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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=212",
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"results": [
{
"created": "2025-06-10T18:17:41.351036+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNA6 as Green List (high evidence)",
"entity_name": "KCNA6",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:17:41.341811+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna6 has been classified as Green List (High Evidence).",
"entity_name": "KCNA6",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:17:17.322871+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNA6 was added\ngene: KCNA6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KCNA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNA6 were set to 36318112; 40472070\nPhenotypes for gene: KCNA6 were set to Developmental and epileptic encephalopathy, MONDO:0100620, KCNA6-related\nReview for gene: KCNA6 was set to GREEN\nAdded comment: PMID 36318112: four individuals with de novo variants in this gene and NDD/epilepsy phenotype. Supportive functional data. Additional individual in PMID 40472070 with de novo variant and epilepsy. \nSources: Literature",
"entity_name": "KCNA6",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:16:50.312533+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA6 as ready",
"entity_name": "KCNA6",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:16:50.302510+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna6 has been classified as Green List (High Evidence).",
"entity_name": "KCNA6",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:16:04.975651+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNA6 as Green List (high evidence)",
"entity_name": "KCNA6",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:16:04.968656+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna6 has been classified as Green List (High Evidence).",
"entity_name": "KCNA6",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:15:37.161228+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNA6 was added\ngene: KCNA6 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KCNA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNA6 were set to 36318112; 40472070\nPhenotypes for gene: KCNA6 were set to Developmental and epileptic encephalopathy, MONDO:0100620, KCNA6-related\nReview for gene: KCNA6 was set to GREEN\nAdded comment: PMID 36318112: four individuals with de novo variants in this gene and NDD/epilepsy phenotype. Supportive functional data. Additional individual in PMID 40472070 with de novo variant and epilepsy. \nSources: Literature",
"entity_name": "KCNA6",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:38:32.524878+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAAF4 as ready",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:38:32.518030+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaaf4 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:38:28.066291+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAAF4 as Green List (high evidence)",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:38:28.059260+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaaf4 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:37:59.693806+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CATSPER1 as ready",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:37:59.687558+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: catsper1 has been classified as Green List (High Evidence).",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:37:48.379223+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CATSPER1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:37:31.784679+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CATSPER1 as Green List (high evidence)",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:37:31.773740+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: catsper1 has been classified as Green List (High Evidence).",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:37:24.618779+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CATSPER1.",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:37:12.941851+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CATSPER1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 7, MIM# 612997; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:35:16.735843+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAAF1 as ready",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:35:16.726631+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaaf1 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:35:13.572205+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAAF1 as Green List (high evidence)",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:35:13.564898+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaaf1 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:34:48.314129+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAR as ready",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:34:48.304139+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: star has been classified as Green List (High Evidence).",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:34:41.673460+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAR as Green List (high evidence)",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:34:41.666996+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: star has been classified as Green List (High Evidence).",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:34:31.070367+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:31:54.891400+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFP36L2 as ready",
"entity_name": "ZFP36L2",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:31:54.880511+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfp36l2 has been classified as Green List (High Evidence).",
"entity_name": "ZFP36L2",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:31:50.007909+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFP36L2 as Green List (high evidence)",
"entity_name": "ZFP36L2",
"entity_type": "gene"
},
{
"created": "2025-06-10T16:31:49.995164+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfp36l2 has been classified as Green List (High Evidence).",
"entity_name": "ZFP36L2",
"entity_type": "gene"
},
{
"created": "2025-06-10T11:42:17.364645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2643",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "changed review comment from: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature; to: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature\r\n\r\ngnomAD and dgv gold frequency in insufficient.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-10T11:41:24.958031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2643",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "changed review comment from: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature; to: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-10T11:41:23.889475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2643",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "changed review comment from: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) reports deletions in seven families. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \nSources: Literature; to: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-10T11:36:52.707956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2643",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "gene: ANKS1B was added\ngene: ANKS1B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ANKS1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKS1B were set to PMID: 31388001; 38129387\nPhenotypes for gene: ANKS1B were set to Neurodevelopmental syndrome; developmental delay; speech delay; motor delay; autism; intellectual disability\nPenetrance for gene: ANKS1B were set to unknown\nReview for gene: ANKS1B was set to GREEN\nAdded comment: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) reports deletions in seven families. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \nSources: Literature",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-10T10:25:08.694044+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "2.13",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Classified gene: IGHM as Amber List (moderate evidence)",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2025-06-10T10:25:08.691125+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "2.13",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Technical challenges",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2025-06-10T10:25:08.670370+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "2.13",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ighm has been classified as Amber List (Moderate Evidence).",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:49:30.901656+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP13A3 were set to 31798832; 30679663; 29650961",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:49:19.803340+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP13A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:48:46.231066+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PANK2 as ready",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:48:46.221672+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Green List (High Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:48:43.140226+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PANK2 were changed from HARP syndrome; Neurodegeneration with brain iron accumulation 1 to pantothenate kinase-associated neurodegeneration MONDO:0009319",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:48:31.848539+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PANK2 were set to ",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:47:50.557563+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 82 with or without situs inversus, MIM# 615434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:47:21.313344+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARL2BP were changed from Ciliopathy MONDO:0005308 to Retinitis pigmentosa 82 with or without situs inversus, MIM#\t615434",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:46:57.631740+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL2BP as ready",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:46:57.624862+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl2bp has been classified as Green List (High Evidence).",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:46:50.955588+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARL2BP