RS1 were set to Retinoschisis MONDO:0004579\nReview for gene: RS1 was set to GREEN\nAdded comment: 4-40% of individuals with XLRS develop vitreous haemorrhage. Retinoschisis is also referred to vitreous veils of the retina.\r\n\r\nPMID: 25999676\r\n10 individuals presented with macular schisis. Vitreous haemorhaging was a presenting feature in 4 individuals from different families. \nSources: Other",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2025-09-23T11:50:32.563632+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.304",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: KDM5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 33350388; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), KDM5A-related, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2025-09-23T11:49:54.739516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3137",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: KDM5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 33350388; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), KDM5A-related, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2025-09-23T10:33:30.002352+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.229",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: ANLN: Rating: AMBER; Mode of pathogenicity: None; Publications: 24676636, 30002222, 34819827, 38322629, 37957688; Phenotypes: Focal segmental glomerulosclerosis 8, MIM#616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:11:38.369692+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.130",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM71 were changed from Congenital hydrocephalus 4 (MIM#618667) to Congenital hydrocephalus 4 (MIM#618667)",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:11:25.920812+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM71 were changed from Congenital hydrocephalus 4 (MIM#618667) to Congenital hydrocephalus 4 (MIM#618667)",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:11:13.617538+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM71 were changed from Hydrocephalus, congenital communicating, 1\t618667 to Congenital hydrocephalus 4 (MIM#618667)",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:10:53.419496+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.418",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM71 were changed from Hydrocephalus, congenital communicating, 1 - #618667 to Congenital hydrocephalus 4 (MIM#618667)",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:10:34.738212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3137",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM71 were changed from Congenital hydrocephalus 4 (MIM#618667) to Congenital hydrocephalus 4 (MIM#618667)",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:10:31.770761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3137",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM71 were changed from Hydrocephalus, congenital communicating, 1\t618667 to Congenital hydrocephalus 4 (MIM#618667)",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:09:21.446579+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.211",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) to Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:09:03.851429+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.304",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from Intellectual developmental disorder 34 (MIM#616351) to Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:09:02.411291+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.26",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from Intellectual developmental disorder 34 (MIM#616351) to Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:08:58.825717+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.210",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from Intellectual developmental disorder 34 (MIM#616351) to Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:08:32.175265+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.417",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from Mental retardation, autosomal dominant 34, MIM# 616351 to Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:08:14.785618+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3136",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) to Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2025-09-22T16:08:08.694198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3135",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from Intellectual developmental disorder 34 (MIM#616351) to Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2025-09-22T14:29:39.107288+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.270",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PRKCI was added\ngene: PRKCI was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: PRKCI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKCI were set to 40902599\nPhenotypes for gene: PRKCI were set to Van der Woude syndrome MONDO:0019508\nReview for gene: PRKCI was set to AMBER\nAdded comment: Multiple reported variants in affected individuals mainly presenting with lower lip pits and orofacial clefts (OFCs). Some individuals presented with a more severe phenotype inclusing seizures, ID/DD and urogenital anomalies. Supportive zebrafish model supporting a loss-of-function mechanism was performed on three recurrent variants [c.389G>A (p.Arg130His), c.1148A>G (p.Asn383Ser), and c.1155A>C (p.Leu385Phe)] however there is not enough evidence to show that LoF is the mechanism of disease.