HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
[
{
"created": "2024-05-02T13:20:12.554246Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DPP6 were changed from MCPH; primary microcephaly; autosomal dominant microcephaly and mental retardation; Mental retardation, autosomal dominant 33, 616311 to Intellectual developmental disorder, autosomal dominant 33, OMIM:616311",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:19:48.198329Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE was removed from gene: DPP6.",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:19:18.515029Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Relevant phenotype now listed in OMIM (Neurodevelopmental disorder with microcephaly and movement abnormalities, OMIM:620445)",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:19:18.477101Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TTI1 were changed from neurodevelopmental disorder with microcephaly to Neurodevelopmental disorder with microcephaly and movement abnormalities, OMIM:620445",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:18:44.550366Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: TTI1.",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:18:33.118848Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: PPFIBP1.",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:18:12.333866Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: NSD2.",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:18:03.907410Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: MECP2.",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:17:48.620734Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: KMT2B.",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:17:36.786592Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: BUB1.",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:17:23.402528Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: ATP6V0C.\nTag Q3_23_NHS_review was removed from gene: ATP6V0C.",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:17:10.240904Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: ARF3.",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:15:11.458442Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to TTI1.\nSource NHS GMS was added to TTI1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:15:11.227737Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to PPFIBP1.\nSource NHS GMS was added to PPFIBP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:15:10.982318Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to NSD2.\nSource NHS GMS was added to NSD2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:15:10.763049Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to MECP2.\nSource NHS GMS was added to MECP2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:15:10.465249Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to KMT2B.\nSource NHS GMS was added to KMT2B.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:15:10.247442Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Amber was added to DPP6.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:15:09.993779Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to BUB1.\nSource NHS GMS was added to BUB1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:15:09.740763Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to ATP6V0C.\nSource NHS GMS was added to ATP6V0C.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:15:09.486531Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to ARF3.\nSource NHS GMS was added to ARF3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:14:57.692463Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:14:57.662851Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:14:57.593360Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:14:57.498063Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:14:57.453298Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:14:57.417585Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: KMT2B: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:14:57.386675Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: BUB1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:14:57.357465Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:14:57.316555Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2024-05-02T09:23:50.238111Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed Region: ISCA-46743-Loss: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ISCA-46743-Loss",
"entity_type": "region"
},
{
"created": "2024-05-02T09:17:31.343239Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for Region: ISCA-46743-Loss were set to ",
"entity_name": "ISCA-46743-Loss",
"entity_type": "region"
},
{
"created": "2024-05-02T09:11:59.359802Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Region: ISCA-46743-Loss was added\nRegion: ISCA-46743-Loss was added to Severe microcephaly. Sources: ClinGen,Expert Review Amber\nMode of inheritance for Region: ISCA-46743-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ISCA-46743-Loss",
"entity_type": "region"
},
{
"created": "2024-05-01T12:44:45.435551Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 5.0 has been signed off on 2024-05-01",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-01T12:44:14.694338Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "5.0",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "promoted panel to version 5.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-29T09:22:50.727837Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.88",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: YIF1B.",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2024-04-26T11:20:01.075248Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.88",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CENPF were changed from MPD; microcephalic primordial dwarfism; Stromme syndrome, 243605; Microcephaly to Stromme syndrome, OMIM:243605; Microcephalic primordial dwarfism",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2024-04-26T11:18:26.356584Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.87",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GMNN were changed from MPD; microcephalic primordial dwarfism; Meier-Gorlin syndrome 6, 616835; MGORS6; primordial dwarfism to Meier-Gorlin syndrome 6, OMIM:616835; Microcephalic primordial dwarfism",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2024-04-26T11:13:56.276846Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.86",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: IGF1 were changed from Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747; MPD; microcephalic primordial dwarfism to Insulin-like growth factor I deficiency, OMIM:608747; Microcephalic primordial dwarfism",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2024-04-26T11:03:05.977970Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.85",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from MPD; microcephalic primordial dwarfism; LIG4 syndrome, 606593; microcephaly to LIG4 syndrome, OMIM:606593; Microcephalic primordial dwarfism",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2024-04-26T10:59:43.230165Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.84",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ORC1 were changed from MPD; microcephalic primordial dwarfism; Meier-Gorlin syndrome 1, 224690 to Meier-Gorlin syndrome 1, OMIM:224690; Microcephalic primordial dwarfism",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2024-04-26T10:56:24.588460Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.83",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ORC4 were changed from MPD; microcephalic primordial dwarfism; Meier-Gorlin syndrome 2, 613800 to Meier-Gorlin syndrome 2, OMIM:613800; Microcephalic primordial dwarfism",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:42:42.399861Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ORC6 were changed from MPD; microcephalic primordial dwarfism; Meier-Gorlin syndrome 3, 613803 to Meier-Gorlin syndrome 3, OMIM:613803; Microcephalic primordial dwarfism",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:39:05.711288Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.81",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from MPD; microcephalic primordial dwarfism; Microcephalic Osteodysplastic Primordial Dwarfism; Microcephalic osteodysplastic primordial dwarfism, type II, 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720; Microcephalic primordial dwarfism",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:25:41.303916Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.80",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I; Microcephalic osteodysplastic primordial dwarfism, type I, 210710; MPD; microcephalic primordial dwarfism to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Lowry-Wood syndrome, OMIM:226960; Microcephalic primordial dwarfism",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:22:51.533241Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.79",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAIP were changed from MPD; microcephalic primordial dwarfism; Seckel syndrome 9, 616777; Microcephaly to Seckel syndrome 9, OMIM:616777; Microcephalic primordial dwarfism",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:18:22.228707Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from MPD; microcephalic primordial dwarfism; Short stature, microcephaly, and endocrine dysfunction, 616541 to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541; Microcephalic primordial dwarfism",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:17:14.765663Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ATRIP were set to ",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:16:58.103216Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATRIP was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:14:25.913169Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATRIP were changed from MPD; microcephalic primordial dwarfism; severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism to Microcephalic primordial dwarfism; Severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:11:17.797617Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from MPD; microcephalic primordial dwarfism; ?Meier-Gorlin syndrome 5, 613805 to Meier-Gorlin syndrome 5, OMIM:613805; Microcephalic primordial dwarfism",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:09:01.775669Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CENPE were changed from ?Microcephaly 13, primary, autosomal recessive, 616051; MPD; microcephalic primordial dwarfism to ?Microcephaly 13, primary, autosomal recessive, OMIM:616051; Microcephalic primordial dwarfism",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:05:41.054592Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from MPD; microcephalic primordial dwarfism; Meier-Gorlin syndrome 4, 613804 to Meier-Gorlin syndrome 4, OMIM:613804; Microcephalic primordial dwarfism",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:01:28.675182Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome, OMIM:210900 to Bloom syndrome, OMIM:210900; Microcephalic primordial dwarfism",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:58:24.764615Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ATR were set to ",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:58:11.300465Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from MPD; microcephalic primordial dwarfism; Seckel syndrome 1, 210600; MICROCEPHALIC PRIMORDIAL DWARFISM I to Seckel syndrome 1, OMIM:210600; Microcephalic primordial dwarfism",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:37:42.123753Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene now has a relevant phenotype listed in OMIM (MIM# 620785)",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-23T13:37:42.086869Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-22T08:26:48.896349Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SASS6: Added comment: Two additional families:\r\n\r\nPMID: 38501757\r\n1x compound het for a fs and +3 splice variant.\r\n\r\nUsing cDNA RT-ed from mother's RNA, exons 13-15 were amplified and exon 14 was found to be skipped resulting in c.1546_1674del and p.516_558del\r\n\r\nPMID: 36739862\r\n1x family, compound het for 2 missense\r\nFunctional studies not performed; Changed rating: GREEN; Changed publications to: 24951542, 30639237, 38501757, 36739862",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2024-04-03T10:49:08.652792Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from Cornelia de Lange-like syndrome, MONDO:0016033 to Cornelia de Lange syndrome 6, OMIM:620568",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:42:14.341097Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.66",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: STAMBP were changed from Microcephaly-capillary malformation syndrome 614261 to Microcephaly-capillary malformation syndrome, OMIM:614261",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2024-03-01T14:54:44.673599Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.65",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2024-02-29T13:49:51.158552Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.64",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:13:00.664663Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.64",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: AKT3 as Amber List (moderate evidence)",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2024-02-29T11:13:00.648264Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.64",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2024-02-22T19:15:26.729336Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.63",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Seven children from five unrelated families were identified with either homozygous or compound heterozygous CAMSAP1 variants and were reported with a severe neurodevelopmental disorder apparent from infancy. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe or profound global developmental delay, cortical visual impairment, and seizures. \r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #620316) and in Gene2Phenotype (with 'moderate' rating in the DD panel). \nSources: Literature; to: Seven children from five unrelated families were identified with either homozygous or compound heterozygous CAMSAP1 variants and were reported with a severe neurodevelopmental disorder apparent from infancy. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe or profound global developmental delay, cortical visual impairment, and seizures. Microcephaly was severe in five children from four families.\r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #620316) and in Gene2Phenotype (with 'moderate' rating in the DD panel). \r\nSources: Literature",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2024-02-22T19:10:06.107059Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.63",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: CAMSAP1 as Amber List (moderate evidence)",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2024-02-22T19:10:06.087557Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.63",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2024-02-22T19:09:50.648985Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.62",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: CAMSAP1 as Red List (low evidence)",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2024-02-22T19:09:50.643802Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.62",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2024-02-22T19:09:50.605125Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.62",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Red List (Low Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2024-02-22T19:09:39.832988Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.61",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_24_promote_green tag was added to gene: CAMSAP1.",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2024-02-22T19:05:59.774394Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.61",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: CAMSAP1 was added\ngene: CAMSAP1 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAMSAP1 were set to 36283405\nPhenotypes for gene: CAMSAP1 were set to Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316\nReview for gene: CAMSAP1 was set to GREEN\nAdded comment: Seven children from five unrelated families were identified with either homozygous or compound heterozygous CAMSAP1 variants and were reported with a severe neurodevelopmental disorder apparent from infancy. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe or profound global developmental delay, cortical visual impairment, and seizures. \r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #620316) and in Gene2Phenotype (with 'moderate' rating in the DD panel). \nSources: Literature",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2024-02-21T20:40:58.019232Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.60",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_24_MOI tag was added to gene: ZNF335.\nTag Q1_24_expert_review tag was added to gene: ZNF335.",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2024-02-21T20:40:20.760030Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.60",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Other than the one case that was reported by Chicago lab with ZNF335 heterozygous variant (c.2515_2518dupGCCA/ p.Thr840Serfs) and with microcephaly, encephalopathy and developmental delay, all other cases reported in the literature and ClinVar had biallelic variants in ZNF335. Hence, the MOI should be updated to \"BIALLELIC, autosomal or pseudoautosomal\" in the next GMS review.",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2024-02-21T20:40:20.728017Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.60",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF335 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2024-02-21T20:39:12.198750Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.59",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: ZNF335: Changed rating: GREEN",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2024-02-21T20:38:58.589507Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.59",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ZNF335: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2024-01-31T17:46:46.494903Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ASPM were set to ",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2024-01-31T17:43:14.685736Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ASPM were changed from Microcephaly 5, primary, autosomal recessive; MCPH; primary microcephaly; Primary Microcephaly, Recessive; Autosomal recessive primary microcephaly (MCPH) ; Microcephaly 5, primary, autosomal recessive, 608716; Microcephaly 5, Primary, Autosomal Recessive to Microcephaly 5, primary, autosomal recessive, OMIM:608716",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2024-01-31T17:39:23.221570Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: WDR62 were set to ",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2024-01-31T17:37:55.651054Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: WDR62 were changed from MCPH; primary microcephaly; Primary Microcephaly 2 With or Without Cortical Malformations; Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317; microcephaly cortical malformations and mental retardation (MCMMR), 604317; Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2024-01-31T17:35:56.288182Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: MCPH1 were set to ",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2024-01-31T17:33:02.364494Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MCPH1 were changed from MCPH; primary microcephaly; Primary Microcephaly, Recessive; Microcephaly 1, primary, autosomal recessive, 251200; Microcephaly 1, Primary, Autosomal Recessive to Microcephaly 1, primary, autosomal recessive, OMIM:251200",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2024-01-25T12:06:32.438266Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.53",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2024-01-17T17:25:08.866258Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability - microarray and sequencing v5.405",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-01-17T17:25:08.785700Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ACBD6 was added\ngene: ACBD6 was added to Severe microcephaly. Sources: Expert Review Amber\nQ1_24_promote_green tags were added to gene: ACBD6.\nMode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACBD6 were set to 21937992; 32108178; 36457943; 37951597\nPhenotypes for gene: ACBD6 were set to Neurodevelopmental disorder, MONDO:0700092\nPenetrance for gene: ACBD6 were set to Complete",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-01-08T23:14:02.531074Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.52",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: MECP2 as Amber List (moderate evidence)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-01-08T23:14:02.527481Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.52",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As there is sufficient evidence available for the association of MECP2 with severe microcephaly, this gene can be promoted to green rating in the next GMS review.",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-01-08T23:14:02.507318Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.52",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-01-08T23:12:50.222814Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.51",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: MECP2 were changed from Rett syndrome, MIM# 312750; Encephalopathy, neonatal severe 300673 to Rett syndrome, OMIM:312750; Encephalopathy, neonatal severe, OMIM:300673; Intellectual developmental disorder, X-linked syndromic 13, OMIM:300055; Intellectual developmental disorder, X-linked syndromic, Lubs type, OMIM:300260",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-01-08T23:12:38.880905Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.50",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: MECP2 were set to ",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-01-08T23:12:13.717933Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.49",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: MECP2.",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-01-08T23:11:55.361732Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.49",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32393352, 34351885; Phenotypes: Rett syndrome, OMIM:312750, Encephalopathy, neonatal severe, OMIM:300673, Intellectual developmental disorder, X-linked syndromic 13, OMIM:300055, Intellectual developmental disorder, X-linked syndromic, Lubs type, OMIM:300260; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-01-05T23:37:18.243641Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.49",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated families reported with biallelic COG3 variants and hence this gene should be rated amber with current evidence.; to: Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated families reported with biallelic COG3 variants. Microcephaly was severe (-4 to -6 SD) in all three patients measured and hence this gene should be rated amber with current evidence.",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2024-01-05T23:23:42.561517Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.49",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated cases reported with biallelic COG3 variants and hence this gene should be rated amber with current evidence.; to: Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated families reported with biallelic COG3 variants and hence this gene should be rated amber with current evidence.",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2024-01-05T23:22:46.657036Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.49",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Entity copied from Congenital disorders of glycosylation v4.16",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2024-01-05T23:22:46.579756Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.49",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: COG3 was added\ngene: COG3 was added to Severe microcephaly. Sources: Literature,Expert Review Amber\nMode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG3 were set to 37711075\nPhenotypes for gene: COG3 were set to Congenital disorder of glycosylation, type IIbb, OMIM:620546",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-12-27T12:08:44.951812Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.48",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_21_expert_review was removed from gene: DPP6.\nTag Q4_21_rating was removed from gene: DPP6.",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2023-12-14T19:44:54.713361Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.48",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: PSMC3 as Amber List (moderate evidence)",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2023-12-14T19:44:54.701295Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.48",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2023-12-14T19:44:34.924449Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.47",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: 23 individuals with neurodevelopmental disorder were identified with 15 different de novo missense variants. Microcephaly was reported in in 6/17 (35%) cases, of which severe macrocephaly was in 2/16 (13%) cases. \nSources: Literature; to: 23 individuals with neurodevelopmental disorder were identified with 15 different de novo missense variants. Microcephaly was reported in in 6/17 (35%) cases, of which severe macrocephaly was in 2/16 (13%) cases. \r\nSources: Literature",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2023-12-14T19:43:57.556842Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.47",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: PSMC3 was added\ngene: PSMC3 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSMC3 were set to 37256937\nPhenotypes for gene: PSMC3 were set to neurodevelopmental disorder, MONDO:0700092; microcephaly, MONDO:0001149\nReview for gene: PSMC3 was set to AMBER\nAdded comment: 23 individuals with neurodevelopmental disorder were identified with 15 different de novo missense variants. Microcephaly was reported in in 6/17 (35%) cases, of which severe macrocephaly was in 2/16 (13%) cases. \nSources: Literature",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2023-12-08T16:02:09.780354Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: KMT2B.\nTag Q4_23_promote_green tag was added to gene: KMT2B.",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:13:19.888616Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: At least 80 patients have been reported with either KMT2B intragenic variants or chromosomal microdeletions. Clinical presentation most commonly comprises early-onset dystonia, but there were also reports of atypical patterns of dystonia evolution and a subgroup of patients with a neurodevelopmental disorder in the absence of dystonia. \r\n\r\nMicrocephaly of relevant severity to this panel has been reported in a sufficient number of cases to warrant inclusion on this panel with a Green rating. \nSources: Literature; to: At least 80 patients have been reported with either KMT2B intragenic variants or chromosomal microdeletions. Clinical presentation most commonly comprises early-onset dystonia, but there were also reports of atypical patterns of dystonia evolution and a subgroup of patients with a neurodevelopmental disorder in the absence of dystonia. \r\n\r\nMicrocephaly of relevant severity to this panel has been reported in a sufficient number of cases to warrant inclusion on this panel with a Green rating at the next GMS panel update.\r\nSources: Literature",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:12:59.822153Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: KMT2B as Amber List (moderate evidence)",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:12:59.810786Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: kmt2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T17:12:53.307993Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: KMT2B was added\ngene: KMT2B was added to Severe microcephaly. Sources: Literature\nQ3_23_promote_green tags were added to gene: KMT2B.\nMode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KMT2B were set to 27839873; 27839873; 33150406\nPhenotypes for gene: KMT2B were set to Dystonia 28, childhood-onset, OMIM:617284; Intellectual developmental disorder, autosomal dominant 68, OMIM:619934\nReview for gene: KMT2B was set to GREEN\nAdded comment: At least 80 patients have been reported with either KMT2B intragenic variants or chromosomal microdeletions. Clinical presentation most commonly comprises early-onset dystonia, but there were also reports of atypical patterns of dystonia evolution and a subgroup of patients with a neurodevelopmental disorder in the absence of dystonia. \r\n\r\nMicrocephaly of relevant severity to this panel has been reported in a sufficient number of cases to warrant inclusion on this panel with a Green rating. \nSources: Literature",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-12-05T13:48:50.808455Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Microcephaly is well recognized as a feature associated with pathogenic NSD2 variants. Of the published reports of microcephaly 50% (7/14) can be regarded as being severe, with a occipitofrontal circumference (OFC) below -3.0 standard deviations below the mean for age (PMID: 33941880 (including a review of previously published reports S4 table, PMID: 33276791).; to: Microcephaly is well recognized as a feature associated with pathogenic NSD2 variants. PMID: 33941880 reports three NSD2 variants in three unrelated cases of Rauch-Steindl syndrome (OMIM:619695), who have severe microcephaly (Occipitofrontal circumference (OFC) below >3.0 SD). Similarly, PMID: 33276791 reports a case with \r\nOFC of 44 cm (<−3SD). Further cases are examined in the supplementary table 4 in PMID: 33941880 ",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:44:30.680337Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: NSD2 as Amber List (moderate evidence)",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:44:30.674162Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be green on this panel.",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:44:30.630153Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: nsd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:42:37.627696Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: NSD2.",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:42:13.653769Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:29:41.667058Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NSD2 were changed from microcephaly, MONDO:0001149 to Rauch-Steindl syndrome, OMIM:619695; Rauch-Steindl syndrome, MONDO:0859219",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:28:15.704394Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.42",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: NSD2 were set to 30345613; 31171569; 29760529; 29892088",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-10-30T12:09:29.168225Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.41",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: ARF3 as Amber List (moderate evidence)",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2023-10-30T12:09:29.165265Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.41",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are four unrelated cases reported with severe microcephaly. Hence, this gene can be promoted to green rating in this panel in the next GMS review.",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2023-10-30T12:09:29.149325Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.41",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: arf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2023-10-30T12:08:13.545558Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.40",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ARF3 were set to 34346499",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2023-10-30T12:07:59.957331Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.39",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: ARF3.",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2023-10-30T12:07:40.852995Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.39",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36369169; Phenotypes: neurodevelopmental disorder, MONDO:0700092, microcephaly, MONDO:0001149; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2023-10-17T14:23:24.237338Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.37",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: BUB1",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2023-10-17T14:18:41.393976Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.37",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_22_promote_green was removed from gene: BUB1.\nTag Q4_23_promote_green tag was added to gene: BUB1.",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2023-10-16T18:14:26.631631Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.37",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: SPATA5L1",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:26:26.512529Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: PPFIBP1.\nTag Q4_23_promote_green tag was added to gene: PPFIBP1.",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:25:50.427419Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Early onset or syndromic epilepsy v4.107",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2023-10-11T11:25:50.364960Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: PPFIBP1 was added\ngene: PPFIBP1 was added to Severe microcephaly. Sources: Literature,Expert Review Amber\nQ2_23_promote_green tags were added to gene: PPFIBP1.\nMode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPFIBP1 were set to 35830857; 30214071\nPhenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024\nPenetrance for gene: PPFIBP1 were set to Complete",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:34:50.232693Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MED11 were changed from MED11-associated neurodevelopmental disorder to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:22:50.097285Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: INTS11 were changed from Complex neurodevelopmental disorder, MONDO:0100038 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-10-11T09:49:24.541190Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DOHH were changed from DOHH associated neurodevelopmental disorder to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:02:24.949135Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: WLS.",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:02:13.813571Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: TRAPPC10.",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:02:00.521351Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_23_promote_green was removed from gene: SARS.",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:01:46.957064Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_23_promote_green was removed from gene: NUP214.",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:01:36.069605Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: INTS11.",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:01:23.571894Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: GRM7.",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:01:05.755453Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_22_MOI was removed from gene: DOHH.\nTag Q4_22_promote_green was removed from gene: DOHH.",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:00:50.447852Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: ARPC4.",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:56:33.696078Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:56:33.669055Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:56:33.642138Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:56:33.598970Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: NUP214: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:56:33.577172Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:56:33.538195Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:56:33.514015Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: DOHH: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:56:33.487172Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:55:16.065721Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to WLS.\nSource NHS GMS was added to WLS.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:55:15.520344Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TRAPPC10.\nSource NHS GMS was added to TRAPPC10.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:55:15.108573Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SARS.\nSource NHS GMS was added to SARS.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:55:14.815854Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to NUP214.\nSource NHS GMS was added to NUP214.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:55:14.405721Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to INTS11.\nSource NHS GMS was added to INTS11.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:55:14.222184Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to GRM7.\nSource NHS GMS was added to GRM7.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:55:13.991840Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to DOHH.\nSource NHS GMS was added to DOHH.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2023-10-10T14:55:13.744787Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to ARPC4.\nSource NHS GMS was added to ARPC4.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2023-10-02T10:08:01.680833Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: SPATA5L1.",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-08-30T09:33:58.030243Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: ATP6V0C.\nTag Q3_23_promote_green tag was added to gene: ATP6V0C.\nTag Q3_23_NHS_review tag was added to gene: ATP6V0C.",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-30T09:33:37.279590Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: ATP6V0C as Amber List (moderate evidence)",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-30T09:33:37.273125Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence available for promoting this gene to green rating in the next GMS review.",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-30T09:33:37.242106Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-30T09:32:45.811129Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.30",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-30T09:32:28.527080Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ATP6V0C were set to 33190975; 33090716",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-30T09:30:52.130384Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.28",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36074901; Phenotypes: Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-08-21T14:19:43.803329Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.28",
"user_name": "Julia Baptista",
"item_type": "entity",
"text": "reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36074901; Phenotypes: Epilepsy, Intellectual Disability, Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-07-17T15:56:01.687234Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.28",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability - microarray and sequencing v5.205",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2023-07-17T15:56:01.641939Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.28",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: BUB1 was added\ngene: BUB1 was added to Severe microcephaly. Sources: Expert Review Amber,Literature\nQ4_22_promote_green tags were added to gene: BUB1.\nMode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BUB1 were set to 35044816\nPhenotypes for gene: BUB1 were set to Microcephaly 30, primary, autosomal recessive, OMIM:620183\nPenetrance for gene: BUB1 were set to Complete",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2023-06-14T09:32:17.480248Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: TTI1 as Amber List (moderate evidence)",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-06-14T09:32:17.476576Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-06-14T09:32:17.457008Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: tti1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-06-14T09:31:55.913470Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: TTI1.",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-06-14T09:24:52.796301Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TTI1 was added\ngene: TTI1 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTI1 were set to 36724785\nPhenotypes for gene: TTI1 were set to neurodevelopmental disorder with microcephaly\nReview for gene: TTI1 was set to GREEN\nAdded comment: TTI1 has not previously been associated with a phenotype in OMIM, Gen2Phen or MONDO. At least 2 variants have been reported. PMID: 36724785 reported 15 TTI1 variants as either homozygotes (2 families) or compound heterozygotes (7 families) in cases with a neurodevelopmental disorder with microcephaly. In all cases the parents were heterozygous carriers of the TTI1 variant identified in the affected child. Development delay was observed in all of the families (9/9), moderate to severe intellectual disability was evident in all families where it could be assessed (8/8) and severe microcephaly was present in members of 5/9 families. Supportive functional results were also presented. \nSources: Literature",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-06-06T16:02:37.949129Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_promote_green tag was added to gene: GRM7.",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-06-06T16:02:18.751023Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: GRM7 as Amber List (moderate evidence)",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-06-06T16:02:18.748006Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with severe microcephaly) for this gene to be promoted to GREEN rating at the next GMS review.",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-06-06T16:02:18.732152Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: grm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-06-06T16:01:21.485983Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: GRM7 were set to 2248644; 32286009",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-06-06T16:01:06.567759Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: GRM7: Changed publications to: 32286009",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-06-06T16:00:54.168489Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:32286009 reported eleven individuals from six unrelated families identified with three different biallelic variants and presenting with a neurodevelopmental disorder comprising severe to profound global developmental delays, intellectual disability, seizures, hypotonia, microcephaly and brain abnormalities. This is also supported by functional evidence from knockout mouse models, where absence of metabotropic glutamate receptor 7 alters the phenotypes within the domains of social behavior, associative learning, motor function, epilepsy and sleep (PMID:32248644).\r\n\r\nThis gene has also been associated with relevant phenotypes in both OMIM (MIM #618922) and in Gene2Phenotype (with 'strong' rating in the DD panel). \nSources: Literature; to: PMID:32286009 reported eleven individuals from six unrelated families identified with three different biallelic variants and presenting with a neurodevelopmental disorder comprising severe to profound global developmental delays, intellectual disability, seizures, hypotonia, microcephaly and brain abnormalities. Head circumference measurements at time of last visit were available in eight individuals (from six families) and were consistent with microcephaly (−3.8 to −2.7 SD from mean for age). Of these four individuals from three families had severe microcephaly (head circumference beyond 3 SD from mean for age).\r\n\r\nThis gene has also been associated with relevant phenotypes in both OMIM (MIM #618922) and in Gene2Phenotype (with 'strong' rating in the DD panel). \r\nSources: Literature",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-06-06T15:57:06.405436Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: GRM7: Changed publications to: 32248644, 32286009",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-06-06T15:52:48.635222Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: GRM7 was added\ngene: GRM7 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRM7 were set to 2248644; 32286009\nPhenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922\nReview for gene: GRM7 was set to GREEN\nAdded comment: PMID:32286009 reported eleven individuals from six unrelated families identified with three different biallelic variants and presenting with a neurodevelopmental disorder comprising severe to profound global developmental delays, intellectual disability, seizures, hypotonia, microcephaly and brain abnormalities. This is also supported by functional evidence from knockout mouse models, where absence of metabotropic glutamate receptor 7 alters the phenotypes within the domains of social behavior, associative learning, motor function, epilepsy and sleep (PMID:32248644).\r\n\r\nThis gene has also been associated with relevant phenotypes in both OMIM (MIM #618922) and in Gene2Phenotype (with 'strong' rating in the DD panel). \nSources: Literature",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2023-06-02T15:54:24.540435Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.22",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: FILIP1.",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-06-02T15:54:14.064496Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.22",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: There are two unrelated cases reported with severe microcephaly and three additional cases with microcephaly. Hence, this gene should be rated amber in this panel with the current evidence. 'watchlist' tag has been added to review the rating in the future new evidence.; to: Comment on list classification: There are two unrelated cases reported with severe microcephaly and three additional cases with microcephaly. Hence, this gene should be rated amber in this panel with the current evidence. The 'watchlist' tag has been added to review the rating in the future with any new evidence.",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-06-02T15:53:34.624529Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.22",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: FILIP1 as Amber List (moderate evidence)",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-06-02T15:53:34.621304Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.22",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are two unrelated cases reported with severe microcephaly and three additional cases with microcephaly. Hence, this gene should be rated amber in this panel with the current evidence. 'watchlist' tag has been added to review the rating in the future new evidence.",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-06-02T15:53:34.602165Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.22",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: filip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-06-02T15:19:32.290935Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.21",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: FILIP1 was added\ngene: FILIP1 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FILIP1 were set to 36943452; 37163662\nPhenotypes for gene: FILIP1 were set to microcephaly, MONDO:0001149\nReview for gene: FILIP1 was set to AMBER\nAdded comment: PMID:36943452 reported five individuals from three unrelated families with three different biallelic variants in FILIP1 gene (including the variant reported in the patient from PMID:36344539) and presenting with an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly and facial dysmorphism. Of these five patients, two unrelated patients had severe microcephaly (head circumference beyond 3 SD below the mean for age) and one patient from the family with three patients also had microcephaly (head circumference beyond 2 SD below the mean for age).\r\n\r\nPMID:37163662 reported five individuals from four unrelated families with four different biallelic variants in FILIP1 gene. The main symptoms in childhood included delayed motor milestones (all four families), delayed speech development (three families), intellectual disability (three families), contractures (2 families), clubfeet (2 families) and microcephaly (2 families). One of these cases only had borderline microcephaly (3rd percentile) and the other had OFC below 3rd percentile. \nSources: Literature",
"entity_name": "FILIP1",
"entity_type": "gene"
},
{
"created": "2023-06-01T15:20:40.877872Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: TRA2B as Amber List (moderate evidence)",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-06-01T15:20:40.873955Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are only two unrelated cases with severe microcephaly. Hence, this gene should be rated AMBER.",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-06-01T15:20:40.850410Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: tra2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-06-01T15:19:38.957604Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.19",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: TRA2B were changed from neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027 to neurodevelopmental disorder, MONDO:0700092; microcephaly, MONDO:0001149",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-06-01T15:19:13.989711Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: This gene has already been associated with phenotypes in Gene2Phenotype (with 'moderate' rating in the DD panel), but not in OMIM. \nSources: Literature; to: PMID:36549593 reported 12 individuals from 11 unrelated families identified with 11 different heterozygous variants in TRA2B gene. The variants arose de novo in 10 families, while the variant was inherited from father to son in one family. 6 variants were expected to disrupt the translation start site in exon 1 (start-loss variants), 3 were expected to disrupt the splicing process at the exon 2/3 boundary (splice-affecting variants), and the remaining 2 were expected to produce a premature stop codon (truncating variants).\r\n\r\nThese patients presented with a neurodevelopmental disorder comprising developmental delay/ intellectual disability (in all patients), axial or global hypotonia (10 patients), delayed motor milestones (all patients), behavioural issues (8 patients), speech impairment (9 patients), epilepsy (7 patients, initial presentation as infantile spasms in 6 and unclassified epileptic encephalopathy in 1), brain abnormalities (10 patients) and microcephaly (5 patients). Of 5 unrelated cases with microcephaly, only two cases had severe microcephaly (head circumference beyond 3 standard deviations below the mean for the age).\r\n\r\nIn addition, functional studies in mice showed that heterozygous knockout mice developed normal, while complete knockout mice cannot develop embryonically.\r\n\r\nThis gene has already been associated with phenotypes in Gene2Phenotype (with 'moderate' rating in the DD panel), but not in OMIM. \r\nSources: Literature",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-06-01T15:16:16.716877Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: TRA2B: Changed rating: AMBER; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, microcephaly, MONDO:0001149",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-06-01T14:48:13.298478Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: TRA2B was added\ngene: TRA2B was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRA2B were set to 36549593\nPhenotypes for gene: TRA2B were set to neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027\nReview for gene: TRA2B was set to GREEN\nAdded comment: This gene has already been associated with phenotypes in Gene2Phenotype (with 'moderate' rating in the DD panel), but not in OMIM. \nSources: Literature",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-05-31T12:02:14.426054Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_promote_green tag was added to gene: ARPC4.",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2023-05-31T12:01:55.436203Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: ARPC4 as Amber List (moderate evidence)",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2023-05-31T12:01:55.426706Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN at the next GMS review.",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2023-05-31T12:01:55.391899Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: arpc4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2023-05-31T12:01:15.329080Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: ARPC4 were changed from Microcephaly; mild motor delays; significant speech impairment to Developmental delay, language impairment, and ocular abnormalities, OMIM:620141; microcephaly, MONDO:0001149",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2023-05-31T12:01:03.667234Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2023-05-31T12:00:43.127462Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.14",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: ARPC4: As reviewed by Zornitza Stark, PMID:35047857 reported seven cases from six unrelated families with the same missense variant (p.Arg158Cys) and presenting with developmental and speech delays, of which six individuals from five families presented with microcephaly. Three individuals from two of these families had severe microcephaly with occipitofrontal circumference (OFC) beyond 3 standard deviations below the mean for age. In addition, functional studies showed that the variant is associated with a decreased amount of F-actin in cells from two affected individuals.\r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #620141) and Gene2Phenotype (ARPC4-related microcephaly and developmental delay with 'strong' rating in the DD panel).",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:43:07.492200Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.14",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35047857; Phenotypes: Developmental delay, language impairment, and ocular abnormalities, OMIM:620141, microcephaly, MONDO:0001149; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2023-05-30T11:34:04.360850Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: COASY were set to 30089828; 24360804; 27892483",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2023-05-22T15:15:43.661749Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability - microarray and sequencing v5.151",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-05-22T15:15:43.583770Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: INTS11 was added\ngene: INTS11 was added to Severe microcephaly. Sources: Expert Review Amber,Literature\nQ2_23_promote_green tags were added to gene: INTS11.\nMode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS11 were set to 37054711\nPhenotypes for gene: INTS11 were set to Complex neurodevelopmental disorder, MONDO:0100038",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-05-17T11:39:53.573151Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from MPD; microcephalic primordial dwarfism; Bloom syndrome, 210900; microcephaly to Bloom syndrome, OMIM:210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2023-05-16T17:47:38.234213Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: LHX2.",
"entity_name": "LHX2",
"entity_type": "gene"
},
{
"created": "2023-05-16T17:47:20.572628Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37057675 reports 17 predominanly de novo LHX2 variants in a panel of patients with a variable neurodevelopmental disorder. Haploinsufficiency and functional studies are supportive of a loss-of-function pathogenic action of the reported LHX2 variants. \nSources: Literature; to: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37057675 reports 17 predominantly de novo LHX2 variants in a panel of patients with a variable neurodevelopmental disorder. Haploinsufficiency and functional studies are supportive of a loss-of-function pathogenic action of the reported LHX2 variants. \r\nSeven out of the ten cases reported in table 1 (PMID: 37057675) are listed as having microcephaly, however, due to lack of clinical information, these cases cannot be classified as severe (personal communication with the author, Christiane Zweier). \r\nSources: Literature",
"entity_name": "LHX2",
"entity_type": "gene"
},
{
"created": "2023-05-16T17:34:50.347751Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "LHX2",
"entity_type": "gene"
},
{
"created": "2023-05-16T17:34:42.610337Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: LHX2: Changed rating: AMBER",
"entity_name": "LHX2",
"entity_type": "gene"
},
{
"created": "2023-05-16T17:34:18.806065Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Intellectual disability - microarray and sequencing v5.124",
"entity_name": "LHX2",
"entity_type": "gene"
},
{
"created": "2023-05-16T17:34:18.757675Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: LHX2 was added\ngene: LHX2 was added to Severe microcephaly. Sources: Literature,Expert Review Amber\nQ2_23_promote_green tags were added to gene: LHX2.\nMode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LHX2 were set to 37057675\nPhenotypes for gene: LHX2 were set to neurodevelopmental disorder",
"entity_name": "LHX2",
"entity_type": "gene"
},
{
"created": "2023-05-11T15:36:08.012965Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: COASY were changed from Pontocerebellar hypoplasia, type 12 OMIM:618266 to Pontocerebellar hypoplasia, type 12, OMIM:618266; pontocerebellar hypoplasia, type 12, MONDO:0032643",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:15:54.519152Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: There are sufficient unrelated cases with different homozygous variants in this gene and a consistent phenotype to support a gene-disease association. Some features such as microcephaly and digit malformations may plausibly be detected prenatally and therefore suggesting this gene is rated Green at the next GMS panel update.; to: Comment on list classification: There are sufficient unrelated cases with different homozygous variants in this gene and a consistent phenotype to support a gene-disease association. Progressive microcephaly (head circumference, 2 to 5.9 SD below the mean) was seen in all affected patients for whom data were available. Therefore suggesting this gene is rated Green at the next GMS panel update.",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:12:29.083009Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Fetal anomalies v3.77",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2023-05-09T14:12:29.028433Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: WLS was added\ngene: WLS was added to Severe microcephaly. Sources: Literature,Expert Review Amber\nQ2_23_promote_green tags were added to gene: WLS.\nMode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WLS were set to 34587386\nPhenotypes for gene: WLS were set to Zaki syndrome, OMIM:619648",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2023-04-12T16:35:52.304080Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NAPB were changed from Early infantile epileptic encephalopathy to Developmental and epileptic encephalopathy 107, OMIM:620033",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2023-04-11T19:52:36.663799Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_promote_green tag was added to gene: TRAPPC10.",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-04-11T19:52:13.011415Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: TRAPPC10 as Amber List (moderate evidence)",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-04-11T19:52:13.008207Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence available for associating this gene with severe microcephaly (two unrelated cases and supporting functional evidence) and hence can be promoted to GREEN at the next major review.",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-04-11T19:52:12.988108Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: trappc10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-04-11T19:50:26.735359Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Biallelic variants in TRAPPC10 have been identified in two unrelated consanguineous Pakistani families that have been reported with severe microcephalic neurodevelopmental disorder. In addition, neuroanatomical brain defects and microcephaly, paralleling findings seen in the human patients were seen in Trappc9-/- mouse model.\r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #620027) and Gene2Phenotype (with 'limited' rating).; to: Biallelic variants in TRAPPC10 have been identified in two unrelated consanguineous Pakistani families that have been reported with severe microcephalic neurodevelopmental disorder. In addition, neuroanatomical brain defects and microcephaly (paralleling findings seen in the human patients) were seen in Trappc9-/- mouse model.\r\n\r\nThis gene has been associated with relevant phenotypes in both OMIM (MIM #620027) and Gene2Phenotype (with 'limited' rating).",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-04-11T19:49:10.888922Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC10 were changed from microcephaly (disease), MONDO:0001149; Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-04-11T19:48:43.795911Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC10 were changed from microcephaly (disease), MONDO:0001149 to microcephaly (disease), MONDO:0001149; Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-04-11T19:48:25.792188Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: TRAPPC10 were set to 30167849",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-04-11T19:47:59.804538Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30167849, 35298461; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-04-04T15:18:10.815078Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: MED11: Changed rating: AMBER",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-04T15:17:54.842242Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: MED11.",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-04T14:58:54.006354Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: MED11 as Amber List (moderate evidence)",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-04T14:58:54.003261Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be amber on the Severe microcephaly panel.",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-04T14:58:53.981517Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: med11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-04T14:45:32.550222Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: MED11 was added\ngene: MED11 was added to Severe microcephaly. Sources: Literature\nQ2_23_promote_green tags were added to gene: MED11.\nMode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED11 were set to 36001086\nPhenotypes for gene: MED11 were set to MED11-associated neurodevelopmental disorder\nReview for gene: MED11 was set to GREEN\nAdded comment: Not associated with a phenotype in OMIM, but is associated with MED11-associated neurodevelopmental disorder in Gen2Phen. PMID: 36001086 reports a single MED11 variant (NM_001001683.4: c.325C>T, p.Arg109*), that segregates with the condition in five unrelated families, however, there is homozygosity between two of these families, idicating that they may be related. Global delay was observed in three individuals from three unrelated familes and seizures were evident in four individuals from four unrelated families. Severe microcephaly was apparent in the two unrelated familes where this parameter was recorded. Overall, the MED11-associated neurodevelopmental disorder appeared to result in profound effects and proved fatal at birth and 10 days in two of the cases reported. \nSources: Literature",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-03-22T18:25:01.946982Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.1",
