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[
{
"created": "2024-05-02T13:25:39.177662Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: LETM1.\nTag Q3_23_MOI was removed from gene: LETM1.",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:25:25.354358Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_MOI was removed from gene: EPHA2.",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:25:01.162225Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:25:01.143731Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: EPHA2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:24:52.869240Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to LETM1.\nSource Expert Review Green was added to LETM1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:24:52.749179Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to EPHA2.\nMode of inheritance for gene EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2024-04-15T16:04:29.815481Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on mode of inheritance: The MOI should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update. At least 9 unrelated multigenerational families have been identified with congenital cataracts due to a recurrent heterozygous LIM2 p.R130C variant (PMIDs: 32202185; 33078099; 33708862; 33923544; 35736209). These families come from different ancestries (British, Chinese, Spanish, Japanese) and haplotype analysis in families from shared ancestries has suggested the variant likely arose due to independent founder events in each family. The evidence therefore supports this MOI being included in future analyses.; to: Comment on mode of inheritance: The MOI should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update. At least 9 unrelated multigenerational families have been identified with cataracts due to a recurrent heterozygous LIM2 p.R130C variant (PMIDs: 32202185; 33078099; 33708862; 33923544; 35736209). These families come from different ancestries (British, Chinese, Spanish, Japanese) and haplotype analysis in families from shared ancestries has suggested the variant likely arose due to independent founder events in each family. The evidence therefore supports this MOI being included in future analyses.",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2024-04-15T16:04:08.131583Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on mode of inheritance: The MOI should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update. At least 9 unrelated multigenerational families have been identified with congenital cataracts due to a recurrent LIM2 p.R130C variant (PMIDs: 32202185; 33078099; 33708862; 33923544; 35736209). These families come from different ancestries (British, Chinese, Spanish, Japanese) and haplotype analysis in families from shared ancestries has suggested the variant likely arose due to independent founder events in each family. The evidence therefore supports this MOI being included in future analyses.; to: Comment on mode of inheritance: The MOI should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update. At least 9 unrelated multigenerational families have been identified with congenital cataracts due to a recurrent heterozygous LIM2 p.R130C variant (PMIDs: 32202185; 33078099; 33708862; 33923544; 35736209). These families come from different ancestries (British, Chinese, Spanish, Japanese) and haplotype analysis in families from shared ancestries has suggested the variant likely arose due to independent founder events in each family. The evidence therefore supports this MOI being included in future analyses.",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2024-04-15T16:03:19.462494Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag recurrent-variant tag was added to gene: LIM2.\nTag Q2_24_MOI tag was added to gene: LIM2.",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2024-04-15T16:03:04.810217Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on mode of inheritance: The MOI should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update. At least 9 unrelated multigenerational families have been identified with congenital cataracts due to a recurrent LIM2 p.R130C variant. These families come from different ancestries (British, Chinese, Spanish, Japanese) and haplotype analysis in families from shared ancestries has suggested the variant likely arose due to independent founder events in each family. The evidence therefore supports this MOI being included in future analyses.; to: Comment on mode of inheritance: The MOI should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update. At least 9 unrelated multigenerational families have been identified with congenital cataracts due to a recurrent LIM2 p.R130C variant (PMIDs: 32202185; 33078099; 33708862; 33923544; 35736209). These families come from different ancestries (British, Chinese, Spanish, Japanese) and haplotype analysis in families from shared ancestries has suggested the variant likely arose due to independent founder events in each family. The evidence therefore supports this MOI being included in future analyses.",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2024-04-15T16:01:59.699848Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: The MOI should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update. At least 9 unrelated multigenerational families have been identified with congenital cataracts due to a recurrent LIM2 p.R130C variant. These families come from different ancestries (British, Chinese, Spanish, Japanese) and haplotype analysis in families from shared ancestries has suggested the variant likely arose due to independent founder events in each family. The evidence therefore supports this MOI being included in future analyses.",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2024-04-15T16:01:59.669111Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2024-04-15T15:49:17.633828Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: LIM2 were set to Ponnam et al (2008) Mol Vis 14:1204-1208; Pras et al (2002) Am J Hum genet 70:1363-7",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2024-04-15T15:47:24.118714Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: LIM2 were changed from Cortical Pulverulent Cataract; Cataract 19, 615277 to Cataract 19, multiple types, OMIM:615277",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2024-03-26T14:52:10.104417Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson syndrome, 268400; RAPADILINO syndrome, 266280; Baller-Gerold syndrome, 218600; Rothmund-Thomson syndrome to Rothmund-Thomson syndrome, type 2, OMIM:268400",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2023-10-19T16:50:06.312628Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_23_MOI tag was added to gene: EPHA2.",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-19T16:49:32.870365Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: PMID: 35918037 highlights that both monoallelic and biallelic EPHA2 variants are responsible for the phenotypes reported in table 1, therefore, the mode of inheritance for EPHA2 should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review.",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-19T16:49:32.837415Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-19T16:17:42.472257Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: EPHA2 were changed from Age-Related Cortical Cataract; Cataract 6, multiple types, 116600 to Cataract 6, multiple types, OMIM:116600",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-19T16:17:09.183986Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: EPHA2 were set to ",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-08-22T15:29:58.335736Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH1 were changed from BASAL CELL NEVUS SYNDROME to Basal cell nevus syndrome 1, OMIM:109400",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-08-08T10:37:07.160941Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_23_NHS_review was removed from gene: LETM1.",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2023-08-08T10:22:34.580903Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Possible mitochondrial disorder - nuclear genes v3.42",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2023-08-08T10:22:34.520934Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: LETM1 was added\ngene: LETM1 was added to Bilateral congenital or childhood onset cataracts. Sources: Expert Review,Expert Review Amber\nQ3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1.