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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1493",
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"results": [
{
"created": "2020-11-28T15:51:42.178474+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26754439, 31988067, 26086840, 25893793, 21763480, 24668659; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:44:51.900491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC10A7 as ready",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:44:51.893060+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc10a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:44:43.434419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC10A7 were changed from to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:44:24.087313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC10A7 were set to ",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:44:04.923046+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC10A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:43:46.526171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC10A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30082715, 29878199, 31191616; Phenotypes: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:42:26.234573+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC10A7 as ready",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:42:26.226267+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc10a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:42:22.018648+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC10A7 as Green List (high evidence)",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:42:22.007992+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc10a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:41:51.986030+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC10A7 was added\ngene: SLC10A7 was added to Congenital Disorders of Glycosylation. Sources: Expert list\nMode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC10A7 were set to 30082715; 29878199; 31191616\nPhenotypes for gene: SLC10A7 were set to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363\nReview for gene: SLC10A7 was set to GREEN\nAdded comment: More than 5 unrelated families reported with bi-allelic variants in this gene and skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. Gene product has a putative role in the biosynthesis and trafficking of glycoproteins and glycosaminoglycans (proteoglycans). \nSources: Expert list",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:36:16.316359+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A7 as ready",
"entity_name": "SLC9A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:36:16.300253+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC9A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:36:11.667272+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A7 as Amber List (moderate evidence)",
"entity_name": "SLC9A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:36:11.659860+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC9A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:35:42.507686+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A7 was added\ngene: SLC9A7 was added to Congenital Disorders of Glycosylation. Sources: Expert list\nMode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLC9A7 were set to 30335141\nPhenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108, OMIM #301024\nReview for gene: SLC9A7 was set to AMBER\nAdded comment: 6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect. \nSources: Expert list",
"entity_name": "SLC9A7",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:31:56.204504+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VMA21 as ready",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:31:56.196260+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vma21 has been classified as Green List (High Evidence).",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:31:50.555867+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VMA21 as Green List (high evidence)",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:31:50.547950+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vma21 has been classified as Green List (High Evidence).",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:31:22.558486+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VMA21 was added\ngene: VMA21 was added to Congenital Disorders of Glycosylation. Sources: Expert list\nMode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\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 GREEN\nAdded comment: More than 15 families reported. Note many of the variants are intronic. Gene product participates in the assembly of the V-ATPase. \nSources: Expert list",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:25:33.408580+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGU as ready",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:25:33.396715+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigu has been classified as Green List (High Evidence).",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:25:23.569331+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGU as Green List (high evidence)",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:25:23.561940+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigu has been classified as Green List (High Evidence).",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:24:54.128952+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGU was added\ngene: PIGU was added to Congenital Disorders of Glycosylation. Sources: Expert list\nMode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGU were set to 31353022\nPhenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590\nReview for gene: PIGU was set to GREEN\nAdded comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface. \nSources: Expert list",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:21:18.065446+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGP: Changed publications: 28334793, 31139695, 32042915",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:20:42.551730+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGP were set to 31139695; 32042915",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:20:27.640911+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGP were changed from Epileptic encephalopathy, early infantile, 55, MIM#\t617599 to Developmental and epileptic encephalopathy 55, MIM# 617599",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:19:52.962824+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGP: Changed phenotypes: Developmental and epileptic encephalopathy 55, MIM# 617599",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:19:25.971528+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGP were changed from Epileptic encephalopathy, early infantile, 55, MIM#\t617599 to Developmental and epileptic encephalopathy 55, MIM# 617599",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:18:58.296144+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGP as ready",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:18:58.285077+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigp has been classified as Green List (High Evidence).",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:18:53.486209+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGP as Green List (high evidence)",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:18:53.475049+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigp has been classified as Green List (High Evidence).",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:18:26.418294+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGP was added\ngene: PIGP was added to Congenital Disorders of Glycosylation. Sources: Expert list\nMode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGP were set to 31139695; 32042915\nPhenotypes for gene: PIGP were set to Developmental and epileptic encephalopathy 55, MIM#\t617599\nReview for gene: PIGP was set to GREEN\nAdded comment: Seven individuals from three unrelated families reported. Severe disorder characterised by early-onset seizures, and intellectual disability. \nSources: Expert list",
"entity_name": "PIGP",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:14:27.580030+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGK as ready",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:14:27.569685+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigk has been classified as Green List (High Evidence).",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:14:23.760639+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGK were changed from Intellectual disability; seizures; cerebellar atrophy to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:13:50.076234+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGK: Changed phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:13:30.394571+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGK were changed from Intellectual disability; seizures; cerebellar atrophy to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:12:58.154949+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGK: Changed phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:12:40.736156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGK were changed from Intellectual disability; seizures; cerebellar atrophy to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:12:21.319539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGK: Changed phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:12:04.725784+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGK as ready",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:12:04.712874+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigk has been classified as Green List (High Evidence).",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:11:58.220590+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGK as Green List (high evidence)",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:11:58.213082+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigk has been classified as Green List (High Evidence).",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:11:29.662441+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGK was added\ngene: PIGK was added to Congenital Disorders of Glycosylation. Sources: Expert list\nMode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGK were set to 32220290\nPhenotypes for gene: PIGK were set to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM#\t618879\nReview for gene: PIGK was set to GREEN\nAdded comment: 12 individuals from 9 unrelated families reported. \nSources: Expert list",
