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"count": 214500,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=3",
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"results": [
{
"created": "2024-04-24T16:25:41.303916Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.80",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I; Microcephalic osteodysplastic primordial dwarfism, type I, 210710; MPD; microcephalic primordial dwarfism to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Lowry-Wood syndrome, OMIM:226960; Microcephalic primordial dwarfism",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:23:36.404783Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.541",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAIP were changed from Seckel syndrome 9, 616777 to Seckel syndrome 9, OMIM:616777",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:23:21.037665Z",
"panel_name": "Cerebral vascular malformations",
"panel_id": 147,
"panel_version": "3.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAIP were changed from Seckel syndrome 9 616777 to Seckel syndrome 9, OMIM:616777",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:23:16.724624Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.161",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAIP were changed from Seckel syndrome 9 to Seckel syndrome 9, OMIM:616777",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:22:51.533241Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.79",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAIP were changed from MPD; microcephalic primordial dwarfism; Seckel syndrome 9, 616777; Microcephaly to Seckel syndrome 9, OMIM:616777; Microcephalic primordial dwarfism",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:20:22.590643Z",
"panel_name": "Mitochondrial disorders",
"panel_id": 112,
"panel_version": "4.169",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: XRCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:20:09.623545Z",
"panel_name": "Mitochondrial disorders",
"panel_id": 112,
"panel_version": "4.169",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from Short stature, microcephaly, and endocrine dysfunction 616541 to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:19:45.155062Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.92",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:19:34.420244Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.160",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from PRIMORDIAL DWARFISM to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:19:32.571775Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "4.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from Short stature, microcephaly, and endocrine dysfunction 616541 to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:19:27.695576Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.540",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from PRIMORDIAL DWARFISM to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:19:13.789383Z",
"panel_name": "IUGR and IGF abnormalities",
"panel_id": 131,
"panel_version": "1.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541; Short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:18:22.228707Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from MPD; microcephalic primordial dwarfism; Short stature, microcephaly, and endocrine dysfunction, 616541 to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541; Microcephalic primordial dwarfism",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:17:14.765663Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ATRIP were set to ",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:16:58.103216Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATRIP was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:14:51.257627Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATRIP were changed from microcephaly, micrognathia, small ear lobes, dental crowding to Microcephalic primordial dwarfism; Microcephaly, micrognathia, small ear lobes, dental crowding",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:14:25.913169Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATRIP were changed from MPD; microcephalic primordial dwarfism; severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism to Microcephalic primordial dwarfism; Severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:13:24.045613Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.539",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5, OMIM:613805",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:12:50.210700Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.90",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from ?Meier-Gorlin syndrome 5, 613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia to Meier-Gorlin syndrome 5, OMIM:613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:12:43.360794Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "4.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from Meier-Gorlin syndrome 5\t613805 to Meier-Gorlin syndrome 5, OMIM:613805",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:12:41.853629Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.159",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5, OMIM:613805",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:12:24.639539Z",
"panel_name": "Deafness and congenital structural abnormalities",
"panel_id": 251,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from Bilateral Microtia; 613805; Meier-Gorlin syndrome 5, 613805; Neurology panel; Bilateral Microtia, 613805; Causes Meier-Gorlin EPS; syndromic features to Meier-Gorlin syndrome 5, OMIM:613805; Bilateral Microtia",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:12:03.314354Z",
