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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=379",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=377",
"results": [
{
"created": "2024-10-03T10:40:58.494203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2028",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: ZDHHC16 as ready",
"entity_name": "ZDHHC16",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:40:58.436386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2028",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: zdhhc16 has been classified as Red List (Low Evidence).",
"entity_name": "ZDHHC16",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:40:45.333751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2028",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ZDHHC16 was added\ngene: ZDHHC16 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZDHHC16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZDHHC16 were set to 39313616\nPhenotypes for gene: ZDHHC16 were set to neurodevelopmental disorder MONDO:0700092, ZDHHC16-related\nReview for gene: ZDHHC16 was set to AMBER\ngene: ZDHHC16 was marked as current diagnostic\nAdded comment: 6 families including a pair of siblings\r\n\r\nAmber because 5 of the families had non specific phenotypes listed\r\nAbnormality of: \r\n the nervous system, metabolism/homeostasis, head/neck, immune system, the integument,\tthe digestive system, the respiratory system, the endocrine system,\tGrowth abnormality\t the skeletal system, the musculature, the eye\r\n\r\nSpecific HPOs were provided for one individual (homoyzygous for a canonical splice)\r\n\r\nAbnormality of the face; Cerebellar hypoplasia; Developmental regression; Encephalopathy; Hyperreflexia; Hypertonia; Hypotonia; Inguinal hernia; Laryngomalacia; Microcephaly; Motor delay; Optic atrophy; Seizure; Spastic paraparesis; Spasticity; Talipes equinovarus; Umbilical hernia \nSources: Literature",
"entity_name": "ZDHHC16",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:05:17.671955+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.284",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: KBTBD2 as ready",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:05:17.671955+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.270",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: KBTBD2 as ready",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:05:17.638158+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.270",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: kbtbd2 has been classified as Green List (High Evidence).",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:05:17.634316+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.284",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: kbtbd2 has been classified as Green List (High Evidence).",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:03:41.641024+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.284",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: KBTBD2 as Green List (high evidence)",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:03:41.596982+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.284",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: kbtbd2 has been classified as Green List (High Evidence).",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:03:39.022843+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.270",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: KBTBD2 as Green List (high evidence)",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:03:38.997069+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.270",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: kbtbd2 has been classified as Green List (High Evidence).",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:03:07.224608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2027",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: KBTBD2 as ready",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:03:07.208995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2027",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: kbtbd2 has been classified as Green List (High Evidence).",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:02:50.601759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2027",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: KBTBD2 as Green List (high evidence)",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:02:50.583389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2027",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: kbtbd2 has been classified as Green List (High Evidence).",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:01:39.626433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2026",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KBTBD2 was added\ngene: KBTBD2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KBTBD2 were set to 39313616\nPhenotypes for gene: KBTBD2 were set to neurodevelopmental disorder MONDO:0700092, KBTBD2-related\nReview for gene: KBTBD2 was set to GREEN\ngene: KBTBD2 was marked as current diagnostic\nAdded comment: 3 families - 2 compound hets and 1 hom\r\n\r\nphenotypes include:\r\nMicrocephaly, hypotonia, failure to thrive, IUGR, delayed gross motor development, dysmorphism \nSources: Literature",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:01:27.988930+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.283",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KBTBD2 was added\ngene: KBTBD2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KBTBD2 were set to 39313616\nPhenotypes for gene: KBTBD2 were set to neurodevelopmental disorder MONDO:0700092, KBTBD2-related\nReview for gene: KBTBD2 was set to GREEN\ngene: KBTBD2 was marked as current diagnostic\nAdded comment: 3 families - 2 compound hets and 1 hom\r\n\r\nphenotypes include:\r\nMicrocephaly, hypotonia, failure to thrive, IUGR, delayed gross motor development, dysmorphism \nSources: Literature",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T10:00:56.991021+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.269",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KBTBD2 was added\ngene: KBTBD2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KBTBD2 were set to 39313616\nPhenotypes for gene: KBTBD2 were set to neurodevelopmental disorder MONDO:0700092, KBTBD2-related\nReview for gene: KBTBD2 was set to GREEN\ngene: KBTBD2 was marked as current diagnostic\nAdded comment: 3 families - 2 compound hets and 1 hom\r\n\r\nphenotypes include:\r\nMicrocephaly, hypotonia, failure to thrive, IUGR, delayed gross motor development, dysmorphism \nSources: Literature",
"entity_name": "KBTBD2",
"entity_type": "gene"
},
{
"created": "2024-10-03T09:40:47.579265+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.256",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CRELD1 as ready",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-10-03T09:40:47.552334+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.256",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-10-03T09:40:43.431106+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.256",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CRELD1 as Amber List (moderate evidence)",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-10-03T09:40:43.415624+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.256",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-10-03T09:40:31.685426+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.255",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CRELD1 was added\ngene: CRELD1 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: CRELD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRELD1 were set to 37947183\nPhenotypes for gene: CRELD1 were set to Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771\nReview for gene: CRELD1 was set to AMBER\ngene: CRELD1 was marked as current diagnostic\nAdded comment: 2 families with cleft palate, intra-familial variability noted \nSources: Literature",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:32:32.653031+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EPB41L3 as ready",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:32:32.623453+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epb41l3 has been classified as Green List (High