HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1352",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1350",
"results": [
{
"created": "2021-04-14T17:30:21.693293+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIA3 as Green List (high evidence)",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:30:21.682334+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gria3 has been classified as Green List (High Evidence).",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:29:51.328500+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIA3 was added\ngene: GRIA3 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GRIA3 were set to 32977175; 17989220\nPhenotypes for gene: GRIA3 were set to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)\nReview for gene: GRIA3 was set to GREEN\nAdded comment: PMID: 32977175;17989220: Around 20 individuals with ID reported, mostly males inherited from unaffected mother. Missense have been shown to result in either protein expression reduction or minimal or no channel current, only a couple PTC reported. ID ranges from mild to severe, epilepsy has not been reported in all patients (6/19 by PMID: 32977175), and different types of epilepsy were found. \nSources: Expert Review",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:28:13.443943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIA3 as ready",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:28:13.421439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gria3 has been classified as Green List (High Evidence).",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:28:02.474903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIA3 were changed from to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:27:45.919279+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIA3 were set to ",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:27:24.877117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIA3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:27:06.605827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977175, 17989220; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:26:02.416299+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIA3 as ready",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:26:02.406774+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gria3 has been classified as Green List (High Evidence).",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:25:58.474802+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIA3 were changed from to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:25:22.347734+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIA3 were set to ",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:24:56.161185+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIA3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:22:36.504116+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTHL1 as ready",
"entity_name": "NTHL1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:22:36.490114+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nthl1 has been classified as Green List (High Evidence).",
"entity_name": "NTHL1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:22:23.973319+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NTHL1 as Green List (high evidence)",
"entity_name": "NTHL1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:22:23.963906+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nthl1 has been classified as Green List (High Evidence).",
"entity_name": "NTHL1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:21:53.419134+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NTHL1 was added\ngene: NTHL1 was added to Incidentalome. Sources: Literature\nMode of inheritance for gene: NTHL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NTHL1 were set to 33454955\nPhenotypes for gene: NTHL1 were set to NTHL1-associated cancer syndrome\nReview for gene: NTHL1 was set to GREEN\nAdded comment: More than 10 unrelated families reported with a hereditary cancer syndrome predisposing to adenomatous polyposis and colorectal cancer. Half of biallelic carriers also displayed multiple colonic or extra-colonic primary tumors, mainly breast, endometrium, urothelium, and brain tumours. For digestive cancers, average age at diagnosis was 56.2 years. \nSources: Literature",
"entity_name": "NTHL1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:14:56.922592+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3665",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: GRIA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977175, 17989220; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:09:31.750420+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.271",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FAR1 as Green List (high evidence)",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:09:31.739861+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.271",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: far1 has been classified as Green List (High Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:09:07.832234+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FAR1 as Green List (high evidence)",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:09:07.819399+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: far1 has been classified as Green List (High Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:08:39.903264+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.270",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FAR1 was added\ngene: FAR1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAR1 were set to PMID: 33239752\nPhenotypes for gene: FAR1 were set to spastic paraparesis and bilateral cataracts\nReview for gene: FAR1 was set to GREEN\nAdded comment: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production. \nSources: Literature",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:08:31.834108+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FAR1 was added\ngene: FAR1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAR1 were set to PMID: 33239752\nPhenotypes for gene: FAR1 were set to spastic paraparesis and bilateral cataracts\nReview for gene: FAR1 was set to GREEN\nAdded comment: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production. \nSources: Literature",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:00:05.828104+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3665",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MAPKAPK5 as Green List (high evidence)",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T17:00:05.818634+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3665",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mapkapk5 has been classified as Green List (High Evidence).",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:59:38.942763+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3664",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MAPKAPK5 was added\ngene: MAPKAPK5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAPKAPK5 were set to PMID: 3344202\nPhenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic\nReview for gene: MAPKAPK5 was set to GREEN\nAdded comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.\r\n\r\nPatient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization. \nSources: Literature",