\r\n\r\nThe gene is not constrained for LoF in gnomAD and there are no pathogenic SNVs reported in ClinVar at this present time. Amber until further evidence is published in support of this gene-disease association. \nSources: Literature",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-22T14:28:51.167851+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3134",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PRKCI was added\ngene: PRKCI was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRKCI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKCI were set to 40902599\nPhenotypes for gene: PRKCI were set to Van der Woude syndrome MONDO:0019508\nReview for gene: PRKCI was set to AMBER\nAdded comment: Multiple reported variants in affected individuals mainly presenting with lower lip pits and orofacial clefts (OFCs). Some individuals presented with a more severe phenotype inclusing seizures, ID/DD and urogenital anomalies. Supportive zebrafish model supporting a loss-of-function mechanism was performed on three recurrent variants [c.389G>A (p.Arg130His), c.1148A>G (p.Asn383Ser), and c.1155A>C (p.Leu385Phe)] however there is not enough evidence to show that LoF is the mechanism of disease.\r\n\r\nThe gene is not constrained for LoF in gnomAD and there are no pathogenic SNVs reported in ClinVar at this present time. Amber until further evidence is published in support of this gene-disease association. \nSources: Literature",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:27:26.255465+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.209",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TMEM167A as Green List (high evidence)",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:27:26.248281+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.209",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem167a has been classified as Green List (High Evidence).",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:27:21.172875+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.339",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TMEM167A as Green List (high evidence)",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:27:21.159776+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.339",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem167a has been classified as Green List (High Evidence).",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:27:07.800881+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.303",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TMEM167A as Green List (high evidence)",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:27:07.790730+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.303",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem167a has been classified as Green List (High Evidence).",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:26:57.772704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3134",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TMEM167A as Green List (high evidence)",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:26:57.764995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3134",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem167a has been classified as Green List (High Evidence).",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:26:49.671999+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.338",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TMEM167A was added\ngene: TMEM167A was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM167A were set to PMID: 40924476\nPhenotypes for gene: TMEM167A were set to Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related\nReview for gene: TMEM167A was set to GREEN\nAdded comment: 6 individuals from 6 unrelated families (4/6 consanguineous) presenting with neonatal diabetes onset <4mths (6/6), severe microcephaly (6/6), epilepsy (5/6), and developmental delay (4/6). \r\n\r\nWhole genome sequencing identified biallelic variants in TMEM167A gene. Variants were homozygous in 5/6 families, and variant types were missense (4), frameshift (1), and splice (1), and all variants were rare/unreported in gnomAD. Segregation studies not reported in paper. \r\n\r\nMicrocephaly, epilepsy and diabetes syndrome has 2 known associated genes (IER3IP1 and YIPF5) which encode proteins involved in endoplasmic reticulum to Golgi trafficking. TMEM167A is highly expressed in developing and adult human pancreas and brain. Both TMEM167A depletion in EndoC-βH1 cells and knock‑in of p.Val59Glu variant in iPSC-derived β cells sensitized β cells to ER stress. The p.Val59Glu variant impaired proinsulin trafficking to the Golgi and induced iPSC-β cell dysfunction. \nSources: Literature",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:26:40.688318+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.147",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TMEM167A as Green List (high evidence)",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:26:40.676217+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.147",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem167a has been classified as Green List (High Evidence).",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:26:35.001890+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.302",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TMEM167A was added\ngene: TMEM167A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM167A were set to PMID: 40924476\nPhenotypes for gene: TMEM167A were set to Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related\nReview for gene: TMEM167A was set to GREEN\nAdded comment: 6 individuals from 6 unrelated families (4/6 consanguineous) presenting with neonatal diabetes onset <4mths (6/6), severe microcephaly (6/6), epilepsy (5/6), and developmental delay (4/6). \r\n\r\nWhole genome sequencing identified biallelic variants in TMEM167A gene. Variants were homozygous in 5/6 families, and variant types were missense (4), frameshift (1), and splice (1), and all variants were rare/unreported in gnomAD. Segregation studies not reported in paper. \r\n\r\nMicrocephaly, epilepsy and diabetes syndrome has 2 known associated genes (IER3IP1 and YIPF5) which encode proteins involved in endoplasmic reticulum to Golgi trafficking. TMEM167A is highly expressed in developing and adult human pancreas and brain. Both TMEM167A depletion in EndoC-βH1 cells and knock‑in of p.Val59Glu variant in iPSC-derived β cells sensitized β cells to ER stress. The p.Val59Glu variant impaired proinsulin trafficking to the Golgi and induced iPSC-β cell dysfunction. \nSources: Literature",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:26:29.001847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3133",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TMEM167A