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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1755",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1753",
"results": [
{
"created": "2020-06-29T20:29:05.139857+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYROXD1 as ready",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:29:05.132964+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Mostly myopathy, some families reported with LGMD phenotype.",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:29:05.075624+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:28:41.381770+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PYROXD1 as Amber List (moderate evidence)",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:28:41.369392+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:26:50.846824+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BVES as ready",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:26:50.830467+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bves has been classified as Amber List (Moderate Evidence).",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:26:47.378329+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BVES were set to PMID: 26642364; 31119192",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:26:17.290896+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BVES as Amber List (moderate evidence)",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:26:17.279370+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bves has been classified as Amber List (Moderate Evidence).",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:25:32.308127+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BVES as ready",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:25:32.297702+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bves has been classified as Green List (High Evidence).",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:25:28.573774+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BVES were set to PMID: 26642364 32528171 31119192",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:25:22.029862+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BVES as Green List (high evidence)",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:25:22.009621+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bves has been classified as Green List (High Evidence).",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:21:07.853364+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BAG3 as ready",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:21:07.847936+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Phenotypic overlap.",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:21:07.806546+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bag3 has been classified as Green List (High Evidence).",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:20:56.724281+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BAG3 as Green List (high evidence)",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:20:56.714760+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bag3 has been classified as Green List (High Evidence).",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:20:16.625845+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2A1 as ready",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:20:16.607432+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2a1 has been classified as Green List (High Evidence).",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:19:50.527893+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ5 as ready",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:19:50.518110+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:18:56.988331+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTA1 as ready",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:18:56.983809+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Phenotypic overlap.",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:18:56.950236+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acta1 has been classified as Green List (High Evidence).",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:18:47.780767+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTA1 were set to PMID: 28606400; 25938801",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:18:41.055646+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTA1 were changed from ?Myopathy, scapulohumeroperoneal\t616852 to Myopathy, scapulohumeroperoneal\t616852",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:18:15.034809+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTA1 as Green List (high evidence)",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:18:15.011477+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acta1 has been classified as Green List (High Evidence).",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:17:03.838772+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SELENON as ready",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:17:03.827382+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenon has been classified as Green List (High Evidence).",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:17:00.990667+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SELENON were changed from to Muscular dystrophy, rigid spine, 1 (MIM#602771)",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:16:36.905314+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SELENON were set to ",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:16:13.780081+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:15:52.453934+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SELENON was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:15:31.314896+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SELENON