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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=179",
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"results": [
{
"created": "2025-09-02T17:30:20.504103+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C1orf109 as Green List (high evidence)",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:30:20.494124+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1orf109 has been classified as Green List (High Evidence).",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:29:52.409348+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C1orf109 was added\ngene: C1orf109 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: C1orf109 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1orf109 were set to 40760247\nPhenotypes for gene: C1orf109 were set to Neurodevelopmental disorder, MONDO:0700092, C1orf109-related\nReview for gene: C1orf109 was set to GREEN\nAdded comment: Cohort of 11 unrelated families, encompassing 18 individuals with bi-allelic variants in C1orf109, 17 liveborn. Affected individuals presented with moderate-to-severe or severe global developmental delay/intellectual disability (17 of 17) and never achieved developmental milestones. Microcephaly and seizures were other common features.\r\n\r\nReduced ribosome activity demonstrated during early brain development. \nSources: Literature",
"entity_name": "C1orf109",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:21:54.544679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAP2 as ready",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:21:54.538202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:21:46.994184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASAP2 as Amber List (moderate evidence)",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:21:46.983518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:21:33.188423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASAP2 was added\ngene: ASAP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ASAP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ASAP2 were set to 40770811; 28191890; 33057194; 35982160\nPhenotypes for gene: ASAP2 were set to Neurodevelopmental disorder, MONDO:0700092, ASAP2-related\nReview for gene: ASAP2 was set to AMBER\nAdded comment: One individual reported with compound het missense variants. Identified in a cohort of individuals presenting with ID/microcephaly, PMID 40770811. Another individual with biallelic variants identified in the DDD cohort. Several others found with de novo variants through retrospective literature review of large cohort studies reporting multiple gene candidates. Functional experiments using CRISPR-Cas9 knockout in NPCs and brain organoids demonstrated reduced NPC proliferation, supporting the essential role of ASAP2 in brain development. Rated AMBER as only two families with bi-allelic variants and minimal information on the cases with mono-allelic variants. \nSources: Literature",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:20:11.266780+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAP2 as ready",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:20:11.256067+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:20:07.159228+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASAP2 as Amber List (moderate evidence)",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:20:07.147983+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:19:44.357539+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASAP2 was added\ngene: ASAP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ASAP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ASAP2 were set to 40770811; 28191890; 33057194; 35982160\nPhenotypes for gene: ASAP2 were set to Neurodevelopmental disorder, MONDO:0700092, ASAP2-related\nReview for gene: ASAP2 was set to AMBER\nAdded comment: One individual reported with compound het missense variants. Identified in a cohort of individuals presenting with ID/microcephaly, PMID 40770811. Another individual with biallelic variants identified in the DDD cohort. Several others found with de novo variants through retrospective literature review of large cohort studies reporting multiple gene candidates. Functional experiments using CRISPR-Cas9 knockout in NPCs and brain organoids demonstrated reduced NPC proliferation, supporting the essential role of ASAP2 in brain development. Rated AMBER as only two families with bi-allelic variants and minimal information on the cases with mono-allelic variants. \nSources: Literature",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:18:34.548727+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAP2 as ready",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:18:34.537542+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:16:58.070645+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASAP2 as Amber List (moderate evidence)",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:16:58.060942+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:16:31.431809+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASAP2 was added\ngene: ASAP2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ASAP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ASAP2 were set to 40770811; 28191890; 33057194; 35982160\nPhenotypes for gene: ASAP2 were set to Neurodevelopmental disorder, MONDO:0700092, ASAP2-related\nReview for gene: ASAP2 was set to AMBER\nAdded comment: One individual reported with compound het missense variants. Identified in a cohort of individuals presenting with ID/microcephaly, PMID 40770811. Another individual with biallelic variants identified in the DDD cohort. Several others found with de novo variants through retrospective literature review of large cohort studies reporting multiple gene candidates. Functional experiments using CRISPR-Cas9 knockout in NPCs and brain organoids demonstrated reduced NPC proliferation, supporting the essential role of ASAP2 in brain development.\r\n\r\nRated AMBER as only two families with bi-allelic variants and minimal information on the cases with mono-allelic variants. \nSources: Literature",
