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[
{
"created": "2024-05-01T12:32:55.573837Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.10",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel version 3.9 has been signed off on 2024-05-01",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-12-05T11:30:28.171051Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NSD2 were changed from to Rauch-Steindl syndrome, OMIM:619695; Rauch-Steindl syndrome, MONDO:0859219",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2023-10-17T09:42:33.076592Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: DAW1",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2023-10-17T09:42:12.184669Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: DAW1.",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2023-10-16T20:24:36.053024Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:618941, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2023-10-16T19:08:12.456105Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: CCDC32.",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2023-10-16T19:08:00.351617Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: CCDC32",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2023-08-03T09:06:22.267907Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: LETM1 were set to ",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2023-08-03T08:50:17.956482Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: LETM1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2023-08-03T08:50:02.389840Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: LETM1 were changed from to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2023-03-22T15:59:17.204716Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T15:58:23.394208Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "3.0",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-31T13:13:34.444544Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: DNAAF2.",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:13:04.987970Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: CFC1.\nTag Q2_21_expert_review was removed from gene: CFC1.",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:12:31.561337Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: TTC25.",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:10:55.536161Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: NODAL.\nTag Q3_22_expert_review was removed from gene: NODAL.",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:10:20.767636Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: CFAP52.",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:09:58.455049Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: CFAP45.",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:07:18.212354Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: DNAAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:07:18.195456Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:07:18.180632Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:07:18.163275Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:07:18.147057Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CFAP52: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:07:18.132027Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CFAP45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:06:51.538470Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TTC25.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:06:51.481346Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Red was added to NODAL.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:06:51.419719Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to CFAP52.\nSource NHS GMS was added to CFAP52.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2023-01-31T13:06:51.355211Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to CFAP45.\nSource NHS GMS was added to CFAP45.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2022-11-30T15:17:57.690447Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 2.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T15:17:16.496756Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "2.0",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-31T12:07:07.089517Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GDF1 were changed from Right atrial isomerism, 208530 to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2022-10-25T14:25:36.155485Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.53",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.; to: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, according to the recommendations from Helen Brittain (Genomics England, Clinical Fellow).",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-25T14:05:36.420622Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.53",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: DAW1 as Amber List (moderate evidence)",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-25T14:05:36.414115Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.53",
"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": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-25T14:05:36.365879Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.53",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: daw1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-25T12:59:14.113556Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.52",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder. \nSources: Literature; to: DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder. Supportive functional studies and a mouse model were also reported in PMID: 36074124.\r\nSources: Literature",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-25T12:54:58.026416Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.52",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: DAW1 was added\ngene: DAW1 was added to Laterality disorders and isomerism. Sources: Literature\nQ4_22_MOI, Q4_22_promote_green tags were added to gene: DAW1.\nMode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAW1 were set to 36074124; 28991257\nPhenotypes for gene: DAW1 were set to motile ciliopathy laterality disorder\nReview for gene: DAW1 was set to GREEN\nAdded comment: DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder. \nSources: Literature",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-14T09:33:47.345587Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: NODAL",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-10-05T23:31:00.392142Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.51",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: NODAL",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-10-05T23:30:39.062039Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.51",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_21_expert_review was removed from gene: NODAL.\nTag Q3_22_rating tag was added to gene: NODAL.\nTag Q3_22_expert_review tag was added to gene: NODAL.",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-07-13T16:06:44.850464Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: DAND5 was added\ngene: DAND5 was added to Laterality disorders and isomerism. Sources: Literature\nMode of inheritance for gene: DAND5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAND5 were set to 34215651\nPhenotypes for gene: DAND5 were set to Heterotaxy syndrome\nAdded comment: In a single individual with heterotaxy and congenital heart defects of L-R patterning, Bolkier et al., 2022 (PMID:34215651) identified a homozygous truncating (c.396_397dupCT) variant in the DAND5 gene. \nSources: Literature",
"entity_name": "DAND5",
"entity_type": "gene"
},
{
"created": "2022-07-13T15:48:11.515373Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TTC25 were changed from Ciliary dyskinesia, primary, 35, 617092 to Ciliary dyskinesia, primary, 35, OMIM:617092",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-13T15:47:46.844335Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.49",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TTC25 were set to 27486780",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-13T15:47:41.064887Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TTC25 as Amber List (moderate evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-13T15:47:41.059754Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Biallelic variants cause a primary ciliary dyskinesia which is associated with laterality defects - at least 6 unrelated families reported in literature (PMID: 27486780; 33715250; 33746037; 34215651)\r\nThis evidence now supports a Green rating on this panel and so this gene should be updated accordingly at the next GMS panel update.",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-13T15:47:41.023430Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-13T15:38:36.306449Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: TTC25.",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:17:46.625843Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PIH1D3",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:15:43.740996Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: PIH1D3.",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2022-05-07T22:34:37.824094Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: LRRC56.",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2022-05-07T19:47:52.515546Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: C11orf70.",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:11:46.156393Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: MNS1.",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:11:37.169248Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: MNS1.",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:11:30.279281Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Limited evidence, two studies, would prefer more evidence for upgrading to green.; to: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. ",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:11:13.265505Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: FOXJ1.",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:11:06.380183Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PKD1L1.",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:09:45.782278Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MNS1: Submitted on behalf of NHS GMS \"Limited evidence, two studies, would prefer more evidence for upgrading to green.\"",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:09:45.771308Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MNS1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Limited evidence, two studies, would prefer more evidence for upgrading to green.",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:09:45.757763Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: FOXJ1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:09:45.744962Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PKD1L1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:09:26.595697Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to FOXJ1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:09:26.545741Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to PKD1L1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2021-05-04T10:22:47.591090Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: BRWD1 as Red List (low evidence)",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2021-05-04T10:22:47.588211Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.45",
