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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=266",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=264",
"results": [
{
"created": "2025-04-22T17:53:34.846546+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nags has been classified as Green List (High Evidence).",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:53:31.347385+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAGS as Green List (high evidence)",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:53:31.337613+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nags has been classified as Green List (High Evidence).",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:53:24.507297+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAGS was added\ngene: NAGS was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency - MIM#237310\nReview for gene: NAGS was set to GREEN\nAdded comment: Severe deficiency typically presents in infancy but milder deficiency can present at any age. Metabolic decompensation can be triggered by intercurrent illness, fasting, protein loading, pregnancy/delivery. Hyperammonaemic encephalopathy is associated with high mortality rates.\r\n\r\nThe American College of Medical Genetics and Genomics (ACMG) has developed an ACT sheet to help clinical decision-making during transition to adult health care: https://www.acmg.net/PDFLibrary/Nags-Deficiency-Transition.pdf.\r\n\r\nThe mainstay of long-term management of NAGSD is treatment with carbamylglutamate (also called carglumic acid or N-carbamyl-L-glutamate), an oral NAGS analogue. Given the risk of acute metabolic decompensation during surgery and general anesthesia, elective surgery should only be carried out in centers able and prepared to deal with hyperammonaemic decompensations. Pregnancies should be managed as high risk. Steroids and valproic acid to be avoided. \nSources: Expert list",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:46:15.977431+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPCAM as ready",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:46:15.971118+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epcam has been classified as Green List (High Evidence).",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:46:13.067941+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPCAM as Green List (high evidence)",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:46:13.061088+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epcam has been classified as Green List (High Evidence).",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:46:06.336022+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPCAM was added\ngene: EPCAM was added to Additional findings_Adult. Sources: Expert list\nSV/CNV tags were added to gene: EPCAM.\nMode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EPCAM were set to Lynch syndrome 8, MONDO:0013196\nMode of pathogenicity for gene: EPCAM was set to Other\nReview for gene: EPCAM was set to GREEN\nAdded comment: DEFINITIVE actionability by ClinGen in adults.\r\n\r\nDeletion of 3’end of EPCAM gene leading to epigenetic silencing of adjacent downstream MSH2 gene. \nSources: Expert list",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:42:17.906056+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FH as ready",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:42:17.899718+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fh has been classified as Green List (High Evidence).",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:42:14.739468+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FH as Green List (high evidence)",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:42:14.726420+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fh has been classified as Green List (High Evidence).",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:42:08.041917+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FH was added\ngene: FH was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FH were set to Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888\nReview for gene: FH was set to GREEN\nAdded comment: STRONG actionability in adults by ClinGen.\r\n\r\nReferral to cancer genetics service for surveillance for skin, gynaecological and renal manifestations, notably renal cancers. \nSources: Expert list",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:36:11.269092+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBS as ready",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:36:11.263142+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:36:08.186110+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CBS as Green List (high evidence)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:36:08.179059+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-04-22T17:36:00.190555+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBS was added\ngene: CBS was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200\nReview for gene: CBS was set to GREEN\nAdded comment: MODERATE actionability in adults by ClinGen.\r\n\r\nProgressive disorder with variable range of onset of clinical manifestations, including adult presentations. Diagnosis can be delayed. Thromboembolism is the major cause of disability and death. Pregnancy and postpartum period present heightened risk. The aim of treatment is to prevent all complications (early and late) by controlling the elevated total plasma homocysteine (tHcy) concentrations by using one or a combination of treatments. This includes assessment of whether the disorder is pyridoxine-responsive and dietary measures. Betaine and anti-coagulants can be used as adjunct treatments.