was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:14:12.304819+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADVL as ready",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:14:12.300061+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Some phenotypic overlap in view of reports of raised CK, and some individuals having clinical diagnosis of LGMD.",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:14:12.267963+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadvl has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:13:41.295640+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACADVL as Amber List (moderate evidence)",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:13:41.286366+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadvl has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:11:48.419415+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, tubular aggregate, 1 (MIM#160565), Stormorken syndrome (MIM#185070); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:11:29.852516+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIM1 as ready",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:11:29.840697+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:10:27.868878+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STIM1 as Amber List (moderate evidence)",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:10:27.855659+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:08:23.995314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA6 as ready",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:08:23.981075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata6 has been classified as Green List (High Evidence).",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:08:16.948583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA6 were changed from to Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Persistent truncus arteriosus, 217095",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:07:56.503523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA6 were set to ",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:07:36.181291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GATA6 was changed from to Other",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:07:15.781201+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:04:39.636711+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VMA21 as ready",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:04:39.632652+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Phenotypic overlap with LGMD.",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:04:39.599135+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vma21 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:04:20.408302+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VMA21 as Amber List (moderate evidence)",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:04:20.398524+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vma21 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-06-29T20:04:13.755523+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: VMA21.",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-06-29T16:27:07.887800+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: PFKM was added\ngene: PFKM was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review\nMode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PFKM were set to 24427140; 27066546; 30792690\nPhenotypes for gene: PFKM were set to Glycogen storage disease VII (MIM#232800)\nReview for gene: PFKM was set to AMBER\nAdded comment: Metabolic myopathy gene due to accumulation of glycogen in muscle tissue. Unsure if consisten with LGMD phenotype. \r\n\r\nPMID: 24427140: Adult patient reported with lifelong muscle weakness.\r\n\r\nPMID: 27066546: 2 siblings reported with glycogen storage disease. Juvenile onset exercise intolerance. Muscle biopsy showed myopathic changes in both siblings.\r\n\r\nPMID: 30792690: 1 adult patient reported, onset at 33. Presented with mild proximal muscle weakness, mainly in the lower limbs. \nSources: Expert Review",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2020-06-29T16:24:52.088209+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.8",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24427140, 27066546, 30792690; Phenotypes: Glycogen storage disease VII (MIM#232800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2020-06-29T15:17:53.762100+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: None; Publications: 24556084, 24925318, 29910097; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 (MIM#616094); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2020-06-29T13:47:41.093995+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CAV3 was added\ngene: CAV3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list\nMode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CAV3 were set to PMID: 27312022; 26185955; 32090499\nPhenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072\nReview for gene: CAV3 was set to AMBER\nAdded comment: PMID: 27312022 - 8 patients (7 families) with exercise intolerance (7/8), muscle atrophy (2/8) and rhabdomyolysis (2/8). Functional studies show a 50% reduction in protein from patient cells vs controls. Age at onset ranged from 7 years old to 30s, with 3/8 patients presenting <18 years of age.