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[
{
"created": "2024-05-01T12:43:42.582274Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "4.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 4.0 has been signed off on 2024-05-01",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-01T12:42:48.395599Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "4.0",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "promoted panel to version 4.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-26T11:22:36.560481Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome to Stromme syndrome, OMIM:243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2024-04-23T11:43:43.699528Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Joubert Syndrome and Senior-Loken Syndrome 24 gene panel to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2024-03-05T12:52:55.344769Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_24_promote_green tag was added to gene: EXOC3L2.",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2024-03-05T12:50:55.132011Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: EXOC3L2 as Amber List (moderate evidence)",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2024-03-05T12:50:55.127446Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence for this gene to be green on this panel.",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2024-03-05T12:50:55.086721Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: exoc3l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2024-03-05T12:50:19.336043Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2024-03-05T12:49:55.657828Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2024-03-05T11:24:26.161923Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: EXOC3L2 were set to 28749478; 27894351",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2023-10-17T09:48:22.088618Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: FAM149B1.",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2023-10-17T09:48:11.878136Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: FAM149B1",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2023-10-16T16:10:56.289858Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.13",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: CBY1.",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2023-10-16T16:10:44.612202Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.13",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: CBY1",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:16:39.443756Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: TOGARAM1.",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:16:17.492925Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag watchlist_moi was removed from gene: SUFU.\nTag Q4_22_MOI was removed from gene: SUFU.\nTag Q4_22_promote_green was removed from gene: SUFU.\nTag Q4_22_expert_review was removed from gene: SUFU.",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:15:23.959343Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:13:11.933911Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: IFT74.",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:12:55.621453Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: CBY1.",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:10:53.087274Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: TOGARAM1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:10:53.067067Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:10:53.045915Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: IFT74: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:10:53.030774Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: CBY1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:10:18.496890Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TOGARAM1.\nSource NHS GMS was added to TOGARAM1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:10:18.085914Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SUFU.\nSource NHS GMS was added to SUFU.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:10:17.811282Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to IFT74.\nSource NHS GMS was added to IFT74.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2023-10-10T15:10:17.479422Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to CBY1.\nSource NHS GMS was added to CBY1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2023-05-11T11:31:08.540431Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_22_expert_review tag was added to gene: SUFU.",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-04-18T17:25:27.153404Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Not associated with a Joubert syndrome phenotype in OMIM, Gen2Phen or MONDO. PMID: 32139166 reports one homozygous CCDC28B variant (rs1407134) in a child with features of Joubert syndrome - polydactyly, severe intellectual disability and molar tooth sign in brain imaging. The fetal sibbling of this child (terminated) was also homozygous for this variant. The allele frequency of rs1407134 (gnomAD Exomes (V 2.1.1) ƒ = 0.0326) makes it unlikely to be disease causing. \r\nPMID: 23727834 demonstrates that CCDC28B is involved in the control of cilial length.; to: Not associated with a Joubert syndrome phenotype in OMIM, Gen2Phen or MONDO. PMID: 32139166 reports one homozygous CCDC28B variant (rs1407134) in a child with features of Joubert syndrome - polydactyly, severe intellectual disability and molar tooth sign in brain imaging. The fetal sibbling of this child (terminated) was also homozygous for this variant. The allele frequency of rs1407134 (gnomAD Exomes (V 2.1.1) ƒ = 0.0326) makes it unlikely to be disease causing, plus, it is classified as Benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1271446/).\r\nPMID: 23727834 demonstrates that CCDC28B is involved in the control of cilial length.",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2023-04-18T17:23:58.229327Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2023-04-18T17:10:12.890140Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CCDC28B were set to 32139166",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2023-04-18T16:46:41.179618Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CCDC28B as Red List (low evidence)",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2023-04-18T16:46:41.170507Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: ccdc28b has been classified as Red List (Low Evidence).",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2023-04-18T16:44:47.403394Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC28B were changed from Joubert syndrome to Joubert syndrome, MONDO:0018772",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2023-04-18T16:43:02.815013Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CCDC28B as Amber List (moderate evidence)",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2023-04-18T16:43:02.804456Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: ccdc28b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2023-04-18T16:02:24.597732Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green tag was added to gene: TOGARAM1.",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2023-04-18T16:02:04.424776Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: TOGARAM1: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. PMIDs:32747439; 32453716 report seven TOGARAM1 variants in five unrelated cases of Joubert syndrome 37, OMIM:619185. Supportive functional datawas presented PMIDs:32747439; 32453716.; Changed rating: GREEN",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:56:57.761055Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: TOGARAM1 as Amber List (moderate evidence)",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:56:57.736516Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.6",