\nMode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LETM1 were set to 36055214; 33815143\nPhenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2023-03-22T16:02:45.924121Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 4.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T16:02:08.602861Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "4.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 4.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T13:02:13.389884Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "List of related panels changed from Cataracts; Bilateral congenital or childhood onset cataracts; R31 to Cataracts; R31",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T12:23:46.806858Z",
"panel_name": "Bilateral congenital or childhood onset cataracts",
"panel_id": 230,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel name changed from Cataracts to Bilateral congenital or childhood onset cataracts\nList of related panels changed from R31; Bilateral congenital or childhood onset cataracts to Cataracts; Bilateral congenital or childhood onset cataracts; R31",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-07T14:48:19.127644Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: CDK9.",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2023-01-30T11:03:46.669520Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: CDK9.\nTag Q3_22_MOI was removed from gene: CDK9.",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2023-01-30T11:00:22.017531Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: CDK9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2023-01-30T10:59:30.734771Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to CDK9.\nSource NHS GMS was added to CDK9.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:53:46.293568Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "3.1",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:53:04.704504Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "3.0",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-21T15:13:59.776725Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.111",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: FAM126A",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-11-21T15:13:51.294100Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.111",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: FAM126A.",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2022-09-15T12:36:14.569463Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.111",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1716",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2022-09-15T12:36:14.531232Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.111",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: CDK9 was added\ngene: CDK9 was added to Cataracts. Sources: Literature,Expert Review Amber\nQ3_22_rating, Q3_22_MOI tags were added to gene: CDK9.\nMode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK9 were set to 26633546; 30237576; 29302074; 33640901\nPhenotypes for gene: CDK9 were set to Global developmental delay; Intellectual disability; Abnormality of vision; Congenital cataract; Iris coloboma; Abnormal heart morphology; Choanal atresia; Abnormality of the ear; Preauricular skin tag; Hearing impairment; Abnormality of the genitourinary system; Abnormality of limbs; Abnormality of the vertebrae; Abnormality of nervous system morphology; Seizures\nPenetrance for gene: CDK9 were set to Complete",
"entity_name": "CDK9",
"entity_type": "gene"
},
{
"created": "2022-08-03T15:20:12.092048Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: COL11A1: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2022-06-30T16:09:10.010678Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.109",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-06-30T15:33:18.137168Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.109",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: KIAA1109.",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-06-30T15:32:13.467101Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.109",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: KIAA1109",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-06-30T13:05:15.862837Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.109",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag gene-checked was removed from gene: ZNF526.",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2022-06-30T12:58:48.627597Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.109",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2022-05-07T20:15:12.103639Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.108",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: ZNF526.",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2022-05-03T14:53:58.837751Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.108",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CYP51A1 were set to 22935719; 25148791",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T14:51:41.191332Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.107",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: CYP51A1.",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T14:50:35.883846Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.107",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CYP51A1 were set to Aldahmesh (2012) Genet Med 14(12):955-962 - novel missense variant was reported to segregate with a cataract phenotype in a Saudi Arabian family. Gillespie et al (2014) Ophthlamol 121:2124-2137 (article not available for full text access).",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2022-04-12T13:58:32.981564Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.106",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: COL18A1 were changed from Knobloch syndrome; high myopia; cataracts; vitreoretinal degeneration; retinal detachment to Knobloch syndrome, type 1, OMIM:267750",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2022-04-12T13:55:48.270211Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.105",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: COL18A1 were set to Aldahmesh et al (2011) J Genet Med 48(9):597-601; Williams et al (2008) Ophthal Genet 29:85-86; Suzuki et al (2002) Am J Hum Genet 71:1320-1329",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T14:26:29.045347Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.104",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger); Confirmed DD gene for ZELLWEGER SYNDROME; Peroxisome biogenesis disorder to Heimler syndrome 2, OMIM:616617",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T14:25:57.768113Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.103",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PEX6 were set to ",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T14:25:36.803888Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.102",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: PEX6: Rating: ; Mode of pathogenicity: None; Publications: 26387595; Phenotypes: Heimler syndrome 2 OMIM:616617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-03-09T11:31:45.622381Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.102",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: COL11A1",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2022-03-09T11:31:36.928407Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.101",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:36:34.806079Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: FAR1.",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:36:29.788502Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: MED27.",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:36:16.534873Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MED27",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:36:16.519867Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: FAR1",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:36:12.274550Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.99",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to MED27.