\r\n\r\nFor pathogenic variants commonly present in the homozygous state, there are a few well established genotype-phenotype correlations with good concordance between pyridoxine responsiveness and a milder clinical phenotype. For example, one of the most the common variants, c.833T>C (p.I278T), is pan ethnic, accounts for nearly 24% of all pathogenic variants, and when homozygous leads to a mild pyridoxine-responsive type of CBS deficiency. \nSources: Expert list",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:07:32.062320+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1896",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SLC37A4 as ready",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:07:32.052996+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1896",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:07:29.359400+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1896",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, 232220 (3) to Glycogen storage disease Ib MIM#232220; Glycogen storage disease Ic MIM#232240; Glycogen Storage Disease I MONDO:0002413",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:06:49.118880+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1895",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SP110 as ready",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:06:49.109846+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1895",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: sp110 has been classified as Green List (High Evidence).",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:06:46.115733+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1895",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SP110 were set to ",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:06:14.555344+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1894",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:06:14.547732+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1894",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:06:11.813775+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1894",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:05:59.116341+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1893",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SPR were set to ",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:05:22.294535+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1892",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: STRA6 as ready",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:05:22.287980+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1892",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: stra6 has been classified as Green List (High Evidence).",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:05:19.855282+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1892",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: STRA6 were changed from Microphthalmia MIM#601186 to Microphthalmia, isolated, with coloboma 8 MIM#601186; Microphthalmia, syndromic 9 MIM#601186",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:05:09.374084+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1891",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: STRA6 were changed from Microphthalmia, isolated, with coloboma 8, 601186 (3) to Microphthalmia MIM#601186",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:04:48.090054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2479",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: B3GALT6: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008674; Phenotypes: B3GALT6-congenital disorder of glycosylation MONDO:0100586; Mode of inheritance: None",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:04:19.603301+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1890",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: STRA6 were set to ",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:03:40.943587+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1889",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TRIM32 as ready",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:03:40.933622+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1889",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: trim32 has been classified as Green List (High Evidence).",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:03:38.256576+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1889",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM32 were changed from Muscular dystrophy, limb-girdle, type 2H, 254110 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:02:57.370789+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1888",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TRIM32 were set to ",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:02:14.442670+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1887",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TRPM6 as ready",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:02:14.435853+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1887",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: trpm6 has been classified as Green List (High Evidence).",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:02:09.369143+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1887",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TRPM6 were set to ",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:01:35.309375+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1886",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TTI2 as ready",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:01:35.302521+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1886",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: tti2 has been classified as Green List (High Evidence).",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:01:31.868295+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1886",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: TTI2 were changed from Mental retardation, autosomal recessive 39, 615541 (3) to Intellectual developmental disorder, autosomal recessive 39 MIM#615541",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:01:30.190479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2479",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008779; Phenotypes: ataxia with oculomotor apraxia type 3 MONDO:0014084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIK3R5",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:01:20.313486+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1885",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TTI2 were set to ",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:00:47.275098+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1884",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TTPA as ready",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:00:47.268088+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1884",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ttpa has been classified as Green List (High