Evidence).",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:31:27.393614+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EPB41L3 as Green List (high evidence)",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:31:27.373906+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epb41l3 has been classified as Green List (High Evidence).",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:27:15.683729+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EPB41L3 was added\ngene: EPB41L3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPB41L3 were set to 39292993\nPhenotypes for gene: EPB41L3 were set to neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063\nReview for gene: EPB41L3 was set to GREEN\nAdded comment: 6 cases from 5 unrelated consanguineous families (2nd & 3rd degree) with homozygous LoF variants and a neurodevelopmental condition, including ID and seizures. Epb41l3 shRNA-mediated downregulation in mouse oligodendroglia demonstrated impaired oligodendrocyte function. \nSources: Literature",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:25:38.790663+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EPB41L3 as ready",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:25:38.773153+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epb41l3 has been classified as Green List (High Evidence).",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:23:56.129323+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EPB41L3 as Green List (high evidence)",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:23:56.113681+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epb41l3 has been classified as Green List (High Evidence).",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:22:32.160171+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EPB41L3 was added\ngene: EPB41L3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPB41L3 were set to 39292993\nPhenotypes for gene: EPB41L3 were set to neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063\nReview for gene: EPB41L3 was set to GREEN\nAdded comment: 6 cases from 5 unrelated consanguineous families (2nd & 3rd degree) with homozygous LoF variants and a neurodevelopmental condition, including ID and seizures. Epb41l3 shRNA-mediated downregulation in mouse oligodendroglia demonstrated impaired oligodendrocyte function. \nSources: Literature",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:19:29.285855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2025",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EPB41L3 as ready",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:19:29.258076+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2025",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epb41l3 has been classified as Green List (High Evidence).",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:11:05.169642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2025",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EPB41L3 as Green List (high evidence)",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:11:05.123602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2025",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epb41l3 has been classified as Green List (High Evidence).",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-02T12:10:41.987617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2024",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EPB41L3 was added\ngene: EPB41L3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPB41L3 were set to 39292993\nPhenotypes for gene: EPB41L3 were set to neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063\nReview for gene: EPB41L3 was set to GREEN\nAdded comment: 6 cases from 5 unrelated consanguineous families (2nd & 3rd degree) with homozygous LoF variants and a neurodevelopmental condition, including ID and seizures. Epb41l3 shRNA-mediated downregulation in mouse oligodendroglia demonstrated impaired oligodendrocyte function. \nSources: Literature",
"entity_name": "EPB41L3",
"entity_type": "gene"
},
{
"created": "2024-10-01T21:28:33.702339+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GCH1 as ready",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T21:28:33.682931+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Green List (High Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T21:26:26.651139+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GCH1 were changed from to GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0100186",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T21:23:40.660805+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GCH1 were set to 22473768; 7869202",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T21:20:16.392100+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GCH1 were set to ",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T21:19:30.952213+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T21:18:52.369393+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22473768, 7869202; Phenotypes: GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0100186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T21:15:58.442643+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:56:44.696139+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GAMT as ready",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:56:44.685332+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gamt has been classified as Green List (High Evidence).",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:56:39.299669+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GAMT were changed from to guanidinoacetate methyltransferase deficiency MONDO:0012999",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:56:02.452224+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GAMT were set to ",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:55:07.580002+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6293",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:54:16.770104+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301745; Phenotypes: guanidinoacetate methyltransferase deficiency MONDO:0012999; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:43:27.262821+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GALE as ready",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:43:27.244049+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gale has been classified as Green List (High Evidence).",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:43:10.267485+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GALE were changed from to galactose epimerase deficiency MONDO:0009257",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:42:37.144124+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GALE were set to ",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:41:50.295914+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:41:00.766550+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: 21290786; Phenotypes: galactose epimerase deficiency MONDO:0009257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:23:07.265797+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GALC as ready",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:23:07.252658+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: galc has been classified as Green List (High Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2024-10-01T20:20:06.576492+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GALC were changed from to Krabbe disease MONDO:000949",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:43:19.108665+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GALC were set to ",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:42:36.673279+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:41:56.757110+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301416; Phenotypes: Krabbe disease MONDO:000949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:33:47.073352+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.240",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GABRB2 as ready",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:33:47.033615+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.240",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gabrb2 has been classified as Green List (High