\r\n\r\nPMID: 26185955 - 2 patients with muscle hypertrophy \nSources: Expert list",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-29T13:44:20.412946+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: PYGM was added\ngene: PYGM was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review\nMode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYGM were set to 29143597; 25914343\nPhenotypes for gene: PYGM were set to McArdle disease (MIM#232600)\nReview for gene: PYGM was set to AMBER\nAdded comment: Well established gene disease association. McArdle disease is \"one of the most frequent metabolic myopathies\". Included in this panel as a differential diagnosis to LGMD (PanelApp Uk) \nSources: Expert Review",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-29T13:30:49.055753+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CASQ1 was added\ngene: CASQ1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list\nMode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CASQ1 were set to PMID: 26136523; 30258016\nPhenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with CASQ1 aggregates 616231\nReview for gene: CASQ1 was set to GREEN\nAdded comment: PMID: 26136523 - 3 unrelated families (10 patients) with a founder missense (p.Asp244Gly) with muscle weaknesses. All patients reported adult onset. 1 proband reported lower limb hypertrophy with normal EMG results. 6 patients had muscle biopsy, with minimal fibre size variation, and a few central nuclei.\r\n\r\nPMID: 30258016 - 12 families (22 patients), or which 21 had the recurring p.Asp244Gly mutation. Patients all had adult onset, elevated CK, with slowly progressive proximal weakness with quadriceps atrophy and scapular winging. Pelvic girdle weakness was reported in 4/22 patients. \nSources: Expert list",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-06-29T13:20:26.484563+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CACNB1 as Red List (low evidence)",
"entity_name": "CACNB1",
"entity_type": "gene"
},
{
"created": "2020-06-29T13:20:26.475019+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cacnb1 has been classified as Red List (Low Evidence).",
"entity_name": "CACNB1",
"entity_type": "gene"
},
{
"created": "2020-06-29T13:20:15.931423+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CACNB1: Rating: RED; Mode of pathogenicity: None; Publications: 27832566, 8943043, 29212769; Phenotypes: Malignant hyperthermia; Mode of inheritance: Unknown",
"entity_name": "CACNB1",
"entity_type": "gene"
},
{
"created": "2020-06-29T13:12:54.401710+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PYROXD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30345904, 30515627, 27745833; Phenotypes: Myopathy, myofibrillar, 8 (MIM#617258); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2020-06-29T13:11:10.680978+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: BVES was added\ngene: BVES was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: BVES was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BVES were set to PMID: 26642364; 31119192\nPhenotypes for gene: BVES were set to Muscular dystrophy, limb-girdle, autosomal recessive 25 616812\nReview for gene: BVES was set to AMBER\nAdded comment: OMIM: aka POPDC1\r\n\r\nPMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.\r\n\r\nPMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.\r\n\r\nSummary: multiple reports of patients with arrhythmias \nSources: Literature",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T13:09:56.503987+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: BVES was added\ngene: BVES was added to Limb Girdle Muscular Dystrophy. Sources: Expert list\nMode of inheritance for gene: BVES was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BVES were set to PMID: 26642364 32528171 31119192\nPhenotypes for gene: BVES were set to Muscular dystrophy, limb-girdle, autosomal recessive 25 616812\nReview for gene: BVES was set to GREEN\nAdded comment: OMIM: aka POPDC1\r\n\r\nPMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.\r\n\r\nPMID: 32528171 - 1 patient with limb girdle weakness.\r\n\r\nPMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness. \nSources: Expert list",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2020-06-29T12:50:56.338862+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: BAG3 was added\ngene: BAG3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list\nMode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BAG3 were set to PMID: 25208129; 22734908; 30061062\nPhenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954\nReview for gene: BAG3 was set to GREEN\nAdded comment: OMIM notes onset is in late childhood to early teens. Mutation p.Pro209Leu is recurring.\r\n\r\nPMID: 25208129 - 1 heterozygous patient with lower limb weakness and onset at 34 years.\r\n\r\nPMID: 22734908 - 4 patients with heterozygous mutations.\r\nPatient 1 - onset at 13 years old with lumbar spine rigidity, finger flexion constractures and distal wasting in upper/lower limbs.\r\nPatient 2 - onset 8 years old with muscle stiffness in lower limbs and distal wasting at 12 years old.\r\nPatient 3 - lower limb deformity at 7 years old with declining mobility by 11 years of age.\r\nPatient 4 - Unknown onset but wheelchair bound by 14 years old.\r\n\r\nPMID: 30061062 - 1 patient with a de novo mutation, and childhood onset proximal muscle weakness and atrophy, with elevated CK. \nSources: Expert list",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2020-06-29T12:40:23.585283+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ATP2A1 were set to ",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2020-06-29T12:39:30.232883+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNJ5 was added\ngene: KCNJ5 was added to Skeletal Muscle Channelopathies. Sources: Expert list\nMode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ5 were set to 24574546\nPhenotypes for gene: KCNJ5 were set to Andersen-Tawil Syndrome; periodic muscle paralysis\nReview for gene: KCNJ5 was set to RED\nAdded comment: Only a single Japanese case with periodic muscle paralysis with no dysmorphic features, reported with the missense variant p.Gly387Arg. In vitro functional expression studies in Xenopus oocytes showed that coexpression of KCNJ2 with mutant KCNJ5 significantly