"user_name": "Aleš Maver",
"item_type": "entity",
"text": "edited their review of gene: TRAPPC10: Added comment: The study on biallelic TRAPPC10 variants in microcephaly has now been published in PMID: 35298461, reporting 8 individuals with a homozygous loss-of function variant in one family and two affected individuals from the second, unrelated family.; Changed publications to: PMID: 30167849, PMID: 35298461; Changed phenotypes to: Microcephaly, short stature, developmental delay",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2023-03-22T16:20:42.626776Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 4.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T16:20:05.584146Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 4.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-14T21:47:31.355532Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: ATP9A were changed from Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms; Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2023-03-07T12:34:28.671828Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SARS were changed from ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 to Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-03-07T12:34:15.227265Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SARS were set to 28236339; 34570399",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-03-07T12:34:05.860314Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SARS as Amber List (moderate evidence)",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-03-07T12:34:05.856636Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least three unrelated cases with biallelic variants in this gene - microcephaly detected in all families. Although severity only reaches threshold for this panel in two families, given the extent in these cases and the consistent presentation this feature, this gene should be included on R88.",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-03-07T12:34:05.838358Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: sars has been classified as Amber List (Moderate Evidence).",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-03-07T12:14:34.427278Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: SARS.\nTag Q1_23_promote_green tag was added to gene: SARS.",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-03-07T12:13:31.085704Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 35790048; Phenotypes: Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-02-23T12:41:36.403225Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Genetic epilepsy syndromes v3.67",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2023-02-23T12:41:36.363461Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: NUP214 was added\ngene: NUP214 was added to Severe microcephaly. Sources: Expert list,Expert Review Amber\nQ1_23_promote_green tags were added to gene: NUP214.\nMode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP214 were set to 31178128; 30758658\nPhenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2023-02-08T13:24:27.383774Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: SPATA5L1.",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-02-07T15:19:41.716202Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: HMGB1.",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2023-02-07T15:18:12.227439Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: GINS3.",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2023-02-07T15:10:11.298608Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: DROSHA.",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2023-02-07T10:08:50.273907Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on Region: ISCA-37408-Loss",
"entity_name": "ISCA-37408-Loss",
"entity_type": "region"
},
{
"created": "2023-02-07T10:08:12.360355Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37408-Loss were changed from PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect to Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies",
"entity_name": "ISCA-37408-Loss",
"entity_type": "region"
},
{
"created": "2023-02-02T15:23:42.884942Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed Region: ISCA-46742-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ISCA-46742-Loss",
"entity_type": "region"
},
{
"created": "2023-02-02T12:29:22.434788Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Region: ISCA-46742-Loss was added\nRegion: ISCA-46742-Loss was added to Severe microcephaly. Sources: Expert Review Green,ClinGen\nMode of inheritance for Region: ISCA-46742-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-46742-Loss were set to 27633570; 32562408; 29274487; 29220674",
"entity_name": "ISCA-46742-Loss",
"entity_type": "region"
},
{
"created": "2023-02-01T15:07:43.244594Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: HHAT.",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:06:37.434532Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_22_rating was removed from gene: SPATA5L1.",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:06:30.446091Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: PRIM1.",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:06:23.602899Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: NCAPD3.\nTag Q2_22_NHS_review was removed from gene: NCAPD3.",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:06:13.932174Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: NAPB.\nTag Q2_22_NHS_review was removed from gene: NAPB.",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:05:55.444975Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: HHAT: Changed rating: GREEN",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:05:50.341784Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:04:39.692223Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: DROSHA.",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:04:15.863282Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_22_rating was removed from gene: CCND2.",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:04:01.737076Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: CCND2: Changed rating: GREEN",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:03:51.186200Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:03:00.901867Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: TUBG1.\nTag Q3_22_NHS_review was removed from gene: TUBG1.",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:02:51.465390Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: SLC38A3.",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:02:40.498867Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: NSRP1.",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:02:24.791122Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: HMGB1.",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:02:14.663877Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: GINS3.",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:02:06.226185Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: CHKA.\nTag Q3_22_MOI was removed from gene: CHKA.",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:01:56.449016Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: ATP6V0A1.",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.837346Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.821434Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PRIM1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.807978Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: NCAPD3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.795421Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: NAPB: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.785069Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: HHAT",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.771156Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: DROSHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.757341Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: CCND2",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.740112Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: TUBG1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.729170Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.713400Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: NSRP1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.700737Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: HMGB1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.689902Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: GINS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.674155Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:48.654804Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:13.827942Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to TUBG1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:13.726468Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to SPATA5L1.\nSource NHS GMS was added to SPATA5L1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:13.606484Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC38A3.\nSource NHS GMS was added to SLC38A3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:13.479600Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to PRIM1.\nSource NHS GMS was added to PRIM1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:13.287628Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to NSRP1.\nSource NHS GMS was added to NSRP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:12.994737Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to NCAPD3.\nSource NHS GMS was added to NCAPD3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:12.813532Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to NAPB.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:12.307082Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to HMGB1.\nSource NHS GMS was added to HMGB1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:12.181270Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to HHAT.\nSource NHS GMS was added to HHAT.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:12.066416Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to GINS3.\nSource NHS GMS was added to GINS3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:11.948246Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to DROSHA.\nSource NHS GMS was added to DROSHA.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:11.834883Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to CHKA.\nSource NHS GMS was added to CHKA.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:11.717400Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to CCND2.\nSource NHS GMS was added to CCND2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2023-02-01T15:00:11.590794Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to ATP6V0A1.\nSource NHS GMS was added to ATP6V0A1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2022-12-19T16:29:21.946086Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CASK were set to ",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-12-12T22:46:16.242100Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: TPR was added\ngene: TPR was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPR were set to 34494102\nPhenotypes for gene: TPR were set to Microcephaly, MONDO:0001149\nReview for gene: TPR was set to RED\nAdded comment: Comment on classification of this gene: This gene should be added with a RED rating as the association of TPR to microcephaly is based on biallelic variants identified from a report of two siblings.\r\n\r\nTwo siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. The occipitofrontal circumference (OFC) was at 3rd centile for individual 1 and at 10th centile for individual 2 and dropped to below 1st centile at eight months and five months respectively.\r\n\r\nFunctional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution.\r\n\r\nThis gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:55:06.790997Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.1",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:54:32.729732Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "3.0",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-21T16:57:34.854678Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.322",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: PRIM1",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-11-21T16:55:46.215824Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.322",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Microcephalic primordial dwarfism, MONDO:0017950; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-11-21T16:55:34.603780Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.321",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked was removed from gene: PRIM1.",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-11-07T12:14:19.830274Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.321",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CTNNB1 were set to 25326669; 26968164",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2022-11-07T11:26:57.175493Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.320",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CTNNB1 were changed from primary microcephaly; Mental retardation, autosomal dominant 19, 615075 to Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2022-10-06T22:53:59.764417Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.319",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_22_rating was removed from gene: DOHH.\nTag Q4_22_promote_green tag was added to gene: DOHH.",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:16:00.684820Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.319",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: DPP6",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:13:53.367782Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.319",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: DPP6.",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2022-09-29T14:53:28.047558Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.319",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: DOHH as Amber List (moderate evidence)",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-09-29T14:53:28.044050Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.319",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-09-29T14:53:28.025410Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.319",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: dohh has been classified as Amber List (Moderate Evidence).",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-09-29T14:52:55.283103Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.318",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1731",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-09-29T14:52:55.214807Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.318",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: DOHH was added\ngene: DOHH was added to Severe microcephaly. Sources: Literature\nQ4_22_rating, Q4_22_MOI tags were added to gene: DOHH.\nMode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOHH were set to 35858628\nPhenotypes for gene: DOHH were set to DOHH associated neurodevelopmental disorder",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-09-08T08:55:56.559287Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.317",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Associated with relevant phenotype in OMIM and as moderate Gen2Phen gene for CPSF3-associated neurodevelopmental disorder with seizures and microcephaly. PMID: 35121750 reports two CPSF3 variants in cases, c.1403G>A, p.Gly468Glu (NM_016207.3) in two Icelandic families and c.1061T>C, p.Ile354Thr (NM_016207.3) in a large consanguineous Mexican family. Intellectual disabililty was evident in all 8/8 cases and seizures and microcephaly was apparent 7/8 cases (PMID: 35121750).; to: Associated with relevant phenotype in OMIM and as moderate Gen2Phen gene for CPSF3-associated neurodevelopmental disorder with seizures and microcephaly. PMID: 35121750 reports two CPSF3 variants in cases, c.1403G>A, p.Gly468Glu (NM_016207.3) in two Icelandic families and c.1061T>C, p.Ile354Thr (NM_016207.3) in a large consanguineous Mexican family. Intellectual disabililty was evident in all 8/8 cases and seizures and microcephaly was apparent 7/8 cases (PMID: 35121750).\r\nThe rating of this gene could be changed to green, if further disease associated variants are identified or supportive functional studies are reported.",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-08-23T16:40:18.128842Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.317",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Genetic epilepsy syndromes v2.575",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-08-23T16:40:18.078614Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.317",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CPSF3 was added\ngene: CPSF3 was added to Severe microcephaly. Sources: Literature,Expert Review Amber\nMode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPSF3 were set to 35121750\nPhenotypes for gene: CPSF3 were set to Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876\nPenetrance for gene: CPSF3 were set to Complete",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-08-23T13:17:45.770862Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.316",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: CHKA.\nTag Q3_22_MOI tag was added to gene: CHKA.",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-08-23T13:02:13.149382Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.316",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Genetic epilepsy syndromes v2.573",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-08-23T13:02:13.109463Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.316",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CHKA was added\ngene: CHKA was added to Severe microcephaly. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: CHKA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHKA were set to 35202461\nPhenotypes for gene: CHKA were set to Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature\nPenetrance for gene: CHKA were set to Complete",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-08-03T12:07:43.745962Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.315",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "changed review comment from: New gene added by Konstantinos Varvagiannis. There is sufficient evidence to promote to Green at the next GMS panel update.\r\nGene phenotype relationship captured by OMIM, G2P and PanelApp Australia. \r\nMarafi et al PMID: 34605855 describes 7 families accounting for 10 individuals all with ID or global DD; to: New gene added by Konstantinos Varvagiannis. There is sufficient evidence to promote to Green at the next GMS panel update.\r\nGene phenotype relationship captured by OMIM, G2P and PanelApp Australia. \r\nMarafi et al PMID: 34605855 describes 7 families accounting for 10 individuals. 8/10 reported to have Microcephaly and and was more commonly postnatal and/or progressive.",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-08-03T12:06:26.065903Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.315",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1650",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-08-03T12:06:26.030114Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.315",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: SLC38A3 was added\ngene: SLC38A3 was added to Severe microcephaly. Sources: Literature,Other,Expert Review Amber\nQ3_22_rating tags were added to gene: SLC38A3.\nMode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC38A3 were set to 34605855\nPhenotypes for gene: SLC38A3 were set to Developmental and epileptic encephalopathy 102, 619881\nPenetrance for gene: SLC38A3 were set to Complete",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-08-01T11:28:03.324135Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.314",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1641",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-08-01T11:28:03.284291Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.314",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: NSRP1 was added\ngene: NSRP1 was added to Severe microcephaly. Sources: Literature,Expert Review Amber\nQ3_22_rating tags were added to gene: NSRP1.\nMode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSRP1 were set to 34385670\nPhenotypes for gene: NSRP1 were set to NSRP1-associated developmental delay, epilepsy and microcephaly",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-08-01T11:00:59.537017Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.313",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1639",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2022-08-01T11:00:59.492870Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.313",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: HMGB1 was added\ngene: HMGB1 was added to Severe microcephaly. Sources: Expert Review Amber,Literature\nQ3_22_rating tags were added to gene: HMGB1.\nMode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HMGB1 were set to 34164801\nPhenotypes for gene: HMGB1 were set to Developmental delay and microcephaly",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2022-07-29T12:59:04.664534Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.312",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: GINS3.",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-29T12:58:53.370127Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.312",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: GINS3 as Amber List (moderate evidence)",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-29T12:58:53.362937Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.312",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: gins3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-29T12:58:37.586892Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.311",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Growth failure in early childhood v1.109",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-29T12:58:37.542314Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.311",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: GINS3 was added\ngene: GINS3 was added to Severe microcephaly. Sources: Literature,Expert Review Red\nMode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS3 were set to 35603789\nPhenotypes for gene: GINS3 were set to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817\nPenetrance for gene: GINS3 were set to unknown\nMode of pathogenicity for gene: GINS3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "GINS3",
"entity_type": "gene"
},
{
"created": "2022-07-29T11:03:53.066438Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.310",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: GINS2: This gene has been copied from the Growth failure panel (panel ID:473), as the Severe microcephaly panel appears to be a better fit for the phenotype. As there is only 1 reported case this gene has been given a Red rating.",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2022-07-29T11:02:41.981261Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.310",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association and other genes associated with Meier-Gorlin syndrome has been given a Red rating in this panel due to the phenotype being not fitting the scope of this panel. Therefore, this gene has been given a Red rating.; to: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association and other genes associated with Meier-Gorlin syndrome has been given a Red rating in this panel due to the phenotype being not fitting the scope of this panel. Therefore, this gene has been given a Red rating.",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2022-07-29T11:02:09.908244Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.310",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Growth failure in early childhood v1.107",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2022-07-29T11:02:09.857922Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.310",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: GINS2 was added\ngene: GINS2 was added to Severe microcephaly. Sources: Literature,Expert Review Red\nMode of inheritance for gene: GINS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS2 were set to 34353863\nPhenotypes for gene: GINS2 were set to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817\nPenetrance for gene: GINS2 were set to unknown\nMode of pathogenicity for gene: GINS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2022-07-27T09:30:14.766395Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.309",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TUBG1 were set to 23603762; 31151415",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2022-07-27T09:30:04.413084Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.308",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TUBG1 as Amber List (moderate evidence)",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2022-07-27T09:30:04.408771Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.308",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 11 patients with heterozygous variants in this gene have been reported in literature to date (PMIDs: 23603762; 24860126; 29706637; 31151415). Microcephaly is a predominant feature of the phenotype in majority of cases and severity is within the scope of this panel.",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2022-07-27T09:30:04.370769Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.308",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tubg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2022-07-27T09:21:25.329194Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.307",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, OMIM:615412",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2022-07-27T09:21:13.666414Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.306",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: TUBG1.\nTag Q3_22_NHS_review tag was added to gene: TUBG1.",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2022-06-30T13:51:14.752418Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.306",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PCDHGC4 were changed from Neurodevelopmental abnormality HP:0012759 to Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2022-06-30T13:48:35.289616Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.305",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag gene-checked was removed from gene: PCDHGC4.",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2022-06-30T13:05:01.007107Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.305",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag gene-checked was removed from gene: ZNF526.",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2022-06-30T08:37:38.534713Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.305",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: ATP6V0A1: Added comment: None of the biallelic cases reported by PMID: 34909687, exhibited microcephaly as a result of this, biallelic mode of inheritance has not been included for ATP6V0A1 on the Severe microcephaly panel.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2022-06-30T08:18:02.119528Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.305",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_22_MOI was removed from gene: ATP6V0A1.\nTag Q3_22_NHS_review was removed from gene: ATP6V0A1.",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2022-06-30T08:09:52.817391Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.305",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Genetic epilepsy syndromes v2.539",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2022-06-30T08:09:52.766350Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.305",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: ATP6V0A1 was added\ngene: ATP6V0A1 was added to Severe microcephaly. Sources: Literature,Expert Review Amber\nQ3_22_rating, Q3_22_MOI, Q3_22_NHS_review tags were added to gene: ATP6V0A1.\nMode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V0A1 were set to 30842224; 33057194; 34909687; 33833240\nPhenotypes for gene: ATP6V0A1 were set to ATP6V0A1-related developmental disorder (monoallelic)",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2022-06-24T15:38:46.072818Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.304",
"user_name": "Gavin Ryan",
"item_type": "entity",
"text": "gene: TUBG1 was added\ngene: TUBG1 was added to Severe microcephaly. Sources: NHS GMS\nMode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBG1 were set to 23603762; 31151415\nPenetrance for gene: TUBG1 were set to unknown\nMode of pathogenicity for gene: TUBG1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: TUBG1 was set to GREEN\nAdded comment: Variant has been reported in number of individuals presenting with microcephaly by Poirier et al 2013, and Yuen et al 2019. All reported variants are missense. Identified individuals through GMS presenting with microcephaly prenatally who have pathogenic variants in this gene identified postnatally. Gene now present on fetal anomalies panel. \nSources: NHS GMS",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2022-06-21T15:46:56.259804Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.304",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: HIST1H4C was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-06-21T15:46:51.739833Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.303",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: HIST1H4C were set to 28920961",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-06-21T15:46:45.311036Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.302",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:61975",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-05-24T10:11:37.208424Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.301",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Genetic epilepsy syndromes v2.526",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-24T10:11:37.136729Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.301",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: DROSHA was added\ngene: DROSHA was added to Severe microcephaly. Sources: Expert Review Amber,Literature\nlocus-type-rna-micro, Q2_22_rating tags were added to gene: DROSHA.\nMode of inheritance for gene: DROSHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DROSHA were set to 35405010\nPhenotypes for gene: DROSHA were set to Global developmental delay; Intellectual disability; Seizures; Cerebral white matter atrophy; Abnormality of the corpus callosum; Abnormality of movement; Stereotypic behavior; Abnormality of head or neck; Short foot\nPenetrance for gene: DROSHA were set to unknown\nMode of pathogenicity for gene: DROSHA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:59:19.697163Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TUBGCP2.",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:57:06.508324Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TTC5.",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:40:50.787236Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: PRIM1.",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:40:04.529706Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: PCDHGC4.",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2022-05-08T18:32:17.892420Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: SMARCA5.",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2022-05-08T18:17:48.090380Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: SVBP.",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2022-05-07T22:38:39.734374Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: METTL5.",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2022-05-07T20:24:39.148999Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: WDR37.",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2022-05-07T20:15:35.140156Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: ZNF526.",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2022-05-07T20:03:33.303505Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: HPDL.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2022-05-07T19:53:12.730692Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: FBRSL1.",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2022-04-06T15:29:11.954897Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.300",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: IGF1R were changed from Insulin-like growth factor I, resistance to 270450 to Insulin-like growth factor I, resistance to, OMIM:270450",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2022-04-06T11:47:41.100155Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.299",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: NCAPD3: Changed rating: GREEN",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T11:47:09.528637Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.299",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: NCAPD3 as Amber List (moderate evidence)",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T11:47:09.525177Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.299",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Given the discovery of a third patient in the NHS presenting a phenotype consistent with previous reports and functional studies providing a plausible disease mechanism, this gene should now be promoted to Green at the next GMS panel update to ensure detection of cases.",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T11:47:09.506672Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.299",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ncapd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T11:36:43.904876Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.298",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_rating tag was added to gene: NCAPD3.\nTag Q2_22_NHS_review tag was added to gene: NCAPD3.",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T11:32:07.026485Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.298",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NCAPD3 were changed from Microcephaly 22, primary, autosomal recessive, 617984 to Microcephaly 22, primary, autosomal recessive, OMIM:617984",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T11:26:13.598673Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.297",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Genetic epilepsy syndromes v2.506",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-04-06T11:26:13.560339Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.297",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: NAPB was added\ngene: NAPB was added to Severe microcephaly. Sources: Expert Review Amber,NHS GMS\nQ2_22_rating, Q2_22_NHS_review tags were added to gene: NAPB.\nMode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAPB were set to 28097321; 33189936; 26235277; 21040848\nPhenotypes for gene: NAPB were set to Early infantile epileptic encephalopathy\nPenetrance for gene: NAPB were set to unknown",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-04-05T09:18:34.684445Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.296",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J, 609054 to Fanconi anemia, complementation group J, OMIM:609054",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-04-04T14:20:58.563954Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.295",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1, 605724 (Microcephaly) to Fanconi anemia, complementation group D1, OMIM:605724",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-03-16T13:28:52.440624Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.294",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on Region: ISCA-37501-Loss",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T13:03:24.492549Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.294",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on Region: ISCA-37425-Gain",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2022-03-16T12:28:39.998054Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.294",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on Region: ISCA-37408-Loss",
"entity_name": "ISCA-37408-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T12:27:25.106101Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.294",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on Region: ISCA-37406-Loss",
"entity_name": "ISCA-37406-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T12:16:19.721706Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.294",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on Region: ISCA-37390-Loss",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T10:29:55.368043Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.294",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "GRCh38 position for ISCA-37425-Gain was changed from 176301975-177586960 to 176301976-177620792.\nHaploinsufficiency Score for ISCA-37425-Gain was changed from None to .\nRequired Overlap Percentage for ISCA-37425-Gain was changed from 80 to 60.",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2022-03-16T10:29:55.328899Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.294",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Triplosensitivity Score for ISCA-37390-Loss was changed from None to .\nRequired Overlap Percentage for ISCA-37390-Loss was changed from 80 to 60.",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T10:29:55.291430Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.294",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Triplosensitivity Score for ISCA-37408-Loss was changed from None to .\nRequired Overlap Percentage for ISCA-37408-Loss was changed from 80 to 60.",
"entity_name": "ISCA-37408-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T10:29:55.258808Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.294",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Triplosensitivity Score for ISCA-37501-Loss was changed from None to .\nRequired Overlap Percentage for ISCA-37501-Loss was changed from 80 to 60.",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T10:29:55.212594Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.294",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Triplosensitivity Score for ISCA-37406-Loss was changed from None to .\nRequired Overlap Percentage for ISCA-37406-Loss was changed from 80 to 60.",
"entity_name": "ISCA-37406-Loss",
"entity_type": "region"
},
{
"created": "2022-03-15T22:53:26.171336Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: DPP6.",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2022-03-10T14:06:16.881343Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_expert_review was removed from gene: CEP63.",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2022-03-10T14:03:18.596319Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: YIPF5.",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2022-03-10T14:03:02.909338Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: WDR4.",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2022-03-10T14:02:42.772724Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: WDR37.",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2022-03-10T14:01:48.556675Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: WDR11.",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-10T14:01:28.228686Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: VRK1.",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2022-03-10T14:01:03.369659Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: UNC80.",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2022-03-10T14:00:48.883788Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: UGP2.",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2022-03-10T14:00:27.475355Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: TSEN54.",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2022-03-10T14:00:09.820137Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: TSEN15.",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:59:47.892547Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: TRIO.",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:59:27.934720Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: TRAPPC9.",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:59:13.031285Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: TRAPPC6B.",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:58:56.382472Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: TP53RK.",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:58:34.510614Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: TNPO2.",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:50:33.186208Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: SMARCA5.",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:50:08.943874Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: SLC1A4.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:49:43.116869Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: RAD51.",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:49:23.502535Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: RAD50.",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:48:06.549803Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: PUS7.",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:47:36.374374Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: PUF60.",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:47:14.180767Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: PTPN23.",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:46:34.778622Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: POGZ.",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:46:14.564016Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: PCDH12.",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:45:57.320040Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: OSGEP.",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:45:38.746951Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: NUP107.",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:45:19.895869Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: MINPP1.",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:44:58.026586Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: LAGE3.",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:44:20.579705Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: HPDL.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:43:56.490772Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: HIST1H4C.",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:43:27.747308Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: GTF2E2.",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:43:05.028041Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: GPT2.",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:42:46.300736Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: FOXG1.",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:42:23.612617Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: EIF5A.",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:42:00.853905Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: EIF2S3.",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:41:46.210585Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: DYNC1I2.",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:41:26.454757Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: DPM1.",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:41:08.142974Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: DNA2.",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:40:49.616287Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: CTU2.",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:40:26.483177Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: CTCF.",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:39:57.137602Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: CSNK2A1.",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:39:38.962034Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: CHAMP1.",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:39:26.583882Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.293",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: CEP63 were changed from MCPH; primary microcephaly; ?Seckel syndrome 6, 614728; Microcephaly to MCPH; primary microcephaly; ?Seckel syndrome 6, OMIM:614728; Microcephaly",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:38:57.589075Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: CEP57.",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:38:37.293074Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: CAMK2B.",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:38:08.516669Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: BUB1B.",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:49.127379Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: BPTF.",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:28.461612Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: AARS.",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.918563Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: YIPF5",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.908753Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: WDR4",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.898750Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: WDR37",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.889289Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: WDR11",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.879604Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: VRK1",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.869817Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: UNC80",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.859141Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: UGP2",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.848901Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TSEN54",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.839197Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TSEN15",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.829437Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TRIO",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.819925Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TRAPPC9",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.810298Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TRAPPC6B",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.800687Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TP53RK",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.791128Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TNPO2",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.781785Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SMARCA5",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.772232Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SLC1A4",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.761499Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: RAD51",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.751004Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: RAD50",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.741158Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: PUS7",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.723642Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: PUF60",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.713958Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: PTPN23",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.704472Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: POGZ",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.694871Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: PCDH12",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.684986Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: OSGEP",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.674671Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: NUP107",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.664924Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: MINPP1",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.655040Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: LAGE3",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.645152Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: HPDL",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.634890Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: HIST1H4C",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.624588Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: GTF2E2",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.611851Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: GPT2",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.595513Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: FOXG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.584843Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: EIF5A",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.571439Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: EIF2S3",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.557754Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: DYNC1I2",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.542557Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: DPM1",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.526180Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: DNA2",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.506256Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CTU2",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.491658Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CTCF",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.476979Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CSNK2A1",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.457351Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CHAMP1",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.443573Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CEP63",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.430646Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CEP57",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.418414Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CAMK2B",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.403704Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: BUB1B",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.387366Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: BPTF",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:37:02.373996Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AARS",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:24.042030Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to YIPF5.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:23.919009Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to WDR4.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:23.798490Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to WDR37.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:23.680049Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to WDR11.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:23.560924Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to VRK1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:23.438180Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to UNC80.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:23.321388Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to UGP2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:23.202996Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TSEN54.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:23.082990Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TSEN15.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:22.952073Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TRIO.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:22.832887Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TRAPPC9.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:22.709885Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TRAPPC6B.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:22.580827Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TP53RK.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:22.452860Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TNPO2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:22.332748Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to SMARCA5.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:22.208854Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC1A4.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:22.088430Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to RAD51.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:21.961972Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to RAD50.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:21.841137Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to PUS7.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:21.721384Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to PUF60.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:21.602732Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to PTPN23.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:21.461826Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to POGZ.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:21.343967Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to PCDH12.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:21.222139Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to OSGEP.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:21.101355Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to NUP107.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:20.970818Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to MINPP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:20.852009Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to LAGE3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:20.734902Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to HPDL.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:20.613853Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to HIST1H4C.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:20.490975Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to GTF2E2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:20.368890Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to GPT2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:20.245493Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to FOXG1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:20.124148Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to EIF5A.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:19.979960Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to EIF2S3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:19.861348Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to DYNC1I2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:19.737100Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to DPM1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:19.600389Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNA2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:19.441898Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to CTU2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:19.321036Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to CTCF.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:19.192399Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to CSNK2A1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:19.063014Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to CHAMP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:18.938798Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Red was added to CEP63.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:18.817018Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to CEP57.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:18.700321Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to CAMK2B.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:18.578395Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to BUB1B.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:18.453984Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to BPTF.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2022-03-10T13:36:18.328602Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.291",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to AARS.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2022-03-10T12:46:23.921241Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.290",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: METTL5 were changed from Intellectual developmental disorder, autosomal recessive 72, 618665 to Intellectual developmental disorder, autosomal recessive 72, OMIM:618665",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2022-03-10T12:46:06.835524Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.289",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: METTL5.",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2022-03-10T12:45:53.128010Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.289",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: AP4S1 were set to 21620353; 25552650; 27444738",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2022-03-10T12:45:33.912276Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.288",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: AP4S1.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2022-03-10T12:45:10.287761Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.288",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: AP4M1.\nTag missense tag was added to gene: AP4M1.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2022-03-10T12:44:48.792821Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.288",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: AP4B1.