"entity_name": "ASAP2",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:12:27.203137+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two individuals with de novo missense variants identified in a cohort of individuals presenting with ID/microcephaly, PMID 40770811, and further 8 identified through retrospective literature review of large cohort studies reporting multiple candidates. Supportive functional data. \nSources: Literature; to: Two individuals with de novo missense variants identified in a cohort of individuals presenting with ID/microcephaly, PMID 40770811, and further 8 identified through retrospective literature review of large cohort studies reporting multiple candidates. Functional experiments using CRISPR-Cas9 knockout in NPCs and brain organoids demonstrated reduced NPC proliferation, supporting the essential role of RTF1 in brain development.\r\nSources: Literature",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:12:11.351547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two individuals with de novo missense variants identified in a cohort of individuals presenting with ID/microcephaly, PMID 40770811, and further 8 identified through retrospective literature review of large cohort studies reporting multiple candidates. \nSources: Literature; to: Two individuals with de novo missense variants identified in a cohort of individuals presenting with ID/microcephaly, PMID 40770811, and further 8 identified through retrospective literature review of large cohort studies reporting multiple candidates. Functional experiments using CRISPR-Cas9 knockout in NPCs and brain organoids demonstrated reduced NPC proliferation, supporting the essential role of RTF1 in brain development.\r\nSources: Literature",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:11:50.059865+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTF1 as ready",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:11:50.049427+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtf1 has been classified as Green List (High Evidence).",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:11:46.246729+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RTF1 as Green List (high evidence)",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:11:46.237276+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtf1 has been classified as Green List (High Evidence).",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:11:21.998198+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RTF1 was added\ngene: RTF1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: RTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RTF1 were set to 40770811; 33057194; 35982160; 31038196\nPhenotypes for gene: RTF1 were set to Neurodevelopmental disorder, MONDO:0700092, RTF1-related\nReview for gene: RTF1 was set to GREEN\nAdded comment: Two individuals with de novo missense variants identified in a cohort of individuals presenting with ID/microcephaly, PMID 40770811, and further 8 identified through retrospective literature review of large cohort studies reporting multiple candidates. Functional experiments using CRISPR-Cas9 knockout in NPCs and brain organoids demonstrated reduced NPC proliferation, supporting the essential role of RTF1 in brain development. \nSources: Literature",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:09:32.247150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTF1 as ready",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:09:32.237038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtf1 has been classified as Green List (High Evidence).",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:08:40.640506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RTF1 as Green List (high evidence)",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:08:40.628813+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtf1 has been classified as Green List (High Evidence).",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:05:35.399840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RTF1 was added\ngene: RTF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RTF1 were set to 40770811; 33057194; 35982160; 31038196\nPhenotypes for gene: RTF1 were set to Neurodevelopmental disorder, MONDO:0700092, RTF1-related\nReview for gene: RTF1 was set to GREEN\nAdded comment: Two individuals with de novo missense variants identified in a cohort of individuals presenting with ID/microcephaly, PMID 40770811, and further 8 identified through retrospective literature review of large cohort studies reporting multiple candidates. \nSources: Literature",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:05:20.294160+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTF1 as ready",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:05:20.287468+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtf1 has been classified as Green List (High Evidence).",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:05:09.104333+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RTF1 as Green