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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=837",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=835",
"results": [
{
"created": "2022-05-17T08:30:06.872775+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 3 individuals from two unrelated families reported; mouse model recapitulates phenotype.; to: Four families and extensive functional data, including two mouse and one zebrafish model.",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2022-05-17T08:29:53.183022+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAGI2: Changed publications: 27932480, 25108225, 25271328, 31171376, 31010479",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2022-05-17T08:29:14.028192+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGI2 as ready",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2022-05-17T08:29:14.014993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magi2 has been classified as Green List (High Evidence).",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2022-05-17T08:29:05.952190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAGI2 were changed from to Nephrotic syndrome, type 15, MIM# 617609",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2022-05-17T08:28:44.614594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAGI2 were set to ",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2022-05-17T08:28:22.279864+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAGI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2022-05-17T08:28:03.417407+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27932480, 25108225, 25271328, 31171376, 31010479; Phenotypes: Nephrotic syndrome, type 15, MIM# 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2022-05-16T19:04:54.997031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO3A as ready",
"entity_name": "MYO3A",
"entity_type": "gene"
},
{
"created": "2022-05-16T19:04:54.984835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo3a has been classified as Green List (High Evidence).",
"entity_name": "MYO3A",
"entity_type": "gene"
},
{
"created": "2022-05-16T19:02:48.957271+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPHN1 as ready",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T19:02:48.947646+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ophn1 has been classified as Green List (High Evidence).",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T19:02:43.563653+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T19:02:09.586019+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPHN1 were set to ",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T19:01:35.188498+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T19:01:00.833818+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T19:00:03.143168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPHN1 as ready",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T19:00:03.108775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ophn1 has been classified as Green List (High Evidence).",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:59:53.832264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:59:32.910788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPHN1 were set to ",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:59:00.570062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:58:40.913745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OPHN1: Changed publications: 20528889, 9582072, 12807966, 16221952",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:58:21.549444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:58:15.337533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: OPHN1: OPHN1 variants cause cerebellar hypoplasia and distinctive facial appearance, macrocephaly is a feature. At least 8 families reported.",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:56:45.543694+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAH as ready",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:56:45.524326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pah has been classified as Green List (High Evidence).",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:56:37.228806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAH were changed from to Phenylketonuria MIM#261600; Disorders of phenylalanine or tyrosine metabolism",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:56:15.637518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAH were set to ",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:55:52.047706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:55:00.386310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH12 as ready",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:55:00.372086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh12 has been classified as Green List (High Evidence).",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:54:50.080652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCDH12 were changed from to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:54:28.546122+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCDH12 were set to ",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:54:08.197083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCDH12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:53:47.804319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:51:50.687540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEPD as ready",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:51:50.675526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pepd has been classified as Green List (High Evidence).",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:51:41.597847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEPD were changed from to Prolidase deficiency MIM#170100; disorders of peptide metabolism",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:51:21.046133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEPD were set to ",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:51:00.646902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:50:19.190038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX10 as ready",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:50:19.180764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex10 has been classified as Green List (High Evidence).",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:50:03.092633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX10 were changed from to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870); Peroxisome biogenesis disorder 6B (MIM#614871)",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:49:41.113646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX10 were set to ",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:49:20.424718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:44:23.124700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCK1 as ready",
"entity_name": "PCK1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:44:23.114708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pck1 has been classified as Green List (High Evidence).",
"entity_name": "PCK1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:44:11.825393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCK1 were changed from to Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680; Disorders of gluconeogenesis",
"entity_name": "PCK1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:43:50.859927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCK1 were set to ",
"entity_name": "PCK1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:43:29.912418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCK1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:40:45.975952+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QDPR as ready",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:40:45.963036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qdpr has been classified as Green List (High Evidence).",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:39:49.481051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REEP1 as ready",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:39:49.470193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reep1 has been classified as Green List (High Evidence).",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:39:40.129160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REEP1 were changed from to Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250; Charcot-Marie-Tooth; severe congenital distal SMA with diaphragmatic paralysis; congenital axonal neuropathy and diaphragmatic palsy",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:39:17.725639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: REEP1 were set to ",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:38:45.959415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: REEP1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:37:47.785248+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RLBP1 as ready",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:37:47.735415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rlbp1 has been classified as Green List (High Evidence).",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:36:44.658371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RLBP1 were changed from to Fundus albipunctatus MIM#136880; Bothnia retinal dystrophy MIM#607475",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:36:22.551529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RLBP1 were set to ",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:35:59.171388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RLBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:35:12.323612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RMND1 as ready",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:35:12.312772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rmnd1 has been classified as Green List (High Evidence).",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:35:02.507014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RMND1 were changed from to Combined oxidative phosphorylation deficiency 11 MIM#614922",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:34:29.289839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RMND1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:33:43.104180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14381",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:33:36.836920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH1 as ready",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:33:36.825769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh1 has been classified as Green List (High Evidence).",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:33:27.657455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH1 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:33:00.311016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH1 were set to ",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:32:39.465405+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH1 as ready",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:32:39.450495+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh1 has been classified as Green List (High Evidence).",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:32:36.473734+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH1 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:31:55.516575+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH1 were set to 26094573; 31258551",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:31:24.635679+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH1 were set to ",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:30:48.645105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14379",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "edited their review of gene: RBFOX2: Added comment: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS). No further patient-specific clinical or variant info were available. Same cohort later included in PMID: 32368696, listed 4 de novo variants in this gene, in patients with left ventricular outflow tract obstruction (LVOTO) or conotruncal defects (CTDs).\r\n\r\n- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.\r\n- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.\r\n\r\n- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.\r\n\r\n- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.; Changed publications: PMID: 26785492, 27670201, 27485310, 25205790, 35137168, 26785492",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:30:26.469341+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNASEH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:29:43.187399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNASEH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH1",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:27:43.131232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2A as ready",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:27:43.119468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2a has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:27:34.296028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4 MIM#610333",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:27:14.580535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2A were set to ",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:26:51.118122+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNASEH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:25:59.766842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF139 as ready",
"entity_name": "RNF139",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:25:59.757098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf139 has been classified as Red List (Low Evidence).",
"entity_name": "RNF139",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:25:50.367806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF139 were changed from to Renal cell carcinoma MIM#144700",
"entity_name": "RNF139",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:25:27.617169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNF139 were set to ",
"entity_name": "RNF139",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:23:49.279111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNF139 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RNF139",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:23:24.232185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF139 as Red List (low evidence)",
"entity_name": "RNF139",
"entity_type": "gene"
},
{
"created": "2022-05-16T18:23:24.217974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf139 has been classified as Red List (Low Evidence).",
"entity_name": "RNF139",
"entity_type": "gene"
},
{
"created": "2022-05-16T17:55:53.199961+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMC8 as ready",
"entity_name": "TMC8",
"entity_type": "gene"
},
{
"created": "2022-05-16T17:55:53.185830+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmc8 has been classified as Green List (High Evidence).",
"entity_name": "TMC8",
"entity_type": "gene"
},
{
"created": "2022-05-16T17:54:01.463979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RP1 as ready",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T17:54:01.429579+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rp1 has been classified as Green List (High Evidence).",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T17:53:33.313832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RP1 were changed from to Retinitis pigmentosa 1 MIM#180100",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T17:53:09.058409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RP1 were set to ",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T17:52:47.862251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2022-05-16T17:52:00.944632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RP2 as ready",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2022-05-16T17:52:00.935512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rp2 has been classified as Green List (High Evidence).",
"entity_name": "RP2",
"entity_type": "gene"
}
]
}