"entity_name": "MAPKAPK5",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:53:28.445870+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3663",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UBE4A as Green List (high evidence)",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:53:28.437322+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3663",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ube4a has been classified as Green List (High Evidence).",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:52:44.002028+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3662",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: UBE4A was added\ngene: UBE4A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: UBE4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE4A were set to PMID: 33420346\nPhenotypes for gene: UBE4A were set to Intellectual disability and global developmental delay\nReview for gene: UBE4A was set to GREEN\nAdded comment: 8 individuals, from 4 unrelated families, with syndromic intellectual disability and global developmental delay (other clinical features included hypotonia, short stature, seizures, and behaviour disorder. Exome sequencing identified biallelic loss-of-function variants in UBE4A in the 4 families, with variants segregating with disease and parents carriers. They demonstrated that UBE4A loss-of-function variants reduced RNA expression and protein levels in clinical samples. Mice generated to mimic patient-specific Ube4a loss-of-function variant exhibited muscular and neurological/behavioural abnormalities, some of which are suggestive of the clinical abnormalities seen in the affected individuals. \nSources: Literature",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:45:34.473935+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MED12 as Green List (high evidence)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:45:34.464882+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:45:24.869977+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.107",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33244166; Phenotypes: Hardikar syndrome, OMIM #612726; Mode of inheritance: Other",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:44:10.234749+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.163",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MED12 as Green List (high evidence)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:44:10.225580+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.163",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:43:58.196425+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MED12 as Green List (high evidence)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:43:58.185743+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:43:38.157758+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to Liver Failure_Paediatric. Sources: Literature\nMode of inheritance for gene: MED12 was set to Other\nPublications for gene: MED12 were set to PMID: 33244166\nPhenotypes for gene: MED12 were set to Hardikar syndrome, OMIM #612726\nReview for gene: MED12 was set to GREEN\nAdded comment: 7 female individuals (2 previously reported and 5 unpublished) reported with a clinical diagnosis of Hardikar syndrome (rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation, but normal cognition). \r\n\r\nExome sequencing identified de novo pathogenic nonsense and frameshift variants in MED12 in all 7 individuals. Evidence of extremely skewed XCI in all patients with informative testing. No functional assays. \r\n\r\nNote: pathogenic missense variants in MED12 associated with Opitz-Kaveggia syndrome, Lujan syndrome, Ohdo syndrome, and nonsyndromic intellectual disability, primarily in males \nSources: Literature",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:43:35.436415+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.162",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: MED12 was set to Other\nPublications for gene: MED12 were set to PMID: 33244166\nPhenotypes for gene: MED12 were set to Hardikar syndrome, OMIM #612726\nReview for gene: MED12 was set to GREEN\nAdded comment: 7 female individuals (2 previously reported and 5 unpublished) reported with a clinical diagnosis of Hardikar syndrome (rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation, but normal cognition). \r\n\r\nExome sequencing identified de novo pathogenic nonsense and frameshift variants in MED12 in all 7 individuals. Evidence of extremely skewed XCI in all patients with informative testing. No functional assays. \r\n\r\nNote: pathogenic missense variants in MED12 associated with Opitz-Kaveggia syndrome, Lujan syndrome, Ohdo syndrome, and nonsyndromic intellectual disability, primarily in males \nSources: Literature",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:14:56.880695+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EXOSC1 was added\ngene: EXOSC1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC1 were set to PMID: 33463720\nPhenotypes for gene: EXOSC1 were set to Pontocerebellar hypoplasia\nReview for gene: EXOSC1 was set to RED\nAdded comment: An 8‐months‐old male with developmental delay, microcephaly, subtle dysmorphism, hypotonia, pontocerebellar hypoplasia and delayed myelination. Similarly affected elder sibling succumbed at the age of 4‐years 6‐months. Exome sequencing revealed a homozygous missense variant (c.104C >T, p.Ser35Leu) in EXOSC1. In silico mutagenesis revealed loss of a polar contact with neighbouring Leu37 residue. Quantitative real‐time PCR indicated no appreciable differences in EXOSC1 transcript levels. Immunoblotting and blue native PAGE revealed reduction in the EXOSC1 protein levels and EXO9 complex in the proband, respectively. Of note, bi‐allelic variants in other exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively. \nSources: Literature",
"entity_name": "EXOSC1",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:07:08.227854+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.61",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDIA6 was added\ngene: PDIA6 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature\nMode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDIA6 were set to PMID: 33495992\nPhenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes\nReview for gene: PDIA6 was set to RED\nAdded comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans. \nSources: Literature",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:07:01.977507+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.140",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDIA6 was added\ngene: PDIA6 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature\nMode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDIA6 were set to PMID: 33495992\nPhenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes\nReview for gene: PDIA6 was set to RED\nAdded comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans. \nSources: Literature",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T16:06:43.797666+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDIA6 was added\ngene: PDIA6 was added to Monogenic Diabetes. Sources: Literature\nMode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDIA6 were set to PMID: 33495992\nPhenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes\nReview for gene: PDIA6 was set to RED\nAdded comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans. \nSources: Literature",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-04-14T15:14:31.422545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7172",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - 5 consanguineous families with homozygous frameshift mutations in FAN1\r\n- FAN1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice\r\n- in human retinal pigment epithelium (RPE) cells, FAN1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation; to: - 5 consanguineous families with homozygous frameshift mutations in FAT1\r\n- FAT1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice\r\n- in human retinal pigment epithelium (RPE) cells, FAT1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T15:13:49.336661+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.159",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Four affected individuals who are homozygous or compound heterozgous carriers of a FAN1 variant\r\n- Fibroblasts from a homozygous FAN1 carriers demonstrated loss of FAN1 protein and decreased cell migration rate compared to WT control cells.\r\n- Fat1 knockdown in renal tubular cells reduces migration and results in defective lumen formation. Knockdown of fat1 in zebrafish results in pronephric cysts.; to: - Four affected individuals who are homozygous or compound heterozgous carriers of a FAT1 variant\r\n- Fibroblasts from a homozygous FAT1 carriers demonstrated loss of FAN1 protein and decreased cell migration rate compared to WT control cells.