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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1195",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1193",
"results": [
{
"created": "2021-10-04T15:53:40.825100+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.325",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:53:08.086673+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PANX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:52:42.071326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PANX1 as Green List (high evidence)",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:52:42.057715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: panx1 has been classified as Green List (High Evidence).",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:52:38.399827+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.233",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ABHD16A was added\ngene: ABHD16A was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD16A were set to PMID: 34587489\nPhenotypes for gene: ABHD16A were set to Spastic paraplegia\nReview for gene: ABHD16A was set to GREEN\nAdded comment: 11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls.\r\nIn 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian.\r\n4 missense variants, 1 frameshift, 1 nonsense. \r\nFrom PMID: 34587489 \nSources: Literature",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:51:47.470766+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.324",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ABHD16A was added\ngene: ABHD16A was added to Callosome. Sources: Literature\nMode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD16A were set to PMID: 34587489\nPhenotypes for gene: ABHD16A were set to Spastic paraplegia\nReview for gene: ABHD16A was set to GREEN\nAdded comment: 11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls.\r\nIn 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian.\r\n4 missense variants, 1 frameshift, 1 nonsense. \r\nFrom PMID: 34587489 \nSources: Literature",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:51:36.452188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZDHHC15 were changed from Mental retardation, X-linked 91, 300577 to Mental retardation, X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:51:30.104161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9305",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD16A were changed from Spastic paraplegia to Spastic paraplegia; Intellectual Disability; Callosome",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:50:50.953424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZDHHC15 were set to ",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:50:22.229507+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4163",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ABHD16A was added\ngene: ABHD16A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD16A were set to PMID: 34587489\nPhenotypes for gene: ABHD16A were set to Spastic paraplegia\nAdded comment: 11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls.\r\nIn 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian.\r\n4 missense variants, 1 frameshift, 1 nonsense. \r\nFrom PMID: 34587489 \nSources: Literature",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:49:24.683626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9303",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Lewis et al Neurology Genetics 2021\r\n\r\nFunctional analysis of 4 ZDHHC15 variants - x2 Jin et al, others identified through GeneMatcher\r\n\r\nYeast cells expressing ZDHHC15 p.L13P (Jin et al, maternally inherited), p.K115R (maternally inherited) and p.S330p were indistinguishable from cells harboring the reference ZDHHC15 allele, however those expressing p.H158R (also reported in Jin et al, maternally inherited) disrupted normal protein function.; to: Lewis et al Neurology Genetics 2021\r\n\r\nFunctional analysis of 4 ZDHHC15 variants - x2 Jin et al Nat Genet 2020 PMID 32989326, others identified through GeneMatcher\r\n\r\nYeast cells expressing ZDHHC15 p.L13P (Jin et al, maternally inherited), p.K115R (maternally inherited) and p.S330p were indistinguishable from cells harboring the reference ZDHHC15 allele, however those expressing p.H158R (also reported in Jin et al, maternally inherited) disrupted normal protein function.",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:48:33.835942+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9303",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: PANX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33495594, 30918116, 32838805; Phenotypes: Oocyte maturation defect 7, MIM#618550; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:48:13.871714+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFXANK as ready",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:48:13.863051+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfxank has been classified as Amber List (Moderate Evidence).",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:48:12.937059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9303",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ABHD16A as Green List (high evidence)",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:48:12.899150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9303",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:48:08.799005+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9302",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: 34345675; Phenotypes: cerebral palsy, intellectual disability, autism spectrum disorder, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:47:53.175609+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RFXANK as Amber List (moderate evidence)",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:47:53.149703+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfxank has been classified as Amber List (Moderate Evidence).",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:46:17.217821+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.130",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "gene: WLS was added\ngene: WLS was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WLS were set to PMID: 34587386\nPhenotypes for gene: WLS were set to Syndromic structural birth defects\nReview for gene: WLS was set to GREEN\nAdded comment: - Homozygous mutations in 10 affected persons from 5 unrelated families. \r\n- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. \r\n- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. \nSources: Literature",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:46:09.837429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WIPI2 as ready",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:46:09.828020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wipi2 has been classified as Green List (High Evidence).",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:45:57.365501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WIPI2 were set to 30968111",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:45:32.142969+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.8",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "gene: WLS was added\ngene: WLS was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WLS were set to PMID: 34587386\nPhenotypes for gene: WLS were set to Syndromic structural birth defects\nReview for gene: WLS was set to GREEN\nAdded comment: - Homozygous mutations in 10 affected persons