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:36:12.179871Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.99",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to FAR1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:22:31.325722Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PLOD3.",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:21:33.315651Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CTDP1.",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:21:23.355244Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:21:07.441973Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: EED.",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:20:38.711348Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: GEMIN4.",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:19:57.272276Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ZNF526.",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:19:41.404119Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: SREBF1.",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:19:30.291218Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: SLC16A12.",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:18:44.830072Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PIK3C2A.",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:18:34.298002Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: GFER.",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:18:15.397114Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ABHD12.",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:16:04.039803Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: POLG.",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:15:28.838152Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: NACC1.",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:15:11.571879Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: INTS1.",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:14:34.613971Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: COG4.",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:14:11.516529Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ANAPC1.",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:13:48.992244Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: NUP188.",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:11:15.891526Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ATAD3A.",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:10:52.224619Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: VPS4A.",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.322303Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CTDP1: Submitted on behalf of NHS GMS \"Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.\"",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.309899Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ANAPC1: Submitted on behalf of NHS GMS \"Please note that there is a common deep intronic variant.\"",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.297966Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CTDP1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.286896Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: EED: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.275714Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: GEMIN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.264113Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ZNF526",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.248457Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: SREBF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.234985Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: SLC16A12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.222299Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PIK3C2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.208635Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: GFER: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.195532Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ABHD12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.177810Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: POLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.166126Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PLOD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.153855Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: NACC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.140276Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: INTS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.127734Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: COG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.114428Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ANAPC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Please note that there is a common deep intronic variant",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.103615Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: NUP188",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.084675Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ATAD3A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:10.072057Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: VPS4A",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:02.237635Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Red was added to EED.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:02.144836Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to GEMIN4.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:02.045243Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ZNF526.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:01.954087Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to SREBF1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:01.871212Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC16A12.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:01.787058Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to PIK3C2A.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:01.700847Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to GFER.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:01.618921Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ABHD12.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:01.536204Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to POLG.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:01.454229Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to PLOD3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:01.374143Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to NACC1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:01.291025Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to INTS1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:01.212981Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to COG4.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:00.932775Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ANAPC1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:00.854575Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to NUP188.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:00.774338Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ATAD3A.