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2022-03-10T12:44:33.776088Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.288",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3A were changed from Angelman syndrome 105830 to Angelman syndrome, OMIM:105830",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2022-03-10T12:44:14.781169Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.287",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: UBE3A.",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2022-03-10T12:43:49.106822Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.287",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ZNF526.",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2022-03-10T12:43:33.990500Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.287",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: SMG8.",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2022-03-10T11:51:10.547394Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.287",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: NARS.",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2022-03-10T11:50:51.731725Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.287",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: MORC2.",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2022-03-10T11:50:24.271022Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.287",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: LMNB2.",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2022-03-10T11:50:01.790057Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.287",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: LMNB1.",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2022-03-10T11:00:45.209538Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.287",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: DNMT3A.",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:59:19.499186Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.287",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF335 were changed from Microcephaly 10, primary, autosomal recessive, 615095 to Microcephaly 10, primary, autosomal recessive, OMIM:615095",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:58:32.259138Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ZNF335.",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:58:15.169303Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ATP1A2.",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:57:57.648117Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: KIF14.",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:57:34.758612Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: AP4E1.",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:57:09.967798Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: SVBP.",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:56:48.477431Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CEP55.",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:56:31.017295Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TMX2.",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:56:16.570630Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: TUBGCP2 were changed from Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:56:03.920312Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.285",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TUBGCP2.",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:55:46.274484Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.285",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TTC5.",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:55:33.276838Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.285",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: NUP188 were changed from Sandestig-Stefanova syndrome, 618804 to Sandestig-Stefanova syndrome, OMIM:618804",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:55:20.350771Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.284",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: NUP188.",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:55:07.177045Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.284",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: NCAPD2 were changed from Microcephaly 21, primary, autosomal recessive, 617983 to Microcephaly 21, primary, autosomal recessive, OMIM:617983",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:54:54.956619Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.283",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: NCAPD2.",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:54:40.955548Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.283",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: ADARB1 were changed from Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, OMIM:618862",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:54:28.394531Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ADARB1.",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:54:03.756153Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PPIL1.",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:53:45.207682Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: FBRSL1.",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:53:28.477452Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ANKLE2.",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:53:05.852566Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: COASY.\nTag for-review was removed from gene: COASY.",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:47.064309Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TRAPPC12.",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.599731Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: METTL5",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.585244Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AP4S1: Comment from NHS Genomic Medicine Service: primary presentation is ID/DD/spasticity/hypotonia: green on ID and HSP and hypotonic infant panels - not clear if severe microephaly exists in absence of these.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.573960Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AP4S1",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.558435Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AP4M1: Comment from NHS Genomic Medicine Service: primary presentation is ID/DD/spasticity/hypotonia: green on ID and HSP and hypotonic infant panels - not clear if severe microephaly exists in absence of these.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.546700Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AP4M1",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.528955Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AP4B1: Comment from NHS Genomic Medicine Service: primary presentation is ID/DD/spasticity/hypotonia: green on ID and HSP and hypotonic infant panels - not clear if severe microephaly exists in absence of these",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.517540Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AP4B1",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.503020Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: UBE3A: Comment from NHS Genomic Medicine Service: Primary presentation is ID/DD: green on ID & other panels - not clear if severe microephaly exists in absence of these other features? Microcephaly isn't listed as a key feature in Genereviews for females, ands is only present in some males (with severe epilepsy).",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.489773Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: UBE3A: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.479281Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ZNF526",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.465659Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SMG8",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.451418Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: NARS",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.437719Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: MORC2",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.422182Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: LMNB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.408471Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: LMNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.395163Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: DNMT3A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.383518Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ZNF335",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.367740Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ATP1A2",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.352863Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: KIF14",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.338138Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: AP4E1",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.323941Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SVBP",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.309126Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CEP55",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.291285Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.281572Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TUBGCP2",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.266888Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TTC5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.255713Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: NUP188",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.240892Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: NCAPD2",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.225725Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ADARB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.214960Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: PPIL1",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.201359Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: FBRSL1",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.181777Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ANKLE2",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.164023Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: COASY: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:52:17.152655Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.282",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TRAPPC12",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:51.290783Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to METTL5.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:51.191720Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to ZNF526.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:51.083253Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to SMG8.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:50.967168Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to NARS.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:50.860803Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to MORC2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:50.760497Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to LMNB2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:50.656092Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to LMNB1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:50.550928Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNMT3A.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:50.443321Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to ZNF335.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:50.341972Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to ATP1A2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:50.233592Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to KIF14.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:50.129835Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to AP4E1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:49.998027Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to SVBP.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:49.897298Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to CEP55.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:49.797928Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TMX2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:49.695145Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TUBGCP2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:49.594125Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TTC5.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:49.487070Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to NUP188.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:49.382431Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to NCAPD2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:49.280958Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to ADARB1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:49.180092Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to PPIL1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:49.067162Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to FBRSL1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:48.953361Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to ANKLE2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:48.817586Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to COASY.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2022-03-10T10:51:48.706851Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.281",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TRAPPC12.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2022-02-08T11:05:05.966548Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.280",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CCND2 were set to 34087052",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2022-02-08T11:04:52.821187Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.279",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: CCND2: Added comment: Not associated with a phenotype in OMIM, Gen2Phen. At least three terminating variants have been reported in three unrelated cases with severe microcephaly. These variants are located within the proximal region of the gene, in contrast to the previously reported megalencephaly-associated CCND2 variants, which are localized to\r\nthe terminal exon, resulting in gain of function (PMID:34087052;24705253).; Changed rating: GREEN",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2022-02-08T10:48:57.732823Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.279",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: CCND2 were changed from Microcephaly, MONDO# 0001149 to Microcephaly, MONDO:0001149",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2022-02-08T10:48:32.400255Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.278",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CCND2 as Amber List (moderate evidence)",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2022-02-08T10:48:32.397372Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.278",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2022-02-08T10:48:32.373836Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.278",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: ccnd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2022-02-08T10:47:54.024999Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.277",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_22_rating tag was added to gene: CCND2.",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2022-02-03T21:42:07.342265Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCND2 was added\ngene: CCND2 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCND2 were set to 34087052\nPhenotypes for gene: CCND2 were set to Microcephaly, MONDO# 0001149\nReview for gene: CCND2 was set to GREEN\nAdded comment: Novel phenotype of microcephaly and mild developmental delay described in three unrelated families. Variants associated with this phenotype located in the proximal region of the gene. \r\n\r\nVariants in distal region of gene associated with a reciprocal phenotype of macrocephaly/megalencephaly with severe cortical malformation. \nSources: Literature",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2022-01-20T09:33:58.154145Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.277",
"user_name": "Ronnie Wright",
"item_type": "entity",
"text": "reviewed gene: NCAPD3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2022-01-11T11:47:38.549721Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.277",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1491",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2022-01-11T11:47:38.508664Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.277",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SPATA5L1 was added\ngene: SPATA5L1 was added to Severe microcephaly. Sources: Expert Review Amber,Literature\nQ1_22_rating tags were added to gene: SPATA5L1.\nMode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5L1 were set to 34626583\nPhenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-12-17T19:17:05.786832Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.276",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: HHAT.",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-17T19:16:51.350974Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.276",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: HHAT as Amber List (moderate evidence)",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-17T19:16:51.347349Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.276",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from red to amber, with a recommendation for green rating following GMS review. 3 cases with microcephaly progressing to severe microcephaly reported.",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-17T19:16:51.329615Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.276",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: hhat has been classified as Amber List (Moderate Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-17T19:12:21.577326Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.275",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Entity copied from Skeletal dysplasia v2.161",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-17T19:12:21.545993Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.275",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: HHAT was added\ngene: HHAT was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HHAT were set to 24784881; 30912300; 33749989\nPhenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:36:33.957237Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.274",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: TP53RK: Changed rating: GREEN",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2021-12-04T02:49:32.517322Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARPC4 was added\ngene: ARPC4 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072\nPhenotypes for gene: ARPC4 were set to Microcephaly; mild motor delays; significant speech impairment\nReview for gene: ARPC4 was set to GREEN\nAdded comment: 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). 6/7 affected individuals had microcephaly. The variant was associated with a decreased amount of F-actin in cells from two affected individuals. \nSources: Literature",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2021-11-23T15:58:46.477488Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.274",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GPT2 as Amber List (moderate evidence)",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2021-11-23T15:58:46.473952Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.274",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at then next GMS panel update.",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2021-11-23T15:58:46.454670Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.274",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: gpt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2021-11-23T15:58:20.593218Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.273",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: GPT2 was added\ngene: GPT2 was added to Severe microcephaly. Sources: Literature\nQ4_21_rating tags were added to gene: GPT2.\nMode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPT2 were set to 25758935; 27601654; 29226631; 29882329; 31471722\nPhenotypes for gene: GPT2 were set to Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281\nReview for gene: GPT2 was set to GREEN\nAdded comment: Microcephaly is a prominent features of the neurodevelopmental disorder associated with biallelic variants in the GPT2 gene. Mostly all patients are to some degree microcephalic but at least 6 unrelated families (out of 11 total) have been reported with microcephaly of relevant severity to this panel (≥ -3SD). This gene is associated with a relevant phenotype in OMIM (OMIM:616281) but is not yet listed in G2P. \nSources: Literature",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2021-11-23T13:16:18.114330Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.272",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ATP9A were set to 34379057; 34764295",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-11-23T13:15:26.871441Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.271",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ATP9A: Rating: AMBER; Mode of pathogenicity: None; Publications: 27626380; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-11-23T11:42:11.054083Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.271",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ATP9A were set to 34379057",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-11-03T14:50:44.900551Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.270",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB2 were changed from Congenital microcephaly; Global developmental delay; Intellectual disability to Microcephaly 27, primary, autosomal dominant, OMIM:619180",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2021-11-03T13:58:37.910301Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.269",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB1 were changed from Congenital microcephaly; Global developmental delay; Intellectual disability; LMNB1-associated developmental disorder to Microcephaly 26, primary, autosomal dominant, OMIM:619179",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2021-11-02T16:48:50.134159Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.268",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: EIF5A were changed from Intellectual disability; microcephaly; dysmorphism to Faundes-Banka syndrome, OMIM:619376",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:02:25.496162Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.267",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_expert_review tag was added to gene: DPP6.",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2021-10-25T09:41:54.373635Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.267",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: DYNC1I2 as Amber List (moderate evidence)",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2021-10-25T09:41:54.370723Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.267",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There is sufficient evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2021-10-25T09:41:54.348671Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.267",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: dync1i2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2021-10-25T09:38:52.599395Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.266",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: DYNC1I2.",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2021-10-25T09:20:59.932230Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.266",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (probable). Patients 1, 3 and 4 (patients 3 and 4 are from the same family) from PMID:27476655 have a head circumference <-3 SD. Patient 2 has head circumference of -1.53 SD, which is not severe enough for this panel. \r\n\r\nThe patients in the 2 additional papers (PMID: 31075182 and 33154040) do have microcephaly; however, it is not clear as to what the severity is of the patients currently (only their birth head circumferences was given, which were not severe enough for this panel, and no measurements were given at later time points). \r\n\r\nTherefore, there is currently not enough evidence for a gene-disease association. This gene has been given an Amber rating.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (probable). Patients 1, 3 and 4 (patients 3 and 4 are from the same family) from PMID:27476655 have a head circumference <-3 SD. Patient 2 has head circumference of -1.53 SD, which is not severe enough for this panel. \r\n\r\nThe patients in the 2 additional papers (PMID: 31075182 and 33154040) do have microcephaly; however, it is not clear as to what the severity is of the patients currently (only their birth head circumferences were given, which were not severe enough for this panel, and no measurements were given at later time points). \r\n\r\nTherefore, there is currently not enough evidence for a gene-disease association. This gene has been given an Amber rating.",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-10-20T12:55:55.743536Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.266",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from Cornelia de Lange-like syndrome to Cornelia de Lange-like syndrome, MONDO:0016033",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-10-20T12:55:25.277892Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.265",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: BRD4 as Amber List (moderate evidence)",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-10-20T12:55:25.274956Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.265",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (probable) but not OMIM. Based on the available evidence this gene has been given an Amber rating.",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-10-20T12:55:25.254277Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.265",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: brd4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-10-20T12:54:26.514748Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.264",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: BRD4.",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-10-13T16:05:06.267848Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.264",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RAD51 as Amber List (moderate evidence)",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2021-10-13T16:05:06.264073Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.264",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 3 unrelated cases with relevant phenotype and different de novo variants. Phenotype-gene relationship listed in OMIM (MIM# 617244).",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2021-10-13T16:05:06.244508Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.264",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rad51 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2021-10-13T16:02:20.096835Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.263",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: RAD51 was added\ngene: RAD51 was added to Severe microcephaly. Sources: Literature\nQ4_21_rating tags were added to gene: RAD51.\nMode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAD51 were set to 26681308; 26253028; 30907510\nPhenotypes for gene: RAD51 were set to Fanconi anemia, complementation group R, OMIM:617244\nReview for gene: RAD51 was set to GREEN\nAdded comment: Three unrelated patients have been identified to date (PMIDs: 26681308; 26253028; 30907510) with an atypical FA phonotype involving chromosomal instability without bone marrow failure or malignancies along with private heterozygous variants (c.877G>A; c.391A>C; c.725A>G) in the RAD51 gene. Variants occurred de novo with a dominant negative effect. All three individuals presented with thumb and radial abnormalities, microcephaly, and DD/ID (third patient showed early DD but above average IQ by age 13); and two individuals also had growth retardation (probable in third case but not reported on) and hearing impairment. \nSources: Literature",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2021-10-13T13:43:53.956585Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.262",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1356",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-13T13:43:53.917586Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.262",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SARS was added\ngene: SARS was added to Severe microcephaly. Sources: Expert Review Amber,Literature\nwatchlist, new-gene-name tags were added to gene: SARS.\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 ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:40:19.034922Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.261",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1354",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:40:19.000208Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.261",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ATP6V0C was added\ngene: ATP6V0C was added to Severe microcephaly. Sources: Literature,Expert Review Amber\nwatchlist tags were added to gene: ATP6V0C.\nMode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V0C were set to 33190975; 33090716\nPhenotypes for gene: ATP6V0C were set to Epilepsy; Intellectual Disability; microcephaly",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:13:06.218162Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.260",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ATP11A as Red List (low evidence)",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:13:06.211817Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.260",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Red List (Low Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:12:56.599433Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.259",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently only 1 case and a mouse model which showed neurological deficit phenotypes (including tremors, abnormal gait, hind limb clasping and reduction in brain size. The patient was a 26 yo male born to healthy non-consanguineous Japanese parents. At birth his length was -3.3. SD and OFC was -1.3 SD. Developed epilepsy at 2 weeks followed by global developmental delay and mild hypothyroidism and cataracts.He suffered gradual lost of developmental milestones. At 18 yo, height was -4.6 SD and OFC was -4.0 SD.\r\n\r\nAs there is currently not enough evidence to support a gene-disease association, this gene has been given an Amber rating.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently only 1 case and a mouse model which showed neurological deficit phenotypes (including tremors, abnormal gait, hind limb clasping and reduction in brain size. The patient was a 26 yo male born to healthy non-consanguineous Japanese parents. At birth his length was -3.3. SD and OFC was -1.3 SD. Developed epilepsy at 2 weeks followed by global developmental delay and mild hypothyroidism and cataracts.He suffered gradual lost of developmental milestones. At 18 yo, height was -4.6 SD and OFC was -4.0 SD.\r\n\r\nAs the mouse model did not show signs of microcephaly, there is currently not enough evidence to support a gene-disease association, this gene has been given an Red rating.",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:11:40.585305Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.259",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1353",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-13T12:11:40.551588Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.259",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ATP11A was added\ngene: ATP11A was added to Severe microcephaly. Sources: Expert Review Amber,Literature\nwatchlist tags were added to gene: ATP11A.\nMode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP11A were set to 34403372\nPhenotypes for gene: ATP11A were set to Neurodevelopmental disorder",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-10-11T13:20:13.327290Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.258",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in Gene2Phenotype (probable) but not in OMIM. There is enough evidence to support a gene-disease association; however, the severity of ID in the patients described in PMID:34413497 does not fit the criteria for this panel (panel is for moderate to severe ID, patients have mild ID). Therefore, this gene has been given an Amber rating.\r\n\r\nThe OFC of patients in PMID: 34413497 ranged from -3.09 SD to -4.93 SD); to: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in Gene2Phenotype (probable) but not in OMIM. The OFC of patients in PMID: 34413497 ranged from -3.09 SD to -4.93 SD). There is enough evidence to support a gene-disease association, this gene should be rated Green at the next review.",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-10-11T13:19:34.917427Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.258",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: WDR11.\nTag Q4_21_rating tag was added to gene: WDR11.",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-10-11T13:19:07.369762Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.258",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1348",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-10-11T13:19:07.325520Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.258",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: WDR11 was added\ngene: WDR11 was added to Severe microcephaly. Sources: Expert Review Amber\nwatchlist tags were added to gene: WDR11.\nMode of inheritance for gene: WDR11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR11 were set to 26350204; 34413497\nPhenotypes for gene: WDR11 were set to Intellectual disability, MONDO:0001071; Microcephaly, MONDO:0001149; Short stature,HP:0004322\nPenetrance for gene: WDR11 were set to Complete",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-10-06T15:36:57.359132Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.257",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1332",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-10-06T15:36:57.317464Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.257",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ZNF668 was added\ngene: ZNF668 was added to Severe microcephaly. Sources: Expert Review Amber,Literature\nwatchlist tags were added to gene: ZNF668.\nMode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF668 were set to 34313816; 26633546\nPhenotypes for gene: ZNF668 were set to DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism",
"entity_name": "ZNF668",
"entity_type": "gene"
},
{
"created": "2021-10-01T14:37:21.470194Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.256",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Konstantinos Varvagiannis (Other). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.\r\n\r\nPMID: 34037727. Both patients have severe microcephaly (-7.65 to -10.35 z-score), height at 2 years (-2.65 to -3.84 z-score), seizures, hypoplastic coprus callosum, neonatal cholestasis and feeding difficulties.\r\n\r\nBased on the available evidence there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.; to: Comment on list classification: New gene added by Konstantinos Varvagiannis (Other). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.\r\n\r\nPMID: 34037727. Both patients have severe microcephaly (-7.65 to -10.35 z-score), height at 2 years (-2.65 to -3.84 z-score), seizures, hypoplastic corpus callosum, neonatal cholestasis and feeding difficulties.\r\n\r\nBased on the available evidence there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2021-10-01T14:36:26.526850Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.256",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1322",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2021-10-01T14:36:26.469906Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.256",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: VPS50 was added\ngene: VPS50 was added to Severe microcephaly. Sources: Expert Review Amber,Literature\nwatchlist tags were added to gene: VPS50.\nMode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS50 were set to 34037727\nPhenotypes for gene: VPS50 were set to Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum\nPenetrance for gene: VPS50 were set to Complete",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2021-10-01T13:45:05.177719Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.255",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: ARF3.",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-10-01T13:44:53.596011Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.255",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ARF3 as Red List (low evidence)",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-10-01T13:44:53.593180Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.255",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Amber to Red as per my review.",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-10-01T13:44:53.578728Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.255",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: arf3 has been classified as Red List (Low Evidence).",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-10-01T13:44:38.455627Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.254",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Konstantinos Varvagiannis (Other). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. \r\n\r\nPMID:34346499, individual 1 also has severe microcephaly (-3.3SD), spasticity, cerebellum atrophy and brainstem atrophy. Individual 2 does not have microcephaly, but has cerebellar hypoplasia.\r\n\r\nBased on the available evidence, there is currently not enough evidence to support a gene-disease association, therefore this gene has been given an Amber rating.; to: Comment on list classification: New gene added by Konstantinos Varvagiannis (Other). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. \r\n\r\nPMID:34346499, individual 1 also has severe microcephaly (-3.3SD), spasticity, cerebellum atrophy and brainstem atrophy. Individual 2 does not have microcephaly, but has cerebellar hypoplasia.\r\n\r\nAs only 1 patient has severe microcephaly. This gene has been given a Red rating.",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-10-01T13:44:03.391778Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.254",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1321",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-10-01T13:44:03.293103Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.254",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ARF3 was added\ngene: ARF3 was added to Severe microcephaly. Sources: Expert Review Amber,Literature\nwatchlist tags were added to gene: ARF3.\nMode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARF3 were set to 34346499\nPhenotypes for gene: ARF3 were set to Global developmental delay; Intellectual disability, MONDO:0001071; Seizures; Morphological abnormality of the central nervous system; microcephaly, MONDO:0001149\nPenetrance for gene: ARF3 were set to unknown",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2021-09-30T14:21:40.489285Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.253",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: GTF2E2 as Amber List (moderate evidence)",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-09-30T14:21:40.484854Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.253",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - two distinct homozygous variants identified in 5 individuals from 4 families who all had microcephaly among other features. Supportive in vitro studies that demonstrate functional impairment.",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-09-30T14:21:40.461596Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.253",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-09-30T14:18:37.071668Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.252",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: GTF2E2 was added\ngene: GTF2E2 was added to Severe microcephaly. Sources: Literature\nQ3_21_rating tags were added to gene: GTF2E2.\nMode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2E2 were set to 26996949; 28973399\nPhenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, OMIM:616943\nReview for gene: GTF2E2 was set to GREEN\nAdded comment: Four individuals from 3 different Moroccan families with the same homozygous variant (c.C559T) in the GTF2E2 gene have been identified, as well as an additional patient from Asian origin with a distinct homozygous variant (c.448G>C). Predominant phenotype was that of trichothiodystrophy; however, all 5 individuals also had ID/DD, microcephaly and ichthyosis - and therefore adding GTF2E2 to these relevant panel. \nSources: Literature",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-09-28T11:05:11.970074Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.251",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: PCDHGC4.",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-09-28T11:04:57.490302Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.251",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: PCDHGC4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:30:24.521117Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.251",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:29:32.490786Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.251",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:27:55.286335Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.251",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1307",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:27:55.248250Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.251",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: PCDHGC4 was added\ngene: PCDHGC4 was added to Severe microcephaly. Sources: Literature,Expert Review Amber\nQ3_21_rating tags were added to gene: PCDHGC4.\nMode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDHGC4 were set to 34244665\nPhenotypes for gene: PCDHGC4 were set to Neurodevelopmental abnormality HP:0012759",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:04:34.619420Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.250",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TNPO2 as Amber List (moderate evidence)",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:04:34.616076Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.250",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are sufficient unrelated cases presenting were a relevant phenotype associated with variants in this gene to rate as Green at the next GMS panel update.",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:04:34.582101Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.250",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tnpo2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:03:18.201274Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.249",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: TNPO2 was added\ngene: TNPO2 was added to Severe microcephaly. Sources: Literature\nQ3_21_rating tags were added to gene: TNPO2.\nMode of inheritance for gene: TNPO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TNPO2 were set to 34314705\nPhenotypes for gene: TNPO2 were set to Intellectual disability; Dysmorphic features; Microcephaly; Seizures; Hypotonia\nReview for gene: TNPO2 was set to GREEN\nAdded comment: Goodman et al., 2021 (PMID: 34314705) reported on 15 unrelated individuals with different variants in this gene (14 de novo, 1 mosaic in mother; 12 SNVs, 3 in-frame deletions, 1 deletion-insertion). All had GDD and all those who were assessed also had ID (9/9), ranging from mild to severe. ID also suspected but not investigated in another 3 cases. 6 had seizures starting between 1 and 2.5 years of age. 5 individuals had microcephaly (HC ranging -2.77 to -4.53 SD). Other less common features were also observed such as variable brain, gastrointestinal and ophthalmologic abnormalities.\r\n\r\nNotably 6 individuals had additional SNVs/CNVs of uncertain significance, some of which include known ID genes (e.g. SETBP1, CUX2, ARMC9, PDE4D), but were discounted due to lack of explanation of the overall patient phenotype.\r\n\r\nSome functional studies conducted in Drosophila demonstrated that patient-associated variants caused neurodevelopmental defects that were dosage and location (of variant within protein) dependent. \nSources: Literature",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:24:39.272503Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.248",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ARCN1 were changed from Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:11:55.122671Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.247",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (probable). Patients 1, 3 and 4 (patients 3 and 4 are from the same family) from PMID:27476655 have a head circumference <-3 SD. Patient 2 has head circumference of -1.53 SD, which is not severe enough for this panel. Therefore, there is currently not enough evidence for a gene-disease association. This gene has been given an Amber rating.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (probable). Patients 1, 3 and 4 (patients 3 and 4 are from the same family) from PMID:27476655 have a head circumference <-3 SD. Patient 2 has head circumference of -1.53 SD, which is not severe enough for this panel. \r\n\r\nThe patients in the 2 additional papers (PMID: 31075182 and 33154040) do have microcephaly; however, it is not clear as to what the severity is of the patients currently (only their birth head circumferences was given, which were not severe enough for this panel, and no measurements were given at later time points). \r\n\r\nTherefore, there is currently not enough evidence for a gene-disease association. This gene has been given an Amber rating.",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:57:16.716872Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.247",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on publications: PMID:27476655. OMIM description of the patients, \"exhibited rhizomelic short stature (4/4) as well as microcephaly (3/4), micrognathia (4/4), laxity of the small joints (3/4), and developmental delay (4/4). Other variable features included posterior cataract (1/4), cleft palate (1/4), ventricular septal defect (1/4), cryptorchidism (1/2), seizures (1/4), and autism (1/4).\"\r\n\r\nAdditional publications. PMID: 31075182 describes a 5th case with de novo loss-of-function variant in ARCN1. Head circumference at birth (prematurely after 33 + 3 weeks of pregnancy) was 27.3 cm (<3rd percentile). The publication says the patient presented with microcephaly; however, I cannot find any recent head circumference measurements (child is 23 months old). From the paper \"we report a de novo loss-of-function mutation in the delta-COP subunit of COPI, associated with microcephaly, retrognathia, muscular hypotonia, short stature, rhizomelic shortening, and transiently hypoglycosylation during febrile infections.\"\r\n\r\nPMID: 33154040; to: Comment on publications: PMID:27476655. OMIM description of the patients, \"exhibited rhizomelic short stature (4/4) as well as microcephaly (3/4), micrognathia (4/4), laxity of the small joints (3/4), and developmental delay (4/4). Other variable features included posterior cataract (1/4), cleft palate (1/4), ventricular septal defect (1/4), cryptorchidism (1/2), seizures (1/4), and autism (1/4).\"\r\n\r\nAdditional publications. PMID: 31075182 describes a 5th case with de novo loss-of-function variant in ARCN1. Head circumference at birth (prematurely after 33 + 3 weeks of pregnancy) was 27.3 cm (<3rd percentile). The publication says the patient presented with microcephaly; however, I cannot find any recent head circumference measurements (child is 23 months old). From the paper \"we report a de novo loss-of-function mutation in the delta-COP subunit of COPI, associated with microcephaly, retrognathia, muscular hypotonia, short stature, rhizomelic shortening, and transiently hypoglycosylation during febrile infections.\"\r\n\r\nPMID: 33154040 describes another case. \"3.5-yr-old Caucasian/Peruvian/Native American boy with microcephaly, severe global developmental delay, and multiple congenital abnormalities. At birth he was documented to have a small ventricular septal defect (which was closed by 3 wk), a patent foramen ovale, rhizomelic shortening of extremities on clinical examination, pectus carinatum, and underdeveloped genitalia including severe penoscrotal hypospadias and cryptorchidism.\" OFC at birth was just above 10th centile, at 3.5 yr OFC is below 3rd centile but no actual measurements were given. Microarrays identified a 95-kb loss at 12q23.2 including exons 1–4 of the NUP37 gene and exons 1–9 of the PARPBP gene, which were deemed nondiagnostic (neither parents had this deletion). A heterozygous variant was also found in HSPG2 (c.9893 C > T, p. Pro3298Leu). Biallelic variants in this gene is associated with skeletal disorders that did not fit the patient's phenotype and as the patient is heterozygous for a variant in HSPG2 it was deemed that this variant was not causative. WGS identified a de novo splice variant in ARCN1. mRNA studies showed that the variant caused retention of part of an intron in the transcript. The authors deemed the ARCN1 variant as the causative variant in this patient.",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:44:17.657845Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.247",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID:27476655. OMIM description of the patients, \"exhibited rhizomelic short stature (4/4) as well as microcephaly (3/4), micrognathia (4/4), laxity of the small joints (3/4), and developmental delay (4/4). Other variable features included posterior cataract (1/4), cleft palate (1/4), ventricular septal defect (1/4), cryptorchidism (1/2), seizures (1/4), and autism (1/4).\"\r\n\r\nAdditional publications. PMID: 31075182 describes a 5th case with de novo loss-of-function variant in ARCN1. Head circumference at birth (prematurely after 33 + 3 weeks of pregnancy) was 27.3 cm (<3rd percentile). The publication says the patient presented with microcephaly; however, I cannot find any recent head circumference measurements (child is 23 months old). From the paper \"we report a de novo loss-of-function mutation in the delta-COP subunit of COPI, associated with microcephaly, retrognathia, muscular hypotonia, short stature, rhizomelic shortening, and transiently hypoglycosylation during febrile infections.\"\r\n\r\nPMID: 33154040",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:44:17.613911Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.247",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ARCN1 were set to 27476655",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:15:53.069058Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.246",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: ARCN1.\nTag watchlist tag was added to gene: ARCN1.",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:15:42.159173Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.246",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ARCN1 as Amber List (moderate evidence)",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:15:42.155667Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.246",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (probable). Patients 1, 3 and 4 (patients 3 and 4 are from the same family) from PMID:27476655 have a head circumference <-3 SD. Patient 2 has head circumference of -1.53 SD, which is not severe enough for this panel. Therefore, there is currently not enough evidence for a gene-disease association. This gene has been given an Amber rating.",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:15:42.125923Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.246",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: arcn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:10:04.680567Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: ARCN1.",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2021-09-21T10:54:33.553192Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.245",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-09-20T14:44:58.571967Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: EIF2S3.",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-20T14:44:49.338541Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: EIF2S3 as Amber List (moderate evidence)",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-20T14:44:49.335050Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (probable). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-20T14:44:49.302799Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-20T14:43:52.054620Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2S3 were changed from MEHMO syndrome, MIM# 300148 to MEHMO syndrome, OMIM:300148",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:57:50.324377Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.242",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: HIST1H4C.",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:57:40.096961Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.242",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: HIST1H4C as Amber List (moderate evidence)",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:57:40.092876Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.242",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (possible) but not OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:57:40.070461Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.242",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: hist1h4c has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:55:36.510900Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.241",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: HIST1H4C",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:55:32.311713Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.241",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: HIST1H4C.",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:43:38.208752Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.241",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: LAGE3.",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:43:27.601662Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.241",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: LAGE3 as Amber List (moderate evidence)",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:43:27.595909Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.241",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (possible). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:43:27.549158Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.241",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: lage3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:37:12.989713Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.240",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: LAGE3 were changed from Galloway-Mowat syndrome 2, X-linked, MIM# 301006 to Galloway-Mowat syndrome 2, X-linked, OMIM:301006",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:04:20.977336Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.239",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MED17 as Amber List (moderate evidence)",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:04:20.972257Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.239",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene as been given an Amber rating as 2 out of 3 cases (PMID:20950787 is caused by founder effect) have severe microcephaly. Until further evidence is available this gene will remain as Amber.",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:04:20.934979Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.239",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: med17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:01:49.032189Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.238",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: MED17.",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-09-20T13:00:38.109921Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.238",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MED17 were changed from Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668 to Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-09-20T12:56:18.943720Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.237",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: MED17 were set to 20950787; 30345598; 26004231",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-09-16T13:07:06.833752Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.236",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: NSD2 as Amber List (moderate evidence)",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2021-09-16T13:07:06.829422Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.236",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases associated with this gene; however, the severity of microcephaly in these cases do not satisfy our criteria for severe microcephaly. Therefore, this gene has been given an Amber rating.",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2021-09-16T13:07:06.793130Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.236",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: nsd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2021-09-16T13:02:01.804285Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.235",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: NSD2 were set to 30345613; 31171569",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2021-09-16T13:01:31.095136Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.234",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NSD2 were changed from microcephaly; intellectual disability to microcephaly, MONDO:0001149",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2021-09-16T12:31:17.665274Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.233",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NUP107 were changed from Galloway-Mowat syndrome 7, MIM# 618348 to Galloway-Mowat syndrome 7, OMIM:618348",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2021-09-16T12:31:07.805415Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.232",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: NUP107 as Amber List (moderate evidence)",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2021-09-16T12:31:07.800804Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.232",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (possible). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2021-09-16T12:31:07.766548Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.232",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: nup107 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2021-09-16T12:30:21.117378Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.231",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: NUP107.",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2021-09-16T10:54:32.402127Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.231",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PCDH12 as Amber List (moderate evidence)",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2021-09-16T10:54:32.398611Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.231",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2021-09-16T10:54:32.375070Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.231",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pcdh12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2021-09-16T10:53:53.897282Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.230",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: PCDH12.",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2021-09-16T10:53:43.866962Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.230",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PCDH12 were changed from Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 to Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2021-09-15T18:12:07.584477Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.229",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: COPB2 was added\ngene: COPB2 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: COPB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPB2 were set to 29036432\nPhenotypes for gene: COPB2 were set to Microcephaly, HP:0000252\nReview for gene: COPB2 was set to RED\nAdded comment: PMID: 29036432 - DiStasio et al 2017 - report of severe microcephaly (developing to be below -4.0 SD) and severe intellectual disability in the two siblings with a COPB2 homozygous variant. \r\n\r\nThe siblings were later investigated for low bone mass in PMID: 34450031 - Marom et al 2021 (in which heterozygous variants in COPB2 in 4 other families with probands with osteoporosis and developmental delay were identified, but no microcephaly reported). \nSources: Literature",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-14T14:54:23.416602Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.228",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: OSGEP.",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2021-09-14T14:53:46.111101Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.228",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: OSGEP as Amber List (moderate evidence)",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2021-09-14T14:53:46.107198Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.228",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2021-09-14T14:53:46.077450Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.228",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: osgep has been classified as Amber List (Moderate Evidence).",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2021-09-14T14:25:54.316309Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.227",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: OSGEP were changed from Galloway-Mowat syndrome 3, MIM# 617729 to Galloway-Mowat syndrome 3, OMIM:617729",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2021-09-14T14:20:18.135913Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.226",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: VRK1.",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-09-14T14:19:58.807318Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.226",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: VRK1 as Amber List (moderate evidence)",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-09-14T14:19:58.803261Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.226",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-09-14T14:19:58.769638Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.226",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: vrk1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-09-14T14:18:08.770396Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.225",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A MIM#607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:46:18.698584Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.224",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: NUF2 as Red List (low evidence)",
