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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=148",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=146",
"results": [
{
"created": "2025-10-17T12:11:09.803237+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAP as Red List (low evidence)",
"entity_name": "FAP",
"entity_type": "gene"
},
{
"created": "2025-10-17T12:11:09.796430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fap has been classified as Red List (Low Evidence).",
"entity_name": "FAP",
"entity_type": "gene"
},
{
"created": "2025-10-17T12:10:07.058271+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBX1 as ready",
"entity_name": "DBX1",
"entity_type": "gene"
},
{
"created": "2025-10-17T12:10:07.048162+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbx1 has been classified as Red List (Low Evidence).",
"entity_name": "DBX1",
"entity_type": "gene"
},
{
"created": "2025-10-17T12:09:59.907981+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DBX1 was added\ngene: DBX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DBX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBX1 were set to 40995053\nPhenotypes for gene: DBX1 were set to central hypoventilation syndrome, congenital MONDO:0800031\nReview for gene: DBX1 was set to RED\nAdded comment: Single individual reported with congenital central hypoventilation syndrome (atypical CCHS) with central hypotonia, global developmental delay, seizures, autoaggressive behaviour. Consanguineous parents, hmz frameshift variant c.340_341delGC, absent from gnomAD.\r\nMouse Dbx1 knockout is lethal indicating essential role in respiration. \nSources: Literature",
"entity_name": "DBX1",
"entity_type": "gene"
},
{
"created": "2025-10-17T12:07:36.849732+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBX1 as ready",
"entity_name": "DBX1",
"entity_type": "gene"
},
{
"created": "2025-10-17T12:07:36.839476+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbx1 has been classified as Red List (Low Evidence).",
"entity_name": "DBX1",
"entity_type": "gene"
},
{
"created": "2025-10-17T12:02:26.224286+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DBX1 was added\ngene: DBX1 was added to Central Hypoventilation. Sources: Literature\nMode of inheritance for gene: DBX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBX1 were set to 40995053\nPhenotypes for gene: DBX1 were set to central hypoventilation syndrome, congenital MONDO:0800031\nReview for gene: DBX1 was set to RED\nAdded comment: Single individual reported with congenital central hypoventilation syndrome (atypical CCHS) with central hypotonia, global developmental delay, seizures, autoaggressive behaviour. Consanguineous parents, hmz frameshift variant c.340_341delGC, absent from gnomAD.\r\nMouse Dbx1 knockout is lethal indicating essential role in respiration. \nSources: Literature",
"entity_name": "DBX1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:58:41.078858+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFXL1 as ready",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:58:41.070892+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfxl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:57:58.756939+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFXL1 as Amber List (moderate evidence)",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:57:58.747126+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfxl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:56:22.169052+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFXL1 was added\ngene: NFXL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NFXL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFXL1 were set to 40430072; 41024252\nPhenotypes for gene: NFXL1 were set to Syndromic disease (MONDO:0002254), NFXL1-related\nReview for gene: NFXL1 was set to AMBER\nAdded comment: PMID: 40430072 2 siblings with psychosis and schizophrenia, homozygous for Cys441Tyr. Some modelling suggested a deleterious affect but no functional studies performed.\r\n\r\nPMID: 41024252 8 patients from 7 families with joint hyperlaxity, with or without short stature and renal disease. 6 families were homozygous for p.(Cys539Trpfs*64) while the other two were homozygous for p.(Lys681*). Paper described both as founder variants but they are rare/absent in gnomad.\r\n\r\nJoint hyperlaxity (7), chronic kidney disease/FSGS (2) small echogenic kidneys (3), acute kidney injury (1), dysmorphic features (6), short stature (6), speech delay (3).\r\n\r\nOne patient also had epilepsy, developmental delay and spasticity however c.728+1G>A in WDR45 explained this part of her phenotype. Other patients also had more severe outlying symptoms with no other explanation mentioned: 1 with developmental delay, hearing loss, brain malformations, skeletal abnormalities, and another a 3 year old who passed away following a complex medical course including blue sclera, proximal tibial fracture, severe respiratory distress due to a chest infection, and acute kidney injury.\r\n\r\nAmber given the variable phenotype findings of the reported patients and only 2 homozygous variants identified so far. \r\n\r\nExtent of associated DD/ID currently unclear but adding on this panel as it is often ordered in children with multi-system features suggestive of an underlying syndrome. \nSources: Literature",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:54:20.431871+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFXL1 as ready",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:54:20.418669+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfxl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:54:16.866524+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFXL1 as Amber List (moderate evidence)",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:54:16.855971+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfxl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:53:30.773378+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFXL1 was added\ngene: NFXL1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: NFXL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFXL1 were set to 40430072; 41024252\nPhenotypes for gene: NFXL1 were set to Syndromic disease (MONDO:0002254), NFXL1-related\nReview for gene: NFXL1 was set to AMBER\nAdded comment: PMID: 40430072 2 siblings with psychosis and schizophrenia, homozygous for Cys441Tyr. Some modelling suggested a deleterious affect but no functional studies performed.\r\n\r\nPMID: 41024252 8 patients from 7 families with joint hyperlaxity, with or without short stature and renal disease. 6 families were homozygous for p.(Cys539Trpfs*64) while the other two were homozygous for p.(Lys681*). Paper described both as founder variants but they are rare/absent in gnomad.