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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1720",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1718",
"results": [
{
"created": "2020-07-22T12:43:07.777443+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Green List (High Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:41:40.271518+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPOX as ready",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:41:40.262278+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpox has been classified as Green List (High Evidence).",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:41:35.883812+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPOX as Green List (high evidence)",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:41:35.873386+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpox has been classified as Green List (High Evidence).",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:41:09.356055+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPOX was added\ngene: CPOX was added to Photosensitivity Syndromes. Sources: Expert list\nMode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CPOX were set to 30828546; 28349448; 23582006; 24156084\nPhenotypes for gene: CPOX were set to Coproporphyria 121300; Harderoporphyria 618892\nReview for gene: CPOX was set to GREEN\nAdded comment: PMID: 30828546 - 1 chet patient (missense/inframe deletion) with harderoporphyria and chronic cutaneous photosensitivity.\r\n\r\nPMID: 28349448 - 1 het (PTC) neonatal patient with coproporphyria and skin photosensitivity\r\n\r\nPMID: 23582006 - 1 het (missense) adult patient with photosensitivity and skin fragility. Incomplete penetrance reported.\r\n\r\nPMID: 24156084 - 1 het (PTC) adult patient with coproporphyria \nSources: Expert list",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:38:45.549502+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UROD as ready",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:38:45.540679+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: urod has been classified as Green List (High Evidence).",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:38:39.500824+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UROD as Green List (high evidence)",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:38:39.490878+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: urod has been classified as Green List (High Evidence).",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:37:01.458662+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALAS2 as ready",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:37:01.441567+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alas2 has been classified as Green List (High Evidence).",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:36:55.622279+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALAS2 as Green List (high evidence)",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:36:55.614129+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alas2 has been classified as Green List (High Evidence).",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:36:09.708009+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UROS were set to 8829650",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:35:12.026476+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UROS as ready",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:35:12.017640+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uros has been classified as Green List (High Evidence).",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:35:07.290486+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UROS as Green List (high evidence)",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:35:07.282476+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uros has been classified as Green List (High Evidence).",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:24:14.663785+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.\r\n\r\nOnly one family has been reported (PMID:16980979) with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity. \r\n\r\nThe same authors later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected (PMID: 21039434). They suggest digenic inheritance but found no other variants in 3 candidate genes.\r\n\r\nZebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978).\r\n\r\nThis is the only reference to CDG I can find: Two individuals from the same consanguineous family were found to have biallelic variants in SEC23A and MAN1B1 (PMID: 27148587). Patients presented with carbohydrate-deficient transferrin, tall stature, obesity, macrocephaly, and maloccluded teeth (CLSD individuals present with short stature). Parents were healthy carriers for both variants and an unaffected sibling with tall stature carried the heterozygous variant in SEC23A only. The MAN1B1 variant has been previously associated with CDG and short stature. Normal SEC23A levels were identified for all family members. Pro-COL1A1 secretion was increased in patients and siblings. The authors postulate that the SEC23A variants are contributing to the tall stature in the family due to increased pro-COL1A1 secretion, and that this is a digenic disease, but I'm not very convinced.\r\n\r\nThis gene is not green in any GEL panels. It is on the Invitae CDG panel.\r\n\r\nI don't think there is enough evidence for a gene-disease association let alone association with CDG.; to: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.\r\n\r\nOne family has been reported (PMID:16980979) with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity. \r\n\r\nThe same authors later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected (PMID: 21039434). They suggest digenic inheritance but found no other variants in 3 candidate genes.\r\n\r\nZebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978).\r\n\r\nThis is the only reference to CDG I can find: Two individuals from the same consanguineous family were found to have biallelic variants in SEC23A and MAN1B1 (PMID: 27148587). Patients presented with carbohydrate-deficient transferrin, tall stature, obesity, macrocephaly, and maloccluded teeth (CLSD individuals present with short stature). Parents were healthy carriers for both variants and an unaffected sibling with tall stature carried the heterozygous variant in SEC23A only. The MAN1B1 variant has been previously associated with CDG and short stature. Normal SEC23A levels were identified for all family members. Pro-COL1A1 secretion was increased in patients and siblings. The authors postulate that the SEC23A variants are contributing to the tall stature in the family due to increased pro-COL1A1 secretion, and that this is a digenic disease, but I'm not very convinced.\r\n\r\nThis gene is not green in any GEL panels. It is on the Invitae CDG panel.