"entity_name": "NUF2",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:46:18.695191Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.224",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. As there is only 1 case there is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.",
"entity_name": "NUF2",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:46:18.656331Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.224",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: nuf2 has been classified as Red List (Low Evidence).",
"entity_name": "NUF2",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:31:12.037757Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.223",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TRAPPC10 as Red List (low evidence)",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:31:12.033721Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.223",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Aleš Maver (Clinical Institute of Medical Genetics). This gene is not associated with a phenotype in OMIM, but is possibly associated with a disease in Gene2Phenotype. The affected individuals in PMID:30167849 (2 individuals from the same family) had severe ID. As I do not have access to the ESHG2021 talk, this gene has been given a Red rating until further evidence is available.",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:31:11.989347Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.223",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: trappc10 has been classified as Red List (Low Evidence).",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:29:10.176195Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.222",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC10 were changed from to microcephaly (disease), MONDO:0001149",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2021-09-13T15:18:42.959462Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.221",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TRAPPC10 were set to PMID: 30167849",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2021-08-30T09:01:04.979200Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.220",
"user_name": "Aleš Maver",
"item_type": "entity",
"text": "gene: TRAPPC10 was added\ngene: TRAPPC10 was added to Severe microcephaly. Sources: Other\nMode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC10 were set to PMID: 30167849\nPenetrance for gene: TRAPPC10 were set to Complete\nReview for gene: TRAPPC10 was set to RED\nAdded comment: This gene was originally reported in association with microcephalic NDD in PMID:30167849 (biallelic missense variant) and was replicated in a large family consanguineous family with a biallelic frameshift variant - reported at the ESHG2021 conference, talk C16.4 by Rawlins). \nSources: Other",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2021-07-13T11:20:05.255972Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.220",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Not associated with a phenotype in OMIM nor Gen2Phen. Two missense variants reported as homozygotes in one family each. In silico predictions and in vitro functional studies provide evidence that these variants will adversely affect their capacity to form a NatB complex with NAA25, and in vitro acetylation assays revealed reduced catalytic activities toward different NatB substrates (PMID 34230638). Children from these two families had developmental delay, intellectual disability (mild to moderate family 1, severe family 2).\r\nThe two children in family 1 in this study had a head circumcernces of -2.3 & -1.9 SD (which is not regarded as severe microcephaly).\r\nThe three children from family 2 this study had a head circumcernces of -3.5, -3.0 & -3.5 SD (which is regarded as severe microcephaly). Subtle dysmorphic features were also reported. \nSources: Literature; to: Not associated with a phenotype in OMIM nor Gen2Phen. Two missense variants reported as homozygotes in one family each. In silico predictions and in vitro functional studies provide evidence that these variants will adversely affect their capacity to form a NatB complex with NAA25, and in vitro acetylation assays revealed reduced catalytic activities toward different NatB substrates (PMID 34230638). Children from these two families had developmental delay, intellectual disability (mild to moderate family 1, severe family 2).\r\nThe two children in family 1 in this study had a head circumcernces of -2.3 & -1.9 SD (which is not regarded as severe microcephaly).\r\nThe three children from family 2 in this study had a head circumcernces of -3.5, -3.0 & -3.5 SD (which is regarded as severe microcephaly). Subtle dysmorphic features were also reported. \r\nSources: Literature",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2021-07-13T11:10:14.462814Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.220",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: NAA20 as Amber List (moderate evidence)",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2021-07-13T11:10:14.454267Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.220",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: naa20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2021-07-13T11:09:07.673319Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.219",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Comment on phenotypes: Currently there is not phenotype associated with this gene in OMIM, Gen2Phen or MONDO (13/07/2021).; to: Comment on phenotypes: Currently there is no phenotype associated with this gene in OMIM, Gen2Phen or MONDO (13/07/2021).",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2021-07-13T11:08:10.108313Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.219",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Currently there is not phenotype associated with this gene in OMIM, Gen2Phen or MONDO (13/07/2021).",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2021-07-13T11:08:10.089385Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.219",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NAA20 were changed from autosomal recessive developmental delay, intellectual disability, and microcephaly to autosomal recessive developmental delay, intellectual disability, and microcephaly",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2021-07-13T11:05:44.004132Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.218",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: NAA20 was added\ngene: NAA20 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAA20 were set to 34230638\nPhenotypes for gene: NAA20 were set to autosomal recessive developmental delay, intellectual disability, and microcephaly\nReview for gene: NAA20 was set to AMBER\nAdded comment: Not associated with a phenotype in OMIM nor Gen2Phen. Two missense variants reported as homozygotes in one family each. In silico predictions and in vitro functional studies provide evidence that these variants will adversely affect their capacity to form a NatB complex with NAA25, and in vitro acetylation assays revealed reduced catalytic activities toward different NatB substrates (PMID 34230638). Children from these two families had developmental delay, intellectual disability (mild to moderate family 1, severe family 2).\r\nThe two children in family 1 in this study had a head circumcernces of -2.3 & -1.9 SD (which is not regarded as severe microcephaly).\r\nThe three children from family 2 this study had a head circumcernces of -3.5, -3.0 & -3.5 SD (which is regarded as severe microcephaly). Subtle dysmorphic features were also reported. \nSources: Literature",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2021-07-09T05:34:55.898851Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUF2 was added\ngene: NUF2 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: NUF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NUF2 were set to 33721060\nPhenotypes for gene: NUF2 were set to microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect\nReview for gene: NUF2 was set to RED\nAdded comment: PMID: 33721060 - de novo missense variant identified in one male patient with microcephaly and short stature, with additional features, such as bilateral vocal cord paralysis, micrognathia and atrial septal defect. \nSources: Literature",
"entity_name": "NUF2",
"entity_type": "gene"
},
{
"created": "2021-07-08T16:17:21.276579Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.217",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Not associated with any phenotype in OMIM. \r\n\r\nPMID: 29386386 - Pierce et al 2018 - report a 13 yo female with a de novo RING1 p.R95Q variant and syndromic neurodevelopmental disabilities. Head circumference at birth was -4.9 SD, and -4.2 SD at age 13. C. elegans with either the missense mutation or complete knockout of spat-3 (the suggested RING1 ortholog) were defective in monoubiquitylation of histone H2A and had defects in neuronal migration and axon guidance. \nSources: Literature; to: Not associated with any phenotype in OMIM. \r\n\r\nPMID: 29386386 - Pierce et al 2018 - report a 13 yo female with a de novo RING1 p.R95Q variant and syndromic neurodevelopmental disabilities. Head circumference at birth was -4.9 SD, and -4.2 SD at age 13 which falls into the severe microcephaly category. C. elegans with either the missense mutation or complete knockout of spat-3 (the suggested RING1 ortholog) were defective in monoubiquitylation of histone H2A and had defects in neuronal migration and axon guidance. \r\nSources: Literature",
"entity_name": "RING1",
"entity_type": "gene"
},
{
"created": "2021-07-08T16:07:22.419094Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.217",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: RING1 was added\ngene: RING1 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: RING1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RING1 were set to 29386386\nPhenotypes for gene: RING1 were set to microcephaly; intellectual disability\nReview for gene: RING1 was set to RED\nAdded comment: Not associated with any phenotype in OMIM. \r\n\r\nPMID: 29386386 - Pierce et al 2018 - report a 13 yo female with a de novo RING1 p.R95Q variant and syndromic neurodevelopmental disabilities. Head circumference at birth was -4.9 SD, and -4.2 SD at age 13. C. elegans with either the missense mutation or complete knockout of spat-3 (the suggested RING1 ortholog) were defective in monoubiquitylation of histone H2A and had defects in neuronal migration and axon guidance. \nSources: Literature",
"entity_name": "RING1",
"entity_type": "gene"
},
{
"created": "2021-07-06T15:46:43.565261Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.216",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree, postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3. \nSources: Literature; to: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree (2 mild, 1 severe), postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3. \r\nSources: Literature",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-06T15:43:42.700871Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.216",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ATP9A as Amber List (moderate evidence)",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-06T15:43:42.697389Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.216",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Amber, awaiting further cases/clinical evidence.",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-06T15:43:42.678401Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.216",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-06T15:43:02.267738Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.215",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ATP9A was added\ngene: ATP9A was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843\nPhenotypes for gene: ATP9A were set to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms\nReview for gene: ATP9A was set to AMBER\nAdded comment: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree, postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3. \nSources: Literature",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-02T10:09:35.479832Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.214",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: At least 12 individuals from 10 unrelated families described in literature. 12/13 had a variable degree of microcephaly - a sufficient number of cases (>3) had microcephaly of relevant severity to this panel. Acquired postnatally, and progressive in some cases.; to: At least 12 individuals from 10 unrelated families described in literature. 11/12 had a variable degree of microcephaly - a sufficient number of cases (>3) had microcephaly of relevant severity to this panel. Acquired postnatally, and progressive in some cases.",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-07-02T10:09:19.781038Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.214",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: At least 13 individuals from 11 unrelated families described in literature. 12/13 had a variable degree of microcephaly - a sufficient number of cases (>3) had microcephaly of relevant severity to this panel. Acquired postnatally, and progressive in some cases.; to: At least 12 individuals from 10 unrelated families described in literature. 12/13 had a variable degree of microcephaly - a sufficient number of cases (>3) had microcephaly of relevant severity to this panel. Acquired postnatally, and progressive in some cases.",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-07-01T10:35:55.687421Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.214",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: DPM1.",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-07-01T10:35:24.672499Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.214",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DPM1 were changed from Congenital disorder of glycosylation, type Ie 608799 to Congenital disorder of glycosylation, type Ie, OMIM:608799",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-07-01T10:35:15.984937Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.213",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: DPM1 were set to 16641202; 10642602; 10642597",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-07-01T10:35:00.063571Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.212",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: DPM1 as Amber List (moderate evidence)",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-07-01T10:35:00.059969Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.212",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to promote this gene to Green at the next GMS panel update.",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-07-01T10:35:00.040790Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.212",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: dpm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-07-01T10:34:13.211488Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.211",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10642597, 10642602, 15669674, 16641202, 23856421, 27481510, 28139241, 30653653; Phenotypes: Congenital disorder of glycosylation, type Ie, OMIM:608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-06-30T12:05:05.241132Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.211",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: TP53RK as Amber List (moderate evidence)",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2021-06-30T12:05:05.238431Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.211",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for green rating following GMS review. Following consultation with the Genomics England clinical team it was decided that a green recommendation would be appropriate as primary microcephaly might be the presenting feature before renal issues appear.",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2021-06-30T12:05:05.224543Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.211",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: tp53rk has been classified as Amber List (Moderate Evidence).",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2021-06-30T12:03:02.775669Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.210",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: TP53RK.",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:59:15.291712Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.210",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: TCF4 as Red List (low evidence)",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:59:15.288553Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.210",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting this gene from grey to red. After consultation with the Genomics England Clinical Team it was decided that patients with Pitt-Hopkins syndrome are more likely to be following a route for explanation of global developmental delay/intellectual disability than severe microcephaly.",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:59:15.272864Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.210",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: tcf4 has been classified as Red List (Low Evidence).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:18:44.439916Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.209",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: PTPN23 as Amber List (moderate evidence)",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:18:44.437083Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.209",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting this gene from grey to amber, but with a recommendation for a green rating following GMS review. 1 confirmed case with severe microcephaly plus several further cases of microcephaly, not all of which have the degree of severity stated. Genomics England clinician confirms proposal for green rating.",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:18:44.422235Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.209",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: ptpn23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:16:22.906848Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.208",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: PTPN23.",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2021-06-16T14:56:12.422024Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.208",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Growth failure in early childhood v1.70",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2021-06-16T14:56:12.389495Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.208",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ZPR1 was added\ngene: ZPR1 was added to Severe microcephaly. Sources: Expert Review Red,Literature\nfounder-effect tags were added to gene: ZPR1.\nMode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZPR1 were set to 29851065\nPhenotypes for gene: ZPR1 were set to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2021-06-09T15:44:13.064445Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.207",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_NHS_review was removed from gene: SMARCA5.",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-06-09T15:33:38.473535Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.207",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added and reviewed Green by Julia Baptista (RD&E NHS FT). SMARCA5 should be promoted to Green at the next GMS panel update.\r\n\r\nVariants have been associated with a variable neurodevelopmental phenotype including predominantly mild DD, short stature, and microcephaly (PMID:33980485). Regarding cognition, four probands had mild ID and one had severe ID. Although relatively mild in most patients, the number of unrelated families presenting ID is sufficient for a Green rating and inclusion on this panel should increase the likelihood of detecting cases.; to: Comment on list classification: New gene added and reviewed Green by Julia Baptista (RD&E NHS FT). SMARCA5 should be promoted to Green at the next GMS panel update.\r\n\r\nVariants have been associated with a variable neurodevelopmental phenotype including predominantly mild DD, short stature, and microcephaly (PMID:33980485). Postnatal microcephaly [HC ranging between -2.33 and -6.21 SD] was evident in 10/12 individuals, and three had a birth HC less than −2.5 SD. Overall sufficient number of unrelated families presenting microcephaly of relevant severity to warrant a Green rating on this panel.",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-06-09T15:23:37.321911Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.207",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1117",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-06-09T15:23:37.282694Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.207",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: SMARCA5 was added\ngene: SMARCA5 was added to Severe microcephaly. Sources: Literature,Expert Review Amber\nQ2_21_rating, Q2_21_NHS_review tags were added to gene: SMARCA5.\nMode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA5 were set to 33980485\nPhenotypes for gene: SMARCA5 were set to intellectual disability; postnatal microcephaly; hypotonia; failure to thrive\nPenetrance for gene: SMARCA5 were set to unknown",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-06-08T15:38:09.659170Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.206",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: SLC1A4 as Amber List (moderate evidence)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-06-08T15:38:09.656061Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.206",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Following confirmation from the Genomics England clinical team that progressive microcephaly (to the severe range) is within scope of this panel, recommending a green rating for this gene at the next review.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-06-08T15:38:09.638081Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.206",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-06-08T14:12:20.055277Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.205",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MPLKIP were changed from Trichothiodystrophy 4, nonphotosensitive, OMIM:234050; microcephaly (disease), MONDO:0001149 to microcephaly (disease), MONDO:0001149",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-06-08T14:12:07.379872Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.204",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MPLKIP as Amber List (moderate evidence)",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-06-08T14:12:07.372495Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.204",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: mplkip has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-06-08T14:12:01.552887Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.203",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MPLKIP was added\ngene: MPLKIP was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPLKIP were set to 25655951; 25290684; 26518168; 25606444; 26880286; 29421601; 30580289; 30598092; 16977596; 33043633; 33729667\nPhenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, OMIM:234050; microcephaly (disease), MONDO:0001149\nReview for gene: MPLKIP was set to AMBER\nAdded comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype. Microcephaly has been reported for 6/20 cases (2 cases <-3SD), growth retardation 15/20 and 7/20 had gonadal dysfunction. There is not enough evidence to support a gene-disease association, this gene has been given an Amber rating. \nSources: Literature",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:21:18.610655Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.202",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: PDCD6IP.",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:21:10.419953Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.202",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PDCD6IP as Amber List (moderate evidence)",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:21:10.416596Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.202",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Phenotype is relevant to this panel with a supportive animal model that recapitulates features such as microcephaly. However, additional cases required to validate pathogenicity prior to inclusion as diagnostic-grade. Therefore Rating Amber, awaiting further publications.",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:21:10.387472Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.202",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:10:42.996783Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.201",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: POGZ were set to 26942287",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:08:18.174988Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.200",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: POGZ.",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:08:07.931877Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.200",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: POGZ as Amber List (moderate evidence)",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:08:07.928867Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.200",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Microcephaly is a variable feature (reported in at least 14/31 individuals) but severity is not stated in most cases. However, this can be a presenting feature of the disorder and there are sufficient cases from unrelated families to warrant a Green rating on this panel.",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:08:07.906671Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.200",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: pogz has been classified as Amber List (Moderate Evidence).",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:24:10.452204Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.199",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: POGZ were changed from White-Sutton syndrome, MIM# 616364 to White-Sutton syndrome, OMIM:616364",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2021-06-03T11:58:26.910912Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.198",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: FOXG1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. PMID 27029630 reports 85% (23/27) of patients with FOXG1 variants have microcephaly, defined as greater than 2 SDs below the mean for age, acquired postnatally in most cases.; Changed rating: GREEN",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-06-03T11:25:02.748371Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.198",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: FOXG1 were changed from Rett syndrome, congenital variant, MIM# 613454 to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-06-03T11:20:00.469157Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.197",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-06-03T11:19:35.003831Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.196",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: FOXG1 as Amber List (moderate evidence)",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-06-03T11:19:34.998978Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.196",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-06-03T11:19:34.964404Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.196",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: foxg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-06-03T11:18:19.504232Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.195",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: FOXG1.",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-06-01T14:17:22.681305Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.195",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MCM7 as Amber List (moderate evidence)",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-01T14:17:22.677790Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.195",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (PMIDs: 33654309; 34059554). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.\r\n\r\nAs no clear phenotype correlations can be made at this time, rating as Amber in anticipation of further cases (2/3 presented severe microcephaly).",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-01T14:17:22.662580Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.195",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: mcm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-06-01T14:04:53.648393Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.194",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: MCM7 was added\ngene: MCM7 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM7 were set to 33654309; 34059554\nPhenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability\nReview for gene: MCM7 was set to AMBER\nAdded comment: MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. Currently, MCM7 is not associated with any phenotype in OMIM or G2P. \r\n\r\n- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. \r\nFunctional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.\r\n\r\n- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7. \nSources: Literature",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2021-05-27T18:14:10.430447Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.193",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: TPRKB were changed from Galloway-Mowat syndrome 5, MIM# 617731 to Galloway-Mowat syndrome 5, OMIM:617731",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2021-05-27T18:13:55.716237Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.192",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: TPRKB were set to 28805828; 30053862",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2021-05-27T18:13:44.525342Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.191",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: TPRKB as Red List (low evidence)",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2021-05-27T18:13:44.522518Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.191",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting this gene from grey to red. 2 unrelated cases reported but the degree of microcephaly is not reported, so can't confirm it is in the severe range.",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2021-05-27T18:13:44.506875Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.191",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: tprkb has been classified as Red List (Low Evidence).",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2021-05-27T18:12:41.661640Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.190",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: TPRKB: Rating: RED; Mode of pathogenicity: None; Publications: 28805828; Phenotypes: Galloway-Mowat syndrome 5, OMIM:617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2021-05-27T17:36:11.334250Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.190",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-27T17:35:22.503915Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.189",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN23 were changed from Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2021-05-26T22:01:17.621726Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.188",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: TP53RK were changed from Galloway-Mowat syndrome 4, MIM# 617730 to Galloway-Mowat syndrome 4, OMIM:617730",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2021-05-26T21:58:17.870092Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.187",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: TP53RK: Rating: RED; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4, OMIM:17730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2021-05-26T21:19:25.940862Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.187",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: TCF4 were changed from Pitt-Hopkins syndrome, MIM# 610954 to Pitt-Hopkins syndrome, OMIM:610954",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-05-26T21:19:12.926947Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.186",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: TCF4 were set to 18728071; 22934316",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-05-26T21:18:47.980278Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.185",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: TCF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 18728071, 21671391, 29318938; Phenotypes: Pitt-Hopkins syndrome OMIM:610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:55:12.305136Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.185",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: SLC1A4 as Amber List (moderate evidence)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:55:12.301784Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.185",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting this gene from grey to amber but with a recommendation for Green review, following confirmation that progressive microcephaly is within the scope of this panel. 4 different variants reported.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:55:12.281698Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.185",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:53:29.778259Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.184",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag founder-effect tag was added to gene: SLC1A4.\nTag Q2_21_rating tag was added to gene: SLC1A4.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:52:50.298500Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.184",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM:616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:31:08.788193Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.184",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: HIKESHI as Red List (low evidence)",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:31:08.784841Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.184",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Amber to Red as microcephaly is not severe enough in the patients and also only seen in Ashkenazi Jewish families.",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:31:08.765826Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.184",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: hikeshi has been classified as Red List (Low Evidence).",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:28:02.920410Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.183",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from White matter disorders and cerebral calcification - narrow panel v1.119",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2021-05-26T15:28:02.883232Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.183",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: HIKESHI was added\ngene: HIKESHI was added to Severe microcephaly. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIKESHI were set to 26545878; 28000699\nPhenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, OMIM:616881",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2021-05-20T10:28:09.272259Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.182",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: SASS6 as Amber List (moderate evidence)",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2021-05-20T10:28:09.268698Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.182",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from red to amber as now two cases reported with severe microcephaly. Pubmed search did not find further cases at this time.",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2021-05-20T10:28:09.252726Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.182",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: sass6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2021-05-20T10:27:29.697103Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.181",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: SASS6 were changed from autosomal recessive primary microcephaly (MCPH); ?Microcephaly 14, primary, autosomal recessive, 616402 to ?Microcephaly 14, primary, autosomal recessive, OMIM:616402",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2021-05-20T10:27:09.765920Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.180",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: SASS6: Changed phenotypes to: ?Microcephaly 14, primary, autosomal recessive, OMIM:616402",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2021-05-20T10:26:52.154172Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.180",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Provisionally associated with ?Microcephaly 11, primary, autosomal recessive #615414 (AR) in OMIM. \r\n\r\nPMID: 24951542 - Khan et al 2014 - large consanguineous Pakistani family with 4 patients diagnosed with autosomal recessive primary microcephaly (MCPH). Sequencing of genes following homozygosity mapping identified a homozygous missense variant in HsSAS-6 (c.185T>C, p.Ile62Thr ). Analysed unaffected individuals were either heterozygous for this variant, or had two wild type alleles. All 4 affected individuals had severe microcephaly (occipitofrontal circumference ranged from -6.63 to -19.6 SD). \r\n\r\nPMID: 30639237 - Zhang et al 2019 - report a non-consanguineous Chinese family in which two foetuses were identified with microcephaly. In the later pregnancy the foetus had a head circumference -4 SD at 24 weeks of gestation. Compound heterozygous splice variants in SASS6 were identified by WES ( c.127-13A>G and c.1867+2T>A), one inherited from each of the parents. RT-PCR confirmed the effect on splicing.; to: Provisionally associated with ?Microcephaly 14, primary, autosomal recessive #616402 (AR) in OMIM. \r\n\r\nPMID: 24951542 - Khan et al 2014 - large consanguineous Pakistani family with 4 patients diagnosed with autosomal recessive primary microcephaly (MCPH). Sequencing of genes following homozygosity mapping identified a homozygous missense variant in HsSAS-6 (c.185T>C, p.Ile62Thr ). Analysed unaffected individuals were either heterozygous for this variant, or had two wild type alleles. All 4 affected individuals had severe microcephaly (occipitofrontal circumference ranged from -6.63 to -19.6 SD). \r\n\r\nPMID: 30639237 - Zhang et al 2019 - report a non-consanguineous Chinese family in which two foetuses were identified with microcephaly. In the later pregnancy the foetus had a head circumference -4 SD at 24 weeks of gestation. Compound heterozygous splice variants in SASS6 were identified by WES ( c.127-13A>G and c.1867+2T>A), one inherited from each of the parents. RT-PCR confirmed the effect on splicing.",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2021-05-20T10:25:55.499129Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.180",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: SASS6 were set to 24951542",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2021-05-20T10:25:34.746315Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.179",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 24951542, 30639237; Phenotypes: ?Microcephaly 11, primary, autosomal recessive, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2021-05-19T17:13:03.535389Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.179",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: RUSC2 as Red List (low evidence)",
"entity_name": "RUSC2",
"entity_type": "gene"
},
{
"created": "2021-05-19T17:13:03.532529Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.179",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from grey to red. 2 families reported with homozgyous nonsense variants in RUSC2 but the microcephaly phenotype is relatively mild although progressive.",
"entity_name": "RUSC2",
"entity_type": "gene"
},
{
"created": "2021-05-19T17:13:03.517108Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.179",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: rusc2 has been classified as Red List (Low Evidence).",
"entity_name": "RUSC2",
"entity_type": "gene"
},
{
"created": "2021-05-19T17:11:58.612926Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.178",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: RUSC2: Rating: RED; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RUSC2",
"entity_type": "gene"
},
{
"created": "2021-05-19T16:48:32.618982Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.178",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: PUS7.",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2021-05-19T16:48:14.130720Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.178",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: PUS7 as Amber List (moderate evidence)",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2021-05-19T16:48:14.126365Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.178",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from grey to amber but with a recommendation for a green rating following GMS review. 4 families reported with a severe microcephaly phenotype.",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2021-05-19T16:48:14.106705Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.178",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: pus7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2021-05-19T16:47:27.484779Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.177",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: PUS7 were changed from Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM #618342 to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2021-05-19T16:47:08.179539Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.176",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30526862, 30778726, 31583274; Phenotypes: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2021-05-19T15:51:41.785203Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.176",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: PUF60 as Amber List (moderate evidence)",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-05-19T15:51:41.782065Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.176",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from grey to amber but with a recommendation for green rating at the next GMS review. 3 cases reported with heterozygous variants in PUF60 and a severe microcephaly phenotype.",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-05-19T15:51:41.763474Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.176",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: puf60 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-05-19T15:50:48.610464Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.175",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: PUF60 were changed from Verheij syndrome, MIM# 615583 to Verheij syndrome, OMIM:615583",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-05-19T15:50:34.441966Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.174",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: PUF60 were set to 28327570",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-05-19T15:50:19.970087Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.173",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: PUF60.",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-05-19T15:50:07.469199Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.173",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: None; Publications: 24140112, 27804958, 28327570, 28074499, 28471317, 32851780; Phenotypes: Verheij syndrome, OMIM:615583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-05-19T14:45:16.461865Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.173",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: CAMK2B.",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-05-19T14:44:56.921915Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.173",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CAMK2B were set to 32875707",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-05-19T14:44:46.525402Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.172",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CAMK2B as Amber List (moderate evidence)",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-05-19T14:44:46.522856Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.172",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene added to this panel and rated Green by Zornitza Stark. Variable degree of microcephaly has been reported in 9/13 individuals with CAMK2B variants (PMIDs: 29100089; 29560374; 30842224; 32875707). Severe microcephaly (HC ≤ -3 SD) is reported in at least 4 unrelated individuals. \r\n\r\nOverall sufficient cases to rate as Green on this panel. Inclusion may be particularly beneficial for cases with milder degree of DD/ID for which this gene is also Green.",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-05-19T14:44:46.500169Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.172",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: camk2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-05-19T14:16:36.716483Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.171",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, OMIM:617799",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-05-19T14:04:44.484026Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.170",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: YIPF5.",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-05-19T14:04:13.106767Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.170",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: YIPF5 as Amber List (moderate evidence)",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-05-19T14:04:13.103511Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.170",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added and rated Green by Zornitza Stark. Sufficient evidence and appropriate phenotype (all affected individuals present progressive severe microcephaly, generalised tonic clonic seizures with onset at 1 - 7 months, diabetes diagnosed at 4 weeks - 15 months, and 5/6 also had severe DD) for inclusion on this panel: 6 patients from 5 families with different YIPF5 variants identified in PMID: 33164986. Functional analysis demonstrated that YIPF5 deficiency enhances ER stress and sensitises beta-cells to ER stress-induced apoptosis.\r\n\r\nYIPF5 is also associated with a relevant phenotype in OMIM (MIM# 619278) but is not yet listed in G2P.\r\n\r\nThere is enough evidence to rate this gene as Green at the next GMS panel update.",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-05-19T14:04:13.076554Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.170",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: yipf5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-05-19T13:36:16.374006Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.169",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-05-19T13:34:34.756115Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.168",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RRP7A as Amber List (moderate evidence)",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2021-05-19T13:34:34.753042Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.168",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. PMID:33199730 report a homozygous missense variant (c.465G>C; p.Trp155Cys) in RRP7A that segregated with primary microcephaly in a consanguineous family with 10 affected individuals. Supported by animal model data. Rating Amber, awaiting further cases.",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2021-05-19T13:34:34.723870Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.168",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rrp7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:45:38.100693Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.167",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: UNC80.",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:45:26.621142Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.167",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: UNC80 as Amber List (moderate evidence)",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:45:26.618018Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.167",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene added to panel and rated Green by Zornitza Stark. Variable degrees reported but there are enough unrelated cases (>3) with sufficiently severe microcephaly and distinct UNC80 variants to rate as Green on this panel.",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:45:26.590447Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.167",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: unc80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:35:31.690489Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.166",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: UNC80 were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:28:29.731446Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.165",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: UGP2.",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:28:18.675104Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.165",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: UGP2 as Amber List (moderate evidence)",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:28:18.672381Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.165",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene added to panel and rated Green by Zornitza Stark. Sufficient evidence and appropriate phenotype (progressive microcephaly seen in all patients with available data) for inclusion on panel: 22 patients from 15 families all with the same variant identified in PMID:31820119. Therefore there is sufficient evidence to rate this gene as Green at the next GMS panel update.",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:28:18.651295Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.165",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ugp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:16:27.403046Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.164",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: UGP2 were changed from Epileptic encephalopathy; intellectual disability; microcephaly to Developmental and epileptic encephalopathy 83, OMIM:618744",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2021-05-19T10:09:10.666841Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.163",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: TSEN54.",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-05-19T10:09:01.108059Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.163",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TSEN54 as Amber List (moderate evidence)",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-05-19T10:09:01.105516Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.163",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Progressive microcephaly is a feature associated with PCH types 2 and 4. Sufficient number of unrelated cases (>3) to rate this gene as Green at the next GMS panel review.",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-05-19T10:09:01.082910Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.163",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tsen54 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-05-19T10:08:52.072954Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.162",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TSEN54 were set to 20952379; 20301773",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-05-19T09:42:57.020387Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.161",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 2A (MIM#277470) and type 4 (MIM#225753) to Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2021-05-18T12:54:58.182085Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.160",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: TSEN15.",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-05-18T12:54:50.578041Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.160",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TSEN15 as Amber List (moderate evidence)",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-05-18T12:54:50.575047Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.160",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: TSEN15 was added and rated Green by Zornitza Stark based on PMID:27392077 (Breuss et al, 2016) who report three homozygous TSEN15 variants in four individuals from three families. All affected individuals developed progressive microcephaly of relevant severity, which represented an early and main feature of the disease presentation.\r\n\r\nThere is sufficient evidence to promote this gene to Green at the next GMS panel update.",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-05-18T12:54:50.548304Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.160",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tsen15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-05-18T12:08:48.112466Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.159",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia, type 2F MIM#617026 to Pontocerebellar hypoplasia, type 2F, OMIM:617026",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2021-05-18T10:16:35.821762Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.158",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TRIO as Amber List (moderate evidence)",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2021-05-18T10:16:35.818819Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.158",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green status at the next GMS panel update - microcephaly of relevant severity to this panel is observed in at least 12 unrelated families with TRIO variants. Pathogenicity is supported by functional data and animal model.",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2021-05-18T10:16:35.757696Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.158",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: trio has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2021-05-18T10:06:31.451913Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.157",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TRIO were set to 26721934; 32109419",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2021-05-18T10:06:15.552125Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.156",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: TRIO.",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2021-05-18T09:58:50.958582Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.156",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRIO were changed from Mental retardation, autosomal dominant 44, MIM# 617061 to Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2021-05-14T10:30:00.154755Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.155",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763; 30853973",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2021-05-14T10:27:47.715709Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.154",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: TRAPPC9.",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2021-05-14T10:27:39.651309Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.154",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TRAPPC9 as Amber List (moderate evidence)",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2021-05-14T10:27:39.647954Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.154",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 32 affected individuals from 9 families have been reported worldwide. Variable degrees of microcephaly are reported in almost all subjects and there are enough unrelated cases with sufficiently severe microcephaly to include as diagnostic-grade on this panel.",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2021-05-14T10:27:39.621851Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.154",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: trappc9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2021-05-14T09:07:46.237118Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.153",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC9 were changed from Mental retardation, autosomal recessive 13, MIM# 613192 to Mental retardation, autosomal recessive 13, OMIM:613192",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2021-05-14T09:03:30.351631Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.152",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: TRAPPC6B.",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2021-05-14T09:03:16.874407Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.152",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC6B were changed from Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2021-05-14T09:01:44.654772Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.151",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TRAPPC6B as Amber List (moderate evidence)",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2021-05-14T09:01:44.652260Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.151",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 9 individuals from 5 families have been reported, all harbouring loss-of-function variants in homozygous state. Progressive microcephaly of relevant severity to this panel (HC ≤ -3 SD) was reported in 7/7 cases (clinical details limited for one family). \r\n\r\nTRAPPC6B is associated with a relevant phenotype in OMIM (MIM# 617862)",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2021-05-14T09:01:44.630500Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.151",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: trappc6b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2021-05-13T10:48:52.594468Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.150",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Associated with Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity\t#618890 in OMIM, \r\n\r\nSevere microcephaly confirmed in 2 cases, a further 3 cases with microcephaly reported. \r\n\r\nPMID:31395947 - Bend et al 2020 - 7 patients with biallelic variants in PTPN23. 2 have microcephaly noted (1 with occipito-frontal head circumference (OFC) −3SD along with severe growth restriction, in the other the degree is not noted). In a 3rd case borderline microcephaly is reported (10th percentile).\r\n\r\nPMID:29899372 - Smigiel et al 2018 - 1 patient with severe developmental delay, epilepsy, cortical blindness, hypomyelination and brain atrophy and compound heterozygous PTPN23 variants (c.1902C>G;p.(Asn634Lys), c.2974delC;p.(Leu992Tyrfs*168) identified by WES. OFC at birth was 30 cm (2 cm below 3 percentile), weight 2320 g (300 g below 3 percentile), length 52 cm (50–90 percentile), \r\n\r\nPMID: 29090338 - Sowada et al 2017- 1 patient with developmental and epileptic encephalopathy with compound heterozygous PTPN23 variants (c.3586C>T (p.Arg1196*) and c.1595C>T (p.Pro532Leu)). OFC at birth was 31 cm (− 2.6 SD) but weight was 50th and length 26th percentile. \r\n\r\nPMID: 27848944 - Trujillano et al 2017 - 1 patient with homozygous c.904A>G\tp.(M302V) variant in PTPN23 and microcephaly reported as part of the clinical phenotype. No details as to severity of the microcephaly. They classify the variant as a VUS. \r\n\r\nPMID: 25558065 - Alazami et al 2015 - 1 patient with a variant (NM_015466:c.3995G >\r\nT:p.R1332L) in PTPN23 and Global developmental delay, epilepsy and brain atrophy. Microcephaly not mentioned in publication, however in Bend et al 2020 Table 1 says this patient has progressive microcephaly.; to: Associated with Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity\t#618890 in OMIM, \r\n\r\nSevere microcephaly (OFC > 3 SD below mean) confirmed in 1 case, a further 4 cases with microcephaly reported. \r\n\r\nPMID:31395947 - Bend et al 2020 - 7 patients with biallelic variants in PTPN23. 2 have microcephaly noted (1 with occipito-frontal head circumference (OFC) −3SD along with severe growth restriction, in the other the degree is not noted). In a 3rd case borderline microcephaly is reported (10th percentile).\r\n\r\nPMID:29899372 - Smigiel et al 2018 - 1 patient with severe developmental delay, epilepsy, cortical blindness, hypomyelination and brain atrophy and compound heterozygous PTPN23 variants (c.1902C>G;p.(Asn634Lys), c.2974delC;p.(Leu992Tyrfs*168) identified by WES. OFC at birth was 30 cm (2 cm below 3 percentile), weight 2320 g (300 g below 3 percentile), length 52 cm (50–90 percentile), \r\n\r\nPMID: 29090338 - Sowada et al 2017- 1 patient with developmental and epileptic encephalopathy with compound heterozygous PTPN23 variants (c.3586C>T (p.Arg1196*) and c.1595C>T (p.Pro532Leu)). OFC at birth was 31 cm (− 2.6 SD) but weight was 50th and length 26th percentile. \r\n\r\nPMID: 27848944 - Trujillano et al 2017 - 1 patient with homozygous c.904A>G\tp.(M302V) variant in PTPN23 and microcephaly reported as part of the clinical phenotype. No details as to severity of the microcephaly. They classify the variant as a VUS. \r\n\r\nPMID: 25558065 - Alazami et al 2015 - 1 patient with a variant (NM_015466:c.3995G >\r\nT:p.R1332L) in PTPN23 and Global developmental delay, epilepsy and brain atrophy. Microcephaly not mentioned in publication, however in Bend et al 2020 Table 1 says this patient has progressive microcephaly.",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2021-05-13T10:38:56.115749Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.150",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: PTPN23: Rating: AMBER; Mode of pathogenicity: None; Publications: 31395947, 29899372, 29090338, 27848944, 25558065; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2021-05-12T10:44:24.290397Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.150",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Promoting from red to amber. 