\r\n\r\nJoint hyperlaxity (7), chronic kidney disease/FSGS (2) small echogenic kidneys (3), acute kidney injury (1), dysmorphic features (6), short stature (6), speech delay (3).\r\n\r\nOne patient also had epilepsy, developmental delay and spasticity however c.728+1G>A in WDR45 explained this part of her phenotype. Other patients also had more severe outlying symptoms with no other explanation mentioned: 1 with developmental delay, hearing loss, brain malformations, skeletal abnormalities, and another a 3 year old who passed away following a complex medical course including blue sclera, proximal tibial fracture, severe respiratory distress due to a chest infection, and acute kidney injury.\r\n\r\nAmber given the variable phenotype findings of the reported patients and only 2 homozygous variants identified so far. Kidney phenotype not entirely clear but likely to be within syndromic CAKUT spectrum. \nSources: Literature",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:52:30.643774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFXL1 as ready",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:52:30.635559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfxl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:52:11.464976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFXL1 as Amber List (moderate evidence)",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:52:11.455047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfxl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFXL1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:48:00.389423+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZSWIM7 as ready",
"entity_name": "ZSWIM7",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:48:00.379420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim7 has been classified as Green List (High Evidence).",
"entity_name": "ZSWIM7",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:47:53.464938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZSWIM7 as Green List (high evidence)",
"entity_name": "ZSWIM7",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:47:53.458193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim7 has been classified as Green List (High Evidence).",
"entity_name": "ZSWIM7",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:47:37.469670+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZSWIM7 as ready",
"entity_name": "ZSWIM7",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:47:37.459384+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim7 has been classified as Green List (High Evidence).",
"entity_name": "ZSWIM7",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:47:29.378706+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZSWIM7 as Green List (high evidence)",
"entity_name": "ZSWIM7",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:47:29.367876+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim7 has been classified as Green List (High Evidence).",
"entity_name": "ZSWIM7",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:46:13.458095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTBP2 as ready",
"entity_name": "PTBP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:46:13.449954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTBP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:46:04.580119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTBP2 as Amber List (moderate evidence)",
"entity_name": "PTBP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:46:04.572545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTBP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:45:45.984546+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTBP2 as ready",
"entity_name": "PTBP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:45:45.972462+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTBP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:45:35.625078+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTBP2 as Amber List (moderate evidence)",
"entity_name": "PTBP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:45:35.613848+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTBP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:44:12.149216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLK15 as ready",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:44:12.139125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk15 has been classified as Red List (Low Evidence).",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:44:01.336512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLK15 as Red List (low evidence)",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:44:01.326777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk15 has been classified as Red List (Low Evidence).",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:43:49.029239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLK15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:43:32.880068+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLK15 as ready",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:43:32.872761+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk15 has been classified as Red List (Low Evidence).",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:43:29.379547+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLK15 as Red List (low evidence)",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:43:29.371994+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk15 has been classified as Red List (Low Evidence).",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:43:03.233927+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLK15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:41:04.951217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INCENP as ready",
"entity_name": "INCENP",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:41:04.944741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: incenp has been classified as Amber List (Moderate Evidence).",
"entity_name": "INCENP",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:40:58.210801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INCENP as Amber List (moderate evidence)",
"entity_name": "INCENP",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:40:58.193991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: incenp has been classified as Amber List (Moderate Evidence).",
"entity_name": "INCENP",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:40:41.846486+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INCENP as ready",
"entity_name": "INCENP",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:40:41.838173+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: incenp has been classified as Amber List (Moderate Evidence).",
"entity_name": "INCENP",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:40:38.513776+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INCENP as Amber List (moderate evidence)",