List (high evidence)",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:05:09.097446+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtf1 has been classified as Green List (High Evidence).",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T17:04:19.184764+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RTF1 was added\ngene: RTF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RTF1 were set to 40770811; 33057194; 35982160; 31038196\nPhenotypes for gene: RTF1 were set to Neurodevelopmental disorder, MONDO:0700092, RTF1-related\nReview for gene: RTF1 was set to GREEN\nAdded comment: Two individuals with de novo missense variants identified in a cohort of individuals presenting with ID/microcephaly, PMID 40770811, and further 8 identified through retrospective literature review of large cohort studies reporting multiple candidates. Supportive functional data. \nSources: Literature",
"entity_name": "RTF1",
"entity_type": "gene"
},
{
"created": "2025-09-02T16:29:46.789218+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.136",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 12 MIM#612955; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2025-09-02T15:59:58.127788+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAW1 as ready",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2025-09-02T15:59:58.116339+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daw1 has been classified as Green List (High Evidence).",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2025-09-02T15:59:47.989139+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAW1 as Green List (high evidence)",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2025-09-02T15:59:47.974266+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daw1 has been classified as Green List (High Evidence).",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2025-09-02T15:59:18.368476+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DAW1 was added\ngene: DAW1 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570\nReview for gene: DAW1 was set to GREEN\nAdded comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype. \nSources: Expert Review",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2025-09-02T15:06:41.486795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2951",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: PIK3C3 as ready",
"entity_name": "PIK3C3",
"entity_type": "gene"
},
{
"created": "2025-09-02T15:06:41.477096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2951",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: pik3c3 has been classified as Red List (Low Evidence).",
"entity_name": "PIK3C3",
"entity_type": "gene"
},
{
"created": "2025-09-02T15:06:21.171588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2951",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PIK3C3 was added\ngene: PIK3C3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PIK3C3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3C3 were set to PMID:40677927\nPhenotypes for gene: PIK3C3 were set to Cornelia de Lange syndrome - MONDO:0016033\nReview for gene: PIK3C3 was set to RED\nAdded comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing. \r\n\r\nIn addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals:\r\n\r\n- ARID3A (missense variant, REVEL 0.72)\r\n- PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS)\r\n- MCM7 (LoF variant, gene linked with cohesin complex)\r\n- MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60)\r\n- WDR18 (missense variant, weak in silico, REVEL 0.268) \nSources: Literature",
"entity_name": "PIK3C3",
"entity_type": "gene"
},
{
"created": "2025-09-02T15:04:30.379572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2950",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: ARID3A as ready",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2025-09-02T15:04:30.369065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2950",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: arid3a has been classified as Red List (Low Evidence).",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2025-09-02T15:04:19.778082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2950",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ARID3A was added\ngene: ARID3A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARID3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARID3A were set to PMID: 40677927\nPhenotypes for gene: ARID3A were set to Cornelia de Lange syndrome - MONDO:0016033\nReview for gene: ARID3A was set to RED\nAdded comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing. \r\n\r\nIn addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals:\r\n\r\n- ARID3A (missense variant, REVEL 0.72)\r\n- PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS)\r\n- MCM7 (LoF variant, gene linked with cohesin complex)\r\n- MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60)\r\n- WDR18 (missense variant, weak in silico, REVEL 0.268) \nSources: Literature",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2025-09-02T14:33:29.432723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2949",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DDX39A as ready",
"entity_name": "DDX39A",
"entity_type": "gene"
},
{
"created": "2025-09-02T14:33:29.422671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2949",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: ddx39a has been classified as Red List (Low Evidence).",
"entity_name": "DDX39A",
"entity_type": "gene"
},
{