3 unrelated cases with microcephaly, but two have the same variant reported.; to: Comment on list classification: Promoting from red to amber. 3 unrelated cases with microcephaly (2 severe), but two have the same variant reported.",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2021-05-12T10:17:57.002793Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.150",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Ataxia and cerebellar anomalies - narrow panel v2.174",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2021-05-12T10:17:56.967244Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.150",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: MINPP1 was added\ngene: MINPP1 was added to Severe microcephaly. Sources: Literature,Expert Review Amber\nQ2_21_rating tags were added to gene: MINPP1.\nMode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MINPP1 were set to 33257696; 33168985\nPhenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2021-05-11T19:20:42.060189Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.149",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on publications: Previous publication entry:\r\n26307080: In a Canadian sister and brother, born of second-cousin parents, with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination, and intellectual disability, Kernohan et al. (2015) identified homozygosity for a c.1972C-T mutation in PPP1R15B (R658C);26159176: In a brother and sister from a consanguineous Algerian family with microcephaly, short stature, intellectual disability, and diabetes (MSSGM2, 616817), Abdulkarim et al. (2015) identified homozygosity for the R658C substitution.",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2021-05-11T19:20:42.049241Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.149",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: PPP1R15B were set to 26307080: In a Canadian sister and brother, born of second-cousin parents, with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination, and intellectual disability, Kernohan et al. (2015) identified homozygosity for a c.1972C-T mutation in PPP1R15B (R658C); 26159176: In a brother and sister from a consanguineous Algerian family with microcephaly, short stature, intellectual disability, and diabetes (MSSGM2, 616817), Abdulkarim et al. (2015) identified homozygosity for the R658C substitution.",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2021-05-11T19:20:04.822730Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.148",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: PPP1R15B as Amber List (moderate evidence)",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2021-05-11T19:20:04.820215Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.148",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from red to amber. 3 unrelated cases with microcephaly, but two have the same variant reported.",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2021-05-11T19:20:04.806381Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.148",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2021-05-11T18:34:58.922610Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.147",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Associated with Microcephaly, short stature, and impaired glucose metabolism 2 #616817 in OMIM. \r\n\r\nPubMed: 27640355 - Mohammad et al 2016 - report WES of 2 siblings who presented with cirrhosis and required liver transplantation at age 7 and 22 months. Compound heterozygous mutations in PPP1R15B were identified. Microcephaly was also noted in both siblings. One sibling at age 4 years had head circumference at the third percentile, the other had holoprosencephaly and head circumference was below the 3rd percentile for gestational age at birth. Compound het variants in PPP1R15B; c.63G>A (p.W21*), inherited from the father, and c.674delC (p.P225LfsX10), inherited from the mother. \r\n\r\nPubMed: 26159176 - Abdulkarim et al 2015 - report a homozygous c.1972C>T, p.R658C variant in PPP1R15B in two siblings from a consanguineous family of Algerian origin with young-onset diabetes, microcephaly, and short stature. First sibling had adult cranial perimeter: 46 cm, −4.0 SD. The sister had a similar presentation but was not available for detailed evaluation.\r\n\r\nPubMed: 26307080 - Kernohan et al 2015 - report a consanguineous family (ethnicity not stated) with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination and intellectual disability in two siblings and a homozygous c.1972G>A; p.R658C variant in PPP1R15B. First sibling had head circumference of 28.5 cm (−5.0 SD) at birth, second sibling had a head circumference of head circumference of 37 cm (−6 to −7 SD) at 15 months.; to: Associated with Microcephaly, short stature, and impaired glucose metabolism 2 #616817 in OMIM. \r\n\r\nPubMed: 27640355 - Mohammad et al 2016 - report WES of 2 siblings who presented with cirrhosis and required liver transplantation at age 7 and 22 months. Compound heterozygous mutations in PPP1R15B were identified. Microcephaly was also noted in both siblings. One sibling at age 4 years had head circumference at the third percentile, the other had holoprosencephaly and head circumference was below the 3rd percentile for gestational age at birth. Compound het variants in PPP1R15B; c.63G>A (p.W21*), inherited from the father, and c.674delC (p.P225LfsX10), inherited from the mother. \r\n\r\nPubMed: 26159176 - Abdulkarim et al 2015 - report a homozygous c.1972C>T, p.R658C variant in PPP1R15B in two siblings from a consanguineous family of Algerian origin with young-onset diabetes, microcephaly, and short stature. First sibling had adult cranial perimeter: 46 cm, −4.0 SD. The sister had a similar presentation but was not available for detailed evaluation.\r\n\r\nPubMed: 26307080 - Kernohan et al 2015 - report a consanguineous family (enrolled in Canada) with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination and intellectual disability in two siblings and a homozygous c.1972G>A; p.R658C variant in PPP1R15B. First sibling had head circumference of 28.5 cm (−5.0 SD) at birth, second sibling had a head circumference of head circumference of 37 cm (−6 to −7 SD) at 15 months.",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2021-05-11T18:34:14.279214Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.147",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R15B were changed from Microcephaly, short stature, and impaired glucose metabolism 2, 616817; MSSGM2 to Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2021-05-11T18:30:40.524710Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.146",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 27640355, 26159176, 26307080; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2021-05-06T10:55:21.972365Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.146",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: CTU2.",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2021-05-06T10:55:11.696491Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.146",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CTU2 as Amber List (moderate evidence)",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2021-05-06T10:55:11.692838Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.146",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.\r\n\r\nPMID:26633546. Affected members of all 3 families have microcephaly, facial dysmorphia and unilateral renal agenesis. 2/3 families have ambiguous genitalia; however, only 1 family had karyotyping done, which showed normal male karyotype (46 XY). 2/3 had congenital heart disease.\r\n\r\nPMID: 27480277. Same variant as PMID:26633546. Affected individuals in this extended family have similar phenotype as PMID:26633546. Patient 1: in addition to microcephaly also has renal anomalies (small kidneys) and possible ambiguous genitalia with normal XY karyotype. Patient 2: cousin of patient 1. In addition to microcephaly did not have renal anomalies and nor ambiguous genitalia. Both patients have congenital heart disease.\r\n\r\nPMID: 31301155. 5 new cases, all with microcephaly. 4/5 with renal anomalies, 2/5 with ambiguous genitalia, 4/5 congenital heart disease.\r\n\r\nThere is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2021-05-06T10:55:11.665638Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.146",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ctu2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2021-05-06T10:54:59.621264Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.145",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC1I2 were changed from Neurodevelopmental disorder with microcephaly and structural brain anomalies\t, MIM#618492 to Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2021-05-06T10:00:19.086588Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.144",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: DNA2 were set to 24389050; 31045292",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:58:26.152267Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.143",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DNA2 were changed from Seckel syndrome 8, OMIM:615807 to Seckel syndrome 8, OMIM:615807; Microcephalic primordial dwarfism, MONDO:0017950",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:53:49.676361Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.142",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: DNA2.",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:52:26.885575Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.142",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: DNA2 as Amber List (moderate evidence)",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:52:26.882333Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.142",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Red to Amber but there is sufficient evidence to promote this gene to Green at the next GMS panel update - 4 different homozygous variants identified in at least 5 unrelated families with microcephalic primordial dwarfism (PMIDs: 24389050; 31045292)",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:52:26.854554Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.142",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: dna2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:34:07.410258Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.141",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: DNA2 were set to 24389050",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:33:57.570072Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.140",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DNA2 were changed from ?Seckel syndrome 8, 615807; SCKL8 to Seckel syndrome 8, OMIM:615807",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:24:32.388427Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.139",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CTU2 were set to 26633546",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:11:52.007547Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.138",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MIM#618142) to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:07:56.096336Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CTCF as Amber List (moderate evidence)",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:07:56.090884Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ctcf has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2021-05-06T09:07:38.636179Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.136",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CTCF was added\ngene: CTCF was added to Severe microcephaly. Sources: Expert list\nQ2_21_rating tags were added to gene: CTCF.\nMode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CTCF were set to 23746550; 30893510; 28619046\nPhenotypes for gene: CTCF were set to Mental retardation, autosomal dominant 21, OMIM:615502\nReview for gene: CTCF was set to GREEN\nAdded comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. New gene added by Zornitza Stark (however, it was added under the gene symbol CTSF but should be CTCF) with the following review:\r\n\r\n\"Recommended gene rating: Green\r\nPMID: 23746550\r\n- 4 probands, 2x PTV, 1x missense, 1x 280kb deletion (all de novo)\r\n- OFCs ranges from -0.8 SD (the proband with the deletion) to -3.51 SD\r\n\r\nPMID: 30893510\r\n- 3 probands, de novo 2x PTV and 1x missense\r\n- OFCs ranges from < -2 to < -3 SD\r\n\r\nPMID: 28619046\r\n- 1x proband with de novo fs\r\n- head circumference was under 10th centle\r\nSources: Expert list\r\nCreated: 4 Sep 2020, 10:18 a.m. \r\n\r\n Mode of inheritance\r\nMONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\r\n\r\nPhenotypes\r\nMental retardation, autosomal dominant 21 (MIM#615502)\r\n\r\nPublications\r\n\r\n 23746550\r\n 30893510\r\n 28619046\r\n\r\nVariants in this GENE are reported as part of current diagnostic practice\r\nCreated: 4 Sep 2020, 10:18 a.m.\"\r\n\r\nThere is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. \nSources: Expert list",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2021-05-06T08:44:28.011374Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.135",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: CTSF: Added comment: This gene has been tagged with \"curated_removed\" as it should be CTCF not CTSF gene added to this panel.; Changed rating: RED",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2021-05-06T08:41:34.367596Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.135",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: CTSF.",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2021-05-06T07:56:31.811961Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.135",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on phenotypes: CTSF is no longer associated with Mental retardation, autosomal dominant 21, OMIM:615502 on OMIM.; to: Comment on phenotypes: CTSF is not associated with Mental retardation, autosomal dominant 21, OMIM:615502 on OMIM.",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2021-05-06T07:50:37.296865Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.135",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: CTSF is no longer associated with Mental retardation, autosomal dominant 21, OMIM:615502 on OMIM.",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2021-05-06T07:50:37.272178Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.135",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CTSF were changed from Mental retardation, autosomal dominant 21, OMIM:615502 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2021-05-06T07:49:03.478995Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.134",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CTSF were changed from Mental retardation, autosomal dominant 21 (MIM#615502) to Mental retardation, autosomal dominant 21, OMIM:615502",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:19:20.345606Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.133",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CSNK2A1 as Amber List (moderate evidence)",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:19:20.342744Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.133",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:19:20.320414Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.133",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: csnk2a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2021-05-05T15:18:32.516819Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.132",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: CSNK2A1.",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2021-05-05T14:36:46.517202Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.132",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CSNK2A1 were changed from Okur-Chung neurodevelopmental syndrome\tMIM#617062 to Okur-Chung neurodevelopmental syndrome, OMIM:617062",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2021-05-05T14:35:36.557174Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.131",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CHAMP1 as Amber List (moderate evidence)",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-05-05T14:35:36.554131Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.131",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-05-05T14:35:36.537487Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.131",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: champ1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-05-05T14:34:53.060163Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: CHAMP1.",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-05-05T14:34:27.265152Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID: 26751395 additional paper",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-05-05T14:34:27.246464Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CHAMP1 were set to 27148580; 26340335",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-05-05T14:11:46.042216Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CHAMP1 were changed from Mental retardation, autosomal dominant 40 (MIM#616579) to Mental retardation, autosomal dominant 40, OMIM:616579",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2021-05-05T14:09:56.386247Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.128",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CEP63",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2021-05-05T14:09:23.343285Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.128",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_expert_review tag was added to gene: CEP63.",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2021-05-05T13:57:56.937794Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.128",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CEP57 as Amber List (moderate evidence)",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-05-05T13:57:56.930631Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.128",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cep57 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-05-05T13:57:50.292642Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CEP57 was added\ngene: CEP57 was added to Severe microcephaly. Sources: Literature\nQ2_21_rating tags were added to gene: CEP57.\nMode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP57 were set to 24259107; 30010053; 21552266\nPhenotypes for gene: CEP57 were set to Mosaic variegated aneuploidy syndrome 2, OMIM:614114\nReview for gene: CEP57 was set to GREEN\nAdded comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are 7 reported cases (9 affected individuals) with homozygous/compound heterzygous variants in this gene (4 variants - c.520_521delGA, c.915_925dup11, c241C>T, c.697delA). Microcephaly is reported in 5/9 individuals (4 families - in 1 family with 2 affected sibs only 1 sib had microcephaly). Those with microcephaly are either compound heterozygous or homozygous for c.915_925dup11 (Mexican, Caucasian, Moroccan origin). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. \nSources: Literature",
"entity_name": "CEP57",
"entity_type": "gene"
},
{
"created": "2021-05-05T12:27:11.668624Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TRIP13 as Amber List (moderate evidence)",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-05-05T12:27:11.658563Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-05-05T12:27:04.711958Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.125",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TRIP13 was added\ngene: TRIP13 was added to Severe microcephaly. Sources: Literature\nwatchlist tags were added to gene: TRIP13.\nMode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIP13 were set to 28553959\nPhenotypes for gene: TRIP13 were set to Mosaic variegated aneuploidy syndrome 3, OMIM:617598\nReview for gene: TRIP13 was set to AMBER\nAdded comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 28553959 describes 6 probands with variants in this gene. 3/6 probands had microcephaly (2 of these probands have the same homozygous variant and may be due to a founder effect). Therefore, there is currently not enough evidence to support a gene-disease association. This gene has been rated Amber for now. \nSources: Literature",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-05-05T11:55:45.768777Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.124",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: BUB1B as Amber List (moderate evidence)",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-05-05T11:55:45.764251Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.124",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-05-05T11:55:45.729544Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.124",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: bub1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-05-05T11:55:07.650046Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.123",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: BUB1B.",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:36:17.419251Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.123",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1 (MIM#257300) to Mosaic variegated aneuploidy syndrome 1, OMIM:257300",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:33:07.076971Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.122",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: BPTF as Amber List (moderate evidence)",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:33:07.073887Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.122",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-diseas association. This gene should be rated Green at the next review.",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:33:07.014993Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.122",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: bptf has been classified as Amber List (Moderate Evidence).",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:32:23.713321Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.121",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: BPTF.",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:32:17.244842Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.121",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID:33522091 additonal paper describing 12/20 unrelated cases with microcephaly",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:32:17.225072Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.121",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: BPTF were set to 28942966",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-05-05T10:09:16.740487Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.120",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BPTF were changed from Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755 to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-05-05T09:52:57.185730Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.119",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: AARS.",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-05-05T09:51:03.098229Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.119",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: AARS as Amber List (moderate evidence)",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-05-05T09:51:03.093169Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.119",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant disorder in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-05-05T09:51:03.069123Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.119",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: aars has been classified as Amber List (Moderate Evidence).",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-05-05T09:23:52.356465Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: AARS",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-05-05T09:23:27.533420Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: AARS.",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2021-05-05T09:14:30.685065Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: WDR4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2021-05-05T09:13:42.118702Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: WDR4.",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2021-05-05T08:04:53.538466Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: WDR4 were set to 26416026; 29597095; 30079490; 29597095",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:11:27.009557Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.117",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: WDR4 were set to 26416026; 29597095",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:11:17.230050Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WDR4 were changed from MPD; microcephalic primordial dwarfism to Galloway-Mowat syndrome 6, OMIM:61834; Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618347",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:08:17.609745Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: WDR37 as Amber List (moderate evidence)",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:08:17.604917Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support this gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:08:17.570351Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: wdr37 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:06:44.280004Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: WDR37.",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:02:01.900190Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WDR37 were changed from Neurooculocardiogenitourinary syndrome MIM#618652 to Neurooculocardiogenitourinary syndrome, OMIM:618652",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2021-04-30T09:00:05.838553Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.113",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COPB1 as Amber List (moderate evidence)",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-30T09:00:05.831137Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.113",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-30T08:59:59.087118Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.112",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: COPB1 was added\ngene: COPB1 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPB1 were set to 33632302\nPhenotypes for gene: COPB1 were set to Baralle-Macken syndrome, OMIM:619255; Severe intellectual disability; Cataracts; Variable microcephaly\nAdded comment: COPB1 is associated with a relevant phenotype in OMIM (MIM# 619255) and has a 'possible' disease confidence rating for 'COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly' in Gene2Phenotype.\r\n\r\n- PMID: 33632302 (2021) - six individuals from two unrelated families with different homozygous variants in this gene. Affected patients developed cataracts, severe ID and variable microcephaly - at least 1 individual from each family with microcephaly of relevant severity to this panel (HC ≥ -3SD). Some supportive functional data. \r\n\r\nRating Amber, awaiting further cases. \nSources: Literature",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:57:09.011746Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.111",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: PRIM1: Changed rating: GREEN",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:57:02.644548Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.111",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PRIM1 as Amber List (moderate evidence)",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:57:02.640710Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.111",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Following discussion with Helen Brittain (Genomics England Clinical Team) it was agreed that there is sufficient evidence to rate this gene Green at the next review",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:57:02.621428Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.111",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:56:03.064013Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: PRIM1.\nTag Q2_21_rating tag was added to gene: PRIM1.",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-06T13:43:49.856427Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: EIF5A as Amber List (moderate evidence)",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2021-04-06T13:43:49.846480Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: eif5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2021-04-06T13:43:41.041658Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.109",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: EIF5A was added\ngene: EIF5A was added to Severe microcephaly. Sources: Literature\nQ2_21_rating tags were added to gene: EIF5A.\nMode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF5A were set to 33547280\nPhenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism\nReview for gene: EIF5A was set to GREEN\nAdded comment: EIF5A is currently not associated with any phenotype in OMIM (last edited on 18/07/2019), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'EIF5A-related craniofacial-neurodevelopmental disorder'\r\n\r\n- PMID: 33547280 (2021) reports 7 unrelated individuals with different de novo heterozygous variants in the EIF5A gene. Microcephaly was evident at birth in 3/5 individuals, and assessments in later life indicated microcephaly in 5/7 cases (HC ranging between -1.94 and -7.47 SD). Other features include DD/ID and craniofacial dysmorphism, including micrognathia. Supportive functional data included.\r\n\r\nOverall sufficient (>3) unrelated cases of microcephaly in patients with EIF5A variants, for inclusion on this panel. \nSources: Literature",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2021-04-01T15:51:10.055606Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.108",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, 613078 to Nijmegen breakage syndrome-like disorder, OMIM:613078",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-01T15:50:56.658659Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.107",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: RAD50 were set to 1887849; 19409520; 32212377",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-01T15:48:36.209307Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.106",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RAD50 as Amber List (moderate evidence)",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-01T15:48:36.205417Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.106",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are now a total of 3 unrelated cases (PMIDs: 19409520; 32212377; 33378670) with a RAD50‐related syndrome including microcephaly. This therefore reaches the threshold for promotion of this gene to Green status at the next review (removed 'watchlist' tag and added 'Q2_21_rating' tag)",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-01T15:48:36.185665Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.106",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-01T15:40:54.325232Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.105",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: RAD50.\nTag Q2_21_rating tag was added to gene: RAD50.",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-04-01T15:40:01.332047Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.105",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: RAD50: Added comment: - PMID: 33378670 (2020) - single patient described with bone marrow failure, immunodeficiency and developmental defects (including microcephaly), who was compound heterozygous for a frameshift and premature stop codon (c.2165dup; p.Glu723Glyfs∗5 - maternally inherited) and in-frame deletion (c.3109_3111del; p.Glu1035del - de novo) in the RAD50 gene.\r\nFunctional characterisation using patient-derived fibroblasts indicated defects in DNA replication, DNA repair, and DNA end resection; however, ATM-dependent DNA damage response remained intact. Studies in yeast modelling the variant corresponding to p.Glu1035del produced defects in both DNA repair and Tel1ATM-dependent signalling following thermal activation.; Changed rating: GREEN; Changed publications: 19409520, 32212377, 33378670; Changed phenotypes: Nijmegen breakage syndrome-like disorder, OMIM:613078; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:24:36.043865Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.105",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: PRIM1 was added\ngene: PRIM1 was added to Severe microcephaly. Sources: Literature\nwatchlist tags were added to gene: PRIM1.\nMode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRIM1 were set to 33060134\nPhenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950\nReview for gene: PRIM1 was set to AMBER\nAdded comment: PRIM1 is currently not associated with any phenotype in OMIM (last edited in 2004) or Gene2Phenotype. \r\n\r\n- PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \nSources: Literature",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:23:42.948156Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.104",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PPP1R35 as Red List (low evidence)",
"entity_name": "PPP1R35",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:23:42.944758Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.104",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating this gene as Red, but with a watchlist tag, until more evidence is available.",
"entity_name": "PPP1R35",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:23:42.919088Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.104",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ppp1r35 has been classified as Red List (Low Evidence).",
"entity_name": "PPP1R35",
"entity_type": "gene"
},
{
"created": "2021-03-25T15:23:22.366287Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.103",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: PPP1R35 was added\ngene: PPP1R35 was added to Severe microcephaly. Sources: Other\nwatchlist tags were added to gene: PPP1R35.\nMode of inheritance for gene: PPP1R35 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPP1R35 were set to Primary microcephaly\nAdded comment: Conference poster (Genomics of Rare Disease 2021) - 'Biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly' by Dawood et al, Baylor College of Medicine -\r\n\r\nProband from a Turkish consanguineous family with primary microcephaly (-4.3 SD at birth, -6.1 SD by 42 months) and GDD. Brain imaging showed thinning of corpus collosum, mild cerebellar volume loss, increased extra-axial CSF spaces, pachygyria, dysmorphic ventricular system and delayed myelination of the internal capsule. Exome sequencing revealed a biallelic frameshifting indel in the PPP1R35 gene (c.753_*3delGGAAGCGTAGACCinsCG; p.Trp251Cysfs*22), resulting in deletion of the canonical stop codon in the last exon. Sequencing of unaffected parents and 2 unaffected sibs confirmed segregation with the phenotype. Droplet digital PCR demonstrated expression of mutant mRNA, with comparable gene expression levels observed for mutant and wild-type alleles in fibroblasts. \r\n\r\nAuthors note a second Iranian consanguineous family in literature with two sibs with microcephaly and the same, p.Trp251Cysfs*22 variant - however, this paper could not be found in PubMed. \nSources: Other",
"entity_name": "PPP1R35",
"entity_type": "gene"
},
{
"created": "2021-02-26T10:00:15.305236Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Added new-gene-name tag, new approved HGNC gene symbol for C7orf43 is MAP11; to: Added new-gene-name tag, new approved HGNC gene symbol for C7orf43 is TRAPPC14",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2021-02-09T16:38:26.344889Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: HPDL was added to this panel following with clinical feedback from Helen Brittain (Genomics England Clinical Team). There is enough evidence for this gene to be rated Green at the next major review.; to: Comment on list classification: HPDL was added to this panel following clinical feedback from Helen Brittain (Genomics England Clinical Team). There is enough evidence for this gene to be rated Green at the next major review.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-09T16:29:21.544771Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: HPDL as Amber List (moderate evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-09T16:29:21.540349Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: HPDL was added to this panel following with clinical feedback from Helen Brittain (Genomics England Clinical Team). There is enough evidence for this gene to be rated Green at the next major review.",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-09T16:29:21.517776Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Amber List (Moderate Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-09T16:25:55.143874Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.101",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: HPDL was added\ngene: HPDL was added to Severe microcephaly. Sources: Literature\nQ2_21_rating tags were added to gene: HPDL.\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to 32707086; 33188300\nPhenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613\nReview for gene: HPDL was set to GREEN\nAdded comment: Associated with relevant phenotype in OMIM and has a 'probable' disease confidence for 'HPDL Neurodegenerative Disease' in Gene2Phenotype.\r\n\r\nAt least 34 cases from 21 unrelated families with a paediatric-onset spastic movement disorder and biallelic variants in this gene (PMIDs: 32707086 and 33188300). There is broad clinical variability ranging from severe, neonatal-onset neurodevelopmental delay with neuroimaging findings resembling mitochondrial encephalopathy to milder manifestation of adolescent-onset, isolated HSP. Microcephaly of relevant severity (HC ≤ 3 SD) was observed in 13/30 cases.\r\n\r\nSupportive functional studies were reported, including localization of HPDL protein to the mitochondria and muscle fibre abnormalities and a KO mouse model displaying features of seizures, early lethality, smaller brain sizes, and cellular apoptosis. \nSources: Literature",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2021-02-03T12:05:20.000296Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.100",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: PRUNE1 were set to Brain 2017 awx014. doi: 10.1093/brain/awx014",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-03T12:04:55.856207Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.99",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: PRUNE1 were changed from microcephaly, spasticity, developmental delay to microcephaly, spasticity, developmental delay; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481; neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-03T12:04:35.038735Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.98",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: PRUNE1: Rating: ; Mode of pathogenicity: None; Publications: 33105479; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:07:46.344642Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.98",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: COASY: Changed rating: GREEN",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:07:05.347138Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.98",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: COASY as Amber List (moderate evidence)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:07:05.341918Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.98",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:07:05.316015Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.98",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: coasy has been classified as Amber List (Moderate Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:06:44.346849Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.97",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: COASY were set to 30089828; 24360804",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:06:30.626257Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.96",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: COASY.",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:05:38.670141Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.96",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: COASY: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen (although it has a confirmed associated with Neurodegeneration with brain iron accumulation 6 OMIM:615643, PMID 24360804). At least two terminating variants have been reported in four cases of Pontocerebellar hypoplasia, type 12 OMIM:618266 in two unrelated families (PMID 30089828). Segregation and supportive functional studies were reported, together with a zebrafish morpholino knockdown, where the lack of COASY expression was rescued by addition of CoA to the water or by injection of CoA in the brain ventricle (PMID 27892483). It was proposed that the human fetuses survived gestation due to exposure to maternal CoA (PMID 30089828).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-02-01T17:43:51.170902Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.96",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Variants are also associated with Neurodegeneration with brain iron accumulation 6 OMIM:615643, but this phenotype is not relevant to the Severe microcephaly panel (PMID 24360804).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-02-01T17:43:51.133762Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.96",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: COASY were changed from Pontocerebellar hypoplasia, type 12 OMIM:618266 to Pontocerebellar hypoplasia, type 12 OMIM:618266",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-02-01T17:00:58.442086Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.95",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: COASY were changed from Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis to Pontocerebellar hypoplasia, type 12 OMIM:618266",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-01-29T15:25:24.440258Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.94",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:42:58.831298Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.93",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KNL1 were changed from MCPH; primary microcephaly; Primary Microcephaly, Recessive; Microcephaly 4, primary, autosomal recessive, 604321; Microcephaly 4, Primary, Autosomal Recessive to Microcephaly 4, primary, autosomal recessive, OMIM:604321; Microcephaly 4, primary, autosomal recessive, MONDO:0011437",
"entity_name": "KNL1",
"entity_type": "gene"
},
{
"created": "2021-01-28T16:24:34.139554Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.92",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TMX2 were changed from Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730 to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2021-01-28T12:28:36.707876Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ERCC5 were set to 24700531; 9096355 (Retracted)",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-01-28T12:28:10.011895Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.90",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ERCC5 as Amber List (moderate evidence)",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-01-28T12:28:10.006882Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.90",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene reassessed in view of recent expert review. Upgraded from Red to Amber as there are at least 9 fetuses from 4 unrelated families with cerebrooculofacioskeletal syndrome due to biallelic variants in this gene (PMIDs: 24700531; 32052936; 32557569). Microcephaly is reported in all affected cases; however, as extent of this presentation is not specified ERCC5 cannot be promoted to Green on this panel at present. \r\n\r\nNonetheless, we would expect this phenotype to be picked up via the Fetal anomalies panel, for which this gene is already Green (v.1.92).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-01-28T12:28:09.968961Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.90",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-01-27T17:07:43.695216Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.89",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AP4S1 were changed from Spastic paraplegia 52, autosomal recessive (MIM#614067) to Spastic paraplegia 52, autosomal recessive, OMIM:614067; Hereditary spastic paraplegia 52, MONDO:0013552",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-01-27T17:02:16.590303Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.88",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Literature search revealed at least 23 individuals from 17 unrelated families reported in literature with biallelic variants in this gene (PMID: 21620353; 25552650; 27444738; 30283821; 32216065; 32979048). Microcephaly was observed in 15/21 cases but precise details regarding head circumference were mostly omitted or presentation was too mild relative to the scope of this panel. However, at least 2 individuals (2 families) did have microcephaly of relevant severity (OFC ≤ -3 SD) (see PMIDs: 21620353 and 25552650).\r\n\r\nThis disorder may be better represented by other panels (e.g. HSP, ID) for which this gene is already Green.; to: Literature search revealed at least 23 individuals from 17 unrelated families reported in literature with biallelic variants in this gene (PMID: 21620353; 25552650; 27444738; 30283821; 32216065; 32979048). Microcephaly was observed in 15/21 cases but precise details regarding head circumference were mostly omitted or presentation was too mild relative to the scope of this panel. However, at least 2 individuals (2 families) did have microcephaly of relevant severity (OFC ≤ -3 SD) (see PMIDs: 21620353 and 25552650).\r\n\r\nThis disorder may be better represented by other panels (e.g. HSP, ID) for which this gene is already Green.\r\n\r\n- PMID: 32216065 (2020) - Zebrafish model recapitulates several human phenotypes, including decreased head size.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:59:06.143232Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.88",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: AP4S1 as Amber List (moderate evidence)",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:59:06.139723Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.88",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Amber with recommendation of review by the GMS team to assess whether there is sufficient evidence to support a Green rating (added 'for-review' tag)",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:59:06.120901Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.88",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ap4s1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:58:42.268061Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.87",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: AP4S1.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:58:23.277091Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.87",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: ; Mode of pathogenicity: None; Publications: 21620353, 25552650, 27444738, 30283821, 32216065, 32979048; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:33:38.466697Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.87",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark. Rating Amber but there is sufficient evidence to rate Green at the next GMS panel update (added 'for-review' tag)\r\n\r\nAt least 21 individuals from 11 unrelated families reported in literature with variants in this gene (PMID: 32979048). Microcephaly was observed in 14/16 cases but details regarding head circumference were mostly unavailable. At least 5 individuals (2 families) had microcephaly of relevant severity to this panel (OFC ≤ -3 SD) (see PMIDs: 21620353 and 20972249).; to: Comment on list classification: New gene added by Zornitza Stark. Rating Amber with recommendation of review by the GMS team to assess whether there is sufficient evidence to support a Green rating (added 'for-review' tag)\r\n\r\nAt least 21 individuals from 11 unrelated families reported in literature with variants in this gene (PMID: 32979048). Microcephaly was observed in 14/16 cases but precise details regarding head circumference were mostly omitted (no relevant info was provided for the remaining 5 patients). However, at least 5 individuals (2 families) had microcephaly of relevant severity to this panel (OFC ≤ -3 SD) (see PMIDs: 21620353 and 20972249). ",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:32:26.405270Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.87",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive (MIM#612936) to Spastic paraplegia 50, autosomal recessive, OMIM:612936; Hereditary spastic paraplegia 50, MONDO:0013048",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:31:49.396235Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.86",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: AP4M1 as Amber List (moderate evidence)",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:31:49.392927Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.86",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Microcephaly is a variable feature of the disease presentation - often too mild relative to the scope of this panel, or absent altogether. However, there are at least 3 unrelated cases with sufficiently severe microcephaly. Although the overall disorder may be better represented by other panels (e.g. HSP, ID) for which this gene is already Green, microcephaly can be an early manifestation that may be evident prior to other AP4M1-related phenotypes. Therefore, there may be value in inclusion on this panel. \r\n\r\nRating Amber, with recommendation of review by the GMS team to assess whether there is sufficient evidence to support a Green rating on this panel (added 'for-review' tag)",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:31:49.374361Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.86",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:31:24.573147Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.85",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: AP4M1.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:31:13.428612Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.85",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: ; Mode of pathogenicity: None; Publications: 19559397, 21937992, 24700674, 25496299, 28464862, 29473051, 32337850; Phenotypes: Spastic paraplegia 50, autosomal recessive, OMIM:612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:45:26.570583Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.85",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ANKLE2.",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:45:16.849925Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.85",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ANKLE2 were changed from ?Microcephaly 16, primary, autosomal recessive, 616681 to Microcephaly 16, primary, autosomal recessive, OMIM:616681; Microcephaly 16, primary, autosomal recessive, MONDO:0014730",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:44:41.956460Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.84",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ANKLE2 were set to 25259927",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:44:33.413164Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.83",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ANKLE2 as Amber List (moderate evidence)",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:44:33.408013Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.83",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Red to Amber, but there is enough evidence to rate Green at the next GMS panel update (added 'for-review' tag).\r\n\r\nAt least 5 individuals from 4 unrelated families with primary microcephaly (HC -4.33 to -16.30 SD) and biallelic variants in ANKLE2 (PMIDs: 25259927 and 30214071). Several lines of supporting evidence using Drosophila Ankle2 mutants, including reduced brain size which could be rescued by expression of wildtype human ANKLE2.\r\n\r\nThis gene-disease association is also listed in OMIM (MIM# 616681).",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:44:33.361538Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.83",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ankle2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:47:47.408051Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: AGMO as Amber List (moderate evidence)",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:47:47.402526Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Red to Amber. With addition of the publication identified by Zornitza Stark, there are now 2/3 unrelated cases with microcephaly (PMIDs: 31555905 and 27000257). Rating Amber awaiting further cases prior to inclusion as diagnostic-grade.",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:47:47.376557Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: agmo has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:43:11.616621Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.81",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: AGMO were set to 27000257",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:42:38.478064Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.80",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: AGMO",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:07:38.533577Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.80",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PPIL1 as Amber List (moderate evidence)",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:07:38.530526Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.80",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag) - sufficient number of unrelated cases with relevant phenotype, supported by functional data.",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:07:38.513272Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.80",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:06:20.727604Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.79",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: PPIL1 was added\ngene: PPIL1 was added to Severe microcephaly. Sources: Literature\nfor-review tags were added to gene: PPIL1.\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly\nReview for gene: PPIL1 was set to GREEN\nAdded comment: Currently not associated with any phenotype in OMIM (last edited on: 10/07/2001) but has a 'probable' gene rating for 'PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly' in Gene2Phenotype.\r\n\r\n- PMID: 33220177 (2021) - At least 12 variants identified in 17 individuals from 9 unrelated families. All displayed pontocerebellar hypoplasia and progressive congenital microcephaly (-4 to -8 SD HC). Further common phenotypes included hypotonia, seizures, intellectual disability with delayed language and motor development, and cortical changes on brain MRI, most notably simplified gyri pattern. Pathogenicity is supported by mouse model. \nSources: Literature",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:57:38.472618Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FBRSL1 were changed from to Intellectual disability; Microcephaly; Heart defect; Cleft palate; Contractures; Hearing impairment; Skin creases",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:57:30.197763Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: FBRSL1 were set to ",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:57:06.737472Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: FBRSL1: Changed publications: 32424618; Changed phenotypes: Intellectual disability, Microcephaly, Heart defect, Cleft palate, Contractures, Hearing impairment, Skin creases",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:54:27.619746Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: FBRSL1.",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:54:20.590174Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FBRSL1 as Amber List (moderate evidence)",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:54:20.584732Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag) - sufficient number of unrelated cases with distinct variants and relevant phenotype, supported by functional data.",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:54:20.557127Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:53:56.809173Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: FBRSL1 was added\ngene: FBRSL1 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nReview for gene: FBRSL1 was set to GREEN\nAdded comment: Currently not associated with any phenotype in OMIM or Gene2Phenotype.\r\n\r\n- PMID: 32424618 (2020): Three different de novo truncating variants identified by WES in three unrelated individuals with a congenital malformation syndrome. Clinical characteristics include respiratory insufficiency, postnatal growth restriction, microcephaly, ID/GDD and other malformations. 2/3 had heart defects, cleft palate and hearing impairment. \r\n\r\nKnockdown of Fbrsl1 in Xenopus laevis embryos resulted in disturbance in the outgrowth of cranial nerves and motor neurons, and craniofacial abnormalities which were rescued with the short N-terminal isoform but not with the isoform bearing one of the human variants. \nSources: Literature",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-20T17:16:27.858117Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2021-01-20T17:16:18.159714Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TRAPPC12 as Amber List (moderate evidence)",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2021-01-20T17:16:18.154500Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag) - sufficient unrelated published cases, plus an internally diagnosed individual; where measurements were indicated (3/5 cases), microcephaly was of relevant severity to this panel (<−3 SD)",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2021-01-20T17:16:18.128755Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: trappc12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2021-01-20T17:12:16.549867Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TRAPPC12.",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2021-01-20T17:11:33.522905Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777934, 32369837; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696; Mode of inheritance: None",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2021-01-19T18:24:25.456596Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.72",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly HP:0000252; postaxial polydactyly MONDO:0020927; congenital heart disease MONDO:0005453; Hirschsprung disease MONDO:0018309",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2021-01-19T18:23:39.105780Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.71",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: SMO as Red List (low evidence)",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2021-01-19T18:23:39.099892Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.71",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Comment on list classification: Promoting from grey to red. Although the expert reviewer recommends green, there is only one case in PMID: 32413283 where the patient is reported as having microcephaly.",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2021-01-19T18:23:39.064507Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.71",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: smo has been classified as Red List (Low Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2021-01-19T18:22:27.301367Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.70",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: SMO",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2021-01-18T11:53:18.035529Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ATP1A2 as Amber List (moderate evidence)",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-01-18T11:53:18.031634Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. At least 4 unrelated families with multiple congenital abnormalities and different homozygous truncating variants in the ATP1A2 gene. All were affected by microcephaly, and where measurements were specified, the severity was within the scope of this panel.\r\n\r\nRating Amber but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag)",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-01-18T11:53:17.995551Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: atp1a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-01-18T11:50:10.907021Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ATP1A2.",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-01-15T13:55:55.131437Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: KIF14.",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2021-01-15T13:55:13.490434Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: KIF14 as Amber List (moderate evidence)",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2021-01-15T13:55:13.485366Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Associated with relevant phenotype in OMIM and Gene2Phenotype. At least 8 unrelated families reported (PMIDs: 28892560 and 29343805) with severe primary microcephaly due to different biallelic variants in the KIF14 gene. Kif14 knockout mice also exhibit primary microcephaly.