\r\n\r\nI don't think there is enough evidence for a gene-disease association let alone association with CDG.",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:23:56.689551+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2020-07-22T12:21:22.311680+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.2",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: PPOX was added\ngene: PPOX was added to Photosensitivity Syndromes. Sources: Expert Review\nMode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPOX were set to 12357337; 32247286; 23324528\nPhenotypes for gene: PPOX were set to Porphyria variegata\t(MIM#176200)\nReview for gene: PPOX was set to GREEN\nAdded comment: Photosensitivity is a feature of the condition. \r\n\r\nPMID: 12357337: 7 different variants reported in a cohort of 103 Finnish patients; 40% had photosensitivity. One of the variant, I12T present in gnomad (9 hets) \nSources: Expert Review",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-07-22T11:56:28.789279+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POFUT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23684010, 29452367, 25157627; Phenotypes: Dowling-Degos disease 2 (MIM# 615327); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T11:54:46.590283+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.2",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: RECQL4 was added\ngene: RECQL4 was added to Photosensitivity Syndromes. Sources: Expert Review\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RECQL4 were set to 12838562; 10319867; 20503338; 18716613; 18616953\nPhenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2,\t(MIM#268400)\nReview for gene: RECQL4 was set to GREEN\nAdded comment: Sun sensitivity is a feature of RTS (OMIM). Congenital poikiloderma and photosensitivity is a feature of this phenotype. Biallelic variants reported in >5 RTS patients. \nSources: Expert Review",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2020-07-22T11:22:36.363809+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.2",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: UROD was added\ngene: UROD was added to Photosensitivity Syndromes. Sources: Expert Review\nMode of inheritance for gene: UROD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: UROD were set to 23545314; 30514647\nPhenotypes for gene: UROD were set to Porphyria cutanea tarda; Porphyria, hepatoerythropoietic (MIM#176100)\nReview for gene: UROD was set to GREEN\nAdded comment: Photosensitivity is a feature of the phenotype (OMIM). Heterozygous variants cause Porphyria Cutanea Tarda (Type 1 and 2) and biallelic variants result in hepatoerythropoietic porphyria (HEP) (hematologic and severe photosensitive cutaneous manifestations in infancy or childhood) \nSources: Expert Review",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-07-22T11:15:38.824505+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.2",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ALAS2 was added\ngene: ALAS2 was added to Photosensitivity Syndromes. Sources: Expert list\nMode of inheritance for gene: ALAS2 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: ALAS2 were set to PMID: 25615817\nPhenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked\t300752\nMode of pathogenicity for gene: ALAS2 was set to Other\nReview for gene: ALAS2 was set to GREEN\nAdded comment: PMID: 25615817 - 6 unrelated families (9 patients) with protoporphyria a history of photosensitivity, females had a later onset. Protoporphyria is caused by GOF variants in the C-terminal. Females show variable severity in phenotype. \nSources: Expert list",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-07-22T11:06:31.575507+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.\r\n\r\nSLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.\r\n\r\nFrom GeneReviews: \"Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations.\" (https://www.ncbi.nlm.nih.gov/books/NBK453041/)\r\n\r\nSLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a direct role in glycosylation.\r\n\r\nSLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.\r\n\r\nFrom GeneReviews: \"Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations.\" (https://www.ncbi.nlm.nih.gov/books/NBK453041/)\r\n\r\nSLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T11:06:06.580114+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.\r\n\r\nSLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.\r\n\r\nFrom GeneReviews: \"Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation.\" (https://www.ncbi.nlm.nih.gov/books/NBK1939/)\r\n\r\nSLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.\r\n\r\nSLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.\r\n\r\nFrom GeneReviews: \"Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations.\" (https://www.ncbi.nlm.nih.gov/books/NBK453041/)\r\n\r\nSLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T11:04:19.964370+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.\r\n\r\nSLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.\r\n\r\nFrom GeneReviews: \"Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation.\"(https://www.ncbi.nlm.nih.gov/books/NBK1939/)\r\n\r\nSLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.\r\n\r\nSLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.\r\n\r\nFrom GeneReviews: \"Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation.\" (https://www.ncbi.nlm.nih.gov/books/NBK1939/)\r\n\r\nSLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T11:02:34.471495+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334762, 27512208; Phenotypes: Porphyria, congenital erythropoietic (MIM#263700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-07-22T11:00:57.571005+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.2",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: UROS was added\ngene: UROS was added to Photosensitivity Syndromes. Sources: Expert Review\nMode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UROS were set to 28334762; 27512208\nPhenotypes for gene: UROS were set to Porphyria, congenital erythropoietic (MIM#263700)\nReview for gene: UROS was set to GREEN\nAdded comment: >10 missense variants reported in CEP patients. Photosensitivity is a significant feature of this phenotype. \r\n\r\nPMID: 28334762: Performed in silico and in vitro studies on 29 missense variants previously reported in patients. \nSources: Expert Review",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-07-22T11:00:31.123071+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 11241838; Phenotypes: Skeletal dysplasia (various); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:51:59.907332+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UVSSA as ready",
"entity_name": "UVSSA",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:51:59.890589+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uvssa has been classified as Green List (High Evidence).",
