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{
"count": 220966,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=208",
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"results": [
{
"created": "2025-06-11T15:45:19.486004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Intragenic deletions >3indepedant families with developmental delay (speech and motor apraxia and dysmorphism) borderline IQ's, behavioural/ASD, reduced penetrance, most inherited from mildly or not affected parents. Mouse model.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T15:45:19.464639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: anks1b has been removed from the panel.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T15:43:30.092408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ANKS1B.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T13:52:09.587771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37238449; Phenotypes: Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: None",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2025-06-11T13:36:11.524143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: BMP6: Rating: AMBER; Mode of pathogenicity: None; Publications: 28335084, 29695288, 27590690, 34037557, 38719717; Phenotypes: iron overload, susceptibility to MONDO:0859316; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2025-06-11T13:34:21.044880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NADK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0014464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NADK2",
"entity_type": "gene"
},
{
"created": "2025-06-11T12:51:48.037158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: A4GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: 12823750, 15142124, 10747952, 10993874, 11896312, 27612185; Phenotypes: A4GALT-congenital disorder of glycosylation MONDO:0100587; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "A4GALT",
"entity_type": "gene"
},
{
"created": "2025-06-11T09:14:51.571106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"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\r\n\r\ngnomAD and dgv gold frequency in insufficient.; 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 is insufficient.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T09:13:27.598034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"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. Studies showed reduced transcript levels of both the MANE (long isoform) and the two short isoforms.\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.; 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": "2025-06-11T09:12:47.642664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"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. Studies showed reduced transcript levels of both the MANE long isoform and the two short isoforms.\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.; 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. Studies showed reduced transcript levels of both the MANE (long isoform) and the two short isoforms.\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": "2025-06-11T09:11:03.198518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"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\r\n\r\ngnomAD and dgv gold frequency in insufficient.; 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. Studies showed reduced transcript levels of both the MANE long isoform and the two short isoforms.\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": "2025-06-11T07:04:31.136808+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.581",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:NOTCH2NL from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-06-11T07:02:38.097593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:NOTCH2NL from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-06-11T07:01:42.651084+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: NOTCH2NL was changed to NOTCH2NLC.",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-06-11T07:01:24.503045+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: NOTCH2NL was changed to NOTCH2NLC.",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-06-11T07:00:56.484276+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: NOTCH2NL was changed to NOTCH2NLC.",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-06-11T07:00:06.977013+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.580",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: NOTCH2NL was changed to NOTCH2NLC.",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-06-11T06:59:27.466867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2652",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: NOTCH2NL was changed to NOTCH2NLC.",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-06-11T06:58:51.215739+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: NOTCH2NL was changed to NOTCH2NLC.",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-06-11T06:58:11.019392+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: NOTCH2NL was changed to NOTCH2NLC.",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-06-11T02:39:07.672109+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: H6PD as ready",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:39:07.655068+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h6pd has been classified as Green List (High Evidence).",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:38:51.911960+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H6PD as Green List (high evidence)",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:38:51.895659+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h6pd has been classified as Green List (High Evidence).",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:38:23.898584+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO43 as ready",
"entity_name": "FBXO43",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:38:23.890442+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo43 has been classified as Green List (High Evidence).",
"entity_name": "FBXO43",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:38:14.938351+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO43 as Green List (high evidence)",
"entity_name": "FBXO43",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:38:14.931618+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo43 has been classified as Green List (High Evidence).",