"entity_name": "INCENP",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:40:38.506187+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: incenp has been classified as Amber List (Moderate Evidence).",
"entity_name": "INCENP",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:40:01.703791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSTZ1 as ready",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:40:01.693062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gstz1 has been classified as Green List (High Evidence).",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:39:54.145568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSTZ1 as Green List (high evidence)",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:39:54.137946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gstz1 has been classified as Green List (High Evidence).",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:39:09.561294+11:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSTZ1 were set to 27876694",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:38:52.096598+11:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSTZ1 as Green List (high evidence)",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:38:52.086203+11:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gstz1 has been classified as Green List (High Evidence).",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:38:01.233386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSIP2 as ready",
"entity_name": "FSIP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:38:01.222230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fsip2 has been classified as Green List (High Evidence).",
"entity_name": "FSIP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:37:53.704412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FSIP2 as Green List (high evidence)",
"entity_name": "FSIP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:37:53.693862+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fsip2 has been classified as Green List (High Evidence).",
"entity_name": "FSIP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:37:38.297062+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSIP2 as ready",
"entity_name": "FSIP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:37:38.284240+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fsip2 has been classified as Green List (High Evidence).",
"entity_name": "FSIP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:37:29.834196+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FSIP2 as Green List (high evidence)",
"entity_name": "FSIP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:37:29.823393+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fsip2 has been classified as Green List (High Evidence).",
"entity_name": "FSIP2",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:37:09.541668+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK9 as ready",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:37:09.531223+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk9 has been classified as Green List (High Evidence).",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:37:06.564117+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK9 as Green List (high evidence)",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:37:06.556208+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk9 has been classified as Green List (High Evidence).",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:36:59.109231+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK9 was added\ngene: CDK9 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK9 were set to 40954203; 33640901; 30237576; 26633546\nPhenotypes for gene: CDK9 were set to multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; CHARGE-like syndrome with retinal dystrophy\nReview for gene: CDK9 was set to GREEN\nAdded comment: Biallelic variants in at least six families, though 4 may be related:\r\n1) proband that displays retinal dystrophy without a CHARGE-like malformation syndrome (c.862G>A/p.A288T + c.961C>T/p.P321S).\r\n2) A boy with a phenotype resembling CHARGE syndrome (multiple anomalies involving the eyes, ears, cleft lip, and palate, and intellectual disability) with retinal dystrophy (p.A288T/p.R303C),\r\n3-7) 4 consanguineous families homozygous for p.R225C, including a set of cousins.\r\nCDK9 variants demonstrated decreased kinase activity. One of the studies suggested the extent the kinase activity is reduced may account for the absence/presence of the CHARGE-like phenotype with retinal dystrophy \nSources: Literature",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:35:48.999903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK9 as ready",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:35:48.991873+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:35:19.089224+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK9 as Amber List (moderate evidence)",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:35:19.078487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:35:09.783727+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK9 was added\ngene: CDK9 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK9 were set to 33640901; 30237576; 26633546\nPhenotypes for gene: CDK9 were set to multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; CHARGE-like syndrome with retinal dystrophy\nReview for gene: CDK9 was set to AMBER\nAdded comment: Two independent reports of relevance to this panel:\r\n1) A boy with a phenotype resembling CHARGE syndrome (multiple anomalies involving the eyes, ears, cleft lip, and palate, and intellectual disability) with retinal dystrophy (p.A288T/p.R303C),\r\n2) 4 consanguineous families homozygous for p.R225C, including a set of cousins. CDK9 variants demonstrated decreased kinase activity. One of the studies suggested the extent the kinase activity is reduced may account for the absence/presence of the CHARGE-like phenotype with retinal dystrophy.\r\n\r\nOne additional family with retinal dystrophy only. \nSources: Literature",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:33:47.378748+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK9 as ready",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:33:47.371600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:33:39.836318+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK9 as Amber List (moderate evidence)",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:33:39.825368+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:32:02.005822+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK9 was added\ngene: CDK9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK9 were set to 33640901; 30237576; 26633546\nPhenotypes for gene: CDK9 were set to multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; CHARGE-like syndrome with retinal dystrophy\nReview for gene: CDK9 was set to AMBER\nAdded comment: Two independent reports:\r\n1) A boy with a phenotype resembling CHARGE syndrome (multiple anomalies involving the eyes, ears, cleft lip, and palate, and intellectual disability) with retinal dystrophy (p.A288T/p.R303C),\r\n2) 4 consanguineous families homozygous for p.R225C, including a set of cousins.