"created": "2025-09-02T14:33:19.828113+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2949",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DDX39A was added\ngene: DDX39A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DDX39A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDX39A were set to PMID: 40726340\nPhenotypes for gene: DDX39A were set to Neurodevelopmental disorder, MONDO:0700092, DDX39A-related\nReview for gene: DDX39A was set to RED\nAdded comment: PMID: 40726340 Ahmed et al 2025 (Clinical Genetics) report a 7 month old F with GDD, seizures, microcephaly, hypotonia, corpus callosum thinning and homozygous missense variant (p.Lys137Gln) in DDX39A on trio WES with both non-consanguineous parents confirmed to be heterozygous carriers. DDX39A is involved in mRNA splicing and export. Patient-derived fibroblast studies showed that mutant protein resulted in aberrant nuclear clumping and failure to interact with the TREX complex.\r\n\r\nOf note, closely-related paralogue DDX39B is also a component of the TREX complex and has a definitive monoallelic association with neurodevelopmental disorder. \nSources: Literature",
"entity_name": "DDX39A",
"entity_type": "gene"
},
{
"created": "2025-09-02T14:19:56.798628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2948",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: HYPK as ready",
"entity_name": "HYPK",
"entity_type": "gene"
},
{
"created": "2025-09-02T14:19:56.791638+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2948",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: hypk has been classified as Red List (Low Evidence).",
"entity_name": "HYPK",
"entity_type": "gene"
},
{
"created": "2025-09-02T14:19:17.150455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2948",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HYPK was added\ngene: HYPK was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HYPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HYPK were set to Clinical Genetics Early View\nPhenotypes for gene: HYPK were set to Neurodevelopmental disorder, MONDO:0700092, HYPK-related\nReview for gene: HYPK was set to RED\nAdded comment: Single case report - Patel, R. et al 2025 Clinical Genetics Early View\r\n\r\nMale proband with developmental delay, autism and facial dysmorphism with a de novo missense HYPK variant (p. R70I). Variant-specific biochemical analyses demonstrates enhanced inhibitory activity of HYPK on NatA-mediated N-terminal protein acetylation. \r\n\r\nGestaltMatcher analysis indicates that the proband's facial phenotype closely resembles Ogden syndrome (NAA10) and some resemblance to NAA15-NDS - both associated genes are also involved in the N-terminal acetylation pathway. \nSources: Literature",
"entity_name": "HYPK",
"entity_type": "gene"
},
{
"created": "2025-09-02T14:12:30.232177+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.323",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: MED29 was added\ngene: MED29 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: MED29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED29 were set to PMID: 40745490\nPhenotypes for gene: MED29 were set to Pontocerebellar hypoplasia, MONDO:0020135, MED29-related\nReview for gene: MED29 was set to AMBER\nAdded comment: MED29 encodes part of the mediator (MED) complex which has role in RNA polymerase II (Poll II) gene transcription.\r\n\r\nPMID: 40745490 describes 2 siblings from one consanguineous family affected with pontocerebellar hypoplasia, profound GDD, severe microcephaly, cataracts and variable seizures.\r\nBoth shared the same homozygous missense variant with presumed LOF mechanism.\r\n\r\nNo homozygous LOF variants in gnomAD v4.\r\n\r\nExtensive functional studies performed with morpholino knockdown of MED29 having marked reduction of GABAergic neurons and abnormal touch response.\r\nStudies of hippocampal neurons from mice with knockdown MED29 showed impaired development.\r\nMouse embryos that had knockdown of MED29 during development demonstrated abnormal neuronal migration. \nSources: Literature",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T14:11:52.727862+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.253",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: MED29 was added\ngene: MED29 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MED29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED29 were set to PMID: 40745490\nPhenotypes for gene: MED29 were set to Pontocerebellar hypoplasia, MONDO:0020135, MED29-related\nReview for gene: MED29 was set to AMBER\nAdded comment: MED29 encodes part of the mediator (MED) complex which has role in RNA polymerase II (Poll II) gene transcription.\r\n\r\nPMID: 40745490 describes 2 siblings from one consanguineous family affected with pontocerebellar hypoplasia, profound GDD, severe microcephaly, cataracts and variable seizures.\r\nBoth shared the same homozygous missense variant with presumed LOF mechanism.\r\n\r\nNo homozygous LOF variants in gnomAD v4.\r\n\r\nExtensive functional studies performed with morpholino knockdown of MED29 having marked reduction of GABAergic neurons and abnormal touch response.\r\nStudies of hippocampal neurons from mice with knockdown MED29 showed impaired development.\r\nMouse embryos that had knockdown of MED29 during development demonstrated abnormal neuronal migration. \nSources: Literature",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T14:11:12.383630+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.84",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: MED29 was added\ngene: MED29 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: MED29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED29 were set to PMID: 40745490\nPhenotypes for gene: MED29 were set to Pontocerebellar hypoplasia, MONDO:0020135, MED29-related\nReview for gene: MED29 was set to AMBER\nAdded comment: MED29 encodes part of the mediator (MED) complex which has role in RNA polymerase II (Poll II) gene transcription.