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{
"count": 220613,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=115",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=113",
"results": [
{
"created": "2025-11-26T13:22:55.367924+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMER1 were changed from to Osteopathia striata with cranial sclerosis, MIM# 300373; MONDO:0010310",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:22:24.221409+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMER1 were set to ",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:21:57.561702+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMER1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:21:14.754373+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMER1 as ready",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:21:14.743149+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amer1 has been classified as Green List (High Evidence).",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:20:46.121355+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMER1 were changed from OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; Cleft palate to Osteopathia striata with cranial sclerosis, MIM# 300373",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:20:38.318109+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene AMER1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-26T13:20:33.651625+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMER1 were set to ",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:19:59.240013+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene AMER1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-26T13:19:21.946566+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene AMER1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-26T13:17:28.713943+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD11 as ready",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:17:28.705826+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd11 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:17:15.315441+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD11 were changed from Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; Orofacial Clefting with skeletal features; KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism) to KBG syndrome, MIM# 148050",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:17:06.527126+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD11 were set to 25838844; 2705097; 21782149; 27900361",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:16:52.508614+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 35861666; Phenotypes: KBG syndrome, MIM# 148050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:14:21.856727+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG1 as ready",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:14:21.849060+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Green List (High Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:14:19.880223+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTG1 were changed from BARAITSER-WINTER SYNDROME 2; BRWS2 to Baraitser-Winter syndrome 2, MIM# 614583",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:14:05.167021+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2, MIM# 614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:09:11.496301+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:09:11.488438+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:09:08.170611+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from BRWS1; BARAITSER-WINTER SYNDROME 1 to Baraitser-Winter syndrome 1, MIM# 243310",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:08:55.319967+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:06:56.955570+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGA as ready",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:06:56.947713+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aga has been classified as Green List (High Evidence).",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:06:53.838154+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGA were changed from Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short) to Aspartylglucosaminuria, MIM# 208400; MONDO:0008830",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:06:27.838143+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGA were set to ",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:05:57.258391+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:05:33.966240+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTSL2 as ready",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:05:33.948188+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl2 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:05:30.399362+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 MIM#231050 to Geleophysic dysplasia 1 MIM#231050",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:05:06.478411+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 231050 to Geleophysic dysplasia 1 MIM#231050",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:04:39.142928+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTSL2 were set to ",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:03:41.784976+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS17 as ready",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:03:41.760910+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts17 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:03:39.201025+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS17 were changed from Weill-Marchesani syndrome type 4 to Weill-Marchesani syndrome type 4 MIM# 613195",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:02:58.134214+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS10 as ready",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:02:58.105593+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts10 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:01:50.276926+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ABCC9: Well established gene-disease association.",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:01:39.817937+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:01:30.098148+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC9 as ready",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:01:30.051923+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc9 