"panel_name": "IUGR and IGF abnormalities",
"panel_id": 131,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia to Meier-Gorlin syndrome 5, OMIM:613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:11:17.797617Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from MPD; microcephalic primordial dwarfism; ?Meier-Gorlin syndrome 5, 613805 to Meier-Gorlin syndrome 5, OMIM:613805; Microcephalic primordial dwarfism",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:09:01.775669Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CENPE were changed from ?Microcephaly 13, primary, autosomal recessive, 616051; MPD; microcephalic primordial dwarfism to ?Microcephaly 13, primary, autosomal recessive, OMIM:616051; Microcephalic primordial dwarfism",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:08:08.153337Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.538",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from MEIER-GORLIN SYNDROME 4 to Meier-Gorlin syndrome 4, OMIM:613804",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:07:37.915635Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "4.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from Meier-Gorlin syndrome 4 613804 to Meier-Gorlin syndrome 4, OMIM:613804",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:07:33.254029Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.158",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from MEIER-GORLIN SYNDROME 4 to Meier-Gorlin syndrome 4, OMIM:613804",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:07:16.817464Z",
"panel_name": "Deafness and congenital structural abnormalities",
"panel_id": 251,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from Bilateral Microtia; 613804; Meier-Gorlin syndrome 4, 613804; Causes Meier-Gorlin EPS; syndromic features; Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge to Meier-Gorlin syndrome 4, OMIM:613804; Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:06:30.377181Z",
"panel_name": "IUGR and IGF abnormalities",
"panel_id": 131,
"panel_version": "1.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia to Meier-Gorlin syndrome 4, OMIM:613804; micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:05:41.054592Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from MPD; microcephalic primordial dwarfism; Meier-Gorlin syndrome 4, 613804 to Meier-Gorlin syndrome 4, OMIM:613804; Microcephalic primordial dwarfism",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:03:36.622246Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, OMIM:210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:03:28.228278Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, OMIM:210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:03:17.121565Z",
"panel_name": "Primary ovarian insufficiency",
"panel_id": 155,
"panel_version": "1.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome 210900 to Bloom syndrome, OMIM:210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:03:02.628897Z",
"panel_name": "IUGR and IGF abnormalities",
"panel_id": 131,
"panel_version": "1.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome, 210900 to Bloom syndrome, OMIM:210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:02:56.219879Z",
"panel_name": "Haematological malignancies for rare disease",
"panel_id": 407,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Class: BM failure syndrome (typ AR); Bloom syndrome; leukaemia; lymphoma; skin squamous cell; other tumour types; Lymphoma; ALL; MDS; AML; Leukaemia; Carcinomas to Bloom syndrome, OMIM:210900; Class: BM failure syndrome (typ AR); Bloom syndrome; leukaemia; lymphoma; skin squamous cell; other tumour types; Lymphoma; ALL; MDS; AML; Leukaemia; Carcinomas",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:01:28.675182Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome, OMIM:210900 to Bloom syndrome, OMIM:210900; Microcephalic primordial dwarfism",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:00:27.076159Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "3.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from Cutaneous telangiectasia and cancer syndrome, familial, 614564 (biallelic) to ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:59:54.632291Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.537",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564; SECKEL SYNDROME TYPE 1 (SCKL1) to Seckel syndrome 1, OMIM:210600",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:59:30.227180Z",
"panel_name": "Clefting",
"panel_id": 81,
"panel_version": "4.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from SECKEL SYNDROME 1; SCKL1 to Seckel syndrome 1, OMIM:210600",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:59:18.650073Z",
"panel_name": "Clefting",
"panel_id": 81,
"panel_version": "4.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATR was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:58:24.764615Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ATR were set to ",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:58:11.300465Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from MPD; microcephalic primordial dwarfism; Seckel syndrome 1, 210600; MICROCEPHALIC PRIMORDIAL DWARFISM I to Seckel syndrome 1, OMIM:210600; Microcephalic primordial dwarfism",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-23T20:49:53.798453Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FEM1B: Added comment: Five individuals reported now with same recurrent missense variant, NM_015322.5:c.377G>A NP_056137.1:p.(Arg126Gln). Affected individuals shared a severe neurodevelopmental disorder with behavioral phenotypes and a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities, and facial dysmorphism. Overexpression of the the FEM1BR126Q variant but not FEM1B wild-type protein, during mouse brain development, resulted in delayed neuronal migration of the target cells.; Changed rating: GREEN; Changed publications to: 31036916, 38465576; Changed phenotypes to: Syndromic disease MONDO:0002254, FEM1B-related",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2024-04-23T20:47:32.552545Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP14 was added\ngene: USP14 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP14 were set to 38469793\nPhenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related\nReview for gene: USP14 was set to AMBER\nAdded comment: PMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations. \nSources: Literature",