as Green List (high evidence)",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:46:50.948266+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl2bp has been classified as Green List (High Evidence).",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:45:29.282242+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2E3 as ready",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:45:29.272530+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2e3 has been classified as Green List (High Evidence).",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:45:25.316591+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2E3 were changed from Enhanced S - cone syndrome (AR); Retinitis pigmentosa 37 (AD and AR) to retinitis pigmentosa 37 MONDO:0012625",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:45:13.052055+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2E3 were set to ",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:45:01.610856+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR2E3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:41:49.331419+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6B as ready",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:41:49.321515+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6b has been classified as Green List (High Evidence).",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:41:43.451850+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6B were changed from Retinitis pigmentosa 40; Night blindness, congenital stationary, autosomal dominant 2 to inherited retinal dystrophy MONDO:0019118",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:41:29.282236+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6B were set to ",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:41:06.674122+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:26:26.574697+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related to Neurodevelopmental disorder (MONDO:0700092), PIP5K1C-related",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:25:45.127145+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 37451268; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), PIP5K1C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:22:04.223049+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB7B as ready",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:22:04.216093+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7b has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:22:00.282450+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB7B were changed from Combined Immune deficiency; interstitial lung disease; severe atopy to Inborn error of immunity, MONDO:0003778, ZBTB7B-related",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:21:34.949438+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB7B as Amber List (moderate evidence)",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:21:34.942723+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7b has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:21:10.680944+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZBTB7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, ZBTB7B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:20:03.748538+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB7B as ready",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:20:03.741682+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7b has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:19:54.752181+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB7B as Amber List (moderate evidence)",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:19:54.746099+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7b has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:19:21.743326+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZBTB7B was added\ngene: ZBTB7B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZBTB7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZBTB7B were set to 40392549\nPhenotypes for gene: ZBTB7B were set to Inborn error of immunity, MONDO:0003778, ZBTB7B-related\nReview for gene: ZBTB7B was set to AMBER\nAdded comment: Single patient presented with a complex syndromic phenotype including CID, severe atopy, severe fibroinflammatory interstitial lung disease, corneal vascularization and scarring, sensorineural hearing loss, global developmental delay, and growth failure.\r\n\r\nK360N variant is not found in unaffected individuals; functional investigations indicate that K360N exhibits damaging multimorphic effects; and the causal relationship between K360N and the clinical phenotype was confirmed through gene transfer experiments in both T cells and pulmonary fibroblasts. \nSources: Literature",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:17:20.419409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB7B as ready",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:17:20.413165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7b has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:17:07.523899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB7B as Amber List (moderate evidence)",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:17:07.514238+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7b has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:16:50.883116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZBTB7B was added\ngene: ZBTB7B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZBTB7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZBTB7B were set to 40392549\nPhenotypes for gene: ZBTB7B were set to Inborn error of immunity, MONDO:0003778, ZBTB7B-related\nReview for gene: ZBTB7B was set to AMBER\nAdded comment: Single patient presented with a complex syndromic phenotype including CID, severe atopy, severe fibroinflammatory interstitial lung disease, corneal vascularization and scarring, sensorineural hearing loss, global developmental delay, and growth failure.\r\n\r\nK360N variant is not found in unaffected individuals; functional investigations indicate that K360N exhibits damaging multimorphic effects; and the causal relationship between K360N and the clinical phenotype was confirmed through gene transfer experiments in both T cells and pulmonary fibroblasts. \nSources: Literature",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-06-09T20:00:04.860245+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOP2B were set to 28343847; 31198993; 31409799; 12773624",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:59:43.971464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOP2B: Added comment: PMID 33459963: patient with intermediate phenotype and a de novo inframe deletion at p.Glu587. This variant is absent in gnomad and located in the Toprim domain (DECIPHER, PMID: 33459963). Clinical presentation included moderate intellectual disability, focal epilepsy and failure to thrive. This individual also presented with dysmorphic features, distal limb abnormalities and B-cell immunodeficiency characteristic of the current OMIM associated phenotype (MIM#609296) which ClinGen has assessed as moderate.\r\nPhenotype may be related to variant location but more cases needed to see whether phenotypes are distinct, representing multiple disease entities or a continuum.; Changed publications: 28343847, 31198993, 31409799, 12773624, 33459963",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:57:17.033759+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOP2B were changed from Intellectual disability to Intellectual disability (MONDO:0001071), TOP2B-related; B-cell immunodeficiency, distal limb anomalies, and urogenital malformations\tMIM#609296",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:56:01.861389+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOP2B as Green List (high evidence)",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:56:01.853828+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Green List (High Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:51:29.537598+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN2 were changed from Lupus; arthritis; common variable immunodeficiency to Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:51:04.844312+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPN2 were set to 32499645; 27658548",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:50:38.285957+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPN2 as Green List (high evidence)",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:50:38.278746+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn2 has been classified as Green List (High Evidence).",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:50:14.566603+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39028869; Phenotypes: Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:49:22.348955+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN2 were changed from Lupus; arthritis; common variable immunodeficiency to Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:48:59.960065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPN2 were set to 32499645; 27658548",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:48:40.788046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPN2 as Green List (high evidence)",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:48:40.777168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn2 has been classified as Green List (High Evidence).",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:48:23.089578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39028869; Phenotypes: Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:46:31.030104+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN2 as ready",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:46:31.023894+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn2 has been classified as Green List (High Evidence).",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:46:27.233959+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN2 were changed from Evans syndrome; SLE to Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:46:01.073014+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPN2 as Green List (high evidence)",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:46:01.066462+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn2 has been classified as Green List (High Evidence).",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-06-09T19:45:36.414778+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN2",
"entity_type": "gene"
}
]
}