was added\ngene: TMEM167A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM167A were set to PMID: 40924476\nPhenotypes for gene: TMEM167A were set to Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related\nReview for gene: TMEM167A was set to GREEN\nAdded comment: 6 individuals from 6 unrelated families (4/6 consanguineous) presenting with neonatal diabetes onset <4mths (6/6), severe microcephaly (6/6), epilepsy (5/6), and developmental delay (4/6). \r\n\r\nWhole genome sequencing identified biallelic variants in TMEM167A gene. Variants were homozygous in 5/6 families, and variant types were missense (4), frameshift (1), and splice (1), and all variants were rare/unreported in gnomAD. Segregation studies not reported in paper. \r\n\r\nMicrocephaly, epilepsy and diabetes syndrome has 2 known associated genes (IER3IP1 and YIPF5) which encode proteins involved in endoplasmic reticulum to Golgi trafficking. TMEM167A is highly expressed in developing and adult human pancreas and brain. Both TMEM167A depletion in EndoC-βH1 cells and knock‑in of p.Val59Glu variant in iPSC-derived β cells sensitized β cells to ER stress. The p.Val59Glu variant impaired proinsulin trafficking to the Golgi and induced iPSC-β cell dysfunction. \nSources: Literature",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:26:17.297914+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.208",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TMEM167A was added\ngene: TMEM167A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM167A were set to PMID: 40924476\nPhenotypes for gene: TMEM167A were set to Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related\nReview for gene: TMEM167A was set to GREEN\nAdded comment: 6 individuals from 6 unrelated families (4/6 consanguineous) presenting with neonatal diabetes onset <4mths (6/6), severe microcephaly (6/6), epilepsy (5/6), and developmental delay (4/6). \r\n\r\nWhole genome sequencing identified biallelic variants in TMEM167A gene. Variants were homozygous in 5/6 families, and variant types were missense (4), frameshift (1), and splice (1), and all variants were rare/unreported in gnomAD. Segregation studies not reported in paper. \r\n\r\nMicrocephaly, epilepsy and diabetes syndrome has 2 known associated genes (IER3IP1 and YIPF5) which encode proteins involved in endoplasmic reticulum to Golgi trafficking. TMEM167A is highly expressed in developing and adult human pancreas and brain. Both TMEM167A depletion in EndoC-βH1 cells and knock‑in of p.Val59Glu variant in iPSC-derived β cells sensitized β cells to ER stress. The p.Val59Glu variant impaired proinsulin trafficking to the Golgi and induced iPSC-β cell dysfunction. \nSources: Literature",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:26:13.052728+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.146",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TMEM167A was added\ngene: TMEM167A was added to Monogenic Diabetes. Sources: Literature\nMode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM167A were set to PMID: 40924476\nPhenotypes for gene: TMEM167A were set to Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related\nReview for gene: TMEM167A was set to GREEN\nAdded comment: 6 individuals from 6 unrelated families (4/6 consanguineous) presenting with neonatal diabetes onset <4mths (6/6), severe microcephaly (6/6), epilepsy (5/6), and developmental delay (4/6). \r\n\r\nWhole genome sequencing identified biallelic variants in TMEM167A gene. Variants were homozygous in 5/6 families, and variant types were missense (4), frameshift (1), and splice (1), and all variants were rare/unreported in gnomAD. Segregation studies not reported in paper. \r\n\r\nMicrocephaly, epilepsy and diabetes syndrome has 2 known associated genes (IER3IP1 and YIPF5) which encode proteins involved in endoplasmic reticulum to Golgi trafficking. TMEM167A is highly expressed in developing and adult human pancreas and brain. Both TMEM167A depletion in EndoC-βH1 cells and knock‑in of p.Val59Glu variant in iPSC-derived β cells sensitized β cells to ER stress. The p.Val59Glu variant impaired proinsulin trafficking to the Golgi and induced iPSC-β cell dysfunction. \nSources: Literature",
"entity_name": "TMEM167A",
"entity_type": "gene"
},
{
"created": "2025-09-22T08:01:40.947066+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BAIAP3 was added\ngene: BAIAP3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: BAIAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BAIAP3 were set to PMID: 40943168\nPhenotypes for gene: BAIAP3 were set to Retinitis pigmentosa MONDO:0019200, BAIAP3-related\nReview for gene: BAIAP3 was set to RED\nAdded comment: 1 individual with retinitis pigmentosa with onset at 18yrs. Trio WGS identified biallelic missense variants in BAIAP3 gene (c.556C>G [p.Arg186Gly] and c.3099C>G [p.His1033Gln]). Both variants were very rare in gnomAD, and the healthy brother was heterozygous for one variant. \r\n\r\nBAIAP3 interacts with SNARE proteins, whose function is essential for endosome-mediated retrograde trafficking. Single-cell RNA sequencing\r\nprofiling showed enhanced expression of the BAIAP3 gene in ciliated cells, astrocytes, excitatory and inhibitory neurons, and enteroendocrine cells.\r\n\r\nConfocal microscopy analysis showed elongated cilia in patient-derived and BAIAP3-depleted fibroblasts compared to control cells. \nSources: Literature",