"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 only 1 case has situs inversus this gene has been added to this panel as a Red gene.\r\n\r\nAfter discussion with the Genomics England Clinical Team it was decided that this gene would be better suited for the Respiratory ciliopathies including non-CF bronchiectasis (Version 1.45). This gene has been added as an Amber gene with a recommendation for Green status on that panel.",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2021-05-04T10:22:47.565335Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: brwd1 has been classified as Red List (Low Evidence).",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2021-05-04T10:10:41.202627Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: NODAL",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2021-05-04T10:10:17.625704Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_expert_review tag was added to gene: NODAL.",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2021-05-04T10:04:54.842759Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: NKX2-5 were set to 25742962; 26805889",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2021-05-04T10:04:35.788193Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.43",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: NKX2-5: Added comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype.\r\n\r\nPMID: 12414819 describes 2 unrelated families. Family 1: 4 family members with variant in NKX2-5 had atrial septum defect. One of these family members was also diagnosed with polyspenia, midline symmetrical liver, ascending colon and caecum were shifted to the midline and forwards with the small intestine on the left. Family 2: 3 affected family members had atrial septum defect.\r\n\r\nPMID: 25118008 describes a proband with a frameshift variant in NKX2-5 with the following phenotypes: double outlet right ventricle, common AV canal, total anomalous pulmonary venous connection, asplenia, failure to thrive and short stature. The proband also had distorted organ position and liver was centrally located and spleen was not identied at 1 week of age. Also had intestinal malformation and underwent Ladd procedure and gastrostomy tube placement at 3 weeks. The authors in this paper notes that NKX2-5 variants are associated with cardiac malformations that are commonly seen in patients with heterotaxy (i.e. transposition of great artieries and double outlet right ventricle) and also with asplenia in some patients.\r\n\r\nAfter discussion with the Genomics England Clinical Team it was decided that this gene should remain Amber on this panel.; Changed rating: AMBER; Changed publications: 12414819, 25118008",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2021-04-14T15:01:35.835575Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.43",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: NODAL were set to 19064609",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:43:22.269651Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: DNAAF2: This gene is associated with a relevant disease in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:42:43.072699Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: DNAAF2.",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:42:26.141566Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID: 32638265 is an additional case in a non-consanguineous Han Chinese family. Proband has compound heterozygous variants in this gene and exhibited typical PCD-related clinical symptoms, including chronic otitis media, and recurrent pneumonia since birth. The proband also had chronic ethmoid and maxillary sinusitis, ring-shaped or ductal opacities throughout both lungs, bilateral lung bronchiectasis, and situs inversus totalis in the heart, liver, and colon.",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:42:26.121248Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: DNAAF2 were set to 19052621; 31107948",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:54:23.530365Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Ventricular septal defect 3, OMIM:614432;Tetralogy of Fallot, OMIM:187500",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:54:23.501279Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-5 were changed from Ventricular septal defect 3, OMIM:614432; Tetralogy of Fallot, OMIM:187500 to visceral heterotaxy, MONDO:0018677",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:53:01.681237Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Atrial septal defect 3, OMIM:614089",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:53:01.667798Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MYH6 were changed from Atrial septal defect 3, OMIM:614089 to visceral heterotaxy, MONDO:0018677",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:51:39.341715Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-5 were changed from to Ventricular septal defect 3, OMIM:614432; Tetralogy of Fallot, OMIM:187500",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:50:34.589406Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MYH6 as Red List (low evidence)",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:50:34.586420Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Amber to Red. There is currently no evidence to support that MYH6 is associated with heterotaxy/laterality defects.",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:50:34.561441Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: myh6 has been classified as Red List (Low Evidence).",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:41:01.587970Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MYH6 were changed from to Atrial septal defect 3, OMIM:614089",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:40:41.178276Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: MYH6 were set to ",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:40:34.425617Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:31:24.738144Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF2 were changed from Ciliary dyskinesia, primary, 10, 612518 to Ciliary dyskinesia, primary, 10, OMIM:612518",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:31:15.856758Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: DNAAF2 were set to 19052621",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:27:42.789962Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_expert_review tag was added to gene: CFC1.",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:27:28.829633Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:26:28.250454Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: CFC1.",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:24:23.584429Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CFC1 were changed from Heterotaxy, visceral, 2, 605376 to Heterotaxy, visceral, 2, autosomal, OMIM:605376",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:24:02.709247Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CFC1 were set to 11062482; 25423076",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:22:06.707631Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CCDC65",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-04-13T14:03:18.953634Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, OMIM:615504",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:59:58.484734Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CCDC65 were set to ",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-04-13T13:59:51.740997Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC65 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:20:57.023283Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: NKX2-5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:18:10.870889Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: NKX2-5 were set to ",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:12:50.643601Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: CFAP52.",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:12:46.781306Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CFAP52 as Amber List (moderate evidence)",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:12:46.778342Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.25",
"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 a gene-disease assocation. This gene should be rated Green at the next review.",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:12:46.749051Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cfap52 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2021-04-12T15:09:13.756630Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP52 were changed from Heterotaxy to visceral heterotaxy, MONDO:0018677",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2021-04-12T14:43:31.287849Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CFAP45 as Amber List (moderate evidence)",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2021-04-12T14:43:31.284585Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.23",
"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 any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2021-04-12T14:43:31.254817Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cfap45 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2021-04-12T14:42:56.062049Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Situs inversus, MONDO:0010029; male infertility due to sperm motility disorder, MONDO:0018395",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2021-04-12T14:41:33.128385Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: CFAP45.",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2021-02-24T17:11:44.815963Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: TTC25.",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2021-02-24T17:11:37.147715Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: TTC25",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2021-02-24T17:07:31.314775Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: CCDC151.",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2021-02-24T17:07:20.011262Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: CCDC151",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2021-02-24T17:01:22.007276Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: ARMC4.",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2021-02-24T17:01:14.401586Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: ARMC4",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2021-02-24T15:08:47.705604Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: CCDC114.",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2021-02-24T15:08:36.384870Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: CCDC114",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2021-02-23T17:44:59.943085Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: LRRC6.",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2021-02-23T17:44:51.057850Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: LRRC6",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2021-02-07T03:28:23.624607Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRWD1 was added\ngene: BRWD1 was added to Laterality disorders and isomerism. Sources: Literature\nMode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRWD1 were set to 33389130\nPhenotypes for gene: BRWD1 were set to Primary ciliary dyskinesia, asthenoteratozoospermia\nReview for gene: BRWD1 was set to GREEN\nAdded comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or \"PCD-like\" symptoms of reccurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls). \nSources: Literature",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:57:08.708189Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC56 were changed from Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defect to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637; Mucociliary Clearance and Laterality Defect",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-12-09T08:31:25.397392Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP52 was added\ngene: CFAP52 was added to Laterality disorders and isomerism. Sources: Literature\nMode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP52 were set to 25469542; 33139725\nPhenotypes for gene: CFAP52 were set to Heterotaxy\nReview for gene: CFAP52 was set to GREEN\nAdded comment: Five unrelated families and functional data. \nSources: Literature",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2020-12-09T08:29:22.427682Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP45 was added\ngene: CFAP45 was added to Laterality disorders and isomerism. Sources: Literature\nMode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP45 were set to 33139725\nPhenotypes for gene: CFAP45 were set to Situs inversus; asthenospermia\nReview for gene: CFAP45 was set to GREEN\nAdded comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype. \nSources: Literature",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:36:35.834268Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.20",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off\nPanel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-10T12:07:35.874545Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients.\r\nElectron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity \nSources: Expert list; to: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients.\r\nElectron microscopy demonstrated cilia were unable to generate fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity \r\nSources: Expert list",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-09-08T10:14:58.715437Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: DNAH6.",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-09-08T10:14:53.996679Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: DNAH6 as Amber List (moderate evidence)",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-09-08T10:14:53.990562Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Based on the evidence there is not enough evidence to support a gene-disease association. This gene has been given an Amber gene rating until further evidence is available.",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-09-08T10:14:53.940666Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: dnah6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-09-08T10:06:07.958451Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: FOXJ1 as Amber List (moderate evidence)",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-09-08T10:06:07.951615Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There are enough cases to support a gene-disease association. There are also several animal models (PMID: 9739041, 15504371) that show that this gene has a role in L-R body assymmetry determination during early embryogenesis. This gene will be upgraded to Green status at the next major update.",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-09-08T10:06:07.887222Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: foxj1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-09-08T10:06:01.980516Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: FOXJ1.",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-09-08T10:03:49.187934Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: FOXJ1 were set to 31630787",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-09-08T09:47:17.077210Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-09-08T09:44:04.251671Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PKD1L1.",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-09-08T09:43:26.008212Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PKD1L1 were set to 31026592; 27616478",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-09-08T09:41:55.383174Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKD1L1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-09-08T08:44:09.752534Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PKD1L1 were set to 31026592",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-09-08T08:43:48.887514Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PKD1L1 were set to ",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-09-08T08:43:42.463563Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PKD1L1 were changed from to Heterotaxy, visceral, 8, autosomal, 617205",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-08-26T12:42:07.067478Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MNS1 as Amber List (moderate evidence)",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-08-26T12:42:07.063172Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been added as an Amber gene and will be promoted to a Green gene at the next major update. It has been tagged with \"for-review\".",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-08-26T12:42:07.025361Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: mns1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-08-26T12:41:35.660821Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-08-26T12:36:07.041958Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: MNS1.",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-08-26T12:35:09.890947Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: MNS1 were set to 31534215; 30148830",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-08-25T13:32:36.533660Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy, visceral, 9, autosomal, with male infertility, 618948",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-07-30T10:08:14.699852Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31026592; Phenotypes: Heterotaxy, visceral, 8, autosomal (MIM#617205); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-23T17:11:00.162391Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: CCDC32.",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-07-23T17:08:00.751281Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: CCDC32 as Amber List (moderate evidence)",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-07-23T17:08:00.721471Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating amber as 2 cases plus some functional evidence. Rating agreed with Genomics England clinical team.",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-07-23T17:08:00.645115Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: ccdc32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-07-23T17:07:20.188595Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: CCDC32 as Amber List (moderate evidence)",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-07-23T17:07:20.175256Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: ccdc32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-07-23T17:07:10.141876Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: CCDC32 was added\ngene: CCDC32 was added to Laterality disorders and isomerism. Sources: Literature\nMode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC32 were set to 32307552\nReview for gene: CCDC32 was set to AMBER\nAdded comment: PMID: 32307552 - Harel et al 2020 - report 2 unrelated consanguineous families with probands with homozygous frameshift variants in CCDC32. Parents are heterozygous. Phenotype is a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. \r\n\r\nThe child in family 1 presented with cleft lip and palate, atrioventricular (AV) canal defect and abdominal situs inversus with asplenia, borderline microcephaly, hypotelorism, upslanting palpebral fissures, a stiff upper lip, missing teeth attributed to the clefting, vaulted palate with cleft, prominent ears, underdeveloped helices and micrognathia. The child in family 2 presented bilateral cleft lip, cleft palate, ventricular septal defect and pulmonary valve stenosis, Microcephaly (Z score−2.5), brachydactyly, hypertelorism, epicanthal folds, broad nasal root, a prominent large nose and malformed protruded ears.\r\n\r\nFunctional studies in zebrafish show that ccdc32 depletion impairs cilia formation and demonstrate a contribution of ccdc32 in craniofacial, brain and left/right axis development. \nSources: Literature",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-06-02T08:38:57.130229Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXJ1 was added\ngene: FOXJ1 was added to Laterality disorders and isomerism. Sources: Expert list\nMode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXJ1 were set to 31630787\nPhenotypes for gene: FOXJ1 were set to Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry\nReview for gene: FOXJ1 was set to GREEN\ngene: FOXJ1 was marked as current diagnostic\nAdded comment: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients.\r\nElectron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity \nSources: Expert list",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-06-02T08:37:19.095115Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group B, MIM# 300514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-06-02T08:09:21.076110Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Visceral myopathy, MIM# 155310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-06-02T08:08:03.808405Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 5, MIM# 612794; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-06-01T09:57:33.161726Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NKX2-5: Rating: RED; Mode of pathogenicity: None; Publications: 25742962, 26805889; Phenotypes: Ventricular septal defect 3 (MIM#614432), Tetralogy of Fallot (MIM#187500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2020-06-01T09:55:10.364762Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23991085, 24094744; Phenotypes: Ciliary dyskinesia, primary, 27, MIM# 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2020-06-01T09:01:53.142387Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31633655, 18162845, 25423076, 11062482; Phenotypes: Heterotaxy, visceral, 2, autosomal 605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-06-01T08:33:54.615479Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19052621, 31107948; Phenotypes: Ciliary dyskinesia, primary, 10 612518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-06-01T08:28:35.970316Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH6 was added\ngene: DNAH6 was added to Laterality disorders and isomerism. Sources: Expert list\nMode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH6 were set to 26918822\nPhenotypes for gene: DNAH6 were set to Heterotaxy; male infertility\nReview for gene: DNAH6 was set to AMBER\nAdded comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width. Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1. Summary: 1 convincing patient with animal model \nSources: Expert list",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-06-01T08:20:44.193824Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: None; Publications: 20656787, 29969989, 15735645; Phenotypes: Atrial septal defect 3 (MIM#614089); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-05-11T10:37:31.825567Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: None; Publications: 9354794, 19064609; Phenotypes: Heterotaxy, visceral, 5 (MIM#270100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2020-05-02T02:37:40.789915Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MNS1 was added\ngene: MNS1 was added to Laterality disorders and isomerism. Sources: Literature\nMode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MNS1 were set to 31534215; 30148830\nPhenotypes for gene: MNS1 were set to Heterotaxy; male infertility\nReview for gene: MNS1 was set to GREEN\ngene: MNS1 was marked as current diagnostic\nAdded comment: Eight families reported altogether. However, four are Amish and share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder variant. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated. \nSources: Literature",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:47:29.079398Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.4",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-02T16:47:10.635301Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-09T16:40:25.682220Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "1.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-09T16:38:41.056480Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.136",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-27T13:11:26.497449Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TTC25 as Amber List (moderate evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:11:26.492778Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:11:26.468521Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.135",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:11:15.086995Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: DNAL1 as Amber List (moderate evidence)",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:11:15.084098Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:11:15.069139Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.134",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: dnal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:10:49.419706Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: DNAAF2 as Amber List (moderate evidence)",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:10:49.417263Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:10:49.403224Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.133",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: dnaaf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:10:24.717695Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CFC1 as Amber List (moderate evidence)",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:10:24.712719Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2019-11-27T13:10:24.688335Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.132",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: cfc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2019-11-27T12:34:26.768895Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.131",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Downgraded from Green to Red after expert review. Included update to Test Group to comment on this change before sign off.; to: Comment on list classification: Downgraded from Green to Red after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2019-11-27T12:30:14.382347Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.131",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ACVR2B as Red List (low evidence)",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2019-11-27T12:30:14.377314Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.131",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Red after expert review. Included update to Test Group to comment on this change before sign off.",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2019-11-27T12:30:14.351255Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.131",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: acvr2b has been classified as Red List (Low Evidence).",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:48:27.514717Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.130",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: NME8 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:48:21.375691Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.129",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: NME8 were set to ",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:47:33.632142Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.128",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:39:35.406054Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.127",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ZMYND10 were changed from Congenital heart defects, nonsyndromic, 1, X-linked; Heterotaxy, visceral, 1, X-linked; VACTERL association, X-linked to Ciliary dyskinesia, primary, 22, 615444",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:38:34.856417Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.126",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZMYND10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:37:27.842692Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.125",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ZMYND10 were changed from to Congenital heart defects, nonsyndromic, 1, X-linked; Heterotaxy, visceral, 1, X-linked; VACTERL association, X-linked",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:37:02.460958Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.124",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZMYND10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:23:35.845920Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.123",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ZIC3 