has been classified as Green List (High Evidence).",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:01:17.182060+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCC9 were set to ",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:00:35.642904+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACP5 as ready",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:00:35.624538+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acp5 has been classified as Green List (High Evidence).",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2025-11-26T13:00:02.339101+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACP5 were changed from Spondyloenchondrodysplasia with immune dysregulation 607944 to Spondyloenchondrodysplasia with immune dysregulation MIM#607944",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2025-11-26T12:59:41.269774+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACP5 were set to ",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2025-11-26T12:58:58.100747+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAN as ready",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2025-11-26T12:58:58.089570+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acan has been classified as Green List (High Evidence).",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2025-11-26T12:58:52.346601+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACAN were set to 24762113",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2025-11-26T12:53:22.557571+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy; Adult-onset leukoencephalopathy to Lissencephaly 5, MIM# 615191; Leukoencephalopathy, adult-onset, MIM# 621424",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2025-11-26T12:53:02.859660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAMB1: Changed phenotypes: Lissencephaly 5, MIM# 615191, Leukoencephalopathy, adult-onset, MIM# 621424",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2025-11-26T12:26:04.987033+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.144",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46743-Gain was added\nRegion: ISCA-46743-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-46743-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for Region: ISCA-46743-Gain were set to Xq25 duplication syndrome, MIM#300979; Xq25 deletion syndrome\nReview for Region: ISCA-46743-Gain was set to GREEN\nAdded comment: Established recurrent CNV associated with short stature, delayed development ID, carrier females may be affected. \nSources: ClinGen",
"entity_name": "ISCA-46743-Gain",
"entity_type": "region"
},
{
"created": "2025-11-26T12:04:58.390225+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.143",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46302-Gain was added\nRegion: ISCA-46302-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for Region: ISCA-46302-Gain were set to 46,XY sex reversal 2, MONDO:0010226\nReview for Region: ISCA-46302-Gain was set to GREEN\nAdded comment: Established triplosensitive region with XY individuals affected and XX carriers unaffected. Presents with male to female sex reversal. \nSources: ClinGen",
"entity_name": "ISCA-46302-Gain",
"entity_type": "region"
},
{
"created": "2025-11-26T11:51:44.175006+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.142",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46300-Loss was added\nRegion: ISCA-46300-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256\nReview for Region: ISCA-46300-Loss was set to GREEN\nAdded comment: Established recurrent CNV, distal breakpoints, defined in clingen as HI3 \nSources: ClinGen",
"entity_name": "ISCA-46300-Loss",
"entity_type": "region"
},
{
"created": "2025-11-26T11:47:07.734818+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.141",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "removed region:ISCA-46296 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-26T11:40:17.107283+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.140",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46296 was added\nRegion: ISCA-46296 was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-46296 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-46296 were set to Chromosome 15q24 deletion syndrome, MONDO:0013256\nReview for Region: ISCA-46296 was set to GREEN\nAdded comment: Well described recurrent CNV \nSources: ClinGen",
"entity_name": "ISCA-46296",
"entity_type": "region"
},
{
"created": "2025-11-26T11:33:06.385308+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.139",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37498-Loss was added\nRegion: ISCA-37498-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-37498-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37498-Loss were set to 11q13.2q13.4 deletion syndrome\nReview for Region: ISCA-37498-Loss was set to GREEN\nAdded comment: Well described recurrent CNV by Clingen with associated ID and dysmorphism. Overlaps 2 HI3 genes - KMT5B and SHANK2 \nSources: ClinGen",
"entity_name": "ISCA-37498-Loss",
"entity_type": "region"
},
{
"created": "2025-11-26T11:25:32.758872+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.138",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37448-Loss was added\nRegion: ISCA-37448-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-37448-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37448-Loss were set to Chromosome 15q11.2 deletion syndrome, MIM#615656\nPenetrance for Region: ISCA-37448-Loss were set to Incomplete\nReview for Region: ISCA-37448-Loss was set to GREEN\nAdded comment: Established recurrent CNV with neuropsychiatric and neurodevelopmental phenotypes. Known to have significantly reduced penetrance. \nSources: ClinGen",
"entity_name": "ISCA-37448-Loss",
"entity_type": "region"
},
{