"entity_name": "PIGK",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:08:35.908835+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGH as ready",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:08:35.899448+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigh has been classified as Green List (High Evidence).",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:07:56.386150+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGH as ready",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:07:56.376330+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigh has been classified as Green List (High Evidence).",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:07:52.329364+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGH were changed from to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:07:22.083882+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGH were set to ",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:06:51.036992+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:06:21.032297+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573052, 29603516, 33156547; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:05:20.395321+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGH as Green List (high evidence)",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:05:20.388082+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigh has been classified as Green List (High Evidence).",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:04:51.585782+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGH: Added comment: Three further families reported, including two sibs with microcephaly.; Changed rating: GREEN; Changed publications: 29573052, 33156547, 29603516",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:02:44.749479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGH were set to 29573052; 29603516",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:02:19.494265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGH: Added comment: Further three families reported.\r\n\r\nCommon clinical features include developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies.; Changed publications: 29573052, 29603516, 33156547",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:02:00.250917+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGH as Green List (high evidence)",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:02:00.243258+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigh has been classified as Green List (High Evidence).",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T15:01:09.218381+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGH was added\ngene: PIGH was added to Congenital Disorders of Glycosylation. Sources: Expert list\nMode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGH were set to 33156547; 29573052; 29603516\nPhenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010\nReview for gene: PIGH was set to GREEN\nAdded comment: Six unrelated families reported, common clinical features include developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies. \nSources: Expert list",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-11-28T14:56:32.030457+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGB were changed from Epileptic encephalopathy, early infantile, 80; OMIM #618580 to Developmental and epileptic encephalopathy 80, MIM# 618580",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2020-11-28T14:55:57.794100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 80, MIM# 618580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2020-11-28T14:55:34.256629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGB were changed from Epileptic encephalopathy, early infantile, 80; OMIM #618580 to Developmental and epileptic encephalopathy 80, MIM# 618580",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2020-11-28T14:55:09.766928+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGB: Changed phenotypes: Developmental and epileptic encephalopathy 80, MIM# 618580",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2020-11-28T14:54:50.460129+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGB were changed from Epileptic encephalopathy, early infantile, 80; OMIM #618580 to Developmental and epileptic encephalopathy 80, MIM# 618580",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2020-11-28T14:54:14.560811+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGB: Changed phenotypes: Developmental and epileptic encephalopathy 80, MIM# 618580",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2020-11-28T14:53:50.859040+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGB as ready",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2020-11-28T14:53:50.851377+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigb has been classified as Green List (High Evidence).",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2020-11-28T14:53:45.585126+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGB as Green List (high evidence)",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2020-11-28T14:53:45.577552+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigb has been classified as Green List (High Evidence).",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2020-11-28T14:53:16.098629+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGB was added\ngene: PIGB was added to Congenital Disorders of Glycosylation. Sources: Expert list\nMode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGB were set to 31256876\nPhenotypes for gene: PIGB were set to Developmental and epileptic encephalopathy 80\t618580\nReview for gene: PIGB was set to GREEN\nAdded comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects. \nSources: Expert list",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2020-11-28T12:02:22.331372+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPAA1 as ready",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T12:02:22.321295+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpaa1 has been classified as Green List (High Evidence).",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T12:02:19.512638+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T12:01:50.615661+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPAA1 were set to ",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T12:01:22.958540+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T12:00:51.608173+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100095; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:59:28.812717+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPAA1 as ready",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:59:28.801523+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpaa1 has been classified as Green List (High Evidence).",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:59:24.109422+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:58:52.934186+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPAA1 were set to ",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:58:18.445704+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:57:45.396353+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100095; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:56:50.399119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPAA1 as ready",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:56:50.387494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpaa1 has been classified as Green List (High Evidence).",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:56:40.918320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:56:20.724856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPAA1 were set to ",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:56:01.758658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:55:36.661590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:55:29.103972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPAA1: Added comment: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.; Changed publications: 29100095",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:55:19.782999+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPAA1 as ready",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:55:19.770497+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpaa1 has been classified as Green List (High Evidence).",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:55:13.650286+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPAA1 as Green List (high evidence)",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-11-28T11:55:13.640325+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpaa1 has been classified as Green List (High Evidence).",
"entity_name": "GPAA1",
"entity_type": "gene"
}
]
}