were changed from to Heterotaxy, visceral, 1, X-linked, 306955; Congenital heart defects, nonsyndromic, 1, X-linked",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:23:13.144761Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.122",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZIC3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:22:59.652582Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.121",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TTC25 were changed from to Ciliary dyskinesia, primary, 35, 617092",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:22:46.213216Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.120",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: TTC25 were set to ",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:22:39.937322Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.119",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTC25 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:22:26.256810Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.118",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SPAG1 were changed from to Ciliary dyskinesia, primary, 28, 615505",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:22:13.039697Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.117",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SPAG1 were set to ",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:22:07.333195Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.116",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPAG1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:21:58.407726Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.115",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: PIH1D3 were changed from to Ciliary dyskinesia, primary, 36, X-linked, 300991",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:21:42.810303Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.114",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PIH1D3 were set to ",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:21:36.235783Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.113",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIH1D3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:21:11.601111Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.112",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: NODAL were changed from Heterotaxy, visceral, 5270100 to Heterotaxy, visceral, 5, 270100",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:20:48.892039Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.111",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: NODAL were changed from to Heterotaxy, visceral, 5270100",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:20:40.506734Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.110",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: NODAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:20:26.923330Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.109",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: MMP21 were changed from to Heterotaxy, visceral, 7, autosomal, 616749",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:19:50.079456Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.108",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: MMP21 were set to 26437028",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:19:40.261320Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.107",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMP21 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:19:26.871524Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.106",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC6 were changed from to Ciliary dyskinesia, primary, 19, 614935",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:19:11.737418Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.105",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: LRRC6 were set to ",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:19:05.392113Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.104",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRRC6 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:18:52.165503Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.103",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC56 were changed from Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defe to Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defect",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:17:53.165681Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.102",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GDF1 were changed from to Right atrial isomerism, 208530",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:17:40.931372Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.101",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GDF1 were set to ",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:16:16.847090Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.100",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAL1 were set to ",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:16:10.013889Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.99",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DNAL1 were changed from to Ciliary dyskinesia, primary, 16, 614017",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:15:58.094416Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.98",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:15:07.069744Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.97",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DNAI2 were changed from to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:14:55.907630Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.96",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAI2 were set to ",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:14:48.920614Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.95",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAI2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:14:32.782487Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.94",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DNAI1 were changed from to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:14:16.395492Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.93",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAI1 were set to ",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:14:10.095827Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.92",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAI1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:13:53.039377Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.91",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH9 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, 40, 618300",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:13:36.487195Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.90",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAH9 were set to 30471717",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:13:09.158021Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.89",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:12:57.023142Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.88",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAH5 were set to ",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:12:47.540663Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.87",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:12:29.812973Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.86",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH11 were changed from to Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:12:12.858999Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.85",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAH11 were set to ",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:12:05.586765Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.84",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH11 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:11:53.224454Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.83",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF5 were changed from to Ciliary dyskinesia, primary, 18, 614874",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:11:32.540296Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.82",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAAF5 were set to ",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:11:26.336756Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.81",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:11:17.120979Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.80",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF4 were changed from to Ciliary dyskinesia, primary, 25, 615482",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:10:58.833957Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.79",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAAF4 were set to ",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:10:52.098707Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:10:00.750939Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF3 were changed from to Ciliary dyskinesia, primary, 2, 606763",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:09:43.267921Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:09:39.770429Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAAF3 were set to ",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:06:45.199289Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF2 were changed from to Ciliary dyskinesia, primary, 10, 612518",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:06:28.483918Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.73",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:06:25.610154Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAAF2 were set to ",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:05:57.772919Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF1 were changed from to Ciliary dyskinesia, primary, 13, 613193",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:05:43.675379Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAAF1 were set to ",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:05:37.892745Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:04:58.620653Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:04:48.664823Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CFC1 were changed from to Heterotaxy, visceral, 2, 605376",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:04:10.004716Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CFC1 were set to 11062482",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:03:25.104269Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP53 were changed from to Heterotaxy, visceral, 6, autosomal recessive, 614779",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:03:07.566631Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CFAP53 were set to 26531781; 22577226; 25504577",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:02:54.223142Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFAP53 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:02:30.863737Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CCDC40 were set to ",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:02:21.763544Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC40 were changed from to Ciliary dyskinesia, primary, 15, 613808",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:02:07.109905Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC40 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:01:52.353163Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC39 were changed from to Ciliary dyskinesia, primary, 14, 613807",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:01:06.965808Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CCDC39 were set to ",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2019-11-27T11:01:00.101803Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC39 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2019-11-27T10:59:29.809696Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CCDC151 were set to ",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2019-11-27T10:59:05.491071Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CCDC114 were set to ",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2019-11-27T10:58:50.171127Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CCDC103 were set to ",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2019-11-27T10:58:08.383032Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.53",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: C11orf70 were set to ",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2019-11-27T10:57:37.909032Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ARMC4 were set to ",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:49:49.673965Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261302, 23261303; Phenotypes: OMIM 615067 Ciliary dyskinesia, primary, 20; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:47:29.340838Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581229, 