\r\n- Fat1 knockdown in renal tubular cells reduces migration and results in defective lumen formation. Knockdown of fat1 in zebrafish results in pronephric cysts.",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:56:42.600156+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-14T14:52:32.322590+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLB1 as ready",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:52:32.309511+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glb1 has been classified as Green List (High Evidence).",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:52:29.541299+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600; GM1-gangliosidosis, type III, MIM# 230650; Mucopolysaccharidosis type IVB (Morquio), MIM# 253010",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:52:07.351978+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLB1 were set to ",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:51:42.653543+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:51:06.615647+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1907800, 1909089, 17309651, 11511921; Phenotypes: GM1-gangliosidosis, type I, MIM# 230500, GM1-gangliosidosis, type II, MIM# 230600, GM1-gangliosidosis, type III, MIM# 230650, Mucopolysaccharidosis type IVB (Morquio), MIM# 253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:47:05.525589+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SLC17A5.",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:46:55.825502+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC17A5 as ready",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:46:55.813380+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc17a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:46:52.074451+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC17A5 were changed from to Salla disease 604369; MONDO:0011449; Sialic acid storage disorder, infantile 269920; MONDO:0010027",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:46:26.252660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SLC17A5.",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:46:14.185266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC17A5 as ready",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:46:14.175270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc17a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:46:03.536085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC17A5 were changed from to Salla disease 604369; MONDO:0011449; Sialic acid storage disorder, infantile 269920; MONDO:0010027",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:45:44.156165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC17A5 were set to ",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:45:27.695707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:45:23.780717+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC17A5 were set to ",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:44:57.761874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:44:51.169318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC17A5: Added comment: Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form or a slowly progressive adult form, which is prevalent in Finland and referred to as Salla disease. p.Arg39Cys is a founder Finnish variant. Multiple families reported.; Changed publications: 10581036, 10947946; Changed phenotypes: Salla disease 604369, MONDO:0011449, Sialic acid storage disorder, infantile 269920, MONDO:0010027",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:44:25.756258+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:44:01.980751+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581036, 10947946; Phenotypes: Salla disease 604369, MONDO:0011449, Sialic acid storage disorder, infantile 269920, MONDO:0010027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:39:56.061832+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGSH as ready",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:39:56.049885+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Green List (High Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:39:51.668516+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:39:21.634210+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGSH were set to ",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:38:49.982547+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SGSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:38:16.570606+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900, MONDO:0009655; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:37:29.529861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGSH as ready",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:37:29.514741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Green List (High Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:37:20.507334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:37:01.547177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGSH were set to ",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:36:41.334610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SGSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:36:20.319842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900, MONDO:0009655; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:35:20.320829+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGSH as ready",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:35:20.309112+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Green List (High Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:35:13.510577+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:33:57.839506+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGSH were set to ",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:33:34.341926+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SGSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:33:01.051395+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:29:04.486780+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Niemann-Pick disease (NPD) refers to a group of disorders that present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2-3years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings.\r\n\r\nWell established gene-disease association.",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:28:38.802888+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMPD1 as ready",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:28:38.793264+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smpd1 has been classified as Green List (High Evidence).",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:28:33.491050+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:28:07.601450+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMPD1 were set to ",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:27:41.675392+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:27:15.667960+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Niemann-Pick disease (NPD) refers to a group of disorders that present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2-3years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings.\r\n\r\nWell established gene-disease association.",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:26:59.915329+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32292456, 32280632, 28164782; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:24:25.644951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMPD1 as ready",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:24:25.633239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smpd1 has been classified as Green List (High Evidence).",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:24:03.494304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:23:44.241174+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMPD1 were set to ",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2021-04-14T14:23:30.695670+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
}
]
}