\r\n\r\nRating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag)",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2021-01-15T13:55:13.441207Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: kif14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2021-01-15T12:12:58.024774Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KIF14 were changed from Microcephaly 20, primary, autosomal recessive, MIM# 617914 to Microcephaly 20, primary, autosomal recessive, OMIM:617914; Microcephaly 20, primary, autosomal recessive, MONDO:0054761",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:55:53.333392Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ZNF526 as Amber List (moderate evidence)",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:55:53.328220Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Amber but may be promoted to Green at the next GMS panel update (added for-review' tag).\r\n\r\nSufficient number of unrelated cases (3) with microcephaly of relevant severity to this panel (more than -3 SD). Truncating variants appear to be associated with a more severe disease presentation (PMID: 33397746).",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:55:53.300581Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: znf526 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:52:48.199328Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.66",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ZNF526 was added\ngene: ZNF526 was added to Severe microcephaly. Sources: Literature\nfor-review tags were added to gene: ZNF526.\nMode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF526 were set to 33397746\nPhenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia\nReview for gene: ZNF526 was set to GREEN\nAdded comment: Currently not associated with any phenotype in OMIM (last updated on 09/12/2011), but has a 'possible' disease confidence rating for 'Autosomal Recessive Mental Retardation' in Gene2Phenotype.\r\n\r\n- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum \nSources: Literature",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-07T08:52:47.173271Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAMK2B was added\ngene: CAMK2B was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAMK2B were set to 32875707\nPhenotypes for gene: CAMK2B were set to microcephaly; intellectual disability; behavioural problems\nReview for gene: CAMK2B was set to GREEN\nAdded comment: 5 individuals in review of literature with same de novo monoallelic variant reported with microcephaly \nSources: Literature",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T17:28:04.409885Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.65",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: AP4E1 were set to 20972249; 21620353; 21937992",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-01-05T17:24:32.000986Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: AP4E1.",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-01-05T17:24:20.702874Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: AP4E1 as Amber List (moderate evidence)",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-01-05T17:24:20.698337Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Amber but there is sufficient evidence to rate Green at the next GMS panel update (added 'for-review' tag)\r\n\r\nAt least 21 individuals from 11 unrelated families reported in literature with variants in this gene (PMID: 32979048). Microcephaly was observed in 14/16 cases but details regarding head circumference were mostly unavailable. At least 5 individuals (2 families) had microcephaly of relevant severity to this panel (OFC ≤ -3 SD) (see PMIDs: 21620353 and 20972249).",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-01-05T17:24:20.666603Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ap4e1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-01-05T15:49:50.864099Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive, MIM# 613744 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-01-05T13:15:49.314568Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive, MIM# 614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-01-05T13:15:07.448939Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-01-05T13:15:01.060687Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: AP4B1 as Amber List (moderate evidence)",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-01-05T13:15:01.055380Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Amber but will be flagged for review at the next GMS panel update to assess whether clinical utility is sufficient for inclusion as Green (added 'for-review' tag).\r\n\r\nLiterature search revealed at least 24 unrelated published cases with biallelic variants in this gene. Microcephaly is commonly reported but often mild, and particularly in the context of other more prominent/universal features (ID, HSP, etc) this disorder may be better represented by other panels. \r\n\r\nNonetheless, microcephaly of relevant severity to this panel (OFC ≤ -3 SD) has been recorded in at least 8 unrelated families which reaches the threshold for inclusion (PMIDs: 21620353; 29193663; 30337681; 32166732)",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-01-05T13:15:01.012942Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-01-05T11:22:26.880251Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: AP4B1.",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:35:13.977978Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: C7orf43 were changed from Microcephaly 25, primary, autosomal recessive, MIM#\t618351 to Microcephaly 25, primary, autosomal recessive, OMIM:618351; Microcephaly 25, primary, autosomal recessive, MONDO:0032694",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:34:38.572822Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C7orf43.",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:34:27.776174Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: C7orf43: Added new-gene-name tag, new approved HGNC gene symbol for C7orf43 is MAP11",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:33:49.434789Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: C7orf43 as Amber List (moderate evidence)",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:33:49.431134Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Associated with relevant phenotype in OMIM (MIM# 618351) but not yet in Gene2Phenotype.\r\n\r\nThree individuals from one family with severe ID and primary microcephaly of relevant severity (-5 SD to -6 SD). Zebrafish model recapitulates human microcephaly phenotype. \r\n\r\nRating Amber as additional cases required prior to inclusion on a diagnostic panel.",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:33:49.402467Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: c7orf43 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2020-12-24T15:22:46.021887Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome 2, 300590 (includes microcephaly) to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-12-23T17:13:44.998299Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SMG8 as Amber List (moderate evidence)",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-23T17:13:44.992830Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Amber but can be promoted to Green at the next GMS panel update (added 'for-review' tag). \r\n\r\nAt least 5 unrelated families with microcephaly and different homozygous variants in the SMG8 gene. OFC recorded for only 3 families, but each includes at least one microcephalic individual with severity relevant to this panel (more than -3 SD)",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-23T17:13:44.963556Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: smg8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-23T17:08:54.940392Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: SMG8 was added\ngene: SMG8 was added to Severe microcephaly. Sources: Literature\nfor-review tags were added to gene: SMG8.\nMode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMG8 were set to 31130284; 33242396\nPhenotypes for gene: SMG8 were set to Intellectual disability; Microcephaly; Short stature; Facial dysmorphism\nReview for gene: SMG8 was set to GREEN\nAdded comment: Currently not associated with any phenotype in OMIM or G2P. \r\n-----\r\n- PMID: 31130284 (2019) - Two individuals with distinct homozygous variants in this gene identified as part of a large candidate gene discovery study. Phenotype in one patient included microcephaly, ID, cataract, and neck hyperpigmentation; while the other presented short stature, microcephaly, fine motor delay, ventricular septal defect, failure to thrive, and facial dysmorphism.\r\n\r\n- PMID: 33242396 (2020) - 9 affected individuals from 4 consanguineous families with different biallelic variants in the SMG8 gene. Clinical features include GDD/ID (8/8), dysmorphic features (9/9) microcephaly (6/9), short stature (4/9), brain imaging anomalies (4/5), congenital heart disease (3/9) and cataract (3/8). Some supportive functional data also provided. Microcephaly was recorded in 3/4 families, ranging in severity from -2.5 SD to -4.1 SD. \nSources: Literature",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-18T16:08:07.620437Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29, MIM# 616339 to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-12-09T14:33:57.598714Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: NARS: Added new-gene-name tag, new approved HGNC gene symbol for NARS is NARS1",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-12-09T14:33:47.957129Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: NARS as Amber List (moderate evidence)",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-12-09T14:33:47.953149Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag)",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-12-09T14:33:47.903288Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: nars has been classified as Amber List (Moderate Evidence).",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-12-09T14:33:27.936674Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: NARS was added\ngene: NARS was added to Severe microcephaly. Sources: Literature\nnew-gene-name, for-review tags were added to gene: NARS.\nMode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NARS were set to 32738225; 32788587\nPhenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092\nReview for gene: NARS was set to GREEN\nAdded comment: Associated with relevant phenotype in OMIM, and in Gene2Phenotype with 'confirmed' disease confidence for 'NARS1 Neurodevelopmental Disorder (monoallelic)' and 'probable' for 'NARS1 Neurodevelopmental Disorder (biallelic)' \r\n\r\nTotal of 24 patients from 13 unrelated families with biallelic variants in the NARS1 gene (PMIDs: 32738225 and 32788587) and 8 unrelated patients with de novo heterozygous variants (PMIDs: 32738225). Microcephaly was observed in the majority of cases (90%), with severity relevant to this panel (≥ 3 SD). These cases predominantly presented with primary microcephaly; however, secondary microcephaly was also noted. Other features include GDD/ID, seizures, ataxia, and dysmorphism. Supportive functional data. \nSources: Literature",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2020-12-09T07:39:04.372271Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRP7A was added\ngene: RRP7A was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: RRP7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RRP7A were set to 33199730\nPhenotypes for gene: RRP7A were set to Microcephaly\nReview for gene: RRP7A was set to AMBER\nAdded comment: 10 affected individuals from a single large consanguineous family where bi-allelic variant segregated with severe microcephaly (-6-8SD), variable ID. Supportive functional data from mouse and zebrafish. \nSources: Literature",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2020-12-09T07:29:40.387425Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YIPF5 was added\ngene: YIPF5 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIPF5 were set to 33164986\nPhenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures\nReview for gene: YIPF5 was set to GREEN\nAdded comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association. \nSources: Literature",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-08T15:58:44.171492Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MORC2 as Amber List (moderate evidence)",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-08T15:58:44.166520Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Though signs suggestive of neuropathy were observed in the cohort presented by Sacoto et al (PMID:32693025), these were not the predominant feature of the disease presentation or the primary indication for diagnostic testing. Inclusion on this panel would be of value for detecting such cases, and so this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-08T15:58:44.138236Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: morc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-08T15:51:03.650568Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: MORC2 was added\ngene: MORC2 was added to Severe microcephaly. Sources: Literature\nfor-review tags were added to gene: MORC2.\nMode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MORC2 were set to 32693025\nPhenotypes for gene: MORC2 were set to Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688\nReview for gene: MORC2 was set to GREEN\nAdded comment: MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Severity of microcephaly relevant to this panel (≥ 3 SD) was observed in 7 subjects. \nSources: Literature",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-04T12:46:10.045607Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.49",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SVBP were changed from Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569 to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569; Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-12-04T12:45:49.713574Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: SVBP.",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-12-04T12:45:43.726928Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SVBP as Amber List (moderate evidence)",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-12-04T12:45:43.719982Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag).\r\n\r\n12 individuals from 5 independent families (PMIDs: 31363758 and 30607023). Phenotypes include severe microcephaly in >3 families. SVBP is associated with a relevant phenotype in OMIM.",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-12-04T12:45:43.671146Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: svbp has been classified as Amber List (Moderate Evidence).",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:41:56.110711Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.47",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from Heyn-Sproul-Jackson syndrome 618724 to Heyn-Sproul-Jackson syndrome OMIM:618724; MONDO:0032882",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:32:20.423315Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.46",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: DNMT3A: Added comment: Associated with relevant phenotype (Heyn-Sproul-Jackson syndrome 618724) in OMIM and as probable Gen2Phen gene for Microcephalic primordial dwarfism. At least two gain of function variants reported in three unrelated cases, together with supportive functional studies (pmid 30478443).; Changed rating: GREEN",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:28:01.512808Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.46",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: DNMT3A.",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:27:44.710291Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.46",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from intellectual disability; microcephaly; short stature to Heyn-Sproul-Jackson syndrome 618724",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:26:34.376267Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.45",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: DNMT3A as Amber List (moderate evidence)",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:26:34.369489Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.45",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.\r\nNote gain of function variants associated with this phenotype.",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:26:34.320735Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.45",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: dnmt3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:04:03.060744Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: LMNB2: Added comment: Not associated with a relevant phenotype in OMIM or in Gen2Phen. PMID 33033404 reports five individuals with heterozygous variants in LMNB2. One of these cases was de novo for c.160A>C p.N54H (NM_032737.4) and the remaining cases had c.1192G>A, p.Glu398Lys (NM_032737.4), which was shown to be de novo in two cases, inherited from the unaffected mother (who was mosaic for the variant) and the inheritance in the remaining case was not established. All of these cases had moderate to severe developmental delay and microcephaly.; Changed rating: GREEN",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:03:30.185815Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: LMNB2.",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:03:21.121674Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: LMNB2 as Amber List (moderate evidence)",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:03:21.116150Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-24T12:03:21.075409Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-11-19T18:32:06.154431Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Not associated with relevant phenotype in OMIM (19/11/2020), but as confirmed Gen2Phen gene for LMNB1-associated developmental disorder. At least 7 variants reported in at least 7 unrelated cases. Each variant was associated with intellectual disability and microcephaly (PMID 32910914; 33033404).; to: Not associated with relevant phenotype in OMIM (19/11/2020), but as confirmed Gen2Phen gene for LMNB1-associated developmental disorder. At least 5 variants reported in at least 5 unrelated cases. Each variant was associated with intellectual disability and microcephaly (PMID 32910914; 33033404).",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-19T17:51:12.042178Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: LMNB1: Added comment: Not associated with relevant phenotype in OMIM (19/11/2020), but as confirmed Gen2Phen gene for LMNB1-associated developmental disorder. At least 7 variants reported in at least 7 unrelated cases. Each variant was associated with intellectual disability and microcephaly (PMID 32910914; 33033404).; Changed rating: GREEN",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-19T17:50:27.387888Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: LMNB1.",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-19T17:50:15.743153Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: LMNB1 as Amber List (moderate evidence)",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-19T17:50:15.732390Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-19T17:50:15.659183Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: lmnb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-19T17:49:39.526239Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.42",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: LMNB1 were set to 33033404",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-19T17:49:02.653557Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.41",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: LMNB1 were changed from Congenital microcephaly; Global developmental delay; Intellectual disability to Congenital microcephaly; Global developmental delay; Intellectual disability; LMNB1-associated developmental disorder",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-10-28T16:21:55.446094Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: METTL5 as Amber List (moderate evidence)",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2020-10-28T16:21:55.442386Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Borderline Green/Amber gene. Sufficient unrelated cases (3) from literature and supportive animal models, but uncertain functional significance of one variant. Thus METTL5 will be flagged for review of evidence at the next GMS panel update (added 'for-review' tag)",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2020-10-28T16:21:55.422159Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: mettl5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2020-10-28T16:15:47.147878Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: METTL5 was added\ngene: METTL5 was added to Severe microcephaly. Sources: Literature\nfor-review tags were added to gene: METTL5.\nMode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: METTL5 were set to 29302074; 31564433; https://imgc2019.sciencesconf.org/data/abstract_book_complete.pdf\nPhenotypes for gene: METTL5 were set to Intellectual developmental disorder, autosomal recessive 72, 618665\nAdded comment: Associated with 'Intellectual developmental disorder' in OMIM, and is a 'probable' gene for 'Autosomal-Recessive Intellectual Disability and Microcephaly' in DD-G2P.\r\n\r\nGene added and expert reviewed on Intellectual Disability panel: https://panelapp.genomicsengland.co.uk/panels/285/gene/METTL5/\r\n\r\nDistinct biallelic variants reported in 3 unrelated families (total 9 individuals) with severe microcephaly (OFC -2.8 to -8 SD) and intellectual disability. Mouse and zebrafish models appeared to recapitulate relevant human phenotypes (microcephaly, ID and growth retardation).\r\n\r\nHowever, the Gly61Asp variant found in the PMID:29302074 siblings is currently classified VUS as localisation and expression studies failed to demonstrate a functional impact on the encoded protein. \nSources: Literature",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2020-10-28T14:57:59.682023Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MFSD2A were changed from Microcephaly 15, primary, autosomal recessive, 616486 to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-10-28T14:57:49.105935Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on publications: Added publications to support this gene-disease association",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-10-28T14:57:49.083888Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: MFSD2A were set to 12046007",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-10-27T12:16:37.114476Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ZNF335 were set to 25951892; 25548773; 23178126",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-10-27T12:16:25.432033Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF335 were changed from Autosomal recessive primary microcephaly (MCPH) ; ?Microcephaly 10, primary, autosomal recessive, 615095 to Microcephaly 10, primary, autosomal recessive, 615095",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-10-27T12:12:21.654211Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ZNF335 as Amber List (moderate evidence)",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-10-27T12:12:21.648881Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated Green at the next GMS panel update (added 'for-review' tag).",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-10-27T12:12:21.630572Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: znf335 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-10-27T12:12:11.329444Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ZNF335.",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-10-27T12:11:51.245488Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 23178126, 27540107, 29652087, 30500859, 31187448; Phenotypes: Microcephaly 10, primary, autosomal recessive, 615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-10-26T13:37:00.833190Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.33",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-10-20T15:37:25.462874Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CEP55 as Amber List (moderate evidence)",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-10-20T15:37:25.459335Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-10-20T15:37:25.430690Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-10-20T15:37:17.121832Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CEP55.",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-10-20T14:03:16.288520Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TMX2 as Amber List (moderate evidence)",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-10-20T14:03:16.282876Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-10-20T14:03:16.242890Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-10-20T13:19:04.305391Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TMX2.",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-10-19T10:05:44.813871Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3A were changed from Angelman syndrome MIM#105830 to Angelman syndrome 105830",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-19T10:05:37.459696Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.30",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: UBE3A were set to ",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-19T10:05:18.795716Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: UBE3A as Amber List (moderate evidence)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-19T10:05:18.761257Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: ube3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-19T10:05:00.475965Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: UBE3A.",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-19T10:04:44.601818Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: UBE3A: Added comment: Postnatal microcephaly has been reported in Angelman syndrome patients, mostly amonst those with deletions rather than UPD of 15q.; Changed rating: AMBER; Changed publications: 2012134, 9182785, 10861661, 10861661; Changed phenotypes: Angelman syndrome 105830; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-19T09:57:14.293387Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: In accordance with http://igc.otago.ac.nz/home.html",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-19T09:57:14.271044Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE3A was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:09:36.707126Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.27",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: LMNB2 was added\ngene: LMNB2 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LMNB2 were set to 33033404\nPhenotypes for gene: LMNB2 were set to Congenital microcephaly; Global developmental delay; Intellectual disability\nPenetrance for gene: LMNB2 were set to Complete\nMode of pathogenicity for gene: LMNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: LMNB2 was set to GREEN\nAdded comment: Parry et al (2020 - PMID: 33033404) in a study to identify novel microcephaly genes using the DDD and 100k genomes project (100kGP) patient cohort, report on the phenotype of 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6).\r\n\r\nLMNB1 : The authors identified 3 recurrent variants (c.97A>G - p.Lys33Glu (3), c.97_99del - p.Lys33del (2) , c.269G>C - p.Arg90Pro (2) / NM_005573.4) in seven individuals (3 from the DDD study, 4 from the 100kGP). In all cases were segregation studies were possible, the variant had occurred as a de novo event.\r\n\r\nLMNB2 : 4 individuals from the DDD cohort and 1 from the 100kGP were found to harbor the same missense SNV (NM_032737.4:c.1192G>A, p.Glu398Lys). The variant had occurred de novo in 3 subjects and was inherited from a mosaic - unaffected - parent in a further case. Another individual was found to harbor c.160A>C - p.Asn54His.\r\n\r\nLMNB1/2 common phenotypes : \r\nAll cases had congenital microcephaly (OFC -5.85 +/- 1.14 SD) apart from one individual, without history of IUGR or postnatally abnormal height (the latter in most).\r\n\r\nNeuroimaging suggested structurally normal brain without abnormal migration. Gyral simplification / global reduction in white matter / increased extra axial spaces / enlarged ventricles were reported in 2.\r\n\r\nLMNB1 - Global developmental delay was a feature in all (mild to severe) with some having occasional words at 7y (P3), absent speech (P9 - age category 5-10y) or ID not further specified (P13).\r\n\r\nLMNB2 - DD was a feature in all 6 subjects (5/6 moderate to severe - 1/6 GDD). 5/6 were 10y or older with language (in 3 language not achieved) and motor deficits (walking not achieved in 1/6 - occurred at the age of 6y in 1/6).\r\n\r\nFacial features were not consistent nor suggestive of a syndromic diagnosis (sloping forehead in some).\r\n\r\nOverall, as the authors comment, the phenotype corresponded to a severe nonsyndromic microcephaly (although additional features were reported in some).\r\n\r\nAnimal model: \r\nMicrocephaly is supported by Lmnb1 ko mouse model. Lmnb1/2 ko mice however display migration defects, while Lmnb2 ko mice do not have reduced size at birth. Heterozygous Lmnb1 mice do not present microcephaly. It is suggested that while animal models support a similar (to the human) phenotype the underlying mechanism is different.\r\n\r\nVariant effect : \r\nvariants were shown to affect highly conserved residues within the lamin a-helical rod-domain. As affected residues are conserved in LMNA, modelling with available LMNA PDB structures, suggested disrupted interactions required for higher-order assembly of lamin filaments.\r\n\r\nRecurrence of specific variants at specific residues, absence of pLoF ones, the htz mouse Lmnb1 phenotype (absence of microcephaly) and the proposed mechanism (perturbation of complex formation) suggest a gain-of-function/dominant-negative effect rather than happloinsufficiency.\r\n\r\n[Please also note the additional OMIM phenotypes for LMNB1 / LMNB2 - not here reviewed] \nSources: Literature",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:08:29.452383Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.27",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: LMNB1 was added\ngene: LMNB1 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LMNB1 were set to 33033404\nPhenotypes for gene: LMNB1 were set to Congenital microcephaly; Global developmental delay; Intellectual disability\nPenetrance for gene: LMNB1 were set to Complete\nMode of pathogenicity for gene: LMNB1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: LMNB1 was set to GREEN\nAdded comment: Parry et al (2020 - PMID: 33033404) in a study to identify novel microcephaly genes using the DDD and 100k genomes project (100kGP) patient cohort, report on the phenotype of 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6).\r\n\r\nLMNB1 : The authors identified 3 recurrent variants (c.97A>G - p.Lys33Glu (3), c.97_99del - p.Lys33del (2) , c.269G>C - p.Arg90Pro (2) / NM_005573.4) in seven individuals (3 from the DDD study, 4 from the 100kGP). In all cases were segregation studies were possible, the variant had occurred as a de novo event.\r\n\r\nLMNB2 : 4 individuals from the DDD cohort and 1 from the 100kGP were found to harbor the same missense SNV (NM_032737.4:c.1192G>A, p.Glu398Lys). The variant had occurred de novo in 3 subjects and was inherited from a mosaic - unaffected - parent in a further case. Another individual was found to harbor c.160A>C - p.Asn54His.\r\n\r\nLMNB1/2 common phenotypes : \r\nAll cases had congenital microcephaly (OFC -5.85 +/- 1.14 SD) apart from one individual, without history of IUGR or postnatally abnormal height (the latter in most).\r\n\r\nNeuroimaging suggested structurally normal brain without abnormal migration. Gyral simplification / global reduction in white matter / increased extra axial spaces / enlarged ventricles were reported in 2.\r\n\r\nLMNB1 - Global developmental delay was a feature in all (mild to severe) with some having occasional words at 7y (P3), absent speech (P9 - age category 5-10y) or ID not further specified (P13).\r\n\r\nLMNB2 - DD was a feature in all 6 subjects (5/6 moderate to severe - 1/6 GDD). 5/6 were 10y or older with language (in 3 language not achieved) and motor deficits (walking not achieved in 1/6 - occurred at the age of 6y in 1/6).\r\n\r\nFacial features were not consistent nor suggestive of a syndromic diagnosis (sloping forehead in some).\r\n\r\nOverall, as the authors comment, the phenotype corresponded to a severe nonsyndromic microcephaly (although additional features were reported in some).\r\n\r\nAnimal model: \r\nMicrocephaly is supported by Lmnb1 ko mouse model. Lmnb1/2 ko mice however display migration defects, while Lmnb2 ko mice do not have reduced size at birth. Heterozygous Lmnb1 mice do not present microcephaly. It is suggested that while animal models support a similar (to the human) phenotype the underlying mechanism is different.\r\n\r\nVariant effect : \r\nvariants were shown to affect highly conserved residues within the lamin a-helical rod-domain. As affected residues are conserved in LMNA, modelling with available LMNA PDB structures, suggested disrupted interactions required for higher-order assembly of lamin filaments.\r\n\r\nRecurrence of specific variants at specific residues, absence of pLoF ones, the htz mouse Lmnb1 phenotype (absence of microcephaly) and the proposed mechanism (perturbation of complex formation) suggest a gain-of-function/dominant-negative effect rather than happloinsufficiency.\r\n\r\n[Please also note the additional OMIM phenotypes for LMNB1 / LMNB2 - not here reviewed] \nSources: Literature",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-10-15T10:34:32.763609Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.27",
"user_name": "Rachel Jones",
"item_type": "entity",
"text": "reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PID: 30478443; Phenotypes: 618724 HEYN-SPROUL-JACKSON SYNDROME, HESJAS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-10-06T15:32:24.932499Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: YIF1B.\nTag watchlist tag was added to gene: YIF1B.",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-10-06T15:31:37.520715Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: YIF1B.",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-10-06T15:31:32.244782Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: YIF1B as Amber List (moderate evidence)",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-10-06T15:31:32.239247Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Although 5/6 individuals described in PMID:32006098 had microcephaly, 4 of these share the same founder variant and the severity of microcephaly is not specified. Therefore, rating Amber until further cases are reported (added to watchlist).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-10-06T15:31:32.199114Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:20:38.499482Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract; structural brain abnormalities; hypoventilation to Sandestig-Stefanova syndrome, 618804",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:20:27.301419Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: NUP188 as Amber List (moderate evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:20:27.296336Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next major review - progressive microcephaly reported in at least 5 affected individuals due to biallelic truncating variants in NUP188.",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:20:27.270193Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:19:31.868010Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: NUP188.",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:18:23.857733Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: 32021605, 32275884; Phenotypes: Sandestig-Stefanova syndrome, 618804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:50.282753Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: RAD50.",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:33.837016Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, MIM# 613078 to Nijmegen breakage syndrome-like disorder, 613078",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:28.306359Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: RAD50 were set to 19409520; 32212377",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:13.207303Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RAD50 as Amber List (moderate evidence)",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:13.202207Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Relevant phenotype (two unrelated cases with severe congenital microcephaly) but additional cases required before inclusion of RAD50 on a diagnostic panel. \r\n\r\nRating Amber in anticipation of additional publications/clinical evidence (added to watchlist).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:13.162977Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-08T22:52:29.310238Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD50 was added\ngene: RAD50 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAD50 were set to 19409520; 32212377\nPhenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, MIM# 613078\nReview for gene: RAD50 was set to GREEN\ngene: RAD50 was marked as current diagnostic\nAdded comment: Two individuals reported with bi-allelic variants in this gene showing dysmorphic facial features similar to NBS, short stature, microcephaly, and mild/moderate intellectual disability. Fibroblasts established from one of the individuals showed chromosomal instability and abnormal radioresistant DNA synthesis. The MRE11/RAD50/NBN (MRN) complex is involved in signaling processes inducing the repair of DNA double-strand breaks. Variants in NBN and MRE11 are associated with Nijmegen breakage syndrome (NBS) and ataxia telangiectasia (AT)‐like disorder, respectively, so this gene is a strong biological candidate for this phenotype. \nSources: Literature",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:45:59.157703Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: EXOC7 as Amber List (moderate evidence)",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:45:59.151668Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Though mild microcephaly reported in 5/8 cases (-0.5 to -2.6 SD), rating Amber as severity of presentation is not within the scope of this panel.",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T14:45:59.108796Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: exoc7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:46:45.583511Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YIF1B was added\ngene: YIF1B was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIF1B were set to 32006098; 26077767\nPhenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement\nReview for gene: YIF1B was set to GREEN\ngene: YIF1B was marked as current diagnostic\nAdded comment: 6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function. \nSources: Expert list",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:42:44.122450Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UNC80 was added\ngene: UNC80 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC80 were set to 26708751; 26708753; 26545877; 29572195\nPhenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801\nReview for gene: UNC80 was set to GREEN\ngene: UNC80 was marked as current diagnostic\nAdded comment: Summary: Many patients reported as microcephalic. Not all have head circumference < -3SD but there are at least 3 unrelated individuals reported with head circumference smaller than this.\r\n\r\nPMID 26708751: 4 individuals from 3 families reported. At 4 years one had OFC -4SD (the others 2nd centile at 4yo, 3rd centile at 15yo, and 10th centile at 9yo).\r\n\r\nPMID 26708753: Two 'not directly related' families F1 and F2 identified with the same variant. A third and fourth family had different variants. All affected individuals described were microcephalic (F1: -3.2SD at 4yo; F2: -4SD at 2yo and -2.9SD at 13mo; F3: -2.4SD at 7yo; F4: 9th centile at 4yo and 5th centile at 8yo).\r\n\r\nPMID 26545877: 7 affected individuals from 2 distantly related families with the same nonsense variant were all microcephalic (<2nd centile).\r\n\r\nPMID 29572195: 2 unrelated individuals reported. Head circumference of patient 1 was -0.5SD at 9yo; Patient 2 -3.7SD at 3yo. \nSources: Expert list",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:40:30.080514Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGP2 was added\ngene: UGP2 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGP2 were set to 31820119\nPhenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly\nReview for gene: UGP2 was set to GREEN\ngene: UGP2 was marked as current diagnostic\nAdded comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain. \nSources: Expert list",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:38:14.599445Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE3A was added\ngene: UBE3A was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPhenotypes for gene: UBE3A were set to Angelman syndrome MIM#105830\nReview for gene: UBE3A was set to GREEN\ngene: UBE3A was marked as current diagnostic\nAdded comment: Microcephaly is a key feature. \nSources: Expert list",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:34:43.146528Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSEN54 was added\ngene: TSEN54 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSEN54 were set to 20952379; 20301773\nPhenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A (MIM#277470) and type 4 (MIM#225753)\nReview for gene: TSEN54 was set to GREEN\ngene: TSEN54 was marked as current diagnostic\nAdded comment: Microcephaly is a common feature of TSEN54 pontocerebellar hypoplasia (progressive in type 2, present at birth in type 4). \nSources: Expert list",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:33:02.538420Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSEN15 was added\ngene: TSEN15 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSEN15 were set to 27392077\nPhenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F MIM#617026\nReview for gene: TSEN15 was set to GREEN\ngene: TSEN15 was marked as current diagnostic\nAdded comment: PMID 27392077 Reports four individuals from three families with PCH type 2 and different homozygous missense variants, all had progressive microcephaly (between -3SD and -9.7SD). Functional studies indicated that all variants resulted in almost complete lack of in vitro tRNA cleavage activity. \nSources: Expert list",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:31:29.869356Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIO was added\ngene: TRIO was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIO were set to 26721934; 32109419\nPhenotypes for gene: TRIO were set to Mental retardation, autosomal dominant 44, MIM# 617061\nReview for gene: TRIO was set to GREEN\ngene: TRIO was marked as current diagnostic\nAdded comment: The nonsense mutations are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental phenotypes. In contrast, missense variants cluster into two mutational hotspots in the TRIO sequence, one in the seventh spectrin repeat and one in the RAC1-activating GEFD1. Individuals with a pathogenic variant in the seventh spectrin repeat have a more severe ID associated with macrocephaly than do most individuals with GEFD1 variants, who display milder ID and microcephaly. \nSources: Expert list",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:28:21.816813Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC1I2 was added\ngene: DYNC1I2 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DYNC1I2 were set to 31079899\nPhenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies\t, MIM#618492\nReview for gene: DYNC1I2 was set to GREEN\ngene: DYNC1I2 was marked as current diagnostic\nAdded comment: Five individuals from three unrelated families reported. \nSources: Expert list",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:26:34.622194Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPM1 was added\ngene: DPM1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPM1 were set to 16641202; 10642602; 10642597\nPhenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799\nReview for gene: DPM1 was set to GREEN\ngene: DPM1 was marked as current diagnostic\nAdded comment: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.\r\n\r\nPMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic\r\n\r\nPMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels. \nSources: Expert list",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:23:59.475933Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNMT3A was added\ngene: DNMT3A was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNMT3A were set to 30478443\nPhenotypes for gene: DNMT3A were set to intellectual disability; microcephaly; short stature\nReview for gene: DNMT3A was set to GREEN\ngene: DNMT3A was marked as current diagnostic\nAdded comment: Three individuals reported, two with the same de novo missense variant. Postulated to be GOF as opposed to LOF variants in this gene which cause an overgrowth syndrome. Animal model supports pathogenicity. \nSources: Expert list",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:21:51.129101Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 31045292; Phenotypes: Seckel syndrome 8, MIM#615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:20:22.096441Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTU2 was added\ngene: CTU2 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTU2 were set to 26633546\nPhenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MIM#618142)\nReview for gene: CTU2 was set to GREEN\ngene: CTU2 was marked as current diagnostic\nAdded comment: Dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL) as proposed by authors.\r\n\r\nPMID: 26633546\r\n- 3 consanguineous families all with the same splice variant (NM_001012762.1:c.873G>A). Assumed to be founder variant\r\n- all had microcephaly but measurements were not provided\r\n\r\nPMID: 27480277\r\n- 2 additional patients from an extended consanguineous family with the same variant as above\r\n- Patient 1: head circumference of -3.5SD at birth, not growing\r\n- Patient 2: head circumference of -4.3 SD\r\n\r\nPMID: 31301155\r\n- 5 new patients with microcephaly (no measurements provided)\r\n- 3x PTVs and 1x missense \nSources: Expert list",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:18:11.373645Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSF was added\ngene: CTSF was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: CTSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTSF were set to 23746550; 30893510; 28619046\nPhenotypes for gene: CTSF were set to Mental retardation, autosomal dominant 21 (MIM#615502)\nReview for gene: CTSF was set to GREEN\ngene: CTSF was marked as current diagnostic\nAdded comment: PMID: 23746550 \r\n- 4 probands, 2x PTV, 1x missense, 1x 280kb deletion (all de novo)\r\n- OFCs ranges from -0.8 SD (the proband with the deletion) to -3.51 SD\r\n\r\nPMID: 30893510\r\n- 3 probands, de novo 2x PTV and 1x missense\r\n- OFCs ranges from < -2 to < -3 SD\r\n\r\nPMID: 28619046\r\n- 1x proband with de novo fs\r\n- head circumference was under 10th centle \nSources: Expert list",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:16:10.715523Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSNK2A1 was added\ngene: CSNK2A1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSNK2A1 were set to 29240241\nPhenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome\tMIM#617062\nReview for gene: CSNK2A1 was set to GREEN\ngene: CSNK2A1 was marked as current diagnostic\nAdded comment: Microcephaly is a feature of the condition in 8/14 cases with de novo variants. \nSources: Expert list",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:14:20.383684Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHAMP1 was added\ngene: CHAMP1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHAMP1 were set to 27148580; 26340335\nPhenotypes for gene: CHAMP1 were set to Mental retardation, autosomal dominant 40 (MIM#616579)\nReview for gene: CHAMP1 was set to GREEN\ngene: CHAMP1 was marked as current diagnostic\nAdded comment: PMID: 27148580;\r\n- 10 patients including 5 from Hempel et al (PMID: 26340335)\r\n- 7 with microcephaly defined as <3rd centile\r\n- all PTVs and de novo\r\n\r\nPMID: 26340335;\r\n- 5 unrelated patients OFC at birth ranges from -0.4 to -3.1 SD \nSources: Expert list",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:12:37.422459Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: None; Publications: 21983783, 26158450; Phenotypes: Seckel syndrome 6, MIM#614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:10:23.412023Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BUB1B was added\ngene: BUB1B was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BUB1B were set to 18548531\nPhenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1 (MIM#257300)\nReview for gene: BUB1B was set to GREEN\ngene: BUB1B was marked as current diagnostic\nAdded comment: Severe microcephaly is a feature of MVAS. PMID: 18548531: review of 13 families with 12 presenting with microcephaly \nSources: Expert list",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:08:31.565100Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BPTF was added\ngene: BPTF was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BPTF were set to 28942966\nPhenotypes for gene: BPTF were set to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755\nReview for gene: BPTF was set to GREEN\ngene: BPTF was marked as current diagnostic\nAdded comment: Microcephaly observed in 7/9 individuals reported. \nSources: Expert list",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:05:55.669752Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AARS was added\ngene: AARS was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AARS were set to 28493438; 25817015\nPhenotypes for gene: AARS were set to Epileptic encephalopathy, early infantile, 29, MIM# 616339\nReview for gene: AARS was set to GREEN\ngene: AARS was marked as current diagnostic\nAdded comment: Bi-allelic variants associated with a severe phenotype comprising leukodystrophy, epilepsy, microcephaly and neurodevelopmental delay reported in three families. \nSources: Expert list",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-09-04T10:01:52.811731Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXG1 was added\ngene: FOXG1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXG1 were set to 21441262; 19564653; 19578037\nPhenotypes for gene: FOXG1 were set to Rett syndrome, congenital variant, MIM# 613454\nReview for gene: FOXG1 was set to GREEN\ngene: FOXG1 was marked as current diagnostic\nAdded comment: More than 20 individuals reported with de novo variants in this gene. Microcephaly is part of the phenotype. \nSources: Expert list",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T09:01:05.459289Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOC7 was added\ngene: EXOC7 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC7 were set to 32103185\nPhenotypes for gene: EXOC7 were set to brain atrophy; seizures; developmental delay; microcephaly\nReview for gene: EXOC7 was set to GREEN\ngene: EXOC7 was marked as current diagnostic\nAdded comment: 4 families with 8 affected individuals with brain atrophy, seizures, and developmental delay, and in more severe cases microcephaly and infantile death. Four novel homozygous or comp.heterozygous variants found in EXOC7, which segregated with disease in the families. They showed that EXOC7, a member of the mammalian exocyst complex, is highly expressed in developing human cortex. In addition, a zebrafish model of Exoc7 deficiency recapitulates the human disorder with increased apoptosis and decreased progenitor cells during telencephalon development, suggesting that the brain atrophy in human cases reflects neuronal degeneration. \nSources: Expert list",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:56:54.243492Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2S3 was added\ngene: EIF2S3 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: EIF2S3 were set to 23063529; 27333055; 28055140; 32799315\nPhenotypes for gene: EIF2S3 were set to MEHMO syndrome, MIM# 300148\nReview for gene: EIF2S3 was set to GREEN\nAdded comment: 9 families reported (3 had the same variant) with MEHMO syndrome (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity). \nSources: Expert list",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T02:49:56.719921Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC9 was added\ngene: TRAPPC9 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763; 30853973\nPhenotypes for gene: TRAPPC9 were set to Mental retardation, autosomal recessive 13, MIM# 613192\nReview for gene: TRAPPC9 was set to GREEN\ngene: TRAPPC9 was marked as current diagnostic\nAdded comment: Microcephaly is part of the phenotype. \nSources: Expert list",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-09-04T02:41:11.920090Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC6B was added\ngene: TRAPPC6B was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267\nPhenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862\nReview for gene: TRAPPC6B was set to GREEN\ngene: TRAPPC6B was marked as current diagnostic\nAdded comment: Five unrelated families reported with autosomal recessive neurodegenerative disorder characterised by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia. \nSources: Expert list",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T02:32:57.734481Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC12 was added\ngene: TRAPPC12 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC12 were set to 32369837; 28777934\nPhenotypes for gene: TRAPPC12 were set to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669\nReview for gene: TRAPPC12 was set to GREEN\ngene: TRAPPC12 was marked as current diagnostic\nAdded comment: Four families reported with a severe progressive encephalopathy characterized by microcephaly, global developmental delay, and hearing loss. \nSources: Expert list",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T02:24:43.712292Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPRKB was added\ngene: TPRKB was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPRKB were set to 28805828; 30053862\nPhenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731\nReview for gene: TPRKB was set to GREEN\ngene: TPRKB was marked as current diagnostic\nAdded comment: Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly. \nSources: Expert list",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T02:16:33.313111Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TP53RK was added\ngene: TP53RK was added to Severe microcephaly. Sources: Expert Review\nMode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TP53RK were set to 28805828; 30053862\nPhenotypes for gene: TP53RK were set to Galloway-Mowat syndrome 4, MIM# 617730\nReview for gene: TP53RK was set to GREEN\ngene: TP53RK was marked as current diagnostic\nAdded comment: At least 4 unrelated families reported with renal-neurologic disease characterised by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most individuals have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. \nSources: Expert Review",
"entity_name": "TP53RK",
"entity_type": "gene"
},
{
"created": "2020-09-04T01:58:06.455534Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCF4 was added\ngene: TCF4 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TCF4 were set to 18728071; 22934316\nPhenotypes for gene: TCF4 were set to Pitt-Hopkins syndrome, MIM# 610954\nReview for gene: TCF4 was set to GREEN\ngene: TCF4 was marked as current diagnostic\nAdded comment: Well established gene-disease association. Microcephaly reported in around 60%. \nSources: Expert list",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2020-09-03T09:03:43.529259Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SVBP was added\ngene: SVBP was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SVBP were set to 31363758; 30607023\nPhenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569\nReview for gene: SVBP was set to GREEN\nAdded comment: 5 unrelated families with homozygous mutations in SVBP, microcephaly is part of the phenotype. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \nSources: Expert list",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-09-03T08:56:34.845261Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMO was added\ngene: SMO was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMO were set to 32413283\nPhenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis\nReview for gene: SMO was set to GREEN\ngene: SMO was marked as current diagnostic\nAdded comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis). \nSources: Expert list",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-09-03T08:10:10.652443Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC1A4 was added\ngene: SLC1A4 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC1A4 were set to 25930971; 26138499; 26041762; 27193218; 29989513\nPhenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657\nReview for gene: SLC1A4 was set to GREEN\nAdded comment: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures. Multiple affected families reported. Note founder variant p.Glu256Lys is a common founder variant in the Ashkenazi Jewish population. \nSources: Expert list",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-09-03T08:04:05.550738Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 24951542, 30639237; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2020-09-03T08:02:30.382474Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RUSC2 was added\ngene: RUSC2 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: RUSC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RUSC2 were set to 27612186\nPhenotypes for gene: RUSC2 were set to Mental retardation, autosomal recessive 61, MIM# 617773\nReview for gene: RUSC2 was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Expert list",
"entity_name": "RUSC2",
"entity_type": "gene"
},
{