from 5 unrelated families. \r\n- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. \r\n- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. \nSources: Literature",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:45:28.309096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WIPI2 as Green List (high evidence)",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:45:28.295642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wipi2 has been classified as Green List (High Evidence).",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:44:37.266742+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.88",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "gene: WLS was added\ngene: WLS was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WLS were set to PMID: 34587386\nPhenotypes for gene: WLS were set to Syndromic structural birth defects\nReview for gene: WLS was set to GREEN\nAdded comment: - Homozygous mutations in 10 affected persons from 5 unrelated families. \r\n- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. \r\n- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. \nSources: Literature",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:44:32.623323+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP11A as ready",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:44:32.603529+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:44:26.416919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9300",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SNIP1 were set to 22279524",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:44:23.773845+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP11A as Amber List (moderate evidence)",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:44:23.764632+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:43:50.227631+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP11A as ready",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:43:50.217571+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:43:46.693644+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP11A as Amber List (moderate evidence)",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:43:46.683256+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:43:10.595955+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP11A as ready",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:43:10.586624+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:43:03.995896+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP11A as Amber List (moderate evidence)",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:43:03.986297+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:42:41.495487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP11A as ready",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:42:41.485938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:42:28.928209+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: LONP1 as ready",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:42:28.916638+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: lonp1 has been classified as Red List (Low Evidence).",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:42:18.071167+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LONP1 was added\ngene: LONP1 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: LONP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LONP1 were set to 34547244\nPhenotypes for gene: LONP1 were set to Congenital diaphragmatic hernia\nPenetrance for gene: LONP1 were set to Incomplete\nReview for gene: LONP1 was set to RED\nAdded comment: LONP1 described as potential new risk factor for CDH. Putative disruptive variants are enriched by approx a factor 10 fold, but remain rare (up to 3% of studied CDH cohort). Segregation studies in 5 families showed incomplete penetrance, at ~50%. A mouse model with lung specific know-out had impaired lung development, but het mice unaffected. \nSources: Literature",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:42:09.714873+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.291",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RFXANK was added\ngene: RFXANK was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFXANK were set to PMID: 33855173; 23314770; 28676232\nPhenotypes for gene: RFXANK were set to Progressive Ataxia and Neurologic Regression; MHC class II deficiency, complementation group B MIM#209920\nReview for gene: RFXANK was set to AMBER\nAdded comment: PMID: 33855173 - 1 family (2 affecteds, 3rd not sequenced) with a homozygous c.271+1G>C splice variant, late-onset immunodeficiency and subacute progressive neurodegenerative disease, including cognition, motor, visual and cerebellar features. MRI demonstrated global cerebral and cerebellar atrophy.\r\n\r\nPMID: 23314770 - 1/34 MHCII deficient patients with biallelic variants reported with ataxia. Majority of patients (including patient with ataxia) share a founder variant (c.338-25_338del26).\r\n\r\nPMID: 28676232 - single 30 month old patient with ataxic gait and dysarthria and a homozygous PTC.\r\n\r\nSummary: 3 patients but uncommon feature, variable expressivity \nSources: Literature",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:42:03.458178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP11A as Amber List (moderate evidence)",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:42:03.449123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:41:07.801756+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP4 as ready",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:41:07.791830+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:41:06.719979+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.58",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "gene: WLS was added\ngene: WLS was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WLS were set to PMID: 34587386\nPhenotypes for gene: WLS were set to Syndromic structural birth defects\nReview for gene: WLS was set to GREEN\nAdded comment: - Homozygous mutations in 10 affected persons from 5 unrelated families. \r\n- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. \r\n- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. \nSources: Literature",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:41:01.056658+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP4 as Amber List (moderate evidence)",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:41:01.047505+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:40:20.175741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9298",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30968111, 34557665; Phenotypes: global developmental delay, intellectual disability, refractory infantile/childhood-onset epilepsy, progressive tetraplegia with joint contractures, dyskinesia, speech and visual impairment, autistic features, ataxic gait; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:38:09.273476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WLS as ready",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:38:09.263838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:37:42.118237+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WLS as Green List (high evidence)",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:37:42.109631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:35:22.844185+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9297",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ABHD16A was added\ngene: ABHD16A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD16A were set to PMID: 34587489\nPhenotypes for gene: ABHD16A were set to Spastic paraplegia\nReview for gene: ABHD16A was set to GREEN\nAdded comment: 11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls.\r\nIn 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian.\r\n4 missense variants, 1 frameshift, 1 nonsense. \r\nFrom PMID: 34587489 \nSources: Literature",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:34:50.450190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9297",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34570759; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:29:43.006041+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHQ1 as ready",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:29:42.994958+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shq1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:29:15.089168+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4162",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ATP11A was added\ngene: ATP11A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATP11A were set to PMID: 34403372\nPhenotypes for gene: ATP11A were set to Neurological disorder\nMode of pathogenicity for gene: ATP11A was set to Other\nReview for gene: ATP11A was set to AMBER\nAdded comment: PMID: 34403372:\r\n- Single de novo missense variant reported in a patient with developmental delay and neurological deterioration.\r\n- Patient MRI showed severe cerebral atrophy, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum. Axonal neuropathy suggested.\r\n- K/I heterozygous mice died perinatally.\r\n- Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc.\r\n\r\ngnomAD: some NMD PTCs present, good quality variants found with 4-5 hets. \nSources: Literature",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:28:52.732190+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHQ1 as Amber List (moderate evidence)",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:28:52.705277+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shq1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:28:27.991179+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHQ1 was added\ngene: SHQ1 was added to Regression. Sources: Literature\nMode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHQ1 were set to 34542157; 29178645\nPhenotypes for gene: SHQ1 were set to Dystonia; Neurodegeneration\nReview for gene: SHQ1 was set to AMBER\nAdded comment: Three unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration. Rated Amber as phenotypes likely represent a continuum but currently unclear what proportion have neurodegeneration. \nSources: Literature",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:27:05.520670+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.96",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ATP11A was added\ngene: ATP11A was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATP11A were set to PMID: 34403372\nPhenotypes for gene: ATP11A were set to Neurological disorder\nMode of pathogenicity for gene: ATP11A was set to Other\nReview for gene: ATP11A was set to AMBER\nAdded comment: PMID: 34403372:\r\n- Single de novo missense variant reported in a patient with developmental delay and neurological deterioration.\r\n- Patient MRI showed severe cerebral atrophy, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum. Axonal neuropathy suggested.\r\n- K/I heterozygous mice died perinatally.\r\n- Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc.\r\n\r\ngnomAD: some NMD PTCs present, good quality variants found with 4-5 hets. \nSources: Literature",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:26:13.530742+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4162",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: ERBB4: Changed phenotypes: intellectual disability",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:26:08.444903+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.232",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ATP11A was added\ngene: ATP11A was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATP11A were set to PMID: 34403372\nPhenotypes for gene: ATP11A were set to PMID: 34403372\nMode of pathogenicity for gene: ATP11A was set to Other\nReview for gene: ATP11A was set to AMBER\nAdded comment: PMID: 34403372:\r\n- Single de novo missense variant reported in a patient with developmental delay and neurological deterioration. \r\n- Patient MRI showed severe cerebral atrophy, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum. Axonal neuropathy suggested.\r\n- K/I heterozygous mice died perinatally.\r\n- Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc.\r\n\r\ngnomAD: some NMD PTCs present, good quality variants found with 4-5 hets. \nSources: Literature",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:26:02.070621+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4162",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ERBB4 was added\ngene: ERBB4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ERBB4 were set to 33603162\nPenetrance for gene: ERBB4 were set to unknown\nReview for gene: ERBB4 was set to GREEN\nAdded comment: CNVs reported only\r\nexonic deletions:\r\n3x families with ID, speech delays, aggressive outbursts (including 1x de novo)\r\n1x family with global dev delay inherited from unaffected parent\r\n\r\nexonic del with limited clinical info:\r\n1x severe expressive language delay \nSources: Literature",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:25:19.197069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9297",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ATP11A was added\ngene: ATP11A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATP11A were set to PMID: 34403372\nPhenotypes for gene: ATP11A were set to Neurological disorder\nMode of pathogenicity for gene: ATP11A was set to Other\nReview for gene: ATP11A was set to AMBER\nAdded comment: PMID: 34403372:\r\n- Single de novo missense variant reported in a patient with developmental delay and neurological deterioration. \r\n- Patient MRI showed severe cerebral atrophy, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum. Axonal neuropathy suggested.\r\n- K/I heterozygous mice died perinatally.\r\n- Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc.\r\n\r\ngnomAD: some NMD PTCs present, good quality variants found with 4-5 hets. \nSources: Literature",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:25:11.221574+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.17",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: TRIP4 was added\ngene: TRIP4 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIP4 were set to PMID: 34075209\nPhenotypes for gene: TRIP4 were set to cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures.\nReview for gene: TRIP4 was set to AMBER\ngene: TRIP4 was marked as current diagnostic\nAdded comment: PMID: 34075209:\r\nOne patient with cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures, hom PTV. The same PTV had been previously reported in 3 patients from 2 families with prenatal spinal muscular atrophy and congenital bone fractures (PMID: 26924529). \nSources: Literature",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:25:02.165927+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHQ1 as ready",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:25:02.153142+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shq1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:24:58.747166+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHQ1 as Amber List (moderate evidence)",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:24:58.737868+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shq1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:24:46.356015+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHQ1 was added\ngene: SHQ1 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHQ1 were set to 34542157; 29178645\nPhenotypes for gene: SHQ1 were set to Dystonia; Neurodegeneration\nReview for gene: SHQ1 was set to AMBER\nAdded comment: Three unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration. Rated Amber as phenotypes likely represent a continuum but currently unclear what proportion will have complex dystonia. \nSources: Literature",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:23:53.331625+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SARS as ready",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:23:53.322045+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sars has been classified as Amber List (Moderate Evidence).",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:23:37.463000+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SARS as Amber List (moderate evidence)",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:23:37.452903+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sars has been classified as Amber List (Moderate Evidence).",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:23:37.005154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9297",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "changed review comment from: - We identified homozygous mutations in 10 affected persons from 5 unrelated families. \r\n- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. \r\n- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. \nSources: Literature; to: - Homozygous mutations in 10 affected persons from 5 unrelated families. \r\n- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. \r\n- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. \r\nSources: Literature",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:20:36.666948+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SARS was added\ngene: SARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARS were set to 28236339; 34570399\nPhenotypes for gene: SARS were set to Intellectual disability\nReview for gene: SARS was set to AMBER\nAdded comment: Summary - 2 unrelated families with overlapping ID phenotype, and supporting in vitro and patient cell assays.\r\nPMID: 28236339 - an Iranian family (distantly related) segregating a homozygous missense (c.514G>A, p.Asp172Asn) with moderate ID, microcephaly, ataxia, speech impairment, and aggressive behaviour. Also, supporting in vitro functional assays demonstrating altered protein function.\r\nPMID: 34570399 - a consanguineous Turkish family segregating a homozygous missense (c.638G>T, p.(Arg213Leu)) with developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death. Also, reduced protein level and enzymatic activity in patient cells. \nSources: Literature",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:19:41.525580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9297",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "gene: WLS was added\ngene: WLS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WLS were set to PMID: 34587386\nPhenotypes for gene: WLS were set to Syndromic structural birth defects\nReview for gene: WLS was set to GREEN\nAdded comment: - We identified homozygous mutations in 10 affected persons from 5 unrelated families. \r\n- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. \r\n- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. \nSources: Literature",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:16:31.525706+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHQ1 as ready",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:16:31.517110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shq1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:16:28.383396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SARS as ready",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:16:28.371496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sars has been classified as Amber List (Moderate Evidence).",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:16:20.589350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHQ1 as Amber List (moderate evidence)",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:16:20.579960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shq1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:15:32.755011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHQ1 was added\ngene: SHQ1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHQ1 were set to 34542157; 29178645\nPhenotypes for gene: SHQ1 were set to Dystonia; Neurodegeneration\nReview for gene: SHQ1 was set to AMBER\nAdded comment: Three unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration.\r\n\r\nRated Amber as phenotypes likely represent a continuum but currently unclear. \nSources: Literature",
"entity_name": "SHQ1",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:12:58.320183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SARS as Amber List (moderate evidence)",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:12:58.310841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sars has been classified as Amber List (Moderate Evidence).",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-04T15:04:08.844746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SARS was added\ngene: SARS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARS were set to 28236339; 34570399\nPhenotypes for gene: SARS were set to Intellectual disability\nReview for gene: SARS was set to AMBER\nAdded comment: Summary - 2 unrelated families with overlapping ID phenotype, and supporting in vitro and patient cell assays.\r\nPMID: 28236339 - an Iranian family (distantly related) segregating a homozygous missense (c.514G>A, p.Asp172Asn) with moderate ID, microcephaly, ataxia, speech impairment, and aggressive behaviour. Also, supporting in vitro functional assays demonstrating altered protein function.\r\nPMID: 34570399 - a consanguineous Turkish family segregating a homozygous missense (c.638G>T, p.(Arg213Leu)) with developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death. Also, reduced protein level and enzymatic activity in patient cells. \nSources: Literature",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:58:35.275947+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: NFIB.",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:58:17.484184+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFIB as ready",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:58:17.472762+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfib has been classified as Green List (High Evidence).",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:58:15.328579+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFIB were changed from to Macrocephaly, acquired, with impaired intellectual development, MIM#618286",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:57:46.765634+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFIB were set to ",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:57:12.889301+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NFIB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIB",
"entity_type": "gene"
}
]
}