"created": "2025-11-26T10:11:16.484890+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.12",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA1A were changed from Congenital fibrosis of the extraocular muscles, AD to Congenital fibrosis of the extraocular muscles, MONDO:0007614, TUBA1A-related",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2025-11-26T10:11:03.045735+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.11",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: TUBA1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital fibrosis of the extraocular muscles, MONDO:0007614, TUBA1A-related; Mode of inheritance: None",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2025-11-26T10:09:18.972539+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.11",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: TUBA1A were set to 30677308",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2025-11-26T10:03:55.158733+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.484",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene FGD5 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-26T10:03:52.228241+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.484",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: FGD5 was added\ngene: FGD5 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGD5 were set to 32037394; 30232381\nPhenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2025-11-26T10:02:59.188146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3659",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: FGD5 was added\ngene: FGD5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGD5 were set to 32037394; 30232381\nPhenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542\nReview for gene: FGD5 was set to RED\nAdded comment: Appears to be two separate families reported with different nonsense variants in FGD5 associated with TOF. There is some author and recruitment overlap however there is no compelling evidence to state the two probands are related. \r\n\r\n32037394 - one family reported with a nonsense variant in an individual with pulmonary stenosis and dysplastic valve, ASD - Glu322* (variant is absent in gnomAD v4.1)\r\n30232381 (missed this publication) - individual reported with TOF, ASD, AF, hypertension, aortic dilation Arg1225* - present in gnomADv4.1 singleton in EAS population.\r\n\r\nThere is no clear evidence that LoF is the mechanism of disease. No pathogenic variants have been reported in ClinVar at this stage thus the gene should remain as Red till further evidence is provided. \nSources: Literature",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2025-11-26T09:55:46.000954+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.285",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene HECTD4 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-26T09:55:45.635581+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HECTD4 was added\ngene: HECTD4 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HECTD4 were set to PMID: 36401616\nPhenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2025-11-26T07:08:23.548306+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF13 as ready",
"entity_name": "KLF13",
"entity_type": "gene"
},
{
"created": "2025-11-26T07:08:23.541134+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLF13",
"entity_type": "gene"
},
{
"created": "2025-11-26T07:07:21.918121+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL1 as ready",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-26T07:07:21.910763+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul1 has been classified as Green List (High Evidence).",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-26T07:06:57.407528+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL1 as ready",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-26T07:06:57.399762+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul1 has been classified as Green List (High Evidence).",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T21:09:36.900419+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.441",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CUL1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-25T21:09:33.694210+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUL1 was added\ngene: CUL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL1 were set to PMID: 41189326\nPhenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T21:09:21.570939+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CUL1 as Green List (high evidence)",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T21:09:21.559181+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul1 has been classified as Green List (High Evidence).",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T21:08:31.898465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL1 as ready",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T21:08:31.888436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul1 has been classified as Green List (High Evidence).",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T21:08:18.677199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CUL1 as Green List (high evidence)",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T21:08:18.667233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul1 has been classified as Green List (High Evidence).",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T21:07:51.077146+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL1 as ready",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T21:07:51.069017+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul1 has been classified as Green List (High Evidence).",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T21:07:46.932241+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CUL1 as Green List (high evidence)",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T21:07:46.921579+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul1 has been classified as Green List (High Evidence).",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T16:20:33.097569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed was removed from gene: PDE11A.",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2025-11-25T15:23:26.108135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3657",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: KLF13 as ready",
"entity_name": "KLF13",
"entity_type": "gene"
},
{
"created": "2025-11-25T15:23:26.097916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3657",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: klf13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLF13",
"entity_type": "gene"
},
{
"created": "2025-11-25T15:23:18.237069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3657",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: KLF13 as Amber List (moderate evidence)",
"entity_name": "KLF13",
"entity_type": "gene"
},
{
"created": "2025-11-25T15:23:18.226474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3657",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: klf13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLF13",