Evidence).",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:00:44.129337+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1884",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TTPA were set to ",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:00:08.947643+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1883",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: VARS as ready",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:00:08.941173+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1883",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: vars has been classified as Green List (High Evidence).",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2025-04-22T15:00:05.494205+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1883",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: VARS were changed from Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MIM#617802",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:59:50.167099+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1882",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: VARS were set to ",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:59:44.489721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2479",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PCNA was added\ngene: PCNA was added to Mendeliome. Sources: ClinGen\nMode of inheritance for gene: PCNA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCNA were set to 24911150, 33426167, 36990216\nPhenotypes for gene: PCNA were set to hereditary ataxia MONDO:0100309\nReview for gene: PCNA was set to AMBER\nAdded comment: Classified as Limited by Cerebellar Ataxia GCEP on 09/04/2025 - https://search.clinicalgenome.org/CCID:008778\r\n\r\nTwo missense variants have been reported across 5 families. Both the missense variants are present in gnomAD (rare enough for AR gene). Method of pathogenicity is still unknown.\r\nAffected individuals reported with ataxia, photosensitivity, telangiectasias, and some degree of intellectual disability. \nSources: ClinGen",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:59:15.070398+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1881",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: WNT10B as ready",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:59:15.056951+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1881",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: wnt10b has been classified as Green List (High Evidence).",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:59:12.343207+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1881",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: WNT10B were set to ",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:58:38.506820+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1880",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CSPP1 as ready",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:58:38.497481+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1880",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cspp1 has been classified as Green List (High Evidence).",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:58:35.827995+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1880",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, 615636 (3) to Joubert syndrome 21 MIM#615636; MONDO:0014288",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:58:27.046587+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1879",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CSPP1 were set to ",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:57:56.431880+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1878",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: DNAH5 as ready",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:57:56.423806+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1878",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dnah5 has been classified as Green List (High Evidence).",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:57:53.539867+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1878",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: DNAH5 were set to ",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:57:23.902319+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1877",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PEX5 as ready",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:57:23.896325+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1877",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: pex5 has been classified as Green List (High Evidence).",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:57:21.080391+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1877",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: PEX5 were changed from Peroxisome biogenesis disorder 2A (Zellweger), 214110 to Peroxisome Biogenesis Disorder, MONDO:0019234",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:57:10.631896+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1876",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PEX5 were set to 21031596; 7719337; 26220973; 20301621",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:57:09.407310+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1875",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PEX5 were set to ",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:56:37.193296+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1874",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PIGN as ready",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:56:37.185802+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1874",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: pign has been classified as Green List (High Evidence).",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:56:31.806880+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1874",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PIGN were set to ",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:55:42.760134+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1873",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PLAA as ready",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:55:42.749420+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1873",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: plaa has been classified as Green List (High Evidence).",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:55:40.431507+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1873",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: PLAA were changed from Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies,MIM#617527",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:55:27.280979+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1872",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PLAA were set to ",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:54:51.366828+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1871",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PLCE1 as ready",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:54:51.357239+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1871",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: plce1 has been classified as Green List (High Evidence).",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:54:46.307732+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1871",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PLCE1 were set to ",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:54:14.455639+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1870",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: POLR3B as ready",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:54:14.449340+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1870",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: polr3b has been classified as Green List (High Evidence).",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:53:52.738119+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1870",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: POLR3B was changed from to None",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:53:24.349377+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1869",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: POLR3B were set to ",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:44:11.108981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2479",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ANKZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008790; Phenotypes: inflammatory bowel disease MONDO:0005265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:43:24.602393+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.124",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ANKZF1: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008790; Phenotypes: inflammatory bowel disease MONDO:0005265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:28:48.398797+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.137",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SIRT1 was added\ngene: SIRT1 was added to Monogenic Diabetes. Sources: ClinGen\nMode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SIRT1 were set to https://search.clinicalgenome.org/CCID:008794\nPhenotypes for gene: SIRT1 were set to monogenic diabetes MONDO:0015967\nReview for gene: SIRT1 was set to RED\nAdded comment: Classified as LIMITED by Monogenic Diabetes GCEP on 18/04/2025 - https://search.clinicalgenome.org/CCID:008794 \nSources: ClinGen",
"entity_name": "SIRT1",
"entity_type": "gene"
},
{
"created": "2025-04-22T14:27:07.177431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2479",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SIRT1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008794; Phenotypes: monogenic diabetes MONDO:0015967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIRT1",
"entity_type": "gene"
},
{
"created": "2025-04-22T12:51:41.514948+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added Panel Genomic newborn screening: ICoNS",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-04-22T12:50:52.320546+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from BabyScreen+ newborn screening to Genomic newborn screening: BabyScreen+",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-04-21T16:12:07.171532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2479",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2025-04-21T14:21:34.325904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2478",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGFR1 were set to 18034870; 23812909; 26942290; 16470795; 15625620; 29147600; 20339250",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2025-04-21T14:16:40.056564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2477",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGFR1 were set to 18034870; 23812909; 26942290",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2025-04-20T18:42:43.124765+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: PANX1 was added\ngene: PANX1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PANX1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: PANX1 were set to 30918116; 39232764; 35834089; 36469255; 33495594\nPhenotypes for gene: PANX1 were set to Oocyte/zygote/embryo maturation arrest 7, MIM# 618550\nReview for gene: PANX1 was set to GREEN\nAdded comment: Literature in OMIM- PMID: 30918116: 4 different monoallelic variants in 4 unrelated Chinese families with 8 women who were infertile due to oocyte death. Functional analysis demonstrated that the mutations alter the PANX1 glycosylation pattern, influence subcellular localization, and increase channel activity and ATP release.\r\n\r\nNew papers- \r\ni) PMID: 39232764;35834089;36469255- 3 novel monoallelic variants (p.Ser137Leu,p. Arg29Gln, p.Asn326del) causing human oocyte death and female infertility. Western blot analysis confirmed that Arg29Gln and p.Asn326del changed the glycosylation pattern in HeLa cells.