"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": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:56:57.712837Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: togaram1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:53:04.692703Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: TOGARAM1 were changed from Joubert syndrome 37, MIM# 619185 to Joubert syndrome 37, OMIM:619185; Joubert syndrome 37, MONDO:0030933",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:42:38.999383Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: IFT74: Added comment: Associated with Joubert syndrome 40 in OMIM (OMIM:619582) and as a definitive gene for IFT74-associated ciliopathy in Gen2Phen. Five IFT74 variants have been associated with OMIM:619582, in four unrelated Chinese families, supportive functional studies have been perfomed on patient fibroblasts and zebra fish IFT74 morphants (PMID: 33531668).; Changed rating: GREEN",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:26:19.164277Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green tag was added to gene: IFT74.",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:26:03.534701Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: IFT74 as Amber List (moderate evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:26:03.530623Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.4",
"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": "IFT74",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:26:03.491002Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:19:42.100598Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: IFT74 were changed from Joubert syndrome to Joubert syndrome 40, OMIM:619582; Joubert syndrome 40, MONDO:0030462",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:10:04.718262Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_23_promote_green tag was added to gene: CBY1.",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2023-04-18T15:09:49.062339Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: CBY1: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 33131181 reports two frame shifting CBY1 variants ( NM_015373.3:c.189_190del; p.(Val65*) & NM_015373.3:c.64_65dup; p.(Asn23Profs*24)), one in each of two consanguineous families, where the parents were heterozygous and the affected children were homozygous. Extensive functional studies have shown the role of CBY1 in cilial formation and function, and the disruptive effect of the variants (PMID: 33131181; 25103236; 25220153).; Changed rating: GREEN",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2023-04-18T14:50:18.838807Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: CBY1 as Amber List (moderate evidence)",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2023-04-18T14:50:18.819610Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.2",
"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": "CBY1",
"entity_type": "gene"
},
{
"created": "2023-04-18T14:50:18.688948Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cby1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2023-03-22T15:05:51.546555Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.1",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T15:04:53.281114Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "3.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-20T13:57:39.191333Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID:35137054 reports three additional cases from two unrelated families and functional evidence including results from zebrafish model.",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2023-02-20T13:57:39.171585Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: TMEM218 were set to 25161209; 33791682; 35137054",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2023-02-20T13:57:28.757616Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID:35137054 reports three additional cases from two unrelated families and functional evidence including results from zebrafish model.",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2023-02-20T13:57:28.722739Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: TMEM218 were set to 25161209; 33791682",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2023-02-07T15:51:20.252377Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TBC1D32.",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2023-02-01T12:35:03.735244Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: ZNF423.\nTag Q3_22_expert_review was removed from gene: ZNF423.",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2023-02-01T12:34:53.389392Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. Additional comments from reviewing GLHs: \"Chaki paper from 2012 has not been well-replicated in the decade since. Some individual reports but nothing convincing. Lack of clear biallelic LOF variants reported in humans\"",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2023-02-01T12:32:58.802381Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: LAMA1.\nTag Q3_21_expert_review was removed from gene: LAMA1.",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2023-02-01T12:32:12.075524Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: ZNF423: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; Changed rating: AMBER",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2023-02-01T12:32:12.067667Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: LAMA1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2023-02-01T12:31:47.956263Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to LAMA1.\nSource NHS GMS was added to LAMA1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:52:13.030898Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SUFU as Amber List (moderate evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:52:13.027789Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update under a MONOALLELIC inheritance pattern only, unless the NHS GMS working group disagree and feel the MOI should include both mono- and biallelic variants based on the current evidence.",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:52:13.006775Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: sufu has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:51:55.952206Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Following consultation with Helen Brittain (Genomics England Clinical team) it was decided that based on the current evidence the MOI should be set to 'monoallelic' only for now but with a 'watchlist' tag to monitor for additional biallelic cases relating to a Joubert-like presentation.",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:51:55.936784Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:51:34.096641Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist_moi tag was added to gene: SUFU.