reduced the inwardly rectifying potassium current compared to that observed with coexpression of KCNJ2 with wildtype KCNJ5. However, the East Asian allele frequency for this variant in gnomAD v2.1 is 0.00251 (50/19,924 alleles). Which is higher than would be expected for a dominantly inherited disorder. \nSources: Expert list",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2020-06-29T12:36:57.989865+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ACTA1 was added\ngene: ACTA1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list\nMode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ACTA1 were set to PMID: 28606400; 25938801\nPhenotypes for gene: ACTA1 were set to ?Myopathy, scapulohumeroperoneal\t616852\nReview for gene: ACTA1 was set to GREEN\nAdded comment: PMID: 28606400 - 1 multigenerational family with dominant ACTA1-scapuloperoneal\r\nmyopathy. Proband has progressive limb weakness since childhood, spinal muscular atrophy based on two EMG analyses. Affected carrier children also reported upper limb weakness with onset in chlidhood/teenage years.\r\n\r\nPMID: 25938801 - 1 large family (14 affecteds) with dominant ACTA1-scapuloperoneal myopathy. Muscle biopsy specimens demonstrated type I fiber atrophy. Many reported upper and lower body muscle weakness, with age of onset variable between early childhood and adulthood.\r\n\r\nPMID: 15832616 - 1 child with a de novo missense mutation, proximal muscle weakness and hypotonia of the shoulder girdle \nSources: Expert list",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-06-29T12:23:43.717013+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.48",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528383; Phenotypes: Muscular dystrophy, rigid spine, 1 (MIM#602771); Mode of inheritance: None",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2020-06-29T12:08:11.376623+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ACADVL was added\ngene: ACADVL was added to Limb Girdle Muscular Dystrophy. Sources: Expert list\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACADVL were set to PMID: 9546340; 32558070; 22097235; 24305961\nPhenotypes for gene: ACADVL were set to VLCAD deficiency\t201475\nReview for gene: ACADVL was set to AMBER\nAdded comment: PMID: 9546340 - 4/15 patients developed elevated CK levels and rhabdomyolysis within the first year of life. No mention of myopathy or specific dystrophic features.\r\n\r\nPMID: 32558070 - 6 unrelated patients with adult-onset VLCAD deficiency. 4/6 had muscle weakness of the neck flexion, arms abduction and elbow flexion. CK levels varied among the patients, though most were elevated.\r\nFour patients had an EMG showed myopathic changes of the upper and lower limbs, one did not report muscle weakness.\r\nOnly 1/6 patients were reported with significant changes on muscle MRI.\r\n\r\nPMID: 22097235 - One 18 year old patient with persistent muscle cramps, elevated CK levels. Patient was diagnosed with limb girdle MD, at 21 years old struggled to climb stairs or walk\r\n\r\nPMID: 24305961 - 8/12 patients reported either muscle pain and/or exercise intolerance, 9/12 had elevated CK levels. VLCADD patients showed predominantly proximal T1W SI changes.\r\n\r\nSummary: dystrophic changes have been reported but does not appear to be a common feature \nSources: Expert list",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-06-29T11:50:21.439543+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: STIM1 was added\ngene: STIM1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review\nMode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: STIM1 were set to 31448844\nPhenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, 1 (MIM#160565); Stormorken syndrome\t(MIM#185070)\nMode of pathogenicity for gene: STIM1 was set to Other\nReview for gene: STIM1 was set to GREEN\nAdded comment: Dominant STIM1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)\r\n\r\nPMID: 31448844: Review article. Dominant STIM1 missense variants exert gain of function effect. Variants in EF hand reported in >3 families with childhood and adulthood onset of LGMD. \nSources: Expert Review",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-06-29T10:15:23.905260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3177",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:20581743, 19666519; Phenotypes: Pancreatic agenesis and congenital heart defects, 600001, Atrial septal defect 9, 614475, Atrioventricular septal defect 5, 614474, Tetralogy of Fallot, 187500, Persistent truncus arteriosus, 217095; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-06-29T08:33:36.925798+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: VMA21 was added\ngene: VMA21 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review\nMode of inheritance for gene: VMA21 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: VMA21 were set to 27916343; 25809233; 23315026\nPhenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy (MIM#310440)\nReview for gene: VMA21 was set to AMBER\nAdded comment: Childhood onset muscle disease, primarily affecting proximal muscles and elevated CK. No other muscle group involvement. Characterize by progressive muscle weakness with a limb-girdle pattern (PMID: 25809233). Differential diagnosis with LGMD (PanelApp UK)\r\n\r\nIntronic variants in multiple families. Onset in childhood\r\n\r\nPMID: 25809233: Different splice site variants reported in 2 families, onset in childhood.\r\n\r\nPMID: 23315026: 5 splice region and 1 missense reported in 14 families with multiple affected. Quantitative RT-PCR from patient fibroblasts demonstrated reduction in VMA21 mRNA.