28790179; Phenotypes: OMIM 614679\tCiliary dyskinesia, primary, 17; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:44:08.396380Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: None; Publications: 29727692, 29727693; Phenotypes: OMIM 618063 Ciliary dyskinesia, primary, 38; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:40:10.202776Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849778, 24203976; Phenotypes: OMIM 615451 Ciliary dyskinesia, primary, 23; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:36:31.755306Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: 9916847; Phenotypes: OMIM 613751\tHeterotaxy, visceral, 4, autosomal; Mode of inheritance: None",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:28:14.839469Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM 306955 Heterotaxy, visceral, 1, X-linked, Congenital heart defects, nonsyndromic, 1, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:25:12.693978Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486780; Phenotypes: OMIM 617092 Ciliary dyskinesia, primary, 35; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:22:07.265974Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24055112; Phenotypes: OMIM 615505 Ciliary dyskinesia, primary, 28; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:19:35.456535Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24421334, 28041644,; Phenotypes: OMIM 300991 Ciliary dyskinesia, primary, 36, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:15:09.434365Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: NODAL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19064609; Phenotypes: OMIM Heterotaxy, visceral, 5270100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:10:55.859317Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437028, 26429889; Phenotypes: OMIM Heterotaxy, visceral, 7, autosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:07:42.995569Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192045, 25224326; Phenotypes: OMIM 616037 Ciliary dyskinesia, primary, 30; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:05:04.960910Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23891469, 23122589; Phenotypes: OMIM 614935 Ciliary dyskinesia, primary, 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2019-11-25T23:01:36.510620Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: None; Publications: 30388400; Phenotypes: OMIM 618254 Ciliary dyskinesia, primary, 39; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2019-11-25T22:55:30.858797Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20413652, 28991257; Phenotypes: OMIM 208530 Right atrial isomerism; Mode of inheritance: None",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2019-11-25T22:44:52.615035Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DNAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21496787; Phenotypes: OMIM 614017 Ciliary dyskinesia, primary, 16; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2019-11-25T22:40:16.280704Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261302, 18950741; Phenotypes: OMIM 612444 Ciliary dyskinesia, primary, 9, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2019-11-25T22:36:09.168947Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10577904, 11231901; Phenotypes: OMIM 244400 Ciliary dyskinesia, primary, 1, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2019-11-25T22:30:38.800789Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30471717, 30471718; Phenotypes: OMIM 618300 Ciliary dyskinesia, primary, 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2019-11-25T22:26:57.297596Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261302, 11788826, 11062149; Phenotypes: OMIM 608644 Ciliary dyskinesia, primary, 3, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2019-11-25T22:23:36.448820Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 12142464, 22184204, 22102620; Phenotypes: OMIM 611884 Ciliary dyskinesia, primary, 7, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2019-11-25T22:18:37.721468Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23040496, 20350728, 29363216; Phenotypes: OMIM 614874 Ciliary dyskinesia, primary, 18; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2019-11-25T22:14:27.362544Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DNAAF4: Rating: ; Mode of pathogenicity: None; Publications: 23872636; Phenotypes: OMIM 615482 Ciliary dyskinesia, primary, 25; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2019-11-25T22:05:27.190728Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22387996; Phenotypes: OMIM 606763 Ciliary dyskinesia, primary, 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2019-11-25T22:01:13.354243Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DNAAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19052621; Phenotypes: OMIM 612518 Ciliary dyskinesia, primary, 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2019-11-25T21:52:54.462978Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19944405, 19944400, 18385425; Phenotypes: OMIM 613193 Ciliary dyskinesia, primary, 13; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2019-11-25T21:47:10.583791Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11062482, 25423076; Phenotypes: OMIM 605376 Heterotaxy, visceral, 2, autosomal; Mode of inheritance: None",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2019-11-25T21:42:02.977251Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CFAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 25504577, 22577226, 28621423, 26531781; Phenotypes: OMIM 614779 Heterotaxy, visceral, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2019-11-25T21:30:15.181554Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255504, 21131974; Phenotypes: OMIM 613808 Ciliary dyskinesia, primary, 15; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2019-11-19T16:23:11.718492Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131972, 23255504; Phenotypes: OMIM 613807 Ciliary dyskinesia, primary, 14; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:31:06.557571Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RSPH4A as Red List (low evidence)",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:31:06.552080Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:31:06.528295Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rsph4a has been classified as Red List (Low Evidence).",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:54.148876Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RSPH9 as Red List (low evidence)",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:54.141199Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:54.115681Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rsph9 has been classified as Red List (Low Evidence).",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:38.393207Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.49",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RSPH3 as Red List (low evidence)",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:38.390071Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.49",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:38.373234Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.49",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rsph3 has been classified as Red List (Low Evidence).",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:24.083389Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RSPH1 as Red List (low evidence)",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:24.078683Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:24.053722Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rsph1 has been classified as Red List (Low Evidence).",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:13.747131Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: GAS8 as Red List (low evidence)",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:13.741724Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:30:13.717477Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: gas8 has been classified as Red List (Low Evidence).",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:29:59.817613Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: DRC1 as Red List (low evidence)",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:29:59.812647Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:29:59.786581Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: drc1 has been classified as Red List (Low Evidence).",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:29:38.185667Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CCNO as Red List (low evidence)",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:29:38.180946Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:29:38.157519Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ccno has been classified as Red List (Low Evidence).",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:28:59.087209Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: HYDIN as Red List (low evidence)",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:28:59.082202Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:28:59.057173Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: hydin has been classified as Red List (Low Evidence).",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:28:26.018594Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.43",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: DNAJB13 as Red List (low evidence)",
"entity_name": "DNAJB13",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:28:26.013266Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.43",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.",
"entity_name": "DNAJB13",
"entity_type": "gene"
},
{
"created": "2019-09-27T19:28:25.987333Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.43",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: dnajb13 has been classified as Red List (Low Evidence).",
"entity_name": "DNAJB13",
"entity_type": "gene"
},
{
"created": "2019-08-22T10:44:05.708849Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from to R139",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-21T14:02:14.420411Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2019-08-21T14:02:04.241245Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2019-08-21T14:01:44.380049Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2019-08-21T14:01:32.375293Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2019-08-21T14:01:16.534333Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2019-08-21T14:01:00.034534Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2019-08-21T14:00:49.723007Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2019-08-21T14:00:37.620999Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2019-08-21T14:00:24.951551Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2019-08-21T14:00:03.754846Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: FFrom GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: FFrom GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:59:50.544484Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "DNAJB13",
"entity_type": "gene"
},
{
"created": "2019-07-02T09:37:24.917864Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: DNAH1: Changed rating: AMBER",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2019-07-02T08:54:12.767321Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: DNAH1 as Amber List (moderate evidence)",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2019-07-02T08:54:12.764052Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene was reviewed by the respiratory working group as part of the GMS. The evidence was considered sufficient only for an amber rating for PCD on the 'Respiratory ciliopathies including non-CF bronchiectasis' panel, as most homozygote knockouts have spermatogenic failure, no other PCD symptoms. PCD association is based on single pair of sisters with unvalidated missense, therefore as the phenotype is the same for both GMS panels, it was decided by the Genomics England clinical team to downgrade from Green to Amber, given it is the same phenotype associated with this gene, as the same GMS test group are overseeing both panels.",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2019-07-02T08:54:12.730509Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: dnah1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:31:12.413444Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ACVR2B were changed from Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 Visceral Heterotaxy, Heterotaxy, Visceral, 4, Autosomal to Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:28:47.282122Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.38",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC151 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:28:39.249098Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC151 were changed from to Ciliary dyskinesia, primary, 30, 616037",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:27:58.168199Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC114 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:27:48.800949Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.35",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC114 