\nTag Q4_22_MOI tag was added to gene: SUFU.\nTag Q4_22_promote_green tag was added to gene: SUFU.",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:51:11.379429Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: 21289193, 28965847, 33024317, 34675124; Phenotypes: Joubert syndrome 32, OMIM:617757; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:45:40.608590Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "2.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SUFU were set to ",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-11-30T13:51:42.350930Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"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": "2022-11-30T13:49:29.824719Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"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": "2022-11-08T15:47:39.921521Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from Joubert syndrome 32, 617757 to Joubert syndrome 32, OMIM:617757",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-10-05T16:33:51.952450Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.32",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q1_22_expert_review was removed from gene: ZNF423.\nTag Q3_22_rating tag was added to gene: ZNF423.\nTag Q3_22_expert_review tag was added to gene: ZNF423.",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2022-10-05T16:33:04.176325Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.32",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: ZNF423",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2022-09-22T16:00:17.447211Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: TBC1D32 were set to ",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2022-05-08T22:32:40.018079Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.31",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: SCLT1.",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2022-05-08T17:49:14.944477Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.31",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TMEM218.",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-05-07T23:11:03.002452Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.31",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TXNDC15.",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-03-31T14:03:52.847345Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ZNF423 were set to ",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2022-03-31T14:03:37.289835Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_22_expert_review tag was added to gene: ZNF423.",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2022-03-31T14:03:24.599500Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: ZNF423: There are now two unrelated families with homozygous variants and two cases with heterozygous variants in this gene associated with nephronophthisis or Joubert syndrome. Zfp423-mutant mice harbouring some variants (but not all - including one patient variant) displayed neuroanatomical abnormalities that were consistent with the human phenotype. Overall the evidence is borderline and therefore this gene will be flagged for GMS expert review to determine whether it should be upgraded to green at this stage.",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2022-03-31T14:03:15.263634Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ZNF423: Rating: ; Mode of pathogenicity: None; Publications: 22863007, 32925911, 33323469; Phenotypes: Joubert syndrome 19, OMIM:614844, Nephronophthisis 14, OMIM:614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2022-03-31T13:49:01.519021Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF423 were changed from Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844 to Joubert syndrome 19, OMIM:614844; Nephronophthisis 14, OMIM:614844",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:05:35.215046Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.29",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: TMEM218.\nTag Q4_21_NHS_review was removed from gene: TMEM218.",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:05:22.046849Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: TMEM218",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:05:01.872254Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.28",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to TMEM218.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:58:21.430268Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.27",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: PIBF1 were changed from Joubert syndrome; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia to Joubert syndrome 33, OMIM:617767; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:57:42.654350Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.26",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PIBF1.",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:57:28.909478Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: PIBF1",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2022-03-08T15:57:07.186246Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.25",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source Expert Review Green was added to PIBF1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2021-11-17T15:18:30.553537Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TMEM218 as Amber List (moderate evidence)",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-11-17T15:18:30.550286Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is sufficient evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-11-17T15:18:30.521679Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tmem218 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-11-17T15:18:18.045695Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_NHS_review tag was added to gene: TMEM218.",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-11-17T15:17:07.784837Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: TMEM218.",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-11-17T15:01:51.317285Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, OMIM:619562",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-11-17T14:50:09.239684Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TMEM218 were set to 25161209; https://doi.org/10.1016/j.xhgg.2020.100016",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:19:41.847851Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: It is also associated with ?Weyers acrofacial dysostosis, OMIM:193530.",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:19:41.828817Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530 to Ellis-van Creveld syndrome, OMIM:225500",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-10-21T16:20:35.883158Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.20",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: 33791682; Phenotypes: JOUBERT SYNDROME 39; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:32:47.263538Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ARL3 as Amber List (moderate evidence)",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:32:47.260721Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene submitted by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (possible - RP, and probable - Joubert syndrome).