"entity_name": "FBXO43",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:37:43.692515+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARS2 as ready",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:37:43.685442+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Green List (High Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:37:38.705565+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LARS2 as Green List (high evidence)",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:37:38.698644+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Green List (High Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:37:20.593349+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B4 as ready",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:37:20.585603+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:37:12.730341+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HSD17B4 as Green List (high evidence)",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:37:12.720645+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:36:50.246759+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXD1 as ready",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:36:50.239980+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxd1 has been classified as Green List (High Evidence).",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:36:46.618091+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXD1 were changed from to Recurrent pregnancy loss and repeated implantation failure susceptibility",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:36:34.218622+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXD1 as Green List (high evidence)",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:36:34.211628+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxd1 has been classified as Green List (High Evidence).",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:35:41.619553+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIGLA as ready",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:35:41.611405+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: figla has been classified as Green List (High Evidence).",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:35:36.831341+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIGLA as Green List (high evidence)",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:35:36.821618+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: figla has been classified as Green List (High Evidence).",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:32:58.701387+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESR1 as ready",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:32:58.691414+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esr1 has been classified as Green List (High Evidence).",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:32:53.564589+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ESR1 as Green List (high evidence)",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:32:53.555987+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esr1 has been classified as Green List (High Evidence).",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:06:22.877022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA1C as ready",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:06:22.869764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba1c has been classified as Green List (High Evidence).",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:06:12.405016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA1C as Green List (high evidence)",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:06:12.396693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba1c has been classified as Green List (High Evidence).",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:05:37.995276+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBA1C was added\ngene: TUBA1C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TUBA1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBA1C were set to 39209701\nPhenotypes for gene: TUBA1C were set to Oocyte/zygote/embryo maturation arrest 24, MIM# 621232\nReview for gene: TUBA1C was set to GREEN\nAdded comment: New paper (biallelic variants for OZEMA)- i) PMID: 39209701- patients 1 and 2 from unrelated families with primary infertility experiencing recurrent preimplantation embryo development arrest (RPEA) carrying homozygous nonsense variant (p.Gln358Ter) and frameshift deletion variant (p.Tyr444Metfs*42), respectively. Transfection studies showed that both variants caused a significant decrease in the abundance of encoded proteins and abnormal cytoplasmic localisation manifested as localised protein aggregation. \nSources: Literature",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:04:06.990566+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA1C as ready",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:04:06.980941+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba1c has been classified as Green List (High Evidence).",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:04:03.337801+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA1C were changed from Oocyte/zygote/embryo maturation arrest to Oocyte/zygote/embryo maturation arrest 24, MIM# 621232",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:03:45.338222+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA1C as Green List (high evidence)",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:03:45.328830+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba1c has been classified as Green List (High Evidence).",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:03:03.423548+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oocyte/zygote/embryo maturation arrest 24, MIM# 621232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:01:33.905377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA4A were changed from Congenital myopathy 26, MIM# 621225; Hereditary ataxia MONDO:0100309, TUBA4A-related to Congenital myopathy 26, MIM# 621225; Hereditary ataxia MONDO:0100309, TUBA4A-related; Oocyte/zygote/embryo maturation arrest 23, MIM# 621231",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-11T02:00:04.067052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oocyte/zygote/embryo maturation arrest 23, MIM# 621231; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-11T01:58:32.748343+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA4A were changed from Oocyte/zygote/embryo maturation arrest to Oocyte/zygote/embryo maturation arrest 23, MIM#\t621231",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-11T01:57:46.779387+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA4A as ready",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-11T01:57:46.766958+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Green List (High Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-11T01:57:38.597409+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA4A as Green List (high evidence)",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-11T01:57:38.590732+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Green List (High Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-11T01:55:09.571526+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA4A were changed from Hereditary ataxia MONDO:0100309, TUBA4A-related to Spastic ataxia 11, autosomal dominant, MIM# 621226",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-11T01:51:32.197325+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 11, autosomal dominant, MIM# 621226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-11T01:47:10.835845+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA4A