"entity_type": "gene"
},
{
"created": "2025-11-25T15:23:02.191462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3656",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KLF13 was added\ngene: KLF13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KLF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KLF13 were set to Congenital heart disease MONDO:0005453 - KLF13-related; Dilated cardiomyopathy - MONDO:0005021, KLF13-related\nReview for gene: KLF13 was set to AMBER\nAdded comment: Curated by ClinGen as Moderate for association with congenital heart disease (12/2/2024)\r\n\r\nPMID: 33215447 Wang et al 2020 - novel heterozygous variation, NM_015995.3: c.370G>T; p.(Glu124*), co-segregating with congenital heart disease in a 3-generation Chinese family. Supportive functional evidence.\r\n\r\nPMID: 35369534 Abhinav et al 2022 - NM_015995.3: c.430G>T; p.(Glu144*) co-segregated with congenital heart disease in a Han Chinese family. Supportive functional evidence.\r\n\r\nPMID: 32293321 Li et al 2020 - Two heterozygous missense variants in two unrelated patients with congenital heart disease. However, they have much higher gnomAD frequencies - c.487C > T (P163S) (11 hets gnomAD v4) and c.467G > A (S156N)(22 hets gnomAD v4). No segregation information and the functional evidence was not convincing. This paper was included as genetic evidence in the ClinGen curation.\r\n\r\nMonoallelic variants have also been reported in association with adult-onset DCM.\r\n\r\nPMID 36346048 Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect.\r\n\r\nPMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.\r\n\r\nMore evidence including segregation information, genotype-phenotype correlation between DCM and/or congenital heart disease and ascertainment from diverse ancestries required. \nSources: Literature",
"entity_name": "KLF13",
"entity_type": "gene"
},
{
"created": "2025-11-25T15:15:45.670559+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.53",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: KLF13 as Amber List (moderate evidence)",
"entity_name": "KLF13",
"entity_type": "gene"
},
{
"created": "2025-11-25T15:15:45.663479+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.53",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: klf13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLF13",
"entity_type": "gene"
},
{
"created": "2025-11-25T15:15:11.623457+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.52",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: PMID 36346048 Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect. \r\n\r\nPMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.\r\n\r\nMore genetic evidence including segregation information and ascertainment from diverse ancestries required. \nSources: Literature; to: PMID 36346048 Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect. \r\n\r\nPMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.\r\n\r\nMore evidence including segregation information, genotype-phenotype correlation DCM and/or congenital heart disease and ascertainment from diverse ancestries required. \r\n\r\nSources: Literature",
"entity_name": "KLF13",
"entity_type": "gene"
},
{
"created": "2025-11-25T15:14:01.727249+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.52",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KLF13 was added\ngene: KLF13 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: KLF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLF13 were set to PMID: 36346048; 41201692\nPhenotypes for gene: KLF13 were set to Dilated cardiomyopathy - MONDO:0005021, KLF13-related\nReview for gene: KLF13 was set to AMBER\nAdded comment: PMID 36346048 Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect. \r\n\r\nPMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.\r\n\r\nMore genetic evidence including segregation information and ascertainment from diverse ancestries required. \nSources: Literature",
"entity_name": "KLF13",
"entity_type": "gene"
},
{
"created": "2025-11-25T14:55:22.559267+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.368",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene CUL1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-25T14:55:22.336191+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.368",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CUL1 was added\ngene: CUL1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL1 were set to PMID: 41189326\nPhenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T14:54:44.152911+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.283",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene CUL1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-25T14:54:42.992555+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.283",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CUL1 was added\ngene: CUL1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL1 were set to PMID: 41189326\nPhenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related",
"entity_name": "CUL1",
"entity_type": "gene"
},
{
"created": "2025-11-25T14:53:10.807295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3655",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CUL1 was added\ngene: CUL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL1 were set to PMID: 41189326\nPhenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related\nReview for gene: CUL1 was set to GREEN\nAdded comment: CUL1 encodes Cullin 1 and is part of the SCF ubiquitin ligase complex which is involved in protein degradation and cell cycle progression.\r\n\r\nOther Cullin proteins have previously been implicated in neurodevelopmental disorders e.g. CUL3\r\n\r\nPMID: 41189326 describes 4 probands with microcephaly (postnatal in 3 out of 4), severe ID, seizures (2/4) and variable dysmorphic features. Variant types include nonsense, missense and splice with proposed LOF mechanism. \r\nOne individual inherited the variant from an affected mother with a slightly milder phenotype.\r\nAll variants were very rare (1 het) or absent from gnomAD v4.\r\n\r\nCUL1 is under LOF constraint with very few NMD predicted variants in the population.\r\n\r\nThe paper described supportive zebrafish studies showing knockout models had reduced forebrain proportion and abnormal growth. \nSources: Literature",
"entity_name": "CUL1",
"entity_type": "gene"
}
]
}