"entity_name": "USP14",
"entity_type": "gene"
},
{
"created": "2024-04-23T20:39:37.313925Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU4-2 was added\ngene: RNU4-2 was added to Intellectual disability - microarray and sequencing. Sources: Literature\nMode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNU4-2 were set to 38645094\nPhenotypes for gene: RNU4-2 were set to Neurodevelopmental disorder, MONDO:0700092, RNU4-2 related\nReview for gene: RNU4-2 was set to GREEN\nAdded comment: Over 100 individuals reported with NND and heterozygous variants in a 18 bp region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and Stem III). The vast majority of individuals (77.3%) have the same highly recurrent single base-pair insertion (n.64_65insT). Variants in this region likely explain 0.41% of individuals with NDD. \nSources: Literature",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:38:16.741824Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.536",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene now has a relevant phenotype listed in OMIM (MIM# 620785)",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:38:16.693154Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.536",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:37:47.413499Z",
"panel_name": "Childhood onset dystonia, chorea or related movement disorder",
"panel_id": 847,
"panel_version": "3.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene now has a relevant phenotype listed in OMIM (MIM# 620785)",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:37:47.390221Z",
"panel_name": "Childhood onset dystonia, chorea or related movement disorder",
"panel_id": 847,
"panel_version": "3.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:37:44.345164Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene now has a relevant phenotype listed in OMIM (MIM# 620785)",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:37:44.325858Z",
"panel_name": "Childhood onset hereditary spastic paraplegia",
"panel_id": 568,
"panel_version": "4.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:37:42.123753Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene now has a relevant phenotype listed in OMIM (MIM# 620785)",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:37:42.086869Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:36:13.837247Z",
"panel_name": "Ataxia and cerebellar anomalies - narrow panel",
"panel_id": 477,
"panel_version": "4.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene now has a relevant phenotype listed in OMIM (MIM# 620785)",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:36:13.806419Z",
"panel_name": "Ataxia and cerebellar anomalies - narrow panel",
"panel_id": 477,
"panel_version": "4.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:19:42.800504Z",
"panel_name": "Paediatric disorders - additional genes",
"panel_id": 479,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.; to: Comment on list classification: This Green gene was signed off in Mar 2023 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:18:40.775140Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.157",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.; to: Comment on list classification: This Green gene was signed off in Mar 2023 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:17:57.383715Z",
"panel_name": "Paediatric disorders - additional genes",
"panel_id": 479,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PLD1 as Green List (high evidence)",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:17:57.379801Z",
"panel_name": "Paediatric disorders - additional genes",
"panel_id": 479,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:17:57.358600Z",
"panel_name": "Paediatric disorders - additional genes",
"panel_id": 479,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: pld1 has been classified as Green List (High Evidence).",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:17:40.578641Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.157",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PLD1 as Green List (high evidence)",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:17:40.569849Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.157",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:17:40.520604Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.157",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: pld1 has been classified as Green List (High Evidence).",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:17:14.705036Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.156",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_24_demote_red tag was added to gene: PLD1.\nTag Q2_24_expert_review tag was added to gene: PLD1.",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:15:55.913466Z",
"panel_name": "Paediatric disorders - additional genes",
"panel_id": 479,