\r\n\r\nAs there are only 2 cases that have been associated with Joubert syndrome (PMID:30269812) and the knockout mouse model does not appear to have a neurological phenotype (PMID:16565502) this gene has been given an Amber rating until further evidence is available.",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:32:47.246079Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: arl3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:29:47.386337Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: ARL3.",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:29:33.320965Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID:30269812 describes 2 unrelated consanguineous families (Saudi and Pakistani). Both have phenotype resembling Joubert syndrome (night blindness, rod-cone dystrophy, mild dysmorphic features, hypotonia (only in 1 family), ataxia, cerebellar vernis hypoplasia). Both are homozygous missense for the same amino acid residue (R149C, R149H). The authors performed some in vitro functional analysis.\r\n\r\nPMID:16565502 describes a knockout mouse model of Arl3. The homozygous knockouts developed ciliary disease affecting kidney, biliary tract, pancreas and retina. However, there was no mention of a brain phenotype.\r\n\r\nPMID:31743939 describes 2 large consanguineous Pakastani families with the same homozygous variant (Arg99Ile). There are 8 affected individuals in total and 7/8 had cone-rod dystrophy and no features of Joubert syndrome.\r\n\r\nPMID:33748123 describes a Chinese family. Proband is compound het (c.91A>G, p.T31A; c.353G>T, p.C118F) and has retinal dystrophy. Heterozygous father has late onset and mild rode-cone dystrophy. Mother and sister (het) are normal. All family members did not have any other phenotypes.\r\n\r\nPMID:26964041 describes a family with affected mother, son and daughter with retinitis pigmentosa. Affected patients were heterozygosity for Y90C. The mother's parents do not have the variant suggesting that it is a de novo event in the mother. No functional studies of the variant were performed.\r\n\r\nPMID:30932721 reports a case where a patient has a de novo Y90C variant and has RP.\r\n\r\nPMID:34485303 reports a heterozygous Asp67Val variant segregating in an Ashkenazi Jewish family with a dominant inherited retinal degenerations.",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:29:33.299847Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ARL3 were set to 30269812; 16565502",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-09-06T14:01:52.003646Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: LAMA1 as Amber List (moderate evidence)",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-09-06T14:01:52.000224Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Clinical features of Poretti-Boltshauser syndrome resemble Joubert syndrome which can lead to misdiagnosis. Although not a ciliopathy per se, inclusion on ciliopathy panels may be warranted to enable differential diagnosis. The LAMA1 gene will be flagged for GMS specialist review to determine whether it is appropriate to include this gene on this panel.",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-09-06T14:01:51.970003Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: lama1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-09-06T13:49:04.078417Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: LAMA1.\nTag Q3_21_expert_review tag was added to gene: LAMA1.",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-09-06T13:47:28.188806Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Entity copied from Rare multisystem ciliopathy disorders v1.146",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-09-06T13:47:28.021325Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: LAMA1 was added\ngene: LAMA1 was added to Neurological ciliopathies. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMA1 were set to 25105227; 34423300\nPhenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome OMIM:615960; ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419\nPenetrance for gene: LAMA1 were set to Complete",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-08-10T09:46:12.751823Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ARL3 were changed from Joubert syndrome 35 MIM#61816 to Joubert syndrome 35, OMIM:61816",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-07-08T08:09:02.189357Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT74 was added\ngene: IFT74 was added to Neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to 33531668\nPhenotypes for gene: IFT74 were set to Joubert syndrome\nReview for gene: IFT74 was set to GREEN\nAdded comment: Gene is associated with BBS. Note new publication:\r\n\r\nPMID 33531668: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants. \nSources: Literature",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-03-05T06:21:17.061453Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOGARAM1 was added\ngene: TOGARAM1 was added to Neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOGARAM1 were set to 32747439; 32453716\nPhenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185\nReview for gene: TOGARAM1 was set to GREEN\nAdded comment: Six families reported with features of a ciliopathy, including molar tooth sign. \nSources: Literature",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-01-29T11:00:05.188577Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ICK were changed from short-rib thoracic dysplasia with polydactyly (SRTD); Endocrine-cerebroosteodysplasia, 612651; ECO to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2021-01-21T09:22:00.168332Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBY1 was added\ngene: CBY1 was added to Neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBY1 were set to 33131181; 25103236; 25220153\nPhenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome\nReview for gene: CBY1 was set to GREEN\ngene: CBY1 was marked as current diagnostic\nAdded comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants, with ID as a feature of the phenotype. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes. \nSources: Literature",
"entity_name": "CBY1",
"entity_type": "gene"
},
{