"entity_name": "BAIAP3",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:57:51.620295+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QRSL1 were changed from Combined oxidative phosphorylation deficiency 40 to Combined oxidative phosphorylation deficiency 40 MIM#618835",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:57:22.194716+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: QRSL1: Changed phenotypes: Combined oxidative phosphorylation deficiency 40 MIM#618835",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:57:06.069236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QRSL1 were changed from Combined oxidative phosphorylation deficiency 40 to Combined oxidative phosphorylation deficiency 40 MIM#618835",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:56:28.254346+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB11A were set to 29100083",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:56:08.553896+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB11A were changed from Intellectual disability; seizures to Neurodevelopmental disorder MONDO:0700092, RAB11A-related",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:55:40.769464+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAB11A: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, RAB11A-related",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:55:25.353541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB11A were changed from Intellectual disability; seizures to Neurodevelopmental disorder MONDO:0700092, RAB11A-related",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:54:44.871113+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CETN3 as ready",
"entity_name": "CETN3",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:54:44.857147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cetn3 has been classified as Red List (Low Evidence).",
"entity_name": "CETN3",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:54:38.772859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CETN3 as Red List (low evidence)",
"entity_name": "CETN3",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:54:38.765907+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cetn3 has been classified as Red List (Low Evidence).",
"entity_name": "CETN3",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:54:21.201609+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CETN3 as ready",
"entity_name": "CETN3",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:54:21.194531+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cetn3 has been classified as Red List (Low Evidence).",
"entity_name": "CETN3",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:54:17.371682+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CETN3 as Red List (low evidence)",
"entity_name": "CETN3",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:54:17.364376+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cetn3 has been classified as Red List (Low Evidence).",
"entity_name": "CETN3",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:52:54.473792+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYGM were changed from McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant to McArdle disease, MIM# 232600; Disorder of glycogen metabolism MONDO:0002412, PYGM-related, AD",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:52:26.119308+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PYGM: Changed phenotypes: McArdle disease, MIM# 232600, Disorder of glycogen metabolism MONDO:0002412, PYGM-related, AD",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:52:03.769143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYGM were changed from McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant to McArdle disease, MIM# 232600; Disorder of glycogen metabolism MONDO:0002412, PYGM-related, AD",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:51:17.722554+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF865 as ready",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:51:17.716233+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf865 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:51:12.478182+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF865 as Amber List (moderate evidence)",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:51:12.471578+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf865 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:50:49.878633+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF865: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ZNF865‑associated neurodevelopmental disorder MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:50:26.155930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF865 as ready",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:50:26.149071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf865 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:50:01.845828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF865 as Amber List (moderate evidence)",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:50:01.837503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf865 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:49:47.480782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF865: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ZNF865‑associated neurodevelopmental disorder MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:45:18.817087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPRC were changed from Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Hepatitis C virus, susceptibility to MIM# 609532 to Immunodeficiency 105, severe combined MIM#619924; Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Hepatitis C virus, susceptibility to MIM# 609532",
"entity_name": "PTPRC",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:44:42.131886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN22 were changed from to Autoimmune disease MONDO:0007179, PTPN22-related",
"entity_name": "PTPN22",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:44:10.921247+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPA were changed from Intellectual disability, MONDO: 36073231, PTPA-related; Parkisonism to Intellectual disability, MONDO: 36073231, PTPA-related; Parkinson disease MONDO:0005180, PTPA-related",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:43:40.766700+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTPA: Changed phenotypes: Intellectual disability, MONDO: 36073231, PTPA-related, Parkinson disease MONDO:0005180, PTPA-related",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:43:16.009834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPA were changed from Intellectual disability, MONDO: 36073231, PTPA-related to Intellectual disability, MONDO: 36073231, PTPA-related; Parkinson disease MONDO:0005180, PTPA-related",
"entity_name": "PTPA",
"entity_type": "gene"
}
]
}