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[
{
"created": "2024-03-12T17:00:27.470532Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SDHAF3 as Red List (low evidence)",
"entity_name": "SDHAF3",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:00:27.465993Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
"entity_name": "SDHAF3",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:00:27.430417Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: sdhaf3 has been classified as Red List (Low Evidence).",
"entity_name": "SDHAF3",
"entity_type": "gene"
},
{
"created": "2024-03-12T16:59:57.695502Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SDHAF4 as Red List (low evidence)",
"entity_name": "SDHAF4",
"entity_type": "gene"
},
{
"created": "2024-03-12T16:59:57.691513Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
"entity_name": "SDHAF4",
"entity_type": "gene"
},
{
"created": "2024-03-12T16:59:57.656998Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: sdhaf4 has been classified as Red List (Low Evidence).",
"entity_name": "SDHAF4",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:25:42.364551Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:24:38.225100Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: SDHA: Test",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:24:04.770134Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:23:26.416271Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:21:53.391873Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: SDHB: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2023-06-01T11:21:53.372974Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: SDHA: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2023-03-22T18:07:22.716308Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.3",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 2.2 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T18:06:57.657482Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.2",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel signed off version 2.0 has been removed",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T16:28:13.540266Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.1",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel version 2.0 has been signed off on 2022-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T16:27:26.049912Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "2.0",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-01T11:44:08.079308Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: SDHB.\nTag Q3_22_NHS_review was removed from gene: SDHB.",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:43:22.249815Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_22_MOI was removed from gene: SDHA.\nTag Q3_22_NHS_review was removed from gene: SDHA.",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:40:38.984867Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:40:38.971230Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: SDHA",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:40:24.040000Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to SDHB.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:40:23.984139Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-08-30T15:45:06.569521Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SDHA were set to ",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-08-30T15:43:53.089443Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000 to Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011; Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259; Cardiomyopathy, dilated, 1GG, OMIM:613642",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-08-30T13:41:40.145566Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SDHB were changed from No OMIM phenotype to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2022-08-30T13:41:13.567935Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SDHB were set to 22972948",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2022-08-30T09:31:19.493971Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 33471299, 10976639, 27683074; Phenotypes: Mitochondrial complex II deficiency, nuclear type 1, OMIM: 252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM: 619259, Cardiomyopathy, dilated, 1GG, OMIM: 613642; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-08-30T09:24:45.378447Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 22972948, 32124427, 26925370, 27604842; Phenotypes: Mitochondrial complex II deficiency, nuclear type 4, OMIM: 619224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2022-08-26T14:12:29.825655Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_MOI tag was added to gene: SDHA.\nTag Q3_22_NHS_review tag was added to gene: SDHA.",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-08-26T10:48:21.867983Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: SDHB.\nTag Q3_22_NHS_review tag was added to gene: SDHB.",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-02-17T15:54:33.696847Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T16:07:20.249607Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T16:06:40.997848Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.18",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to R354\nPanel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-11T13:05:30.205832Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFA11; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.; to: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: SDHB; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:44:40.507485Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: SDHD as ready",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:44:40.502423Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Green List (High Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:44:32.202598Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: SDHD as Green List (high evidence)",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:44:32.200121Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported (three different variants) with functional evidence.",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:44:32.186089Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Green List (High Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:39:25.871998Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: SDHD were set to ",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:39:07.470813Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: SDHC as ready",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:39:07.468140Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:39:07.440273Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: sdhc has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:38:48.750859Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: SDHB as ready",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:38:48.748253Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:38:48.733771Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: sdhb has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:38:25.935326Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: SDHAF4 as ready",
"entity_name": "SDHAF4",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:38:25.932221Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "SDHAF4",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:38:25.910489Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: sdhaf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHAF4",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:37:58.973108Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: SDHAF3 as ready",
"entity_name": "SDHAF3",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:37:58.970593Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "SDHAF3",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:37:58.942759Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHAF3",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:37:35.472932Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: SDHAF2 as ready",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:37:35.470370Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:37:35.440427Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:36:40.430241Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: SDHAF1 as ready",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:36:40.421963Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: sdhaf1 has been classified as Green List (High Evidence).",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:36:34.542879Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: SDHAF1 as Green List (high evidence)",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:36:34.540280Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. At least 3 families reported.",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:36:34.520691Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: sdhaf1 has been classified as Green List (High Evidence).",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:33:45.517839Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.13",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: SDHAF1 were set to ",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:31:56.990860Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.12",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: 24367056, 26008905; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:31:56.977369Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.12",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:31:56.965010Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.12",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:31:56.950969Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.12",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SDHAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "SDHAF4",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:31:56.921844Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.12",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SDHAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "SDHAF3",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:31:56.909142Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.12",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2019-05-10T10:31:56.894943Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.12",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19465911, 22995659, 26642834; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:48:17.557427Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.11",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: SDHAF4 as Amber List (moderate evidence)",
"entity_name": "SDHAF4",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:48:17.549402Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.11",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: sdhaf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHAF4",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:48:00.961618Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.10",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: SDHB as Amber List (moderate evidence)",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:48:00.955557Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.10",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: sdhb has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:47:44.103495Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.9",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: SDHC as Amber List (moderate evidence)",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:47:44.096309Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.9",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: sdhc has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:47:28.017473Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.8",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: SDHD as Amber List (moderate evidence)",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:47:28.009618Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.8",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:47:05.700822Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.7",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: SDHAF3 as Amber List (moderate evidence)",
"entity_name": "SDHAF3",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:47:05.694850Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.7",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHAF3",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:46:42.357050Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.6",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: SDHAF2 as Amber List (moderate evidence)",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:46:42.336913Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.6",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:46:19.156009Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.5",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: SDHAF1 as Amber List (moderate evidence)",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-03-25T15:46:19.148071Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.5",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: sdhaf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:33.397022Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:33.383372Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:33.369078Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:33.355092Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SDHAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "SDHAF4",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:33.341933Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SDHAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "SDHAF3",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:33.327939Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:33.313263Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:33.299251Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011, Leigh syndrome, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:24.271039Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SDHD was added\ngene: SDHD was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:24.231007Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SDHC was added\ngene: SDHC was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SDHC was set to Unknown\nPhenotypes for gene: SDHC were set to No OMIM phenotype",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:24.187245Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SDHB was added\ngene: SDHB was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SDHB were set to 22972948\nPhenotypes for gene: SDHB were set to No OMIM phenotype",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:24.145849Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SDHAF4 was added\ngene: SDHAF4 was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SDHAF4 was set to Unknown\nPhenotypes for gene: SDHAF4 were set to No OMIM phenotype",
"entity_name": "SDHAF4",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:24.106252Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SDHAF3 was added\ngene: SDHAF3 was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SDHAF3 was set to Unknown\nPhenotypes for gene: SDHAF3 were set to No OMIM phenotype",
"entity_name": "SDHAF3",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:24.060709Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SDHAF2 was added\ngene: SDHAF2 was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SDHAF2 was set to Unknown\nPhenotypes for gene: SDHAF2 were set to No OMIM phenotype",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:24.018547Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SDHAF1 was added\ngene: SDHAF1 was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:31:23.971627Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SDHA was added\ngene: SDHA was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2018-11-16T10:23:42.312236Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Mitochondrial disorder with complex II deficiency\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]