"created": "2020-09-03T03:32:12.689549Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PUS7 was added\ngene: PUS7 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS7 were set to 30526862; 30778726; 31583274\nPhenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM #618342\nReview for gene: PUS7 was set to GREEN\ngene: PUS7 was marked as current diagnostic\nAdded comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease. \nSources: Expert list",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2020-09-03T03:30:12.586199Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PUF60 was added\ngene: PUF60 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PUF60 were set to 28327570\nPhenotypes for gene: PUF60 were set to Verheij syndrome, MIM# 615583\nReview for gene: PUF60 was set to GREEN\ngene: PUF60 was marked as current diagnostic\nAdded comment: Over 15 affected individuals reported. Short stature and dev delay are consistent features. 5/12 in the largest case series had microcephaly in relation to stature (Z-scores −2.48, −4.22, −2.09, −2.99, −2.53 respectively). \nSources: Expert list",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2020-09-03T03:22:22.405304Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPN23 was added\ngene: PTPN23 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPN23 were set to 31395947; 29899372; 29090338; 27848944; 25558065\nPhenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890\nReview for gene: PTPN23 was set to GREEN\nAdded comment: Over 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum. \nSources: Expert list",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2020-09-03T03:02:05.182865Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 27640355; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2020-09-03T02:43:49.796383Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POGZ was added\ngene: POGZ was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POGZ were set to 26942287\nPhenotypes for gene: POGZ were set to White-Sutton syndrome, MIM# 616364\nReview for gene: POGZ was set to GREEN\ngene: POGZ was marked as current diagnostic\nAdded comment: Microcephaly is reported in around half of affected individuals. \nSources: Expert list",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2020-09-03T01:51:54.050212Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDCD6IP was added\ngene: PDCD6IP was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCD6IP were set to 32286682\nPhenotypes for gene: PDCD6IP were set to Primary microcephaly\nReview for gene: PDCD6IP was set to AMBER\nAdded comment: One consanguineous family with 2 affected sibs with primary microcephaly (-4SD), intellectual disability and short stature (-5/6SD), and homozygous frameshift variant in PDCD6IP. The homozygous variant was confirmed in both affected sibs, while the four healthy siblings and parents were heterozygous. The clinical features observed in the patients were similar to the phenotypes observed in mouse and zebrafish models of PDCD6IP mutations in previous studies. Borderline Red/Amber rating in view of the supportive animal model data. \nSources: Expert list",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2020-09-02T21:28:40.943477Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23832105; Phenotypes: Mental retardation, autosomal dominant 33 (MIM#616311); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2020-09-02T11:08:55.095301Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCDH12 was added\ngene: PCDH12 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDH12 were set to 27164683; 22822038; 30178464\nPhenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280\nReview for gene: PCDH12 was set to GREEN\nAdded comment: Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present. At least 12 families reported. \nSources: Expert list",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:34:27.759966Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC5: Changed publications: 32052936, 24700531",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:34:02.259311Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 32052936; Phenotypes: Cerebrooculofacioskeletal syndrome 3 MIM#616570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T07:38:29.889409Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089828, 28489334; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:53:34.856190Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ADARB1 were set to 32220291",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:47:41.483274Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: ADARB1: Added comment: PMID: 32719099 (2020) - Three additional patients from two consanguineous families with novel biallelic variants in the ADARB1 gene. All affected individuals presented global DD, severe-profound ID, intractable early infantile-onset seizures, severe microcephaly, axial hypotonia and progressive appendicular spasticity. In vitro RNA editing assays showed that both variants resulted in severe impairment or loss of ADAR2 enzymatic activity.; Changed publications: 32220291, 32719099",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-09-01T10:24:06.192393Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIST1H4C was added\ngene: HIST1H4C was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HIST1H4C were set to 28920961\nPhenotypes for gene: HIST1H4C were set to Growth delay, microcephaly and intellectual disability\nReview for gene: HIST1H4C was set to GREEN\ngene: HIST1H4C was marked as current diagnostic\nAdded comment: Two families and a zebrafish model reported initially, another case identified through clinical testing internally. \nSources: Expert list",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-09-01T05:46:57.579633Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF14 was added\ngene: KIF14 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF14 were set to 28892560; 29343805\nPhenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, MIM# 617914\nReview for gene: KIF14 was set to GREEN\ngene: KIF14 was marked as current diagnostic\nAdded comment: At least 8 families reported. Microcephaly ranged from -3.6 to -11 SD. \nSources: Expert list",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T05:13:26.174916Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAGE3: Set current diagnostic: yes",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-09-01T05:13:19.513816Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAGE3 was added\ngene: LAGE3 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: LAGE3 were set to 28805828\nPhenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked, MIM# 301006\nReview for gene: LAGE3 was set to GREEN\nAdded comment: Renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. At least three unrelated families and a mouse model. \nSources: Expert list",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2020-08-31T12:06:22.672378Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OSGEP was added\ngene: OSGEP was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSGEP were set to 28805828; 28272532\nPhenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM# 617729\nReview for gene: OSGEP was set to GREEN\ngene: OSGEP was marked as current diagnostic\nAdded comment: Early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most individuals have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Over 25 families reported. \nSources: Expert list",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2020-08-31T12:01:24.852285Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP188 was added\ngene: NUP188 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP188 were set to 32021605; 28726809; 32275884\nPhenotypes for gene: NUP188 were set to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation\nReview for gene: NUP188 was set to GREEN\ngene: NUP188 was marked as current diagnostic\nAdded comment: Eight unrelated individuals reported. \nSources: Expert list",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:55:02.176988Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP107 was added\ngene: NUP107 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP107 were set to 28280135; 28117080; 30179222; 25558065\nPhenotypes for gene: NUP107 were set to Galloway-Mowat syndrome 7, MIM# 618348\nReview for gene: NUP107 was set to GREEN\ngene: NUP107 was marked as current diagnostic\nAdded comment: Autosomal recessive disorder characterised by developmental delay, microcephaly (-5 to -9 SD), and early-onset nephrotic syndrome. Approx 10 families reported. Recurrent variant p.Met101Ile identified in several families, likely represents a South Asian founder allele. \nSources: Expert list",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:24:36.745508Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VRK1 was added\ngene: VRK1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VRK1 were set to 19646678; 24126608; 27281532; 31560180\nPhenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A MIM#607596\nReview for gene: VRK1 was set to GREEN\ngene: VRK1 was marked as current diagnostic\nAdded comment: PMID 19646678: A homozygous nonsense variant was identified in an affected Ashkenazi Jewish family with 3 individuals with SMA-PCH. 2 had severe microcephaly (-6SD at 5yo and -7.9SD at 19mo). The third was noted to be microcephalic but no figures given. PMID 24126608: \"Three affected individuals from 2 unrelated families presented with a complex neuropathy phenotype characterized by axonal sensorimotor neuropathy and microcephaly\". 2 sibs from one family had head circumference -4SD and -6SD and were chet for missense variants. The third unrelated individual was -6SD and hom for a nonsense variant. PMID 27281532: reports another individual with microcephaly but no details provided. \nSources: Expert list",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:21:59.282563Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRD4 was added\ngene: BRD4 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRD4 were set to 29379197; 30302754\nPhenotypes for gene: BRD4 were set to Cornelia de Lange-like syndrome\nReview for gene: BRD4 was set to AMBER\nAdded comment: A mixture of evidence from SNVs and CNVs. Note the CNVs are large and only some individuals have documented OFC < -3SD.\r\n\r\nPMID: 29379197;\r\n- 4x patients reports however only 3 reported with occipitofrontal circumference of < -3 SD\r\n- 1x microdeletion of 1.04Mb, 1x missense and 1x fs. All de novo\r\n\r\nPMID: 30302754\r\n- 1x proband with occipitofrontal circumference 28 cm (−2 SD)\r\n- de novo interstitial deletion involving the short arm of a chromosome 19, 1.97 Mb in size, which included BRD4 \nSources: Expert list",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:16:35.704354Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26416026, 28617965, 30079490, 29597095; Phenotypes: Galloway-Mowat syndrome 6 MIM#618347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:13:42.792055Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDR37: Set current diagnostic: yes",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:13:35.052091Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR37 was added\ngene: WDR37 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR37 were set to 31327508; 31327510\nPhenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome MIM#618652\nReview for gene: WDR37 was set to GREEN\nAdded comment: Summary: 7/9 individuals reported with neurooculocardiogenitourinary syndrome had microcephaly. 5 had measurements provided and were severe (-3SD).\r\n\r\nPMID 31327510: 4 individuals with de novo missense variants reported, with Neurooculocardiogenitourinary syndrome. All four have microcephaly - 49.5cm at 21yo, 40.2cm at 22mo (-4.8SD), 47.4cm at 7.5yo.\r\n\r\nPMID 31327508: 5 probands with de novo missense variants, 3 with microcephaly (0th centile, <3rd centile (-5SD), and 11th centile) \nSources: Expert list",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:10:33.074751Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A2 was added\ngene: ATP1A2 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP1A2 were set to 30690204; 31608932\nPhenotypes for gene: ATP1A2 were set to hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations\nReview for gene: ATP1A2 was set to GREEN\ngene: ATP1A2 was marked as current diagnostic\nAdded comment: This is a distinct phenotype from the one associated with mono-allelic variants.\r\n\r\nPMID: 30690204;\r\n- 2 families with severe microcephaly (-6 to -8 SD)\r\n- both homozygous PTVs\r\n\r\nPMID: 31608932;\r\n- 4 patients from 2 families \r\n- Family A, all 3 affecteds had severe microcephaly during ultrasound (-3 to -4 SD)\r\n- Family B, no measurements were reported\r\n- both homozygous PTVs \nSources: Expert list",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:08:42.146392Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARCN1 was added\ngene: ARCN1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARCN1 were set to 27476655\nPhenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)\nReview for gene: ARCN1 was set to GREEN\ngene: ARCN1 was marked as current diagnostic\nAdded comment: Borderline Amber/Green. Microcephaly is a key part of the phenotype but few exact measurements actually reported. \nSources: Expert list",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:06:32.805847Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4S1 was added\ngene: AP4S1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4S1 were set to 21620353; 25552650; 27444738\nPhenotypes for gene: AP4S1 were set to Spastic paraplegia 52, autosomal recessive (MIM#614067)\nReview for gene: AP4S1 was set to GREEN\ngene: AP4S1 was marked as current diagnostic\nAdded comment: Borderline Amber/Green as only one affected individual <-3SD; however, part of same gene family as other spastic paraplegias with microcephaly. Microcephaly in another family -2SD and precise information on the microcephaly not available for third family. \nSources: Expert list",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:03:59.089743Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4M1 was added\ngene: AP4M1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4M1 were set to 28464862; 24700674\nPhenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive (MIM#612936)\nReview for gene: AP4M1 was set to GREEN\ngene: AP4M1 was marked as current diagnostic\nAdded comment: Despite the OMIM name, this is a complex neurological condition, where microcephaly is an early prominent presenting feature.\r\n\r\nPMID: 28464862;\r\n- 1x with severe progressive microcephaly (< - 4 SD)\r\n- homozygous nonsense\r\n\r\nPMID: 24700674;\r\n- 2x unrelated patients (1 and 3) < -3 SD head circumference\r\n- 2x homozygous nonsense \nSources: Expert list",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-08-31T08:59:58.341822Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSD2 was added\ngene: NSD2 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSD2 were set to 30345613; 31171569\nPhenotypes for gene: NSD2 were set to microcephaly; intellectual disability\nReview for gene: NSD2 was set to GREEN\nAdded comment: Microcephaly reported in 6 of 7 individuals with LOF variants in this gene. \nSources: Expert list",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2020-08-31T06:51:27.947843Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 23178126, 27540107, 29652087; Phenotypes: Microcephaly 10, primary, autosomal recessive (MIM#615095); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-08-31T06:27:23.429254Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED17 was added\ngene: MED17 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED17 were set to 20950787; 30345598; 26004231\nPhenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668\nReview for gene: MED17 was set to GREEN\ngene: MED17 was marked as current diagnostic\nAdded comment: Five individuals from four families reported initially, founder effect for p.Leu371Pro. Two additional families reported since with different variants, one family with milder phenotype. \nSources: Expert list",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-08-31T06:22:24.152911Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MECP2 was added\ngene: MECP2 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: MECP2 were set to Rett syndrome, MIM# 312750; Encephalopathy, neonatal severe 300673\nReview for gene: MECP2 was set to GREEN\ngene: MECP2 was marked as current diagnostic\nAdded comment: Well established gene-disease association, microcephaly is a key phenotypic feature both in Rett syndrome and in males affected by severe neonatal encephalopathy. \nSources: Expert list",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-08-31T00:28:18.218379Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Activating variants in AKT2 and micro duplications are associated with macrocephaly/megalencephaly. Note that deletions involving AKT3 have consistently been associated with microcephaly. However, most involve at least one other gene apart from AKT3. One family reported with only AKT3 deleted: deletion was inherited from a phenotypically normal parent, suggesting either additional effects in bigger deletions or incomplete penetrance. You may wish to consider adding the CNV region to this panel rather than AKT3 alone, in which case I suspect the region has enough evidence for a Green rating. \nSources: Expert list; to: Activating variants in AKT3 and micro duplications are associated with macrocephaly/megalencephaly. Note that deletions involving AKT3 have consistently been associated with microcephaly. However, most involve at least one other gene apart from AKT3. One family reported with only AKT3 deleted: deletion was inherited from a phenotypically normal parent, suggesting either additional effects in bigger deletions or incomplete penetrance. You may wish to consider adding the CNV region to this panel rather than AKT3 alone, in which case I suspect the region has enough evidence for a Green rating. \r\nSources: Expert list",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-31T00:25:21.391664Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT3 was added\ngene: AKT3 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT3 were set to 32827175; 31929334; 30853971; 30053339; 25424989\nPhenotypes for gene: AKT3 were set to Microcephaly\nReview for gene: AKT3 was set to AMBER\nAdded comment: Activating variants in AKT2 and micro duplications are associated with macrocephaly/megalencephaly. Note that deletions involving AKT3 have consistently been associated with microcephaly. However, most involve at least one other gene apart from AKT3. One family reported with only AKT3 deleted: deletion was inherited from a phenotypically normal parent, suggesting either additional effects in bigger deletions or incomplete penetrance. You may wish to consider adding the CNV region to this panel rather than AKT3 alone, in which case I suspect the region has enough evidence for a Green rating. \nSources: Expert list",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-30T05:54:05.394140Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4E1 was added\ngene: AP4E1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4E1 were set to 20972249; 21620353; 21937992\nPhenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744\nReview for gene: AP4E1 was set to GREEN\ngene: AP4E1 was marked as current diagnostic\nAdded comment: Autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. Microcephaly is a prominent, presenting feature. At least 3 families reported. \nSources: Expert list",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T05:45:39.000051Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4B1 was added\ngene: AP4B1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758\nPhenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066\nReview for gene: AP4B1 was set to GREEN\ngene: AP4B1 was marked as current diagnostic\nAdded comment: Microcephaly is an early, prominent presenting feature of this progressive neurological disorder. At least 4 unrelated families reported. \nSources: Expert list",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T05:37:56.122273Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANKLE2: Changed rating: GREEN",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2020-08-30T05:37:40.439304Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKLE2: Rating: ; Mode of pathogenicity: None; Publications: 25259927, 30214071, 31735666; Phenotypes: Microcephaly 16, primary, autosomal recessive, MIM# 616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2020-08-30T05:30:45.638970Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGMO: Rating: GREEN; Mode of pathogenicity: None; Publications: 31555905; Phenotypes: microcephaly, intellectual disability, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:56:39.341729Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TUBGCP2 as Amber List (moderate evidence)",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:56:39.337017Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - at least three families with distinct TUBGCP2 variants, presenting progressive severe microcephaly.",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:56:39.317646Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:53:50.416872Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: TUBGCP2 was added\ngene: TUBGCP2 was added to Severe microcephaly. Sources: Literature\nfor-review tags were added to gene: TUBGCP2.\nMode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP2 were set to 31630790\nPhenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737\nReview for gene: TUBGCP2 was set to GREEN\nAdded comment: Associated with phenotype in OMIM, and a probable gene for Microcephaly and Lissencephaly Spectrum Disorders in G2P.\r\n\r\nPMID: 31630790 (2019) - Five patients from four families with biallelic variants in the TUBGCP2 gene. Affected individuals shared phenotypic features that included progressive severe microcephaly (4/4, Z score: -4.0 to -9.0), developmental delay (5/5, mild-severe), seizures (4/5). All patients exhibited lissencephaly-spectrum phenotypes with varying degrees of cortical malformations on brain imaging including pachygyria and subcortical band heterotopia.\r\n\r\nAll variants segregated with disease in each family. Analysis of fibroblasts derived from one patient with a splice site variant revealed several abnormal transcripts, predicted to result in LoF. No further functional studies of other variants or patient cells were performed. \nSources: Literature",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:58:31.004308Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: NCAPH.",
"entity_name": "NCAPH",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:58:24.642541Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: NCAPH as Red List (low evidence)",
"entity_name": "NCAPH",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:58:24.639078Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Additional cases are required to substantiate causation but added to watchlist.",
"entity_name": "NCAPH",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:58:24.621564Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ncaph has been classified as Red List (Low Evidence).",
"entity_name": "NCAPH",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:57:51.104593Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: NCAPH was added\ngene: NCAPH was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: NCAPH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCAPH were set to 27737959\nPhenotypes for gene: NCAPH were set to Microcephaly 23, primary, autosomal recessive, 617985\nAdded comment: Associated with Microcephaly 23 in OMIM and a possible gene for microcephaly in G2P. \r\n\r\nPMID: 27737959 (2016) - A homozygous missense variant in NCAPH (c.728C>T, p.Pro243Leu) was detected in a 42-year-old male with microcephaly (OFC -4.2 SD) and moderate ID. Functional studies indicated that although the variant did not affect cellular protein levels, it disrupted condensin-dependent mitotic chromosome integrity, providing supporting evidence for pathogenicity. Biallelic variants in other genes encoding subunits of the two condensin complexes result in a similar phenotype. \nSources: Literature",
"entity_name": "NCAPH",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:53:36.519418Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: NCAPD3 as Amber List (moderate evidence)",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:53:36.515764Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Additional cases, as well as a more significant pattern of microcephaly, are required before inclusion of NCAPD3 on a diagnostic panel.",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:53:36.496473Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ncapd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:52:57.022284Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: NCAPD3 was added\ngene: NCAPD3 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: NCAPD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCAPD3 were set to 27737959\nPhenotypes for gene: NCAPD3 were set to Microcephaly 22, primary, autosomal recessive, 617984\nReview for gene: NCAPD3 was set to AMBER\nAdded comment: Associated with Microcephaly 22 in OMIM and a possible gene for Microcephaly with short stature in G2P. \r\n\r\nPMID: 27737959 (2016) - Two unrelated cases. Compound heterozygous variants ([c.1783_1784delG, p.Val595Serfs*34];[c.382+14A>G, p.Ser129Metfs*1]) were detected in a 6-years-5-month-old male with microcephaly (OFC -5.4 SD). The second patient (aged 6-years-11-months-old) was less severely microcephalic (OFC -2.7 SD) but additionally had moderate developmental delay, seizures and lower limb hypertonia, and also harboured a homozygous missense variant in NCAPD3 (c.3458T>G, p.Glu1153Ala). \r\n\r\nFunctional studies indicated that both variants disrupted condensin-dependent mitotic chromosome integrity, providing supporting evidence for pathogenicity. Biallelic variants in other genes encoding subunits of the two condensin complexes result in a similar phenotype. \nSources: Literature",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:34:59.291641Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: NCAPD2.",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:34:50.041619Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: NCAPD2 as Amber List (moderate evidence)",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:34:50.036744Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least three unrelated pedigrees with the relevant phenotype.",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:34:50.000833Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ncapd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2020-07-31T15:33:46.712232Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: NCAPD2 was added\ngene: NCAPD2 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCAPD2 were set to 27737959; 28097321; 31056748\nPhenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive, 617983\nReview for gene: NCAPD2 was set to GREEN\nAdded comment: Associated with phenotype in OMIM and a possible gene for Microcephaly with short stature in G2P. \r\n\r\nPMID: 27737959 (2016) - A homozygous splice site variant (c.4120+2T>C, p.Asp1374Glyfs*29) in NCAPD2 was detected in a 3-year-old male with severe microcephaly (OFC -11.9 SD), severe ID, autistic-like behaviours, and no speech. The variant was found in a heterozygous state in both unaffected parents and was not present in the ExAC database. Functional studies indicated that the variant disrupted condensin-dependent mitotic chromosome integrity, providing supporting evidence for pathogenicity. \r\n\r\nPMID: 28097321 (2017) - In two affected cousins from a consanguineous family with mild ID, intrauterine growth retardation, short stature, and microcephaly. Homozygous missense variants were found in NCAPD2 (c.23T>C, p.Phe8Ser), but also in ENO2 (c.710C>T, p.Thr237Met). Variants segregated with disease in the family, but no further functional studies were undertaken of the variants or patient cells. \r\n\r\nPMID: 31056748 (2019) - In a 13-year-old female with severe microcephaly (OFC < -3), mild ID (IQ 59), poor learning performance, sloping forehead and reduced cerebral cortex size, exome sequencing revealed a homozygous variant in NCAPD2 (c.3477+2T>C, p.Gly1160Valfs*16). Progressive microcephaly was also apparent in a sibling of the proband, a male fetus which was terminated at 34 weeks of pregnancy. The same homozygous variant was identified in the fetus, while parents were heterozygotes and an unaffected brother was homozygous for the other allele. No further functional studies of the variant or patient cells were performed. \nSources: Literature",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2020-07-14T13:35:25.440765Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Variants reported in four unrelated individuals with severe/profound intellectual disability, microcephaly, and seizures. Affected individuals were microcephalic at birth or developed postnatal microcephaly ranging from -3.6 to -4.0 SD. Functional studies demonstrate variants result in reduction of ADARB1 product activity or changes in splicing (PMID: 32220291). Homozygous knockout mice presented with seizures and early death, supporting the role of ADARB1 in brain function (PMID: 10894545).\r\n\r\nGene is associated with phenotype in OMIM and G2P. \nSources: Literature; to: Gene is associated with phenotype in OMIM and G2P.\r\n\r\nPMID: 32220291 - Bi-allelic variants reported in four unrelated individuals with severe/profound intellectual disability, microcephaly, and seizures. Functional studies demonstrate variants result in reduction in ADARB1 product activity or changes in splicing. \r\nPMID: 10894545 - Homozygous knockout mice presented with siezures and early death, supporting the role of ADARB1 in brain function\r\n\r\nThis gene has also been added to the Genetic Epilepsy and Intellectual Disability panels with a suggested Green classification at the next major review. ",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:22:29.584703Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ADARB1.",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:21:59.818108Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: ADARB1 as Amber List (moderate evidence)",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:21:59.812743Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T13:21:59.772255Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: adarb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:37:39.160839Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ADARB1 was added\ngene: ADARB1 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADARB1 were set to 32220291\nPhenotypes for gene: ADARB1 were set to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862\nReview for gene: ADARB1 was set to GREEN\nAdded comment: Variants reported in four unrelated individuals with severe/profound intellectual disability, microcephaly, and seizures. Affected individuals were microcephalic at birth or developed postnatal microcephaly ranging from -3.6 to -4.0 SD. Functional studies demonstrate variants result in reduction of ADARB1 product activity or changes in splicing (PMID: 32220291). Homozygous knockout mice presented with seizures and early death, supporting the role of ADARB1 in brain function (PMID: 10894545).\r\n\r\nGene is associated with phenotype in OMIM and G2P. \nSources: Literature",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:19:22.559919Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TTC5: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:17:00.463852Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TTC5: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:16:37.660627Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: TTC5 as Amber List (moderate evidence)",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:16:37.653120Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: ttc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:16:25.612031Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TTC5 was added\ngene: TTC5 was added to Severe microcephaly. Sources: Literature\nfor-review tags were added to gene: TTC5.\nMode of inheritance for gene: TTC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC5 were set to 29302074; 32439809\nPhenotypes for gene: TTC5 were set to Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system\nReview for gene: TTC5 was set to GREEN\nAdded comment: Not associated with a relevant phenotype in OMIM and as probable Gen2Phen gene for TTC5-associated neurodevelopmental disorder. At least 7 cases with biallelic variants. \nSources: Literature",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-06-22T14:19:38.805095Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: TMX2 as Green List (high evidence)",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-06-22T14:19:38.801774Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Primary microcephaly, cortical malformation and epileptic encephalopathy. At least 7 variants reported in at least 9 unrelated cases of Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730 (PMID 31735293; 31270415).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-06-22T14:19:38.759864Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Green List (High Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-06-22T14:08:04.610007Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TMX2 was added\ngene: TMX2 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMX2 were set to 31586943; 31735293; 31270415\nPhenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730\nReview for gene: TMX2 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:04:34.214516Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C7orf43 was added\ngene: C7orf43 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C7orf43 were set to 30715179\nPhenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM#\t618351\nReview for gene: C7orf43 was set to AMBER\nAdded comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model. HGNC approved name: MAP11. \nSources: Literature",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2020-04-21T14:16:41.807141Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.6",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: CEP55 as Green List (high evidence)",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-21T14:16:41.799507Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.6",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Green List (High Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-21T14:16:34.466525Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "changed review comment from: PMID:32100459 (Barrie et al., 2020) describe 7 living indivduals (5 families) with biallelic CEP55 variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all have a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants. Three siblings are homozygous for a consensus splice site variant near the end of the gene. These affected girls all have severely delayed development, microcephaly, and varying degrees of lissencephaly/pachygyria. The authors suggest that individuals compound het for missense + nonsense variants in CEP55 have a viable phenotype (compared to lethal MARCH phenotype).; to: PMID:32100459 (Barrie et al., 2020) describe 7 living indivduals (5 families) with biallelic CEP55 variants (compound het, or homozygous splice site variant). Three sisters (Patients 5,6,7) have severe microcephaly (-7.1 SD, -5.5, -5.5). An additional 3 unrelated patients (Patients 1,2,3) have microcephaly scores of -2 SD, -2.7 SD, and Patient 4 has borderline microcephaly. Severe microcephaly (NHS Test Directory) is defined as having an occipitofrontal circumference (OFC) beyond 3 standard deviations below the mean for age. There are 4 unrelated cases which meet this threshold (3 sisters) or are close to this threshold (3 unrelated patients) and therefore on balance have rated as Green awaiting further GLH review.",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-21T14:00:06.620416Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: CEP55: PMID:32100459 (Barrie et al., 2020) describe 7 living indivduals (5 families) with biallelic CEP55 variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all have a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants. Three siblings are homozygous for a consensus splice site variant near the end of the gene. These affected girls all have severely delayed development, microcephaly, and varying degrees of lissencephaly/pachygyria. The authors suggest that individuals compound het for missense + nonsense variants in CEP55 have a viable phenotype (compared to lethal MARCH phenotype).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-04-21T14:00:00.797238Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: CEP55 was added\ngene: CEP55 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP55 were set to 32100459\nPhenotypes for gene: CEP55 were set to microcephaly, speech delays, and bilateral toe syndactyly\nReview for gene: CEP55 was set to GREEN\nAdded comment: Added to Microcephaly panel on advice from Helen Brittain, Genomics England Clinical Team. Phenotype of living individuals described in PMID:32100459 (Barrie et al., 2020) includes microcephaly. \nSources: Literature",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:10:45.319702Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-11T11:14:43.534696Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-11T11:13:32.081872Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.79",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-27T15:16:00.851558Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ZNHIT3: Added comment: Gene rated Red- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature; Changed rating: RED",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:15:37.401569Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: UFC1 as Green List (high evidence)",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:15:37.398221Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene rated Green- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:15:37.382804Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ufc1 has been classified as Green List (High Evidence).",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:14:58.097708Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: UFM1: Gene rated Green this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:14:21.082986Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:14:15.253289Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: UBA5 as Green List (high evidence)",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:14:15.248285Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene rated Green- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:14:15.223054Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: uba5 has been classified as Green List (High Evidence).",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:13:44.439049Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Gene rated Red- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature; to: Gene rated Green- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:13:19.741626Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: UBA5: Changed rating: GREEN",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:12:58.887572Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: UBA5: Added comment: Gene rated Red- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature; Changed rating: RED",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:12:40.868274Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CCDC88A: Changed rating: AMBER",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:12:23.029783Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: PCLO: Added comment: Gene rated Red- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature; Changed rating: RED",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:11:32.174147Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CCDC88A were set to ",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:11:18.885142Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CCDC88A as Amber List (moderate evidence)",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:11:18.881979Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene rated Amber- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2019-11-27T15:11:18.864863Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ccdc88a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2019-10-10T10:30:06.745238Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.74",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed gene: UFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29868776; Phenotypes: Neurodevelopmental disorder with spasticity and poor growth, 618076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2019-10-10T10:30:06.725667Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.74",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed gene: ZNHIT3: Rating: RED; Mode of pathogenicity: ; Publications: 28335020; Phenotypes: PEHO syndrome, 260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2019-10-10T10:30:06.706604Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.74",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed gene: PCLO: Rating: RED; Mode of pathogenicity: ; Publications: 25832664; Phenotypes: ?Pontocerebellar hypoplasia, type 3, 608027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-10-10T10:30:06.686992Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.74",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28931644, 29868776, 27545674; Phenotypes: Leukodystrophy, hypomyelinating, 14, 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-10-10T10:30:06.667873Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.74",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 44, 617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-10-10T10:30:06.647998Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.74",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26917597, 30392057; Phenotypes: ?PEHO syndrome-like, 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2019-10-10T09:39:28.759725Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.73",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Primary Microcephaly - Microcephalic Dwarfism Spectrum; Severe microcephaly to Primary Microcephaly - Microcephalic Dwarfism Spectrum; Severe microcephaly; R88",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-06T15:00:24.790258Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: KIF1BP.",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2019-09-06T15:00:17.033925Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KIF1BP: Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBP",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2019-09-06T14:10:57.834185Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: IARS: Added new-gene-name tag, new approved HGNC gene symbol for IARS is IARS1",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2019-09-06T14:00:36.946281Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: QARS.",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2019-09-06T14:00:28.966836Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: QARS: Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2019-08-19T16:58:29.199409Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on publications: review from Geoff Woods: 5 families reported in PMID 30552426 and 29868776",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2019-08-19T16:58:29.183247Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: UFC1 were set to 26917597",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2019-08-19T16:02:40.935342Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ZNHIT3 were set to ",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2019-08-19T16:01:48.837907Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PCLO were set to ",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-08-19T16:00:14.879699Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: UBA5 were set to ",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-08-19T15:52:23.657231Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: UFC1 were set to ",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2019-08-05T13:34:51.462464Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.67",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: IARS.",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2019-08-05T13:34:39.705481Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.67",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: IARS",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:22:11.276663Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to Region: ISCA-37501-Loss.",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2019-07-29T16:21:52.826566Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Haploinsufficiency Score for ISCA-37425-Gain was changed from to None.\nSource NHS GMS was added to Region: ISCA-37425-Gain.",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2019-07-29T16:21:38.117227Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Triplosensitivity Score for ISCA-37408-Loss was changed from to None.\nSource NHS GMS was added to Region: ISCA-37408-Loss.",
"entity_name": "ISCA-37408-Loss",
"entity_type": "region"
},
{
"created": "2019-07-29T16:21:26.124969Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Triplosensitivity Score for ISCA-37406-Loss was changed from to None.\nSource NHS GMS was added to Region: ISCA-37406-Loss.",
"entity_name": "ISCA-37406-Loss",
"entity_type": "region"
},
{
"created": "2019-07-29T16:21:04.265816Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Triplosensitivity Score for ISCA-37390-Loss was changed from to None.\nSource NHS GMS was added to Region: ISCA-37390-Loss.",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2019-07-29T16:20:45.463707Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed Region: ISCA-37390-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2019-07-29T16:20:35.294370Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed Region: ISCA-37406-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ISCA-37406-Loss",
"entity_type": "region"
},
{
"created": "2019-07-29T16:20:28.650330Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed Region: ISCA-37408-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ISCA-37408-Loss",
"entity_type": "region"
},
{
"created": "2019-07-29T16:20:19.834580Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed Region: ISCA-37425-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2019-07-29T16:19:53.833238Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on Region: ISCA-37501-Loss: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this region Green",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2019-07-29T16:18:02.837249Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WDFY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.821892Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TUBGCP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TUBGCP3",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.806043Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TRMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.790641Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.775680Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.759809Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.741410Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.723449Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NSMCE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.703989Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.683158Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.609578Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.594318Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: EOMES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EOMES",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.579108Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.562237Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CENPE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.545420Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDK6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.527143Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.509708Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ATRIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.492174Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ANKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.473933Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AGMO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.456291Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ZNF335: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.437068Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: WDR4: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber; Changed rating: AMBER",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.423078Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.404783Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RMI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RMI1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.384529Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.368166Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.350887Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MRE11: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.337742Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.320618Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: COASY: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.308032Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.292730Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: XRCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.276565Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.260175Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WDR62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.242031Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.226143Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.209045Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TRMT10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.192206Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TRAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.176651Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.159729Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: STIL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.143606Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.128024Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.112527Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.096558Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.081215Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.063960Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.047460Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.027956Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:02.008714Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.990033Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RBBP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.973212Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.955958Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.940491Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.925147Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.910075Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.892958Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.876951Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.861699Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.843153Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.825670Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.809336Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.790180Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.774100Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.757828Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.740500Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.725627Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.706854Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MSMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.688427Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MFSD2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.673446Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.658175Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.638182Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.621154Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.601841Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.585732Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.569600Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: IER3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.549846Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: IARS: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.532057Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.514663Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GMNN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.494055Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.475169Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.456561Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.437574Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.421760Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.406820Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.388585Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.371211Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.355938Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.337506Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.321315Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.302120Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.282998Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.268203Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.252559Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.236258Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DONSON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.219937Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.201835Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.182745Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DDX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.166841Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CTNNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.148258Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.131982Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.115590Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.095271Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.077778Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.061305Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CEP135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.045212Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:01.028434Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.995089Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.975301Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.956203Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.938487Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.923189Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.903007Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.882460Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.866261Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.849835Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ASPM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.833707Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PRUNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.818188Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KNL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KNL1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:18:00.796817Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:44.001134Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to UFC1.",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.924837Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZNHIT3.",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.852566Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PCLO.",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.779344Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to UFM1.",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.702825Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to UBA5.",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.629018Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CCDC88A.",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.550009Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WDFY3.",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.478591Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TUBGCP3.",
"entity_name": "TUBGCP3",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.402746Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TRMT1.",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.325492Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SASS6.",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.252063Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PPP1R15B.",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.175814Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PLAA.",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.102053Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PHC1.",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:43.029116Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NSMCE2.",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.955140Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NIN.",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.873618Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FANCM.",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.793888Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ERCC5.",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.722353Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to EOMES.",
"entity_name": "EOMES",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.648426Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DNA2.",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.578375Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CENPE.",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.507821Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CDK6.",
"entity_name": "CDK6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.437697Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CDC6.",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.363247Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ATRIP.",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.291109Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ANKLE2.",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.220200Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AGMO.",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.147949Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZNF335.",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:42.078588Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WDR4.",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.934768Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TAF13.",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.864738Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RMI1.",
"entity_name": "RMI1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.787641Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RAD51C.",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.712983Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to QARS.",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.641582Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MRE11.",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.535679Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CRIPT.",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.466860Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to COASY.",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.394159Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ZEB2.",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.321398Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to XRCC4.",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.250145Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WDR73.",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.179339Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WDR62.",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.102718Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TUBGCP6.",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:41.034194Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TUBGCP4.",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.966128Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TRMT10A.",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.892067Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TRAIP.",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.809346Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TOP3A.",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.707701Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STIL.",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.620210Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STAMBP.",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.532754Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SMC3.",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.449914Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SMC1A.",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.366773Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLX4.",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.272073Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC9A6.",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.194396Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC25A19.",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.114513Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RTTN.",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:40.025088Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RPL10.",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.952720Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.878579Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RBBP8.",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.805855Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RAD21.",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.717249Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PQBP1.",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.629009Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to POC1A.",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.547161Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PNKP.",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.460993Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PLK4.",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.381672Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PDHA1.",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.295301Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PCNT.",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.212107Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PALB2.",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.132879Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ORC6.",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:39.049421Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ORC4.",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.966852Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ORC1.",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.890460Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NIPBL.",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.814581Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NHEJ1.",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.733656Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NDE1.",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.645507Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NBN.",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.569106Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MYCN.",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.484012Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MSMO1.",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.400697Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MFSD2A.",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.325369Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MCPH1.",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.247009Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LIG4.",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.170436Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LARP7.",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.095762Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF11.",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:38.028321Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to IGF1R.",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.897724Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to IGF1.",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.818617Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to IER3IP1.",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.747425Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to IARS.",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.679327Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HDAC8.",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.604271Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GMNN.",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.531713Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FANCL.",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.458006Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FANCI.",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.387472Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FANCG.",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.312173Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FANCF.",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.231468Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FANCE.",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.148419Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FANCD2.",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:37.069642Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FANCC.",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.984600Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FANCB.",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.914620Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FANCA.",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.845653Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ERCC8.",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.778138Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ERCC6.",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.712036Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ERCC4.",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.646912Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to EFTUD2.",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.578406Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DYRK1A.",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.512286Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DPP6.",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.444651Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DONSON.",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.374719Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DIAPH1.",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.307947Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DHCR7.",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.233102Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DDX11.",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.165806Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CTNNB1.",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.097769Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CREBBP.",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:36.021864Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CKAP2L.",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.939043Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CIT.",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.860867Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CEP63.",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.778039Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CEP152.",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.693726Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CEP135.",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.621422Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CENPJ.",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.537821Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CENPF.",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.463245Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CDT1.",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.372481Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CDK5RAP2.",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.297430Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CASK.",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.209892Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to BRIP1.",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.129986Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to BRCA2.",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:35.050921Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to BLM.",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:34.972164Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ATRX.",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:34.874941Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ATR.",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:34.764929Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ASPM.",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:34.680828Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PRUNE1.",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:34.598360Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KNL1.",