"panel_version": "3.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_24_demote_red tag was added to gene: PLD1.\nTag Q2_24_expert_review tag was added to gene: PLD1.",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:15:23.930748Z",
"panel_name": "Paediatric disorders - additional genes",
"panel_id": 479,
"panel_version": "3.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PLD1: Copied review from Paediatric or syndromic cardiomyopathy (749) v3.43 panel:\r\n\r\nJesse Hayesmoore (Oxford Regional Genetics Laboratory)\r\nRed List (low evidence)\r\n\r\n\"On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD.\r\n\r\nI think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign) on the basis of current variant classification guidelines. Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel.\r\n\r\nOther papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease (not cardiomyopathy) have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines.\"\r\nCreated: 31 Jan 2024, 12:04 p.m. | Last Modified: 31 Jan 2024, 12:17 p.m",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:13:03.325764Z",
"panel_name": "Paediatric or syndromic cardiomyopathy",
"panel_id": 749,
"panel_version": "3.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PLD1 as Green List (high evidence)",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:13:03.320866Z",
"panel_name": "Paediatric or syndromic cardiomyopathy",
"panel_id": 749,
"panel_version": "3.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:13:03.285892Z",
"panel_name": "Paediatric or syndromic cardiomyopathy",
"panel_id": 749,
"panel_version": "3.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: pld1 has been classified as Green List (High Evidence).",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:06:16.676629Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.156",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PLD1: Copied review from Paediatric or syndromic cardiomyopathy (749) v3.43 panel:\r\n\r\nJesse Hayesmoore (Oxford Regional Genetics Laboratory)\r\nRed List (low evidence)\r\n\r\n\"On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD.\r\n\r\nI think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign) on the basis of current variant classification guidelines. Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel.\r\n\r\nOther papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease (not cardiomyopathy) have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines.\"\r\nCreated: 31 Jan 2024, 12:04 p.m. | Last Modified: 31 Jan 2024, 12:17 p.m",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T12:56:10.311019Z",
"panel_name": "Paediatric or syndromic cardiomyopathy",
"panel_id": 749,
"panel_version": "3.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_24_demote_red tag was added to gene: PLD1.\nTag Q2_24_expert_review tag was added to gene: PLD1.\nTag Q2_24_NHS_review tag was added to gene: PLD1.",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:45:11.887317Z",
"panel_name": "Early onset or syndromic epilepsy",
"panel_id": 402,
"panel_version": "4.195",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:44:52.641073Z",
"panel_name": "Early onset or syndromic epilepsy",
"panel_id": 402,
"panel_version": "4.194",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:43:50.339320Z",
"panel_name": "Skeletal ciliopathies",
"panel_id": 726,
"panel_version": "3.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Joubert Syndrome and Senior-Loken Syndrome 24 gene panel to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:43:47.037413Z",
"panel_name": "Childhood onset dystonia, chorea or related movement disorder",
"panel_id": 847,
"panel_version": "3.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Joubert Syndrome and Senior-Loken Syndrome 24 gene panel to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:43:43.699528Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Joubert Syndrome and Senior-Loken Syndrome 24 gene panel to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:43:36.430956Z",
"panel_name": "Ophthalmological ciliopathies",
"panel_id": 722,
"panel_version": "3.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Joubert Syndrome and Senior-Loken Syndrome 24 gene panel to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:43:19.283608Z",
"panel_name": "Rare multisystem ciliopathy disorders",
"panel_id": 150,
"panel_version": "1.171",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Joubert Syndrome and Senior-Loken Syndrome 24 gene panel to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:41:21.057078Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.89",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:40:39.705623Z",
"panel_name": "Clefting",
"panel_id": 81,
"panel_version": "4.109",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome, 146510 to Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:40:09.710146Z",
"panel_name": "Rare syndromic craniosynostosis or isolated multisuture synostosis",
"panel_id": 168,
"panel_version": "4.180",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome 175700; 175700 to Greig cephalopolysyndactyly syndrome, OMIM:175700",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:38:58.785850Z",
"panel_name": "Unexplained young onset end-stage renal disease",
"panel_id": 678,
"panel_version": "3.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome; Pallister-Hall syndrome 146510 to Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:38:46.420597Z",
"panel_name": "CAKUT",
"panel_id": 234,
"panel_version": "1.176",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:38:39.250003Z",
"panel_name": "Unexplained kidney failure in young people",
"panel_id": 156,