were changed from to Ciliary dyskinesia, primary, 20, 615067",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:27:08.367336Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC103 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:26:59.774443Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC103 were changed from to Ciliary dyskinesia, primary, 17, 614679",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:25:18.896350Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: C21orf59 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:25:01.965739Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, 615500",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:24:29.455524Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:24:17.290939Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: C11orf70 were changed from to Ciliary dyskinesia, primary, 38, 618063",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:22:57.054243Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ARMC4 were changed from Ciliary dyskinesia, primary, 23, 615451 to Ciliary dyskinesia, primary, 23, 615451",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:22:56.126312Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ARMC4 were changed from to Ciliary dyskinesia, primary, 23, 615451",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:22:38.148236Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARMC4 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:19:48.126635Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ACVR2B were changed from to Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 Visceral Heterotaxy, Heterotaxy, Visceral, 4, Autosomal",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:18:50.705507Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ACVR2B were set to ",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:18:44.300360Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACVR2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2019-05-16T11:08:39.886868Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CCDC65 as Amber List (moderate evidence)",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2019-05-16T11:08:39.883884Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Amber after review from GMS Respiratory Specialist Test Group webex call 18th Jan 2019 who noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2019-05-16T11:08:39.869234Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ccdc65 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2019-05-09T15:15:32.723204Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: C21orf59: Added new-gene-name tag, new approved HGNC gene symbol for C21orf59 is CFAP298",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2019-05-09T15:15:23.287285Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C21orf59.",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2019-02-04T14:47:08.465152Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C11orf70.",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2019-02-04T14:46:53.122545Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: C11orf70: New HGNC approved gene symbol for C11orf70 is CFAP300",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2019-01-21T17:08:57.646677Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on publications: Comment on publications: Added publication to support gene-disease association and rating of this gene to Green. 4 cases from 3 families & functional data.",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2019-01-21T17:08:57.627819Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DNAH9 were set to ",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:51:00.815726Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TTC25: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : there are unpublished cases and functional evidence to support this gene to be rated as Green.",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:49:23.092033Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: PKD1L1: Changed rating: AMBER",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:48:17.096665Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PKD1L1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Ian Berry to add supporting publications/MOI/Phenotype and confirm Amber or Green rating.",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:44:13.125861Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: RSPH4A: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:43:51.636110Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: RSPH9: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:43:39.912583Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: RSPH3: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:43:27.175888Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: RSPH1: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:43:05.260849Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: GAS8: Changed rating: RED",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:40:03.064359Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GAS8: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:39:25.192840Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: DRC1: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:39:03.339456Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CCNO: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:30:14.512468Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CCDC65: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: AMBER",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:25:28.827143Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: HYDIN: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO ,DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel.Hannah Mitchison to follow up with reference/confirm gens that should be downgraded to Red from Green.; Changed rating: RED",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2019-01-21T16:24:38.201671Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: DNAJB13: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13,HYDIN,CCDC65,CCNO,DRC1,GAF8,RSPH1,RSPH3,RSPH9,RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel.Hannah Mitchison to follow up with reference/confirm gens that should be downgraded to Red from Green; Changed rating: RED",
"entity_name": "DNAJB13",
"entity_type": "gene"
},
{
"created": "2019-01-21T15:50:53.662927Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: C11orf70: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 Hannah Mitchison will add publications to support Green rating. Also need to add MOI and Phenotype to indicate relevance to inclusion.",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2019-01-21T14:12:45.936075Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: added phenotypes",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2019-01-21T14:12:45.924152Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC56 were changed from to Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defe",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2019-01-21T14:09:41.876879Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRRC56 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2019-01-21T14:08:45.159631Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CRELD1 were changed from to Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2019-01-21T14:07:10.271520Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CRELD1: Changed rating: AMBER",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2019-01-21T14:05:03.714546Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CRELD1 as Amber List (moderate evidence)",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2019-01-21T14:05:03.711670Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changed to Amber until further evidence supplied from Ian Berry ( GMS Respiratory Specialist Test Group webex call 18th Jan 2019)",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2019-01-21T14:05:03.693549Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2019-01-21T14:03:59.117032Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRELD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2019-01-21T14:03:45.867768Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CRELD1 were set to ",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2019-01-21T14:03:30.052721Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CRELD1: Review from Helen Brittain (Genomics England Curator) on the Familial non syndromic congenital heart disease panel 4 Jul 2017. Panel version: 1.8. Rating Amber. Comment on list classification: watchlist. 3/50 with AVSD found to have mutations, two isolated partial AVSD and one with heterotaxy. However it has also been postulated as a susceptibility locus. Further evidence of the role in AVSD is needed therefore considered amber. Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes :\r\nAtrioventricular septal defect, partial, with heterotaxy syndrome, 2; Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217; Visceral Heterotaxy Atrioventricular Septal Defect, Susceptibility To, 2. Publictions: 12632326",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:02:52.837101Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.14",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Marked gene: DNAH9 as ready",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:02:52.826523Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.14",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: dnah9 has been classified as Green List (High Evidence).",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:02:48.290740Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.14",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: DNAH9 as Green List (high evidence)",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:02:48.282371Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.14",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: dnah9 has been classified as Green List (High Evidence).",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:00:22.633787Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.13",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "gene: DNAH9 was added\ngene: DNAH9 was added to Laterality disorders and isomerism. Sources: Expert Review\nMode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH9 were set to Primary ciliary dyskinesia\nReview for gene: DNAH9 was set to GREEN\nAdded comment: Recent publication Fassad et al Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus\r\nhttps://www.sciencedirect.com/science/article/pii/S0002929718303689\r\nreports two unrelated probands and a sibling pair with biallelic variants in DNAH9, as well as functional evidence that DNAH9 mutaitons affect ciliary function. All affected individuals had situs inversus. \nSources: Expert Review",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2019-01-18T21:56:36.678652Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.12",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: PKD1L1 as Amber List (moderate evidence)",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2019-01-18T21:56:36.676104Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.12",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rated as amber following discussion with NHS GMS respiratory specialist test group 18/01/19.",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2019-01-18T21:56:36.651327Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.12",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2019-01-18T21:48:28.935044Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.11",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: NME8 as Red List (low evidence)",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2019-01-18T21:48:28.929130Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.11",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: nme8 has been classified as Red List (Low Evidence).",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2019-01-18T21:48:13.034624Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.10",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: PMID:17360648; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2019-01-18T21:44:35.567215Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.10",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30388400; Phenotypes: Mucociliary Clearance and Laterality Defect; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2019-01-17T13:57:56.594364Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: MMP21 were set to ",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2019-01-17T13:57:16.664764Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MMP21: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator).Green List (high evidence). Comment when marking as ready: Sufficient evidence for causation of heterotaxy phenotype. Sufficient cases (9 in listed PMID) of heterotaxy / cardiac laterality defects. Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Phenotypes: Heterotaxy,visceral,7,autosomal, 616749. Publications 26437028.",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2019-01-17T13:55:54.087873Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CFC1 were set to ",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2019-01-17T13:55:40.054010Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CFC1: Added comment: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). Comment on list classification: Sufficient evidence in relation to heterotaxy phenotype. Therefore promoted to green. Three (/?four) unrelated laterality cases with two LOF mutations in listed PMID. Considered sufficient cases for inclusion. Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes: Heterotaxy, visceral, 2, autosomal, 605376; Visceral Heterotaxy, Heterotaxy, Visceral, 2, Autosomal. Publications: 11062482.; Changed publications: 11062482",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2019-01-17T13:53:09.241779Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CFAP53 were set to ",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2019-01-17T13:52:07.064415Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CFAP53: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). Comment on list classification: Sufficient cases for inclusion regarding laterality phenotype. 4 separate families identified in the three PMIDs with laterality defects (one was an inferred exon 3 deletion) plus evidence of role in motile ciliary organ in zebrafish as supporting evidence. Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Phenotypes: Visceral Heterotaxy; Heterotaxy, Visceral, 6, Autosomal. Publications: 26531781, 22577226, 25504577",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2019-01-16T13:37:28.947195Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ZIC3 were set to ",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-01-16T13:37:17.087359Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ZIC3: Review on panel: Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Helen Brittain (Genomics England Curator). Green List (high evidence). Review: >5 families with situs abnormalities in listed PMID. Evidence for causation of heterotaxy. Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females. Phenotypes: x-linked Heterotaxy syndrome, Visceral, 1; Heterotaxy, visceral, 1, X-linked 306955; Visceral Heterotaxy; Heterotaxy, Visceral, 1, X-Linked. Publications: 9354794",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-01-16T13:31:53.446649Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: NODAL were set to ",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2019-01-16T13:31:39.769794Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: NODAL: Added comment: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). In 14/269 cases with heterotaxy and or cardiovascular malformations, mutations identified in listed PMID. Mutations included missense, splice site and an in-frame indel.\r\nMode of inheritance MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes: Heterotaxy syndrome; Heterotaxy, visceral, 5, 270100; Visceral Heterotaxy; Heterotaxy, Visceral, 5, Autosomal. Publications: 19064609; Changed publications: 19064609",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2019-01-16T13:20:02.768745Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.5",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: LRRC56 were set to ",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2019-01-16T13:10:06.070427Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ACVR2B: Changed publications: 9916847",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2019-01-16T13:08:40.995537Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACVR2B: From review 4 Jul 2017, 7:24 a.m. Panel Name Familial non syndromic congenital heart disease. Panel version: 1.8 Helen Brittain (Genomics England Curator)\r\nGreen List (high evidence)\r\nThree unrelated cases of left-right axis malformations, including cardiac anomalies e.g. left atrialisomerism in PMID:9916847.\r\n4 Jul 2017, 7:24 a.m.\r\nMode of inheritance\r\nMONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\r\nPhenotypes\r\nHeterotaxy syndrome; Heterotaxy, visceral, 4, autosomal, 613751; Visceral Heterotaxy; Heterotaxy, Visceral, 4, Autosomal\r\nPublications: 9916847",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.949841Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ZMYND10.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.877680Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ZIC3.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.821638Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TTC25.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.761214Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SPAG1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.697672Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RSPH9.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.642326Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RSPH4A.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.582375Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RSPH3.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.529484Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RSPH1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.471364Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PKD1L1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.412615Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PIH1D3.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.351163Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to NSD2.",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.295163Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to NPHP4.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.234822Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to NODAL.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.177700Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to NME8.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.111551Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to NKX2-5.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:37.044819Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to MYH6.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.991268Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MMP21.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.939199Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to LZTFL1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.885121Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to LRRC6.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.824542Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to LRRC56.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.761254Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Red was added to LETM1.",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.703377Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to HYDIN.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.646863Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GDF1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.590030Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GAS8.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.533790Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to FANCB.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.475121Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DRC1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.409693Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAL1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.347432Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAJB13.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAJB13",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.285272Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAI2.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.227846Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAI1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.171226Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to DNAH8.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.090393Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAH5.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:36.019225Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAH11.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.952409Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAH1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.883512Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAAF5.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.809341Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAAF4.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.744285Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAAF3.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.670537Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAAF2.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.595225Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DNAAF1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.519020Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CRELD1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.451675Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CFC1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.387244Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CFAP53.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.325590Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to C11orf70.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.266139Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CCNO.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.198827Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CCDC65.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.131486Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CCDC40.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.070308Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CCDC39.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:35.011464Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CCDC151.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:34.952173Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CCDC114.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:34.880618Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CCDC103.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:34.820083Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to C21orf59.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:34.759732Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ARMC4.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:34.693105Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ACVR2B.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:34.626272Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ACTG2.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2018-12-05T13:29:33.954301Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ACTC1.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:41.091920Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:41.074010Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:41.059066Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:41.040362Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:41.025926Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:41.007755Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.991501Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.976517Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.961279Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.947945Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.935426Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NSD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.920583Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.905690Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NODAL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.890292Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NME8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.874342Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.859365Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.843334Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.826289Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.808767Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.793539Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.776656Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LETM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.759890Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.743542Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.728554Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.715505Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"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": "2018-12-05T12:52:40.699683Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.685441Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.671599Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAJB13",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.657045Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.644439Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.629210Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.613680Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.600902Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.587395Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.573696Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.557362Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.541617Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.526049Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.512459Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.500239Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.487145Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.473762Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CFAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.456438Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.442906Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.426943Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.410603Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.397384Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.385053Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.368721Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.355878Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.342591Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.314559Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.301774Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ACVR2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.285085Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ACTG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:52:40.269930Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:07.080482Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ZMYND10 