"entity_name": "KNL1",
"entity_type": "gene"
},
{
"created": "2019-07-29T16:08:34.517695Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF1BP.",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:55:44.206058Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). it was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green \nSources: Expert list; to: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). It was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green \r\nSources: Expert list",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:54:39.053703Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: UFC1: Changed rating: GREEN",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:54:28.493242Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: UFC1 was added\ngene: UFC1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth, 618076; microcephaly\nReview for gene: UFC1 was set to AMBER\nAdded comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). it was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green \nSources: Expert list",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:47:28.791346Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ZNHIT3 was added\ngene: ZNHIT3 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565; microcephaly\nReview for gene: ZNHIT3 was set to GREEN\nAdded comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green \nSources: Expert list",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:30:18.141491Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green. \nSources: Expert list; to: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green.\r\nSources: Expert list",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:29:03.639674Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PCLO was added\ngene: PCLO was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCLO were set to Pontocerebellar hypoplasia, type 3, 608027\nReview for gene: PCLO was set to GREEN\nAdded comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green \nSources: Expert list",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:22:23.783593Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: UFM1 as Green List (high evidence)",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:22:23.780179Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and PMIDs as recommended during the call and in light of evidence as evidence to gene can be upgraded to Green",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:22:23.761522Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ufm1 has been classified as Green List (High Evidence).",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:20:32.297981Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on publications: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019 : added PMIDs as recommended to support rating of gene to be Green",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:20:32.282946Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: UFM1 were set to ",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:16:48.817712Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507 to PEHO syndrome-like, 617507; microcephaly",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:16:35.312479Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, 617899 to Leukodystrophy, hypomyelinating, 14, 617899; microcephaly",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:16:08.432219Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: UFM1 was added\ngene: UFM1 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899\nReview for gene: UFM1 was set to GREEN\nAdded comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green. \nSources: Expert list",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:13:15.151740Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: UBA5 was added\ngene: UBA5 was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132\nReview for gene: UBA5 was set to GREEN\nAdded comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green. \nSources: Expert list",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-07-29T15:09:30.203028Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CCDC88A was added\ngene: CCDC88A was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC88A were set to PEHO syndrome-like, 617507\nReview for gene: CCDC88A was set to GREEN\nAdded comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green. \nSources: Expert list",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2019-07-19T13:44:36.129799Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.50",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "Classified gene: PALB2 as Amber List (moderate evidence)",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-07-19T13:44:36.126994Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.50",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As per structural neurological working group webex on 11th July 2019",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-07-19T13:44:36.106412Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.50",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "Gene: palb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-07-19T13:44:10.495113Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.49",
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-05-14T13:51:50.311016Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.48",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TRMT1 was added\ngene: TRMT1 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRMT1 were set to 30289604\nPhenotypes for gene: TRMT1 were set to Non‐syndromal congenital microcephaly\nReview for gene: TRMT1 was set to RED\nAdded comment: Added TRMT1 to the microcephaly panel based on PMID:30289604 (Blaesius et al., 2018) who report 4 patients from 2 unrelated consanguineous Pakistani families with homozygous variants in TRMT1 and intellectual disability. Non‐syndromal microcephaly was diagnosed at birth in three of the patients (V:2 from Family 1 (OFC -4.9 SD), and III.3 (OFC -4.1 SD) and III.4 (OFC -4 SD) from Family 2). The authors note that the clinical features are reminiscent of autosomal recessive primary microcephaly (MCPH). Rated as Red awaiting further cases. \nSources: Literature",
"entity_name": "TRMT1",
"entity_type": "gene"
},
{
"created": "2019-01-28T10:00:09.746612Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2019-01-24T17:43:41.793006Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified Region: ISCA-37501-Loss as Green List (high evidence)",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2019-01-24T17:43:41.785956Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Region: isca-37501-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2019-01-24T15:55:08.806266Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Region: ISCA-37501-Loss was added\nRegion: ISCA-37501-Loss was added to Severe microcephaly. Sources: Expert list\nMode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37501-Loss were set to 20206336; 22052739\nPhenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss\nReview for Region: ISCA-37501-Loss was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2018-12-17T16:02:45.695565Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.44",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Primary Microcephaly - Microcephalic Dwarfism Spectrum; Severe microcephaly; GMS R88 to Primary Microcephaly - Microcephalic Dwarfism Spectrum; Severe microcephaly",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-12-03T11:17:05.578296Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: COASY were set to 30089828",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2018-12-03T11:15:45.630233Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: COASY: added watchlist tag",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2018-12-03T11:15:16.862548Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: COASY.",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2018-12-03T11:12:31.955284Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: COASY as Amber List (moderate evidence)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2018-12-03T11:12:31.953131Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene. Rated Amber until more cases on gene and disease association are reported.",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2018-12-03T11:12:31.940946Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: coasy has been classified as Amber List (Moderate Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2018-12-03T11:04:42.388873Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: COASY was added\ngene: COASY was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COASY were set to 30089828\nPhenotypes for gene: COASY were set to Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis\nReview for gene: COASY was set to AMBER\nAdded comment: From Dijk et al. (2018) PMID: 30089828 variants in the gene Coenzyme A (CoA) synthase (COASY) gene, an enzyme essential in CoA synthesis. A single variant was identified in 4 individuals in 2 unrelated families with PCH, prenatal onset microcephaly, and arthrogryposis. In both families, the variant c.[1549_1550delAG]; [1486-3 C>G] segregated wth the phenotype. No CoA synthase protein was detected in patient cells by immunoblot analysis and CoA synthase activity was virtually absent. Partial CoA synthase defects were previously described by Dusi et al. (2014) PMID: 24360804 as a cause of COASY Protein-Associated Neurodegeneration (CoPAN), a type of Neurodegeneration and Brain Iron Accumulation (MIM: 615643). Dijk et al. (2018) PMID: 30089828 demonstrate that near complete loss of function variants in COASY are associated with lethal PCH and arthrogryposis. \nSources: Literature",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:23:35.044445Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.39",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from Primary Microcephaly - Microcephalic Dwarfism Spectrum to Primary Microcephaly - Microcephalic Dwarfism Spectrum; Severe microcephaly; GMS R88",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-12T13:50:58.072801Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.38",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel name changed from Primary Microcephaly - Microcephalic Dwarfism Spectrum to Severe microcephaly\nList of related panels changed from to Primary Microcephaly - Microcephalic Dwarfism Spectrum\nPanel types changed to Rare Disease 100K; GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-09-07T16:49:27.413847Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": "1.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Region: ISCA-37425-Gain was added\nRegion: ISCA-37425-Gain was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37425-Gain were set to 23913520; 23599694\nPhenotypes for Region: ISCA-37425-Gain were set to Microcephaly, short stature and developmental delay; short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2018-09-07T16:49:27.376197Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": "1.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Region: ISCA-37390-Loss was added\nRegion: ISCA-37390-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37390-Loss were set to 11238681; 15635506\nPhenotypes for Region: ISCA-37390-Loss were set to 123450; PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2018-09-07T16:49:27.338195Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": "1.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Region: ISCA-37406-Loss was added\nRegion: ISCA-37406-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37406-Loss were set to 10573006; 16783566\nPhenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543",
"entity_name": "ISCA-37406-Loss",
"entity_type": "region"
},
{
"created": "2018-09-07T16:49:27.300096Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": "1.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Region: ISCA-37408-Loss was added\nRegion: ISCA-37408-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392\nPhenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect",
"entity_name": "ISCA-37408-Loss",
"entity_type": "region"
},
{
"created": "2018-08-28T11:56:08.010495Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified RMI1 as Amber List (moderate evidence)",
"entity_name": "RMI1",
"entity_type": "gene"
},
{
"created": "2018-08-28T11:55:56.800579Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "RMI1",
"entity_type": "gene"
},
{
"created": "2018-08-28T11:41:50.274698Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified TOP3A as Green List (high evidence)",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2018-08-28T11:41:36.771833Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "TOP3A",
"entity_type": "gene"
},
{
"created": "2018-07-16T08:56:53.387685Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified WDR4 as Amber List (moderate evidence)",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2018-04-04T15:35:48.310045Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of WDR4",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2018-03-08T15:46:29.535024Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified MRE11 as Amber List (moderate evidence)",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2018-03-08T15:45:50.995106Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of MRE11",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2018-03-08T15:45:03.720683Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2017-12-19T12:20:50.773589Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified IARS as Green List (high evidence)",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2017-12-19T12:19:57.098842Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of IARS",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2017-12-19T12:19:44.741853Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2017-12-18T13:12:52.060467Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on EOMES",
"entity_name": "EOMES",
"entity_type": "gene"
},
{
"created": "2017-12-18T13:12:46.850247Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "EOMES",
"entity_type": "gene"
},
{
"created": "2017-11-02T14:30:48.493000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed FANCM",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2017-09-05T10:17:31.304000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified RPL10 as green",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2017-09-05T10:17:09.651000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on RPL10",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2017-09-05T10:16:21.569000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added RPL10 to panel",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2017-09-05T10:16:18.703000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed RPL10",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2017-09-04T08:31:11.667000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified DONSON as green",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2017-09-04T08:26:54.487000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed DONSON",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2017-08-28T09:42:45.821000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified PLAA as red",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2017-08-28T09:40:42.515000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PLAA",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2017-08-28T09:39:52.585000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PLAA",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2017-08-28T09:38:43.174000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "added PLAA to panel",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2017-08-28T09:38:42.288000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed PLAA",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2017-08-15T14:20:34.594000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified TAF13 as amber",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2017-08-15T14:17:23.018000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added TAF13 to panel",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2017-08-15T14:17:15.539000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed TAF13",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2017-08-15T14:09:55.291000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified WDFY3 as red",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2017-08-15T14:08:43.959000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "added WDFY3 to panel",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2017-08-15T14:08:42.977000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed WDFY3",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2017-08-15T14:05:28.734000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Olivia Niblock",
"item_type": "entity",
"text": "added DONSON to panel",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2017-08-15T14:05:27.813000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Olivia Niblock",
"item_type": "entity",
"text": "reviewed DONSON",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2017-08-14T15:12:45.626000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed PRUNE",
"entity_name": "PRUNE",
"entity_type": "gene"
},
{
"created": "2017-07-31T07:51:42.681000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of RAD51C",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2017-07-31T07:51:30.521000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified RAD51C as amber",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2017-07-31T07:51:30.520000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on RAD51C",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2017-03-21T12:35:00.293000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified MSMO1 as green",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2017-03-21T12:35:00.292000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on MSMO1",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2017-03-05T13:56:50.005000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PRUNE",
"entity_name": "PRUNE",
"entity_type": "gene"
},
{
"created": "2017-03-04T18:53:35.484000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "edited their review of PDHA1",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2017-03-04T18:51:31.043000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "marked PDHA1 as ready",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2017-03-04T18:51:27.011000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "classified PDHA1 as green",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2017-03-04T18:51:06.028000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "added PDHA1 to panel",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2017-03-04T18:51:05.201000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed PDHA1",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2017-03-04T18:44:26.487000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "marked PRUNE as ready",
"entity_name": "PRUNE",
"entity_type": "gene"
},
{
"created": "2017-03-04T18:44:16.439000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "classified PRUNE as green",
"entity_name": "PRUNE",
"entity_type": "gene"
},
{
"created": "2017-03-04T18:43:45.221000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "added PRUNE to panel",
"entity_name": "PRUNE",
"entity_type": "gene"
},
{
"created": "2017-03-04T18:43:44.395000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed PRUNE",
"entity_name": "PRUNE",
"entity_type": "gene"
},
{
"created": "2017-03-02T16:04:01.078000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "promoted panel to version 1",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-03-02T15:52:26.236000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified DIAPH1 as green",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2017-03-02T15:49:11.266000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified SMC1A as green",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2017-03-02T15:11:11.466000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SMC1A",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2017-03-02T15:07:30.042000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of SMC1A",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2017-03-02T14:55:58.704000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified DPP6 as green",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2017-03-02T13:28:01.069000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified HDAC8 as green",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2017-03-02T13:15:49.639000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on HDAC8",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2017-03-02T13:06:39.276000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on HDAC8",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2017-03-02T13:04:44.849000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified NIPBL as green",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2017-03-02T13:03:47.606000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on NIPBL",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2017-03-02T12:44:44.521000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SMC1A",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2017-03-02T12:43:25.256000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified SMC3 as green",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2017-03-02T12:35:17.831000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SMC3",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2017-03-02T12:30:46.563000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified RAD21 as green",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2017-03-02T12:00:44.882000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on RAD21",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2017-03-02T12:00:27.164000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on RAD21",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2017-03-02T12:00:13.667000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on RAD21",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2017-03-02T11:33:23.555000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DPP6",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2017-03-02T11:31:32.572000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified POC1A as green",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2017-03-02T10:56:53.740000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DYRK1A",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2017-03-02T10:56:23.607000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified DYRK1A as green",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2017-03-02T10:54:11.816000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DYRK1A",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2017-03-02T10:49:31.422000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DYRK1A",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2017-03-02T10:31:55.191000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified CTNNB1 as green",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2017-03-02T10:29:28.556000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CTNNB1",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2017-03-02T09:27:34.363000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified RBBP8 as green",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2017-03-01T10:03:48.937000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified ZNF335 as amber",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2017-03-01T10:01:40.022000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ZNF335",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2017-02-28T16:42:26.328000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ZNF335",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2017-02-28T11:48:49.188000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ZNF335",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2017-02-28T11:24:06.920000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on WDR4",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2017-02-28T11:07:41.676000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified TRMT10A as green",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2017-02-28T11:04:14.756000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on TRMT10A",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2017-02-28T11:03:41.488000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on TRMT10A",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2017-02-28T11:03:22.620000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on TRMT10A",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2017-02-28T11:01:36.483000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on TRMT10A",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2017-02-28T10:29:57.356000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on RBBP8",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2017-02-28T10:29:45.935000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on RBBP8",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2017-02-28T09:53:49.755000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on RBBP8",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2017-02-28T09:53:32.370000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on RBBP8",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2017-02-27T16:53:51.024000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on POC1A",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2017-02-27T16:49:36.311000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on POC1A",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2017-02-27T16:49:25.383000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on POC1A",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2017-02-27T16:49:14.419000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on POC1A",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2017-02-27T16:48:57.634000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on POC1A",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2017-02-27T16:05:37.824000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PHC1",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2017-02-27T16:05:29.207000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PHC1",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2017-02-27T15:04:25.423000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on NSMCE2",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2017-02-27T14:44:35.780000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DPP6",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2017-02-27T14:16:18.799000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified DDX11 as green",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2017-02-27T14:13:18.226000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DDX11",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2017-02-27T12:02:31.233000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CDC6",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2017-02-20T14:56:00.733000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on TUBGCP3",
"entity_name": "TUBGCP3",
"entity_type": "gene"
},
{
"created": "2017-02-20T14:54:00.285000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on NSMCE2",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:45:34.661000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified ERCC5 as red",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:43:48.127000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ERCC5",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:43:33.756000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ERCC5",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:43:18.680000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "added ERCC5 to panel",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:43:17.686000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed ERCC5",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:29:42.886000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified ERCC4 as green",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:28:23.776000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ERCC4",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:24:23.870000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ERCC4",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:21:37.894000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "added ERCC4 to panel",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:21:37.219000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed ERCC4",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2017-02-09T11:35:01.987000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified FANCM as red",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2017-02-09T11:35:01.986000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on FANCM",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2017-02-09T09:38:53.523000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified WDR73 as green",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2017-02-07T10:44:28.298000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified CRIPT as amber",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2017-02-07T10:44:28.297000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CRIPT",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2017-02-07T10:29:55.240000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified KIAA1279 as green",
"entity_name": "KIAA1279",
"entity_type": "gene"
},
{
"created": "2017-02-07T10:27:31.256000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on KIAA1279",
"entity_name": "KIAA1279",
"entity_type": "gene"
},
{
"created": "2017-02-07T10:25:30.241000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified LARP7 as green",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2017-02-07T10:16:19.382000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of LARP7",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2017-02-07T10:15:48.507000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on LARP7",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2017-02-07T10:13:40.568000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of ATRX",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2017-02-07T10:12:12.947000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified ATRX as green",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2017-02-07T10:12:12.946000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ATRX",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:16:56.305000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked CREBBP as ready",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:15:48.983000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked MYCN as ready",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:14:02.704000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified MYCN as green",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:14:02.703000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on MYCN",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:12:08.328000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified CREBBP as green",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:12:08.327000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CREBBP",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:08.338000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed MYCN",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:08.013000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed KIAA1279",
"entity_name": "KIAA1279",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:07.673000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed CREBBP",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:07.355000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed ATRX",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:07.038000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed SLX4",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:06.716000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed RAD51C",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:06.388000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed PALB2",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:06.049000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed FANCL",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:05.729000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed FANCI",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:05.401000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed FANCG",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:05.085000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed FANCF",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:04.768000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed FANCE",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:04.451000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed FANCD2",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:04.131000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed FANCC",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:03.773000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed FANCB",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:03.453000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed FANCA",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:03.123000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed ERCC8",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:02.804000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed ERCC6",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:02.484000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed BRIP1",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2017-02-06T17:00:02.013000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "emma baple",
"item_type": "entity",
"text": "reviewed BRCA2",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2017-01-30T12:28:46.198000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on KIAA1279",
"entity_name": "KIAA1279",
"entity_type": "gene"
},
{
"created": "2017-01-19T11:09:37.013000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified PNKP as green",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2017-01-19T11:09:37.012000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PNKP",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2017-01-19T11:04:49.662000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on WDR73",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2017-01-19T11:00:31.511000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified SLC9A6 as green",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2017-01-19T10:58:37.158000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SLC9A6",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2017-01-19T10:54:24.813000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified IER3IP1 as green",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2017-01-19T09:39:51.008000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on IER3IP1",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2017-01-19T09:32:54.427000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on TRMT10A",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2017-01-19T09:30:01.568000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PPP1R15B",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2017-01-19T09:29:16.825000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified MSMO1 as red",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2017-01-19T09:29:16.824000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on MSMO1",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2017-01-17T14:59:22.727000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified POC1A as red",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2017-01-17T13:52:56.963000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified CRIPT as amber",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2017-01-17T13:48:49.640000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "added CRIPT to panel",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2017-01-17T13:48:47.945000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed CRIPT",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2017-01-17T13:47:18.352000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified QARS as amber",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2017-01-17T13:47:18.350000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on QARS",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2017-01-17T13:46:20.816000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified DIAPH1 as amber",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2017-01-16T13:48:22.356000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DIAPH1",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2017-01-12T13:47:07.076000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added QARS to panel",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2017-01-12T13:47:06.509000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed QARS",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:34:43.719000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CKAP2L as ready",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:34:38.573000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified CKAP2L as green",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:34:38.572000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on CKAP2L",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:30:06.009000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked STAMBP as ready",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:29:50.243000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified STAMBP as green",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:29:31.388000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added STAMBP to panel",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:29:30.910000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed STAMBP",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:22:16.943000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked NHEJ1 as ready",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:22:00.824000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added NHEJ1 to panel",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:22:00.336000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed NHEJ1",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:09:42.928000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added DDX11 to panel",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:09:42.458000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed DDX11",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:02:17.485000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked NBN as ready",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:02:06.944000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added NBN to panel",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2017-01-12T12:02:06.466000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed NBN",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:48:10.171000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ZEB2 as ready",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:47:59.777000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added ZEB2 to panel",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:47:59.300000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed ZEB2",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:39:35.614000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:39:20.365000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added DHCR7 to panel",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:39:19.931000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed DHCR7",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:34:36.619000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CIT as ready",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:34:32.593000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified CIT as green",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:34:16.192000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed CIT",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:31:50.597000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ANKLE2 as ready",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:31:35.119000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed ANKLE2",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:21:17.467000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked MFSD2A as ready",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:21:07.665000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified MFSD2A as green",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:20:55.772000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed MFSD2A",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:16:21.023000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed ZNF335",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:12:25.418000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked MCPH1 as ready",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:12:25.417000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on MCPH1",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:10:56.228000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CDK5RAP2 as ready",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:10:56.227000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on CDK5RAP2",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:10:10.177000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CASK as ready",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:09:52.037000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ASPM as ready",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:09:17.945000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked PCNT as ready",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:09:17.944000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on PCNT",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:08:21.318000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked RTTN as ready",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:08:13.002000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified RTTN as green",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:08:01.211000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed RTTN",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:02:28.192000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CASC5 as ready",
"entity_name": "CASC5",
"entity_type": "gene"
},
{
"created": "2017-01-12T11:02:03.952000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed CASC5",
"entity_name": "CASC5",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:47:25.013000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked STIL as ready",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:47:25.012000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on STIL",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:44:01.240000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked WDR62 as ready",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:44:01.239000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on WDR62",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:42:36.705000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CEP152 as ready",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:42:36.704000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on CEP152",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:40:33.869000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CENPJ as ready",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:40:29.649000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CENPJ as ready",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:40:29.646000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on CENPJ",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:28:50.265000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked NDE1 as ready",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:28:42.135000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified NDE1 as green",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:28:21.816000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed NDE1",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:18:16.432000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:17:54.624000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed BLM",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:11:49.392000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:11:41.043000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified LIG4 as green",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:11:30.596000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed LIG4",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:08:47.938000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked XRCC4 as ready",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:08:37.799000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified XRCC4 as green",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:08:23.880000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed XRCC4",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:06:31.822000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CENPF as ready",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:06:20.637000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified CENPF as green",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:06:10.067000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed CENPF",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:03:16.675000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TRAIP as ready",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:03:04.293000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified TRAIP as green",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2017-01-12T10:02:27.904000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed TRAIP",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:58:27.482000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TUBGCP4 as ready",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:58:20.552000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TUBGCP4 as ready",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:58:12.273000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified TUBGCP4 as green",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:57:59.457000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed TUBGCP4",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:55:47.115000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked PLK4 as ready",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:55:32.429000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified PLK4 as green",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:55:08.312000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed PLK4",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:52:13.588000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked TUBGCP6 as ready",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:51:58.782000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified TUBGCP6 as green",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:51:47.713000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed TUBGCP6",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:47:40.594000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked PQBP1 as ready",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:47:31.159000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added PQBP1 to panel",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:47:30.775000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed PQBP1",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:39:05.500000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked RNU4ATAC as ready",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:38:57.604000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified RNU4ATAC as green",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:38:44.713000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed RNU4ATAC",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:33:57.562000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked EFTUD2 as ready",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:33:54.038000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified EFTUD2 as green",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:23:09.756000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "added EFTUD2 to panel",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2017-01-12T09:23:09.295000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed EFTUD2",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:55:58.352000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked IGF1R as ready",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:55:04.667000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed IGF1R",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:44:26.760000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked IGF1 as ready",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:44:10.868000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed IGF1",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:28:11.747000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked KIF11 as ready",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:28:05.981000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified KIF11 as green",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:28:05.980000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "commented on KIF11",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:27:06.768000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked GMNN as ready",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:26:26.005000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified GMNN as green",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:26:10.524000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed GMNN",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:23:22.841000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed CDC6",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:19:25.280000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CDT1 as ready",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:19:17.657000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified CDT1 as green",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:19:06.209000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed CDT1",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:15:54.178000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ORC6 as ready",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:15:44.807000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified ORC6 as green",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:15:33.763000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed ORC6",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:12:49.602000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ORC4 as ready",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:12:36.043000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified ORC4 as green",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:12:22.349000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed ORC4",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:09:07.151000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ORC1 as ready",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:08:55.805000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified ORC1 as green",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:08:39.848000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified ORC1 as green",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2017-01-11T16:08:27.825000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed ORC1",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2017-01-11T15:11:34.104000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified CEP63 as green",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2017-01-11T15:11:17.859000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed CEP63",
"entity_name": "CEP63",
"entity_type": "gene"
},
{
"created": "2017-01-11T15:04:32.597000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed RBBP8",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2017-01-11T14:32:43.592000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ATRIP as ready",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2017-01-11T14:30:22.090000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked ATR as ready",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2017-01-11T14:30:19.862000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified ATR as green",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2017-01-11T14:30:04.612000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed ATR",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2017-01-11T14:19:29.552000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "marked CEP135 as ready",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2017-01-11T14:19:20.879000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified CEP135 as green",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2017-01-11T14:13:12.938000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "classified CEP135 as amber",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2017-01-11T14:13:00.238000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Alice Gardham",
"item_type": "entity",
"text": "reviewed CEP135",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2017-01-06T16:52:56.089000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on RNU4ATAC",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2017-01-03T13:57:13.885000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked DNA2 as ready",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2017-01-03T13:55:40.514000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DNA2",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2017-01-03T13:53:39.795000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DNA2",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2017-01-03T13:49:20.897000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked NIN as ready",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2017-01-03T10:57:44.682000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on NIN",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2017-01-03T10:20:48.651000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SLC25A19",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2017-01-03T10:17:43.843000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CKAP2L",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2017-01-03T10:17:07.444000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on KIF11",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2017-01-03T10:16:10.143000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CASK",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2016-12-13T12:12:04.183000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PHC1",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2016-12-13T12:11:48.133000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DPP6",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2016-12-13T12:10:08.017000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on WDR4",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2016-12-13T11:16:20.361000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CASC5",
"entity_name": "CASC5",
"entity_type": "gene"
},
{
"created": "2016-12-13T11:04:44.485000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CENPE",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2016-12-13T10:55:56.207000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SASS6",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2016-12-13T10:54:44.297000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on POC1A",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2016-12-13T10:52:36.096000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on NDE1",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2016-12-13T10:51:46.692000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CIT",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2016-12-13T10:43:59.699000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CDK6",
"entity_name": "CDK6",
"entity_type": "gene"
},
{
"created": "2016-12-13T10:43:08.280000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ATRIP",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2016-12-13T10:42:42.600000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ASPM",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2016-12-13T10:41:37.603000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ASPM",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2016-12-13T10:40:31.509000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on AGMO",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2016-11-07T20:40:32.789000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "added LARP7 to panel",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2016-11-07T20:40:32.688000Z",
"panel_name": "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
"panel_id": 162,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "reviewed LARP7",
"entity_name": "LARP7",
"entity_type": "gene"
}
]