"created": "2021-01-15T12:10:12.784111Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KIF14 were changed from ?Meckel syndrome 12, 616258; complex brain malformation; ?Meckel syndrome 12; intrauterine growth restriction (IUGR); microcephaly; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; genitourinary malformation; renal cystic dysplasia/agenesis to Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2021-01-14T17:20:34.727762Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: B9D1 were changed from ?Meckel syndrome 9, 614209; ciliopathies; Meckel syndrome; Joubert syndrome 27 to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2021-01-14T16:19:57.987049Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: B9D2",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-01-14T16:15:26.116679Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: B9D2 were changed from Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-01-06T18:33:10.586840Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: RABL2A was added\ngene: RABL2A was added to Neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: RABL2A was set to Unknown\nPublications for gene: RABL2A were set to 33075816\nPhenotypes for gene: RABL2A were set to neural tube defects\nReview for gene: RABL2A was set to RED\nAdded comment: PMID: 33075816 - Ding et al 2020 - with the aim of identifying variants that affect male fertility, the authors report on mice expressing two RABL2A SNPs found to be rare (MAF between 2% and 0.02% in gnomAD, with a deleterious prediction from SIFT and PolyPhen-2, and to affect protein stability. Mice homozygous for these variants (p.L119F and p.V158F) were found to be show ciliopathy-associated disorders including male infertility, early growth retardation, excessive weight gain in adulthood, heterotaxia, pre-axial polydactyly, neural tube defects and hydrocephalus. \nSources: Literature",
"entity_name": "RABL2A",
"entity_type": "gene"
},
{
"created": "2020-12-09T07:00:47.799623Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM218 was added\ngene: TMEM218 was added to Neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM218 were set to 25161209; https://doi.org/10.1016/j.xhgg.2020.100016\nPhenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele\nReview for gene: TMEM218 was set to GREEN\nAdded comment: 11 individuals in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. \nSources: Literature",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:14:14.797072Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.10",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-19T10:51:29.757636Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PIBF1.",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-08-19T10:51:21.338874Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: PIBF1 were set to 26167768",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-08-19T10:50:59.087554Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PIBF1 as Amber List (moderate evidence)",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-08-19T10:50:59.084486Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: With the addition of the two recent reports, there are now at least 7 total families (4 with same founder variant) with Joubert syndrome associated with biallelic variants in this gene.",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-08-19T10:50:59.067693Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: pibf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-08-19T10:49:51.931367Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26167768, 29695797, 30858804; Phenotypes: Joubert syndrome 33, 617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-05-25T02:24:41.590077Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL3 was added\ngene: ARL3 was added to Neurological ciliopathies. Sources: Expert list\nMode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL3 were set to 30269812; 16565502\nPhenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#61816\nReview for gene: ARL3 was set to GREEN\ngene: ARL3 was marked as current diagnostic\nAdded comment: 4 individuals from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina. \nSources: Expert list",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2020-05-21T04:48:55.004858Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXOC3L2: Added comment: Four individuals from two unrelated families reported.; Changed rating: AMBER; Changed publications: 28749478, 27894351, 30327448; Changed phenotypes: hindbrain abnormalities, kidney and bone marrow abnormalities",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2020-05-21T04:34:51.418876Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC28B was added\ngene: CCDC28B was added to Neurological ciliopathies. Sources: Expert list\nMode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC28B were set to 32139166\nPhenotypes for gene: CCDC28B were set to Joubert syndrome\nReview for gene: CCDC28B was set to AMBER\nAdded comment: Note new publication relating to this gene, which has previously been postulated to be a modifier for BBS. PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers.\r\n\r\nBorderline Amber/Red but note knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia, providing some supportive evidence. \nSources: Expert list",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-05-07T11:03:06.048721Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.7",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: WDR63.",
"entity_name": "WDR63",
"entity_type": "gene"
},
{
"created": "2020-05-07T11:02:55.764374Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.7",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: WDR63",
"entity_name": "WDR63",
"entity_type": "gene"
},
{
"created": "2020-05-07T10:46:44.680206Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.7",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: KIAA0556.",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2020-05-07T10:29:21.376542Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.7",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: KIAA0556",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2020-03-04T11:46:51.626154Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.6",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-04T11:46:20.511387Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.5",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-27T11:20:03.264401Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"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": "2020-02-10T04:48:20.617816Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26167768, 30858804, 29695797; Phenotypes: Joubert syndrome 33, OMIM #617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-12-18T15:57:58.803730Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "1.0",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C5orf42.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-12-11T17:04:47.176274Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"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": "2019-12-11T17:03:52.963101Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-11T16:37:43.408829Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to Component Of Super Panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-29T14:50:50.150151Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome type 22 (JBTS22); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2019-10-02T08:39:23.876905Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: FAM149B1 as Amber List (moderate evidence)",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2019-10-02T08:39:23.874014Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: 3 founder variant cases reported plus one other. Some functional data. Changing rating from red to amber based on the 2 independent cases reported.",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2019-10-02T08:39:23.858096Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: fam149b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2019-10-02T08:38:58.134184Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: FAM149B1 was added\ngene: FAM149B1 was added to Neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM149B1 were set to 30905400\nPhenotypes for gene: FAM149B1 were set to Joubert syndrome; oral-facial-digital syndrome; OFD VI\nReview for gene: FAM149B1 was set to AMBER\nAdded comment: PMID: 30905400 - Shaheen et al 2019 - report 4 cases in which homozygous variants in the FAM149B1 gene are found in patients with a ciliopathy phenotype that most closely matches Joubert syndrome or Joubert syndrome/oral-facial-digital syndrome (OFD VI) . 