\r\n\r\nPMID: 40745490 describes 2 siblings from one consanguineous family affected with pontocerebellar hypoplasia, profound GDD, severe microcephaly, cataracts and variable seizures.\r\nBoth shared the same homozygous missense variant with presumed LOF mechanism.\r\n\r\nNo homozygous LOF variants in gnomAD v4.\r\n\r\nExtensive functional studies performed with morpholino knockdown of MED29 having marked reduction of GABAergic neurons and abnormal touch response.\r\nStudies of hippocampal neurons from mice with knockdown MED29 showed impaired development.\r\nMouse embryos that had knockdown of MED29 during development demonstrated abnormal neuronal migration. \nSources: Literature",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T14:09:13.271923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2947",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: MED29 was added\ngene: MED29 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MED29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED29 were set to PMID: 40745490\nPhenotypes for gene: MED29 were set to Pontocerebellar hypoplasia, MONDO:0020135, MED29-related\nReview for gene: MED29 was set to AMBER\nAdded comment: MED29 encodes part of the mediator (MED) complex which has role in RNA polymerase II (Poll II) gene transcription. \r\n\r\nPMID: 40745490 describes 2 siblings from one consanguineous family affected with pontocerebellar hypoplasia, profound GDD, severe microcephaly, cataracts and variable seizures. \r\nBoth shared the same homozygous missense variant with presumed LOF mechanism.\r\n\r\nNo homozygous LOF variants in gnomAD v4.\r\n\r\nExtensive functional studies performed with morpholino knockdown of MED29 having marked reduction of GABAergic neurons and abnormal touch response. \r\nStudies of hippocampal neurons from mice with knockdown MED29 showed impaired development. \r\nMouse embryos that had knockdown of MED29 during development demonstrated abnormal neuronal migration. \nSources: Literature",
"entity_name": "MED29",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:43:44.511185+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.994",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 40830826; Phenotypes: Mitochondrial disease (MONDO:0044970), COX18-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:43:09.736444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2947",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 40830826; Phenotypes: Mitochondrial disease (MONDO:0044970), COX18-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:40:23.633162+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.553",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: CCDC93: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 40601774; Phenotypes: Ritscher-Schinzel syndrome, MONDO:0019078, CCDC93-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC93",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:39:55.066039+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.553",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CCDC93",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:39:51.029366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2947",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: CCDC93: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 40601774; Phenotypes: Ritscher-Schinzel syndrome, MONDO:0019078, CCDC93-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC93",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:39:19.510684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2947",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CCDC93",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:33:55.511111+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.553",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CCDC93 was added\ngene: CCDC93 was added to Callosome. Sources: Literature\nMode of inheritance for gene: CCDC93 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC93 were set to PMID: 40601774\nPhenotypes for gene: CCDC93 were set to Ritscher-Schinzel syndrome, MONDO:0019078, CCDC93-related\nReview for gene: CCDC93 was set to AMBER\nAdded comment: CCDC93 encodes the coiled coil domain containing subunit of commander complex involved in recycling of integral membrane proteins.\r\n\r\nPMID: 40601774 describes 1 affected individual with compound heterozygous variants in CCDC93 who presented with Ritscher Schinzel like phenotype. Features included hypoplasia of cerebellar hemispheres, hypoplasia of the brainstem and of the corpus callosum, distinctive facial features and multiple small renal cysts.\r\nVariants were missense and nonsense.\r\n\r\nNo homozygous LOF variants in gnomAD v4.\r\n\r\nSome supportive functional data. \nSources: Literature",