Evidence).",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:33:29.332183+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.240",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GABRB2 as Green List (high evidence)",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:33:29.320359+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.240",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gabrb2 has been classified as Green List (High Evidence).",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:33:11.282655+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.239",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GABRB2 was added\ngene: GABRB2 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRB2 were set to 38996765\nPhenotypes for gene: GABRB2 were set to epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631\nMode of pathogenicity for gene: GABRB2 was set to Other\nReview for gene: GABRB2 was set to GREEN\ngene: GABRB2 was marked as current diagnostic\nAdded comment: At least 7 cases reported with dystonia as a feature of phenotype associated with gain-of-function variants. \nSources: Literature",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:31:05.975993+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GABRB2 as ready",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:31:05.949432+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gabrb2 has been classified as Green List (High Evidence).",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:30:05.136109+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GABRB2 as Green List (high evidence)",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T18:30:05.117838+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gabrb2 has been classified as Green List (High Evidence).",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T17:07:50.903866+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.355",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30139652, 34704010; Phenotypes: Combined oxidative phosphorylation deficiency 27 (MIM#616672); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2024-10-01T17:01:04.165617+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.355",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23743184, 23371790; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:52:55.318158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSKH1 as ready",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:52:55.304281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pskh1 has been classified as Green List (High Evidence).",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:52:43.986668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSKH1 as Green List (high evidence)",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:52:43.967770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pskh1 has been classified as Green List (High Evidence).",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:52:19.596136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSKH1 was added\ngene: PSKH1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSKH1 were set to 39132680\nPhenotypes for gene: PSKH1 were set to Cholestasis, progressive familial intrahepatic, 13, MIM# 620962\nReview for gene: PSKH1 was set to GREEN\nAdded comment: 4 consanguineous families (out of 279 families) with intrahepatic cholestasis:\r\n-1 patient died at 10mths with cholestasis/liver impairment and kidney impairment\r\n-3 cousins with cholestasis (2 with liver failure needing transplant) and kidney features (2 with kidney failure, 1 with renal echogenicity)\r\n-2 siblings with hepatic fibrosis (1 with unilateral renal agenesis)\r\n-2 siblings with unexplained liver cirrhosis (1 needing transplant) but normal kidney function\r\n\r\nWES identified 3 different homozygous variants in PSKH1 (Arg121Trp, Ile126Val, Arg183Cys). Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. A homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia. The phenotype could be rationalized by the loss of catalytic activity observed for each recombinant PSKH1 variant using in vitro kinase assays. Human PSKH1 is a poorly understood gene that may play important role in intracellular trafficking, is sensitive to intracellular Ca2+ concentration, and is localized to centrosomes, suggesting a link to cystogenesis. \nSources: Literature",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:50:42.686023+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSKH1 as ready",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:50:42.659245+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pskh1 has been classified as Green List (High Evidence).",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:50:37.113077+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSKH1 were changed from Hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, MIM# 620962",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:49:45.324121+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSKH1 as ready",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:49:45.306196+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pskh1 has been classified as Green List (High Evidence).",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:49:41.861452+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSKH1 were changed from Hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, MIM# 620962",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:48:32.388856+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSKH1 as ready",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:48:32.366661+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pskh1 has been classified as Green List (High Evidence).",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:48:24.321380+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSKH1 were changed from Hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, MIM# 620962",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:47:36.680350+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic, 13, MIM# 620962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-10-01T15:03:06.335416+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.355",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23564749, 23659685, 26815532; Phenotypes: Encephalopathy, progressive, with or without lipodystrophy (MIM#615924), Lipodystrophy, congenital generalized, type 2 (MIM#269700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-10-01T14:17:06.393207+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.355",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 36340607; Phenotypes: Bardet-Biedl syndrome 10 (MIM#615987); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:30:25.307838+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.355",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ALAD as ready",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:30:25.284176+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.355",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: alad has been classified as Green List (High Evidence).",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:30:21.407692+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.355",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ALAD were set to ",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:29:23.957196+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.354",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GAN as ready",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:29:23.945803+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.354",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gan has been classified as Green List (High Evidence).",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:29:17.655504+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.354",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GAN were set to ",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:28:26.092488+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.353",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ABAT as ready",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:28:26.081601+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.353",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: abat has been classified as Green List (High Evidence).",
"entity_name": "ABAT",
"entity_type": "gene"
}
]
}