3 of the cases in Consanguinity families of Arab origin have the same c.356_357del (p.Lys119Ilefs∗18) variant and haplotype analysis suggests a founder mutation. The fourth case in a Turkish family with Joubert syndrome was found to have a different homozygous truncating variant in the same gene (c.439C>T [p.Gln147∗])). Both variants are predicted to result in truncated proteins.\r\nFunctional studies - FAM149B1 encodes a protein of unknown function and mutant fibroblasts were found to have normal ciliogenesis potential. But some cilia-related abnormalities were observed in these cells: abnormal accumulation IFT complex at the distal tips of the cilia, which assumed bulbous appearance, increased length of the primary cilium, and dysregulated SHH signaling. \nSources: Literature",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2019-09-25T10:08:07.537737Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: ICK",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2019-09-25T10:07:59.590397Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: ICK.",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:40.261468Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: ZNF423 was added\ngene: ZNF423 was added to Neurological ciliopathies. Sources: Expert Review Amber\nMode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF423 were set to Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:40.195179Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: SUFU was added\ngene: SUFU was added to Neurological ciliopathies. Sources: Expert Review Amber\nMode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUFU were set to Joubert syndrome 32, 617757",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:40.130282Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: POC1B was added\ngene: POC1B was added to Neurological ciliopathies. Sources: Expert Review Amber\nMode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POC1B were set to Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY; Joubert Syndrome; Senior-Loken Syndrome",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:40.061639Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: WDR63 was added\ngene: WDR63 was added to Neurological ciliopathies. Sources: Expert Review Red\nMode of inheritance for gene: WDR63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: WDR63 were set to occipital encephalocele and inconsistent brain lobulation; ciliopathy-like disorder",
"entity_name": "WDR63",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.990269Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TBC1D32 was added\ngene: TBC1D32 was added to Neurological ciliopathies. Sources: Expert Review Red\nMode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D32 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.924865Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TAPT1 was added\ngene: TAPT1 was added to Neurological ciliopathies. Sources: Expert Review Red\nMode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAPT1 were set to 26365339\nPhenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.845742Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PIBF1 was added\ngene: PIBF1 was added to Neurological ciliopathies. Sources: Expert Review Red\nMode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIBF1 were set to 26167768\nPhenotypes for gene: PIBF1 were set to Joubert syndrome; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.786020Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PDE6D was added\ngene: PDE6D was added to Neurological ciliopathies. Sources: Expert Review Red\nMode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE6D were set to 24166846\nPhenotypes for gene: PDE6D were set to ?Joubert syndrome 22; Joubert Syndrome and Senior-Loken Syndrome 24 gene panel; ?Joubert syndrome 22, 615665",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.728123Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: KIF14 was added\ngene: KIF14 was added to Neurological ciliopathies. Sources: Expert Review Red\nMode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF14 were set to 24128419\nPhenotypes for gene: KIF14 were set to ?Meckel syndrome 12, 616258; complex brain malformation; ?Meckel syndrome 12; intrauterine growth restriction (IUGR); microcephaly; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; genitourinary malformation; renal cystic dysplasia/agenesis",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.660470Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: KIAA0556 was added\ngene: KIAA0556 was added to Neurological ciliopathies. Sources: Expert Review Red\nMode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIAA0556 were set to ?Joubert syndrome 26",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.592355Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: EXOC8 was added\ngene: EXOC8 was added to Neurological ciliopathies. Sources: Expert Review Red\nMode of inheritance for gene: EXOC8 was set to Unknown\nPublications for gene: EXOC8 were set to 22700954\nPhenotypes for gene: EXOC8 were set to No OMIM phenotype; Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)",
"entity_name": "EXOC8",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.523223Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: EXOC3L2 was added\ngene: EXOC3L2 was added to Neurological ciliopathies. Sources: Expert Review Red\nMode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC3L2 were set to 28749478; 27894351\nPhenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; enlarged echogenic kidneys; echogenic kidneys; hydrocephalus; anhydramnios",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.449716Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: B9D1 was added\ngene: B9D1 was added to Neurological ciliopathies. Sources: Expert Review Red\nMode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B9D1 were set to 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance); 24886560 (2 cases with Joubert); 25920555 (report a case with heterozygous mutations in CC2D2A and B9D1)\nPhenotypes for gene: B9D1 were set to ?Meckel syndrome 9, 614209; ciliopathies; Meckel syndrome; Joubert syndrome 27",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.386875Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZSWIM6 were