was added\ngene: ZMYND10 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: ZMYND10 was set to ",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:07.024368Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ZIC3 was added\ngene: ZIC3 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: ZIC3 was set to ",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.983066Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TTC25 was added\ngene: TTC25 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: TTC25 was set to ",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.946387Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SPAG1 was added\ngene: SPAG1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: SPAG1 was set to ",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.898238Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RSPH9 was added\ngene: RSPH9 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: RSPH9 was set to ",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.860868Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RSPH4A was added\ngene: RSPH4A was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: RSPH4A was set to ",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.822467Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RSPH3 was added\ngene: RSPH3 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: RSPH3 was set to ",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.783293Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RSPH1 was added\ngene: RSPH1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: RSPH1 was set to ",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.747091Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PKD1L1 was added\ngene: PKD1L1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: PKD1L1 was set to ",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.709802Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PIH1D3 was added\ngene: PIH1D3 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: PIH1D3 was set to ",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.670284Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NSD2 was added\ngene: NSD2 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: NSD2 was set to ",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.632355Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NPHP4 was added\ngene: NPHP4 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: NPHP4 was set to ",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.594851Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NODAL was added\ngene: NODAL was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: NODAL was set to ",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.555521Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NME8 was added\ngene: NME8 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: NME8 was set to ",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.517964Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NKX2-5 was added\ngene: NKX2-5 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: NKX2-5 was set to ",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.468861Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MYH6 was added\ngene: MYH6 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: MYH6 was set to ",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.433606Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MMP21 was added\ngene: MMP21 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: MMP21 was set to ",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.395052Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LZTFL1 was added\ngene: LZTFL1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: LZTFL1 was set to ",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.343469Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LRRC6 was added\ngene: LRRC6 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: LRRC6 was set to ",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.294299Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LRRC56 was added\ngene: LRRC56 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: LRRC56 was set to ",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.254183Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LETM1 was added\ngene: LETM1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: LETM1 was set to ",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.216522Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HYDIN was added\ngene: HYDIN was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: HYDIN was set to ",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.173234Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GDF1 was added\ngene: GDF1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: GDF1 was set to ",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.137246Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GAS8 was added\ngene: GAS8 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: GAS8 was set to ",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.098983Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FANCB was added\ngene: FANCB was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: FANCB was set to ",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.061407Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DRC1 was added\ngene: DRC1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DRC1 was set to ",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:06.022934Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAL1 was added\ngene: DNAL1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAL1 was set to ",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.986347Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAJB13 was added\ngene: DNAJB13 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAJB13 was set to ",
"entity_name": "DNAJB13",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.951610Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAI2 was added\ngene: DNAI2 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAI2 was set to ",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.915931Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAI1 was added\ngene: DNAI1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAI1 was set to ",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.879108Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAH8 was added\ngene: DNAH8 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAH8 was set to ",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.828517Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAH5 was added\ngene: DNAH5 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAH5 was set to ",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.775135Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAH11 was added\ngene: DNAH11 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAH11 was set to ",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.736050Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAH1 was added\ngene: DNAH1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAH1 was set to ",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.691113Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAAF5 was added\ngene: DNAAF5 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAAF5 was set to ",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.647321Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAAF4 was added\ngene: DNAAF4 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAAF4 was set to ",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.604366Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAAF3 was added\ngene: DNAAF3 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAAF3 was set to ",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.568333Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAAF2 was added\ngene: DNAAF2 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAAF2 was set to ",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.535979Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DNAAF1 was added\ngene: DNAAF1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: DNAAF1 was set to ",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.496978Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CRELD1 was added\ngene: CRELD1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: CRELD1 was set to ",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.461344Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CFC1 was added\ngene: CFC1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: CFC1 was set to ",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.426580Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CFAP53 was added\ngene: CFAP53 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: CFAP53 was set to ",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.388589Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CCNO was added\ngene: CCNO was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: CCNO was set to ",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.349415Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CCDC65 was added\ngene: CCDC65 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: CCDC65 was set to ",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.310198Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CCDC40 was added\ngene: CCDC40 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: CCDC40 was set to ",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.267348Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CCDC39 was added\ngene: CCDC39 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: CCDC39 was set to ",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.227689Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CCDC151 was added\ngene: CCDC151 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: CCDC151 was set to ",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.187021Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CCDC114 was added\ngene: CCDC114 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: CCDC114 was set to ",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.147501Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CCDC103 was added\ngene: CCDC103 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: CCDC103 was set to ",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.105525Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: C21orf59 was added\ngene: C21orf59 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: C21orf59 was set to ",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.061079Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: C11orf70 was added\ngene: C11orf70 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: C11orf70 was set to ",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:05.022358Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ARMC4 was added\ngene: ARMC4 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: ARMC4 was set to ",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:04.978549Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ACVR2B was added\ngene: ACVR2B was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: ACVR2B was set to ",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:04.939222Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ACTG2 was added\ngene: ACTG2 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: ACTG2 was set to ",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2018-12-05T12:41:04.888703Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ACTC1 was added\ngene: ACTC1 was added to Laterality disorders and isomerism. Sources: NHS GMS\nMode of inheritance for gene: ACTC1 was set to ",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2018-11-16T13:52:07.217710Z",
"panel_name": "Laterality disorders and isomerism",
"panel_id": 549,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Laterality disorders and isomerism\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]