"entity_name": "UVSSA",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:44:49.702614+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:44:38.054079+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: MAGT1: Added comment: PMID: 31036665;\r\n- 3 affecteds (males; 2x CDG and 1x XMEN)\r\n- All 3 patients have an N-glycosylation defect\r\n\r\nPMID: 31714901;\r\n- 23 XMEN patients from 17 families\r\n- glycoproteomic analysis on T cells from 3 patients with XMEN showed defective glycosylation; Changed publications: 31036665, 31714901; Changed phenotypes: Congenital disorder of glycosylation, type Icc (MIM# 301031), Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:41:42.987449+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UVSSA as Green List (high evidence)",
"entity_name": "UVSSA",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:41:42.979453+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uvssa has been classified as Green List (High Evidence).",
"entity_name": "UVSSA",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:41:17.947274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3442",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: UVSSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31421932; Phenotypes: UV-sensitive syndrome 3 (MIM#614640); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UVSSA",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:37:49.229293+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "0.1",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: UVSSA was added\ngene: UVSSA was added to Photosensitivity Syndromes. Sources: Expert Review\nMode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UVSSA were set to 31421932\nPhenotypes for gene: UVSSA were set to UV-sensitive syndrome 3 (MIM#614640)\nReview for gene: UVSSA was set to GREEN\nAdded comment: At least 4 different variants have previously been reported. The condition is characterised by photosensitivity, and hyperpigmentation, freckling, and dryness of sun exposed areas\r\n\r\nPMID: 31421932: Single nonsense variant reported in 2 Pakistani families with UV-sensitive syndrome. Also reviews previously published variants. \nSources: Expert Review",
"entity_name": "UVSSA",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:33:02.346861+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MAGT1 was added\ngene: MAGT1 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MAGT1 were set to PMID: 31036665\nPhenotypes for gene: MAGT1 were set to Congenital disorder of glycosylation, type Icc (MIM# \t301031); Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)\nPenetrance for gene: MAGT1 were set to unknown\nReview for gene: MAGT1 was set to GREEN\nAdded comment: PMID: 31036665;\r\n- 3 affecteds (males; 2x CDG and 1x XMEN)\r\n- All 3 patients have an N-glycosylation defect \nSources: Literature",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:21:10.435251+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Summary: gene-disease association is well-established. Phenotypes are mostly CNS related. Only a minority have abnormal transferrin glycosylation (10/53 reported individuals according to PMID: 30817854).\r\n\r\n3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. \"In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement.\"\r\n\r\n4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.\r\n\r\nPMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.; to: Summary: gene-disease association is well-established. Phenotypes are mostly CNS related (epilepsy, dev delay, etc). Only a minority have abnormal transferrin glycosylation (10/53 reported individuals according to PMID: 30817854).\r\n\r\n3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. \"In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement.\"\r\n\r\n4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.\r\n\r\nPMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:20:23.435206+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. \"In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement.\"\r\n\r\n4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.\r\n\r\nPMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.; to: Summary: gene-disease association is well-established. Phenotypes are mostly CNS related. Only a minority have abnormal transferrin glycosylation (10/53 reported individuals according to PMID: 30817854).\r\n\r\n3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. \"In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement.\"\r\n\r\n4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.\r\n\r\nPMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:17:23.795324+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561849, 24115232, 27743886, 25778940, 30817854; Phenotypes: Congenital disorder of glycosylation, type IIm (MIM #300896); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2020-07-22T10:11:33.265844+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24035193, 28574218; Phenotypes: Alacrima, achalasia, and mental retardation syndrome (MIM# 615510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2020-07-22T09:38:06.387733+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DSE: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23704329; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:31:26.782722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM92A as ready",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:31:26.772494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam92a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:31:19.470674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM92A as Amber List (moderate evidence)",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:31:19.457367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam92a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:31:04.113535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM92A was added\ngene: FAM92A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FAM92A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM92A were set to 30395363\nPhenotypes for gene: FAM92A were set to Polydactyly, postaxial, type A9, MIM#\t618219\nReview for gene: FAM92A was set to AMBER\nAdded comment: Single family and a mouse model reported. \nSources: Expert list",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:29:42.044381+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM92A as ready",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:29:42.037186+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam92a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:29:37.655094+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM92A as Amber List (moderate evidence)",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:29:37.645566+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam92a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:29:15.539361+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM92A was added\ngene: FAM92A was added to Polydactyly. Sources: Expert list\nMode of inheritance for gene: FAM92A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM92A were set to 30395363\nPhenotypes for gene: FAM92A were set to Polydactyly, postaxial, type A9, MIM#\t618219\nReview for gene: FAM92A was set to AMBER\nAdded comment: Single family and a mouse model reported. \nSources: Expert list",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:25:08.845921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0825 as ready",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:25:08.838797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0825 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:25:01.497225+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0825 as Green List (high evidence)",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:25:01.487044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0825 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:24:44.607818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA0825 was added\ngene: KIAA0825 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0825 were set to 32147526; 30982135\nPhenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, MIM#\t618498\nReview for gene: KIAA0825 was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Literature",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:23:32.352052+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0825 as ready",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:23:32.345768+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0825 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:23:28.442120+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0825 as Green List (high evidence)",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:23:28.432600+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0825 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:23:05.996306+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA0825 was added\ngene: KIAA0825 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0825 were set to 32147526; 30982135\nPhenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, MIM#\t618498\nReview for gene: KIAA0825 was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Literature",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:19:45.123992+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:18:04.126709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF141 as ready",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:18:04.117033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf141 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:17:58.429006+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF141 were changed from to Polydactyly, postaxial, type A6, MIM# 615226",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:17:40.950765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF141 were set to ",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:17:26.068709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF141 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:17:11.482983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF141 as Red List (low evidence)",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:17:11.472943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf141 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:16:54.725959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF141: Rating: RED; Mode of pathogenicity: None; Publications: 23160277; Phenotypes: Polydactyly, postaxial, type A6, MIM# 615226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:15:41.189888+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF141 as ready",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:15:41.183065+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf141 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:15:38.176259+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF141 were set to ",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:15:21.050911+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF141 were changed from to Polydactyly, postaxial, type A6, MIM# 615226",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:14:54.445270+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF141 as Red List (low evidence)",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:14:54.438934+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf141 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:14:32.011661+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF141: Rating: RED; Mode of pathogenicity: None; Publications: 23160277; Phenotypes: Polydactyly, postaxial, type A6, MIM# 615226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:10:08.898972+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF141 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF141",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:09:38.651025+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WNT7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:08:42.849219+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:08:08.494948+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:07:37.037922+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:07:03.354527+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:06:33.850732+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDPCP as ready",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:06:33.842090+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Green List (High Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:06:24.022591+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:05:48.310479+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked 99, syndromic, female-restricted, MIM# 300968; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:05:18.581044+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP9X as ready",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:05:18.573519+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp9x has been classified as Green List (High Evidence).",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:05:14.560023+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP9X were changed from to Mental retardation, X-linked 99, syndromic, female-restricted, MIM#\t300968",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-07-22T07:00:15.915472+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USP9X was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-07-22T06:58:59.720139+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2020-07-22T06:58:19.738873+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TWIST1 as ready",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2020-07-22T06:58:19.731292+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twist1 has been classified as Green List (High Evidence).",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2020-07-22T06:58:14.597761+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TWIST1 were changed from to Robinow-Sorauf syndrome, MIM# 180750",
"entity_name": "TWIST1",
"entity_type": "gene"
}
]
}