"entity_name": "CCDC93",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:33:22.355099+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.253",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CCDC93 was added\ngene: CCDC93 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CCDC93 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC93 were set to PMID: 40601774\nPhenotypes for gene: CCDC93 were set to Ritscher-Schinzel syndrome, MONDO:0019078, CCDC93-related\nReview for gene: CCDC93 was set to AMBER\nAdded comment: CCDC93 encodes the coiled coil domain containing subunit of commander complex involved in recycling of integral membrane proteins.\r\n\r\nPMID: 40601774 describes 1 affected individual with compound heterozygous variants in CCDC93 who presented with Ritscher Schinzel like phenotype. Features included hypoplasia of cerebellar hemispheres, hypoplasia of the brainstem and of the corpus callosum, distinctive facial features and multiple small renal cysts.\r\nVariants were missense and nonsense.\r\n\r\nNo homozygous LOF variants in gnomAD v4.\r\n\r\nSome supportive functional data. \nSources: Literature",
"entity_name": "CCDC93",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:32:28.798732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2947",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CCDC93 was added\ngene: CCDC93 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC93 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC93 were set to PMID: 40601774\nPhenotypes for gene: CCDC93 were set to Ritscher-Schinzel syndrome, MONDO:0019078, CCDC93-related\nReview for gene: CCDC93 was set to AMBER\nAdded comment: CCDC93 encodes the coiled coil domain containing subunit of commander complex involved in recycling of integral membrane proteins.\r\n\r\nPMID: 40601774 describes 1 affected individual with compound heterozygous variants in CCDC93 who presented with Ritscher Schinzel like phenotype. Features included hypoplasia of cerebellar hemispheres, hypoplasia of the brainstem and of the corpus callosum, distinctive facial features and multiple small renal cysts. \r\nVariants were missense and nonsense. \r\n\r\nNo homozygous LOF variants in gnomAD v4. \r\n\r\nSome supportive functional data. \nSources: Literature",
"entity_name": "CCDC93",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:12:33.646535+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP13A3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:12:10.412020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2947",
"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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2025-09-02T13:11:48.325194+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP13A3: Added comment: Biallelic variants reported in childhood onset. DEFINITIVE by ClinGen.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:51:11.245028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLGAP5 as ready",
"entity_name": "DLGAP5",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:51:11.238528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlgap5 has been classified as Green List (High Evidence).",
"entity_name": "DLGAP5",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:51:05.053232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLGAP5 as Green List (high evidence)",
"entity_name": "DLGAP5",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:51:05.042237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlgap5 has been classified as Green List (High Evidence).",
"entity_name": "DLGAP5",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:50:37.485543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLGAP5 was added\ngene: DLGAP5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DLGAP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLGAP5 were set to 40796344\nPhenotypes for gene: DLGAP5 were set to Infertility disorder, MONDO:0005047, DLGAP5-related\nReview for gene: DLGAP5 was set to GREEN\nAdded comment: 3 individuals with biallelic variants identified as part of a large cohort (N=488) of women experiencing recurrent early embryonic arrest. These variants significantly altered protein length, abundance, or localization, resulting in spindle abnormalities in HeLa cells and mouse zygotes. Furthermore, the microinjection of exogenous mutant DLGAP5 mRNA into mouse zygote and the construction of Dlgap5 site-directed mutant mice successfully replicated the patient phenotypes. Functional studies, both in vivo and in vitro, revealed that DLGAP5 deficiency disrupts normal spindle assembly through its interaction with TACC3. \nSources: Literature",
"entity_name": "DLGAP5",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:49:23.478416+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLGAP5 as ready",
"entity_name": "DLGAP5",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:49:23.468329+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlgap5 has been classified as Green List (High Evidence).",
"entity_name": "DLGAP5",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:49:19.905388+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLGAP5 as Green List (high evidence)",
"entity_name": "DLGAP5",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:49:19.894740+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlgap5 has been classified as Green List (High Evidence).",
"entity_name": "DLGAP5",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:49:13.275497+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLGAP5 was added\ngene: DLGAP5 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DLGAP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLGAP5 were set to 40796344\nPhenotypes for gene: DLGAP5 were set to Infertility disorder, MONDO:0005047, DLGAP5-related\nReview for gene: DLGAP5 was set to GREEN\nAdded comment: 3 individuals with biallelic variants identified as part of a large cohort (N=488) of women experiencing recurrent early embryonic arrest. These variants significantly altered protein length, abundance, or localization, resulting in spindle abnormalities in HeLa cells and mouse zygotes. Furthermore, the microinjection of exogenous mutant DLGAP5 mRNA into mouse zygote and the construction of Dlgap5 site-directed mutant mice successfully replicated the patient phenotypes. Functional studies, both in vivo and in vitro, revealed that DLGAP5 deficiency disrupts normal spindle assembly through its interaction with TACC3. \nSources: Literature",