were changed from Congenital myopathy MONDO:0019952 to Congenital myopathy 26, MIM# 621225; Hereditary ataxia MONDO:0100309, TUBA4A-related",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-11T01:46:04.726251+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA4A were changed from Congenital myopathy MONDO:0019952 to Congenital myopathy 26, MIM# 621225",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-11T01:45:33.499653+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 26, MIM# 621225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:55:32.886765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2647",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NAA60: Rating: ; Mode of pathogenicity: None; Publications: 38480682; Phenotypes: basal ganglia calcification, idiopathic, 9, autosomal recessive MONDO:0968977; Mode of inheritance: None",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:52:24.170716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2647",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: MYPN: Changed publications: 28017374, 28220527, 31133047, 18006477",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:51:56.102329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2647",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Comment for gene-disease association\r\nAR myopathy - Definitive classification by ClinGen: https://search.clinicalgenome.org/CCID:005552\r\nAD HCM - DISPUTED classification by ClinGen: https://search.clinicalgenome.org/CCID:005553\r\nAD DCM - Limited classification by ClinGen: https://search.clinicalgenome.org/CCID:005554; to: Comment for gene-disease association (addition of publications)\r\nAR myopathy - Definitive classification by ClinGen: https://search.clinicalgenome.org/CCID:005552\r\n(PMID for myopathy: 28017374, 28220527, 31133047)\r\n\r\nAD DCM - Limited classification by ClinGen: https://search.clinicalgenome.org/CCID:005554\r\n(PMID for DCM: 18006477)\r\n\r\nAD HCM - DISPUTED classification by ClinGen: https://search.clinicalgenome.org/CCID:005553",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:48:56.983669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2647",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Comment for gene-disease association\r\nAR myopathy - Definitive classification by ClinGen: https://search.clinicalgenome.org/CCID:005552\r\nAD HCM - DISPUTED classification by ClinGen: https://search.clinicalgenome.org/CCID:005553\r\nAD DCM - Limited classification by ClinGen: https://search.clinicalgenome.org/CCID:005554; to: Comment for gene-disease association\r\nAR myopathy - Definitive classification by ClinGen: https://search.clinicalgenome.org/CCID:005552\r\nAD HCM - DISPUTED classification by ClinGen: https://search.clinicalgenome.org/CCID:005553\r\nAD DCM - Limited classification by ClinGen: https://search.clinicalgenome.org/CCID:005554",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:48:18.337666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2647",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MYPN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MYPN-related myopathy MONDO:0015023, dilated cardiomyopathy MONDO:0005021, hypertrophic cardiomyopathy MONDO:0005045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:27:23.326370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HRURF as ready",
"entity_name": "HRURF",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:27:23.319393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hrurf has been classified as Green List (High Evidence).",
"entity_name": "HRURF",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:27:14.132877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HRURF as Green List (high evidence)",
"entity_name": "HRURF",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:27:14.126776+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hrurf has been classified as Green List (High Evidence).",
"entity_name": "HRURF",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:26:55.271574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HRURF was added\ngene: HRURF was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HRURF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HRURF were set to 39872230; 40433810; 37012647; 28406533; 26269244; 24961381\nPhenotypes for gene: HRURF were set to Hypotrichosis 4, MIM# 146550\nReview for gene: HRURF was set to GREEN\nAdded comment: More than 10 unrelated individuals reported. \nSources: Literature",
"entity_name": "HRURF",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:25:35.811617+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HRURF as ready",
"entity_name": "HRURF",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:25:35.804222+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hrurf has been classified as Green List (High Evidence).",
"entity_name": "HRURF",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:25:31.088853+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HRURF as Green List (high evidence)",
"entity_name": "HRURF",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:25:31.082500+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hrurf has been classified as Green List (High Evidence).",
"entity_name": "HRURF",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:25:18.570133+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HRURF was added\ngene: HRURF was added to Hair disorders. Sources: Literature\nMode of inheritance for gene: HRURF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HRURF were set to 39872230; 40433810; 37012647; 28406533; 26269244; 24961381\nPhenotypes for gene: HRURF were set to Hypotrichosis 4, MIM#\t146550\nReview for gene: HRURF was set to GREEN\nAdded comment: More than 10 unrelated individuals reported. \nSources: Literature",
"entity_name": "HRURF",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:20:28.452887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA6 as ready",
"entity_name": "KCNA6",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:20:28.445912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2645",
"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": "2025-06-10T18:19:24.412353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNA6 as Green List (high evidence)",
"entity_name": "KCNA6",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:19:24.405324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2645",
"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": "2025-06-10T18:19:08.569649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNA6 was added\ngene: KCNA6 was added to Mendeliome. 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": "2025-06-10T18:17:48.279853+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": "Marked gene: KCNA6 as ready",
"entity_name": "KCNA6",
"entity_type": "gene"
},
{
"created": "2025-06-10T18:17:48.273110+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": "2025-06-10T18:17:41.351036+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"
}
]
}