set to 25105228\nPhenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis 603671\nMode of pathogenicity for gene: ZSWIM6 was set to Other - please provide details in the comments",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.322661Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: VPS13B was added\ngene: VPS13B was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13B were set to Cohen syndrome, 216550; COHEN SYNDROME",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.257667Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TXNDC15 was added\ngene: TXNDC15 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TXNDC15 were set to 27894351\nPhenotypes for gene: TXNDC15 were set to MGS; Meckel-Gruber syndrome",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.198227Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TMEM67 was added\ngene: TMEM67 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM67 were set to PMID: 16415887; PMID: 17160906; PMID: 19058225; PMID: 19508969; PMID: 20607301; PMID: 18327255\nPhenotypes for gene: TMEM67 were set to Joubert syndrome; nephronophthisis; COACH syndrome; Joubert syndrome 6; ?Bardet-Biedl syndrome?; Senior-Boichis syndrome; 613550; 607361; Meckel-Gruber syndrome; Meckel syndrome; 610688; Nephronophthisis 11; 216360",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.137996Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TMEM237 was added\ngene: TMEM237 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM237 were set to 22152675; 20301500\nPhenotypes for gene: TMEM237 were set to Joubert syndrome; Joubert syndrome with oculorenal defect; Joubert syndrome 14",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.076635Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TMEM231 was added\ngene: TMEM231 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM231 were set to Meckel syndrome; Joubert syndrome 20; Joubert syndrome with oculorenal defect; Joubert syndrome 20, 614970; Meckel syndrome 11, 615397",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:39.014504Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TMEM216 was added\ngene: TMEM216 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM216 were set to 22282472; 20036350; 20512146\nPhenotypes for gene: TMEM216 were set to Joubert syndrome: Meckel-Gruber syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome; Joubert syndrome 2",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.949455Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TMEM138 was added\ngene: TMEM138 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM138 were set to 22282472\nPhenotypes for gene: TMEM138 were set to Joubert syndrome with oculorenal defect; Joubert syndrome 16",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.884330Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TMEM107 was added\ngene: TMEM107 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM107 were set to 26518474; 26123494; 22698544; 26595381\nPhenotypes for gene: TMEM107 were set to Meckel syndrome 13 617562; ?Joubert syndrome 29 617562; Orofaciodigital syndrome XVI 617563",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.824260Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TCTN3 was added\ngene: TCTN3 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCTN3 were set to 25118024; 22883145\nPhenotypes for gene: TCTN3 were set to Joubert syndrome; Orofaciodigital syndrome IV; Joubert syndrome 18; Meckel-Gruber; Mohr-Majewski syndrome",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.751897Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TCTN2 was added\ngene: TCTN2 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCTN2 were set to 25118024; 21565611\nPhenotypes for gene: TCTN2 were set to Meckel syndrome; Joubert syndrome 24; Joubert syndrome, Meckel-Gruber syndrome",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.689954Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: TCTN1 was added\ngene: TCTN1 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCTN1 were set to 20301500; 22693042; 26489806; 21725307; 26477546; 28631893\nPhenotypes for gene: TCTN1 were set to Joubert syndrome",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.630478Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: SCLT1 was added\ngene: SCLT1 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCLT1 were set to 15797711\nPhenotypes for gene: SCLT1 were set to Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36); No OMIM phenotype",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.565283Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: RPGRIP1L was added\ngene: RPGRIP1L was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPGRIP1L were set to 17558409; 17558407; 19574260\nPhenotypes for gene: RPGRIP1L were set to Joubert syndrome 7; Meckel syndrome 5; Joubert syndrome; Meckel syndrome; Meckel-Gruber syndrome",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.503942Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMM2 were set to 9140401\nPhenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.441500Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: OFD1 was added\ngene: OFD1 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: OFD1 were set to 19800048; 22353940\nPhenotypes for gene: OFD1 were set to Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.379044Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: NPHP3 was added\ngene: NPHP3 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia; Senior-Loken syndrome; Nephronophthisis 3, 604387; Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.322970Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: NPHP1 was added\ngene: NPHP1 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPHP1 were set to 15138899; 22982934; 15689444\nPhenotypes for gene: NPHP1 were set to Joubert syndrome 4; Senior-Loken syndrome; 256100 Senior-Loken syndrome-1, 266900; 609583 Nephronophthisis 1, juvenile; Nephronophthisis",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.259062Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MKS1 were set to 26490104; 17437276; 18327255; 24886560; 16415886\nPhenotypes for gene: MKS1 were set to occipital encephalocele; Joubert syndrome; Bardet-Biedl syndrome; Joubert syndrome 28; 249000; polydactyly; polycystic kidneys; Meckel-Gruber syndrome; Meckel syndrome; renal fibrosis\nMode of pathogenicity for gene: MKS1 was set to Other - please provide details in the comments",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.196719Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: KIF7 was added\ngene: KIF7 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF7 were set to 21633164\nPhenotypes for gene: KIF7 were set to Joubert syndrome 12 200990; Acrocallosal syndrome 200990",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.131712Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: KIAA0753 was added\ngene: KIAA0753 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0753 were set to 26643951\nPhenotypes for gene: KIAA0753 were set to Orofaciodigital syndrome XV 617127",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.066043Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: KIAA0586 was added\ngene: KIAA0586 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0586 were set to 26096313\nPhenotypes for gene: KIAA0586 were set to Joubert syndrome 23; Joubert syndrome; Short-rib thoracic dysplasia 14 with polydactyly; Short-rib dysplasia 14 with polydactyly",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:38.004437Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: INPP5E was added\ngene: INPP5E was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP5E were set to 23386033; 26748598\nPhenotypes for gene: INPP5E were set to Joubert syndrome; Joubert syndrome 1",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.943949Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: ICK was added\ngene: ICK was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ICK were set to 19185282; 27069622; 27466187\nPhenotypes for gene: ICK were set to short-rib thoracic dysplasia with polydactyly (SRTD); Endocrine-cerebroosteodysplasia, 612651; ECO",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.885137Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: HYLS1 was added\ngene: HYLS1 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYLS1 were set to 26830932 - report in two siblings with Joubert syndrome; 19656802 - impairment in ciligenesis; 18648327 - Hydrolethalus syndrome; 15843405 - Hydrolethalus syndrome\nPhenotypes for gene: HYLS1 were set to Joubert syndrome; Hydrolethalus syndrome, 236680",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.829007Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: GLI3 was added\ngene: GLI3 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GLI3 were set to Joubert Syndrome and Senior-Loken Syndrome 24 gene panel",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.772595Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: EVC2 was added\ngene: EVC2 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.716951Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: EVC was added\ngene: EVC was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.662044Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR7 were set to 9634533\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.607440Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: DDX59 was added\ngene: DDX59 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDX59 were set to 29127725; 23972372; 28711741\nPhenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.552705Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CSPP1 was added\ngene: CSPP1 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSPP1 were set to 24360807; 24360803; 24360808\nPhenotypes for gene: CSPP1 were set to Joubert syndrome; Meckel syndrome; Joubert syndrome 21; Meckel-Gruber syndrome",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.494828Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CRB2 was added\ngene: CRB2 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRB2 were set to 25557780\nPhenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease 219730",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.432871Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CEP41 was added\ngene: CEP41 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP41 were set to 22246503\nPhenotypes for gene: CEP41 were set to Joubert syndrome 15",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.374431Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP290 were set to 20690115; 18327255\nPhenotypes for gene: CEP290 were set to 610189; Meckel syndrome 4; Senior-Loken syndrome; 611755; Joubert syndrome 5; Joubert syndrome with oculorenal defect; 610188; Senior-Loken syndrome 6; 611134; Meckel syndrome",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.316850Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CEP104 was added\ngene: CEP104 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP104 were set to 26477546\nPhenotypes for gene: CEP104 were set to Joubert syndrome 25, 616781; Joubert syndrome 25",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.257876Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CENPF was added\ngene: CENPF was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CENPF were set to 26820108\nPhenotypes for gene: CENPF were set to Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.200040Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: CC2D2A was added\ngene: CC2D2A was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to Joubert syndrome 9; COACH syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome 6; Meckel syndrome",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.135507Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: C5orf42 was added\ngene: C5orf42 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C5orf42 were set to 22693042; 25920555; 22425360\nPhenotypes for gene: C5orf42 were set to Joubert syndrome; Oral-facial-digital syndrome type VI; Joubert syndrome 17",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.078732Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: C2CD3 was added\ngene: C2CD3 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C2CD3 were set to 24997988; 26044959; 27094867\nPhenotypes for gene: C2CD3 were set to short-rib polydactyly syndromes (SRPS; MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200)",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:37.018729Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: B9D2 was added\ngene: B9D2 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B9D2 were set to 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes; 26092869 - two further cases with Joubert syndrome reported from two different families\nPhenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:36.957653Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: ARMC9 was added\ngene: ARMC9 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARMC9 were set to 28625504\nPhenotypes for gene: ARMC9 were set to Joubert syndrome 30, 617622",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:36.897697Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: ARL13B was added\ngene: ARL13B was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL13B were set to 18674751; 25138100\nPhenotypes for gene: ARL13B were set to Joubert syndrome 8",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:42:36.829632Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.3",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "gene: AHI1 was added\ngene: AHI1 was added to Neurological ciliopathies. Sources: Expert Review Green\nMode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AHI1 were set to Joubert syndrome 3; Joubert syndrome; Joubert syndrome-3.",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2019-07-25T11:20:17.063982Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-22T13:30:29.360073Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.1",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-10T09:34:59.222965Z",
"panel_name": "Neurological ciliopathies",
"panel_id": 724,
"panel_version": "0.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Added Panel Neurological ciliopathies\nSet panel types to: GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
}
]