"entity_name": "DLGAP5",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:46:52.352423+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.175",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CREB3 was added\ngene: CREB3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: CREB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CREB3 were set to PMID: 40674075\nPhenotypes for gene: CREB3 were set to Retinal degeneration, MONDO:0004580, CREB3-related\nReview for gene: CREB3 was set to GREEN\nAdded comment: CREB3 encodes Cyclic AMP response element binding protein-3 which is an endoplasmic reticulum–membrane-bound transcription factor.\r\n\r\nPMID: 40674075 describes 13 individuals from 4 families with the same homozygous nonsense variant (CREB:c.881G>A|p.Trp294). Affected individuals had retinal degeneration presenting initially with slowly progressive decreased visual acuity – significant variability in age of onset and severity – age 8-65.\r\n2 different haplotypes identified on which the variant was found.\r\n\r\nHomozygous LOF variants not present in CREB3 in gnomad v4.\r\n\r\nFunctional studies performed only demonstrated that mRNA transcript doesn't undergo NMD and that protein is expressed in retina. No variant specific or downstream effects investigated. \nSources: Literature",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:46:11.090632+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.56",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CREB3 was added\ngene: CREB3 was added to Cone-rod Dystrophy. Sources: Literature\nMode of inheritance for gene: CREB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CREB3 were set to PMID: 40674075\nPhenotypes for gene: CREB3 were set to Retinal degeneration, MONDO:0004580, CREB3-related\nReview for gene: CREB3 was set to GREEN\nAdded comment: CREB3 encodes Cyclic AMP response element binding protein-3 which is an endoplasmic reticulum–membrane-bound transcription factor.\r\n\r\nPMID: 40674075 describes 13 individuals from 4 families with the same homozygous nonsense variant (CREB:c.881G>A|p.Trp294). Affected individuals had retinal degeneration presenting initially with slowly progressive decreased visual acuity – significant variability in age of onset and severity – age 8-65.\r\n2 different haplotypes identified on which the variant was found.\r\n\r\nHomozygous LOF variants not present in CREB3 in gnomad v4.\r\n\r\nFunctional studies performed only demonstrated that mRNA transcript doesn't undergo NMD and that protein is expressed in retina. No variant specific or downstream effects investigated. \nSources: Literature",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:44:26.988321+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:44:26.982161+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:44:26.953437+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:44:17.967402+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:44:00.243696+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:44:00.230332+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:44:00.186263+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:43:56.580897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2944",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CREB3 was added\ngene: CREB3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CREB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CREB3 were set to PMID: 40674075\nPhenotypes for gene: CREB3 were set to Retinal degeneration, MONDO:0004580, CREB3-related\nReview for gene: CREB3 was set to GREEN\nAdded comment: CREB3 encodes Cyclic AMP response element binding protein-3 which is an endoplasmic reticulum–membrane-bound transcription factor.\r\n\r\nPMID: 40674075 describes 13 individuals from 4 families with the same homozygous nonsense variant (CREB:c.881G>A|p.Trp294). Affected individuals had retinal degeneration presenting initially with slowly progressive decreased visual acuity – significant variability in age of onset and severity – age 8-65. \r\n2 different haplotypes identified on which the variant was found. \r\n\r\nHomozygous LOF variants not present in CREB3 in gnomad v4. \r\n\r\nFunctional studies performed only demonstrated that mRNA transcript doesn't undergo NMD and that protein is expressed in retina. No variant specific or downstream effects investigated. \nSources: Literature",
"entity_name": "CREB3",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:43:52.166172+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:43:30.149540+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:43:30.144367+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:43:30.118709+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:43:20.552803+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:43:04.097972+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:43:04.093057+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:43:04.068076+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:42:55.815227+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:42:40.745144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2025-09-02T12:42:40.739102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.",
"entity_name": "ISPD",
"entity_type": "gene"
}
]
}