\r\nSources: Expert Review \nSources: Expert Review",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-06-28T18:37:31.545721+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH2 were changed from Intellectual disability; corpus callosum abnormalities; congenital abnormalities to Intellectual disability; corpus callosum abnormalities; congenital abnormalities; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM#\t618929",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-06-28T18:36:53.640404+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDH2: Changed phenotypes: Intellectual disability, corpus callosum abnormalities, congenital abnormalities, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-06-28T18:36:25.467913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH2 were changed from Intellectual disability; corpus callosum abnormalities; congenital abnormalities to Intellectual disability; corpus callosum abnormalities; congenital abnormalities; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM#\t618929",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-06-28T18:35:57.709263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDH2: Changed phenotypes: Intellectual disability, corpus callosum abnormalities, congenital abnormalities, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-06-28T18:35:34.643995+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH2 were changed from Intellectual disability; corpus callosum abnormalities; congenital abnormalities to Intellectual disability; corpus callosum abnormalities; congenital abnormalities; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM#\t618929",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-06-28T18:34:51.042580+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDH2: Changed phenotypes: Intellectual disability, corpus callosum abnormalities, congenital abnormalities, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-06-28T12:12:44.870006+10:00",
"panel_name": "Arrhythmia_SuperPanel",
"panel_id": 254,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Changed child panels to: Long QT Syndrome; Brugada syndrome; Catecholaminergic Polymorphic Ventricular Tachycardia; Arrhythmogenic Right Ventricular Cardiomyopathy; Atrial Fibrillation; Ventricular Fibrillation; Sick sinus syndrome; Short QT syndrome",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-27T18:15:18.117541+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIA2 were changed from no OMIM number yet to Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM# 618917",
"entity_name": "GRIA2",
"entity_type": "gene"
},
{
"created": "2020-06-27T18:14:34.380106+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31300657; Phenotypes: Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM# 618917; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIA2",
"entity_type": "gene"
},
{
"created": "2020-06-27T18:14:02.328711+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRIA2: Changed phenotypes: Intellectual disability, autism, Rett-like features, epileptic encephalopathy, Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM# 618917",
"entity_name": "GRIA2",
"entity_type": "gene"
},
{
"created": "2020-06-27T18:13:39.500014+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIA2 were changed from Intellectual disability; autism; Rett-like features; epileptic encephalopathy to Intellectual disability; autism; Rett-like features; epileptic encephalopathy; Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM#\t618917",
"entity_name": "GRIA2",
"entity_type": "gene"
},
{
"created": "2020-06-27T18:12:50.763990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIA2 were changed from Intellectual disability; autism; Rett-like features; epileptic encephalopathy to Intellectual disability; autism; Rett-like features; epileptic encephalopathy; Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM#\t618917",
"entity_name": "GRIA2",
"entity_type": "gene"
},
{
"created": "2020-06-27T18:12:22.975473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRIA2: Changed phenotypes: Intellectual disability, autism, Rett-like features, epileptic encephalopathy, Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM# 618917",
"entity_name": "GRIA2",
"entity_type": "gene"
},
{
"created": "2020-06-27T18:11:22.346513+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK19 were changed from Intellectual disability; epileptic encephalopathy to Intellectual disability; epileptic encephalopathy; Epileptic encephalopathy, early infantile, 87, MIM#\t618916",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-06-27T18:10:43.682817+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK19: Changed phenotypes: Intellectual disability, epileptic encephalopathy, Epileptic encephalopathy, early infantile, 87, MIM# 618916",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-06-27T18:10:23.949807+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK19 were changed from Intellectual disability; epileptic encephalopathy to Intellectual disability; epileptic encephalopathy; Epileptic encephalopathy, early infantile, 87, MIM#\t618916",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-06-27T18:09:29.437164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK19 were changed from Intellectual disability; epileptic encephalopathy to Intellectual disability; epileptic encephalopathy; Epileptic encephalopathy, early infantile, 87, MIM#\t618916",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-06-27T18:09:00.880876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK19: Changed phenotypes: Intellectual disability, epileptic encephalopathy, Epileptic encephalopathy, early infantile, 87, MIM# 618916",
"entity_name": "CDK19",
"entity_type": "gene"
},
{
"created": "2020-06-27T18:08:24.782604+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK19: Changed phenotypes: Intellectual disability, epileptic encephalopathy, Epileptic encephalopathy, early infantile, 87, MIM# 618916",
"entity_name": "CDK19",
"entity_type": "gene"
}
]
}