\r\n\r\nii) PMID: 33495594- two novel homozygous missense variants associated with the oocyte death phenotype in two families. Both of the homozygous variants altered the PANX1 glycosylation pattern in cultured cells, led to aberrant PANX1 channel activation, and resulted in mouse oocyte death after fertilization in vitro. It is worth noting that the destructive effect of the two homozygous variants on PANX1 function was weaker than that caused by the recently reported heterozygous variants. \nSources: Literature",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2025-04-20T18:36:52.101350+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: TRIP13 was added\ngene: TRIP13 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIP13 were set to 32473092; 28553959; 35812326\nPhenotypes for gene: TRIP13 were set to Oocyte/zygote/embryo maturation arrest 9, #MIM 619011; Mosaic variegated aneuploidy syndrome 3, #MIM 617598\nReview for gene: TRIP13 was set to GREEN\nAdded comment: Literature in OMIM- PMID: 32473092;28553959- different biallelic variants in >3 unrelated affected individuals\r\n\r\nNew papers: \r\ni) PMID: 35812326- Two women with zygotic cleavage failure (ZCF) carrying homozygous p. Glu381Lys and compound heterozygous p. Lys420Glu and p. His26Arg. All three variants resulted in obvious changes in hydrogen bonding and consistent increase in DNA damage. Additionally, transcriptomic sequencing of oocytes and arrested embryos containing these variants suggested a greater number of differentially expressed transcripts in germinal vesicle (GV) oocytes than in 1-cell embryos. \nSources: Literature",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2025-04-20T18:31:16.198233+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FBXO43 was added\ngene: FBXO43 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FBXO43 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXO43 were set to 34052850; 30878252; 34595750\nPhenotypes for gene: FBXO43 were set to Oocyte/zygote/embryo maturation arrest 12, MIM# 619697; Spermatogenic failure 64, MIM# 619696\nReview for gene: FBXO43 was set to GREEN\nAdded comment: Literature in OMIM: PMID: 34052850 (three different homozygous variants in 3 unrelated women; 30878252, 34595750 (two different families with different homozygous variants) \nSources: Literature",
"entity_name": "FBXO43",
"entity_type": "gene"
},
{
"created": "2025-04-20T18:27:40.421367+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FGA was added\ngene: FGA was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGA were set to 29016666; 34925444\nPhenotypes for gene: FGA were set to Recurrent pregnancy loss\nReview for gene: FGA was set to GREEN\nAdded comment: i) PMID: 29016666- A heterozygous missense p.Phe685Cys called pathogenic in a female with RPL (3 miscarriages, all embryonic loss) and fragment molecular orbital analysis showed that the p.F685C variant led to changes in total interaction energy, thus leading to protein instability\r\n\r\nii) PMID: 34925444: Two heterozygous FGA variants were identified in two women, each with three consecutive miscarriages- one variant (NM_000508.5: c.1906_1908del; p.636del) leading to the deletion of an amino acid was not found in public databases. The other variant in FGA (p.A762V) causing an amino acid substitution was extremely rare in East Asian populations in the gnomAD database and was predicted to be deleterious by in silico prediction tools. \r\n- \" Mutations of FGA have been linked to coagulation pathologies including afibrinogenemia (OMIM:202400) and dysfibrinogenemia/hypodysfibrinogenemia (OMIM:616004), which can result in miscarriage (PMID: 31368232). \nSources: Literature",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2025-04-20T17:51:07.895092+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Biallelic variants have been reported for several unrelated families with recurrent complete hydatidiform mole (CHM) pregnancy- predominantly biparental and RPL- PMID: 21885028, 19246479, 23232697.\r\n\r\nNew evidence- \r\ni) PMID 31847873: homozygous LOF variant in a woman with multiple consanguineous marriages in her extended family and history of 2 biparental complete hydatidiform mole (BiCHM) and methylation study on her oocytes revealed a genome-wide deficit of DNA methylation compared with normal human oocytes.\r\n\r\nii) PMID: 31609975- two deletions of KHDC3L (p.E150_V160del and p.E150_V172del) in female RPL patients, both of which harbor a common loss of Thr156 and are impaired in PARP1 activation and homologous recombination (HR) repair. Also provided functional evidence that KHDC3L dysfunction causes PARP1 inhibition and HR-mediated DNA repair deficiency, which is synthetically lethal.\r\n\r\niii) PMID: 29606347- a novel homozygous frameshift p.Q15Rfs*25 variant in a female patient (II-1) from family 4 with a history of 2 spontaneous abortions and x2 partial hydatidiform moles, and her embryos formed after ICSI are fertilized normally but arrest at the morula stage. \nSources: Literature; to: Biallelic variants have been reported for several unrelated families with recurrent complete hydatidiform mole (CHM) pregnancy- predominantly biparental and RPL- PMID: 21885028, 19246479, 23232697.\r\n\r\nNew evidence (biallelic variants and CHM pregnancy)- \r\ni) PMID 31847873: homozygous LOF variant in a woman with multiple consanguineous marriages in her extended family and history of 2 biparental complete hydatidiform mole (BiCHM) and methylation study on her oocytes revealed a genome-wide deficit of DNA methylation compared with normal human oocytes.\r\n\r\nii) PMID: 31609975- two deletions of KHDC3L (p.E150_V160del and p.E150_V172del) in female RPL patients, both of which harbor a common loss of Thr156 and are impaired in PARP1 activation and homologous recombination (HR) repair. Also provided functional evidence that KHDC3L dysfunction causes PARP1 inhibition and HR-mediated DNA repair deficiency, which is synthetically lethal.\r\n\r\niii) PMID: 29606347- a novel homozygous frameshift p.Q15Rfs*25 variant in a female patient (II-1) from family 4 with a history of 2 spontaneous abortions and x2 partial hydatidiform moles, and her embryos formed after ICSI are fertilized normally but arrest at the morula stage. \r\n\r\nNew evidence (monoallelic variants and RPL)- \r\ni) PMID: 34925444- a heterozygous in frame deletion in KHDC3L (p.146_156del) in a 31-year-old woman with a history of two miscarriages.\r\nii) PMID: 31609975- heterozygous deletions (p.150_160del and p.150_172del) were found in patients experiencing RPL without forming an hydatidiform mole. \r\nNote: All of the deletions in patients with RPL affected the Thr156 residue, a critical phosphorylation site for normal KHDC3L protein function. Loss of Thr156 results in impaired PARP1 activation and HR repair.\r\nSources: Literature",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2025-04-20T17:48:41.608035+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: KHDC3L: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2025-04-20T10:04:00.094352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2476",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGF8 were set to 34433009; 32664970; 7768185; 32664970; 10603341; 19509466; 9462741; 10603341; 12223415",
"entity_name": "FGF8",
"entity_type": "gene"
}
]
}