\r\nCDK9 variants demonstrated decreased kinase activity. One of the studies suggested the extent the kinase activity is reduced may account for the absence/presence of the CHARGE-like phenotype with retinal dystrophy\r\n\r\nOne additional family with retinal dystrophy only. \nSources: Literature",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:28:24.815171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK9 as ready",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-17T11:28:24.804092+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk9 has been classified as Green List (High Evidence).",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2025-10-16T18:21:12.186205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3407",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene ABCB4 were changed from 8666348; 17726488; 18482588; 28924228; 32376413; 9419367; 26474921; 32793533; 11313315 to 8666348; 17726488; 18482588; 28924228; 32376413; 9419367; 26474921; 32793533; 11313315",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2025-10-16T18:19:57.768204+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3406",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ABCB4.\nPhenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Gallbladder disease 1 (MIM#600803) to Progressive familial intrahepatic cholestasis type 3, MONDO:0011214; Cholestasis, intrahepatic, of pregnancy, 3 MIM#614972; disorder of bile acid metabolism; Gallbladder disease 1 (MIM#600803)",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2025-10-16T18:18:52.947946+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.56",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism to Progressive familial intrahepatic cholestasis type 3, MONDO:0011214\nPublications for gene ABCB4 were changed from 8666348, 9419367, 26474921, 32793533, 11313315 to 8666348, 9419367, 26474921, 32793533, 11313315",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2025-10-16T18:18:31.448427+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.28",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3, MIM#\t602347 to Progressive familial intrahepatic cholestasis type 3, MONDO:0011214\nPublications for gene ABCB4 were changed from 17726488, 9419367, 26474921, 32793533, 11313315 to 17726488, 9419367, 26474921, 32793533, 11313315",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2025-10-16T18:12:06.721441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3405",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ABCC8.\nSource Expert list was added to ABCC8.\nPhenotypes for gene: ABCC8 were changed from Maturity-onset diabetes of the young, type 12, MIM# 621196; Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800 to Maturity-onset diabetes of the young, type 12, MIM# 621196; Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800; Pulmonary arterial hypertension, MONDO:0015924, ABCC8-related\nPublications for gene ABCC8 were changed from 21054355, 32027066, 32376986, 30354297, 35811711, 32934261, 31727138 to 21054355, 32027066, 32376986, 30354297, 35811711, 32934261, 31727138",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2025-10-16T18:07:51.401261+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.44",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC8 were changed from Diabetes mellitus; Hypoglycaemia; Pulmonary arterial hypertension to Pulmonary arterial hypertension, MONDO:0015924, ABCC8-related\nPublications for gene ABCC8 were changed from 30354297, 35811711, 32934261, 31727138 to 30354297, 35811711, 32934261, 31727138",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:59:23.661877+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.365",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: AGTPBP1 were changed from Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 to Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650\nPublications for gene AGTPBP1 were changed from 30420557, 28600779, 30976113, 38153683, 28325758 to 30420557, 28600779, 30976113, 38153683, 28325758",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:59:23.187444+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: AGTPBP1 were changed from Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 to Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650\nPublications for gene AGTPBP1 were changed from 30420557, 28600779, 30976113, 38153683, 28325758 to 30420557, 28600779, 30976113, 38153683, 28325758",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:59:21.790572+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.588",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: AGTPBP1 were changed from Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 to Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650\nPublications for gene AGTPBP1 were changed from 30420557, 28600779, 30976113, 38153683, 28325758 to 30420557, 28600779, 30976113, 38153683, 28325758",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:59:18.320434+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.58",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: AGTPBP1 were changed from Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 to Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650\nPublications for gene AGTPBP1 were changed from 30420557, 28600779, 30976113, 38153683, 28325758 to 30420557, 28600779, 30976113, 38153683, 28325758",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:59:05.919531+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3404",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: AGTPBP1 were changed from Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 to Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650\nPublications for gene AGTPBP1 were changed from 30420557, 28600779, 30976113, 38153683, 28325758 to 30420557, 28600779, 30976113, 38153683, 28325758",
"entity_name": "AGTPBP1",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:47:38.504024+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from ATP1A3.\nSource Expert list was added to ATP1A3.\nPhenotypes for gene: ATP1A3 were changed from Polymicrogyria; epilepsy; developmental delay to ATP1A3-associated neurological disorder, MONDO:0700002\nPublications for gene ATP1A3 were changed from 33762331, 33880529, 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 33762331, 33880529, 15260953, 22842232, 24468074, 33762331, 29861155, 31425744",
"entity_name": "ATP1A3",
"entity_type": "gene"
}
]
}