"panel_version": "1.119",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome 146510 to Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:37:50.605775Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.156",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from PALLISTER-HALL SYNDROME; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PREAXIAL POLYDACTYLY TYPE IV; POSTAXIAL POLYDACTYLY TYPE A to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510; Polydactyly, postaxial, types A1 and B, OMIM:174200; Polydactyly, preaxial, type IV, OMIM:174700",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:37:48.770218Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "4.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome 175700; Polydactyly, postaxial, types A1 and B 174200; Polydactyly, preaxial, type IV 174700; Pallister-Hall syndrome 146510; {Hypothalamic hamartomas, somatic} 241800 to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510; Polydactyly, postaxial, types A1 and B, OMIM:174200; Polydactyly, preaxial, type IV, OMIM:174700",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:37:37.615912Z",
"panel_name": "Limb disorders",
"panel_id": 384,
"panel_version": "4.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome 175700; Pallister-Hall syndrome 146510; Polydactyly, postaxial, types A1 and B 174200; Polydactyly, preaxial, type IV 174700; {Hypothalamic hamartomas, somatic} 241800; Polydactyly to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510; Polydactyly, postaxial, types A1 and B, OMIM:174200; Polydactyly, preaxial, type IV, OMIM:174700",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:36:37.317969Z",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 483,
"panel_version": "3.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510) to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:36:03.134404Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.535",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_24_demote_amber tag was added to gene: GLI3.\nTag Q2_24_NHS_review tag was added to gene: GLI3.",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:34:57.956938Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.535",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome, 175700Pallister-Hall syndrome, 146510Polydactyly, preaxial, type IV, 174700Polydactyly, postaxial, types A1 and B, 174200{Hypothalamic hamartomas, somatic}, 241800; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:34:23.495176Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.534",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GLI3 were set to ",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:33:47.450141Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.533",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GLI3 as Green List (high evidence)",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:33:47.444610Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.533",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Reassessed in view of the Red review by Tracy Lester on this Green gene \r\n\r\nRarely, individuals with Greig cephalopolysyndactyly syndrome or GLI3-Related Pallister-Hall syndrome have been found to have intellectual disability (PMID: 12414818; 14708104; 14608643; 34296525). This is usually observed in the most severely affected individuals and those with large deletions encompassing GLI3. The majority of patients have normal psychomotor development or only some mild delays. All GLI3-related disorders are more likely to be recognised in context of other features such as skeletal abnormalities. \r\n\r\nOverall, I therefore agree that this gene could be demoted to Amber at the next GMS panel update.",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:33:47.374353Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.533",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-04-23T08:49:03.264130Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.11",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLM were set to PMID: 32972601\nPhenotypes for gene: BLM were set to Bloom syndrome\nPenetrance for gene: BLM were set to Complete\nReview for gene: BLM was set to GREEN\nAdded comment: Included in the review PMID: 32972601 as differential for cafe-au-lait \nSources: Expert Review",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-23T08:46:07.168182Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.11",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: SMARCB1 was added\ngene: SMARCB1 was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCB1 were set to PMID: 32972601\nPhenotypes for gene: SMARCB1 were set to Schwannomatosis-1, susceptibility to\nPenetrance for gene: SMARCB1 were set to Incomplete\nReview for gene: SMARCB1 was set to GREEN\nAdded comment: Included in the review PMID: 32972601 as differential for cafe-au-lait \nSources: Expert Review",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2024-04-22T15:49:14.019882Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.532",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: CPA6.",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2024-04-22T15:48:56.770599Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.532",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: CPA6",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2024-04-22T08:26:48.896349Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SASS6: Added comment: Two additional families:\r\n\r\nPMID: 38501757\r\n1x compound het for a fs and +3 splice variant.\r\n\r\nUsing cDNA RT-ed from mother's RNA, exons 13-15 were amplified and exon 14 was found to be skipped resulting in c.1546_1674del and p.516_558del\r\n\r\nPMID: 36739862\r\n1x family, compound het for 2 missense\r\nFunctional studies not performed; Changed rating: GREEN; Changed publications to: 24951542, 30639237, 38501757, 36739862",
"entity_name": "SASS6",
"entity_type": "gene"
}
]
}