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:09:00.683460Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to VPS4A.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2022-03-01T15:09:57.673403Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.96",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: HSF4 were set to ",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2022-03-01T14:58:32.403545Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.95",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: HSF4 were changed from Cataracts; Cataract 5, multiple types, 116800; CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE to Cataract 5, multiple types, OMIM:116800",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:10:18.405760Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.94",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: TCF4 as Red List (low evidence)",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:10:18.395366Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.94",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Single case of paediatric cateracts",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:10:18.376212Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.94",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: tcf4 has been classified as Red List (Low Evidence).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:09:50.769907Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.93",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Variants in TCF4 are associated with Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267, however, this condition does not include cataracts, which associated with TCF4 trinucleotide repeat (RCV000186552.6) in https://doi.org/10.3390/genes12121918.",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:09:50.758101Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.93",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: TCF4 were changed from Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267 to paediatric cataracts",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:04:59.412796Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.92",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:59:52.251787Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.91",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: TCF4: Added comment: In https://doi.org/10.3390/genes12121918 (no PMID number available as of 9th December 2021) the authors report TCF4 trinucleotide repeat (RCV000186552.6) in a case Kearns-Sayre Syndrome and corneal endothelial failure and paediatric cataracts.; Changed rating: AMBER; Changed publications to: https://doi.org/10.3390/genes12121918; Changed phenotypes to: paediatric cataracts",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:50:37.001826Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.91",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Corneal dystrophies v1.8",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:50:36.938107Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.91",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: TCF4 was added\ngene: TCF4 was added to Cataracts. Sources: Expert Review Green,Expert list\nSTR tags were added to gene: TCF4.\nMode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321\nPhenotypes for gene: TCF4 were set to Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-11-29T13:45:04.921100Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.90",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome; Warburg micro syndrome 2; Warburg Micro syndrome-2 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-11-11T09:49:57.538194Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.89",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLS were changed from ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685 to ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:25:53.471687Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.88",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CRYBB3 were changed from Congenital Nuclear Cataract; Cataract 22, autosomal recessive, 609741 to Cataract 22, OMIM:609741",
"entity_name": "CRYBB3",
"entity_type": "gene"
},
{
"created": "2021-10-27T11:19:00.144466Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.87",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, 2, 608810; Posterior Polar Cataract to Cataract 16, multiple types, OMIM:613763; Myopathy, myofibrillar, 2, OMIM:608810",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2021-10-26T10:15:24.791240Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.86",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A1 were changed from Marshall Syndrome; Stickler syndrome to Marshall Syndrome, OMIM:154780; Stickler syndrome, type II, OMIM:604841",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-10-06T15:31:23.830216Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.85",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Intellectual disability v3.1331",
"entity_name": "UBE2U",
"entity_type": "gene"
},
{
"created": "2021-10-06T15:31:23.788695Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.85",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: UBE2U was added\ngene: UBE2U was added to Cataracts. Sources: Expert Review Red,Literature\nMode of inheritance for gene: UBE2U was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBE2U were set to 33776059\nPhenotypes for gene: UBE2U were set to Retinoschisis, MONDO:0004579; cataracts; learning disability, MONDO:0004681; developmental delay",
"entity_name": "UBE2U",
"entity_type": "gene"
},
{
"created": "2021-09-14T09:26:31.360813Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.84",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: PGRMC1.",
"entity_name": "PGRMC1",
"entity_type": "gene"
},
{
"created": "2021-09-14T09:26:19.192556Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.84",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PGRMC1 were changed from Isolated paediatric cataract to Isolated paediatric cataract; cataract, MONDO:0005129",
"entity_name": "PGRMC1",
"entity_type": "gene"
},
{
"created": "2021-09-14T09:24:44.699159Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.83",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PGRMC1 as Amber List (moderate evidence)",
"entity_name": "PGRMC1",
"entity_type": "gene"
},
{
"created": "2021-09-14T09:24:44.695738Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.83",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is not associated with a phenotype in OMIM or Gene2Phenotype. As there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.",
"entity_name": "PGRMC1",
"entity_type": "gene"
},
{
"created": "2021-09-14T09:24:44.660850Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.83",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pgrmc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PGRMC1",
"entity_type": "gene"
},
{
"created": "2021-09-13T08:06:52.398256Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGRMC1 was added\ngene: PGRMC1 was added to Cataracts. Sources: Literature\nMode of inheritance for gene: PGRMC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PGRMC1 were set to 33867527; 23783460\nPhenotypes for gene: PGRMC1 were set to Isolated paediatric cataract\nReview for gene: PGRMC1 was set to AMBER\nAdded comment: A single large family with X-linked isolated paediatric cataract in males segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated male probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5. \nSources: Literature",
"entity_name": "PGRMC1",
"entity_type": "gene"
},
{
"created": "2021-09-09T10:32:56.236789Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.82",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: FOXE3 were set to Iseri et al (2009) Hum Mutat 30:1378-1386; Semina et al (2001) Hum Mol Genet 10:231-236; Br mond-Gignac et al (2010) Mol Vis 16:1705-1711.",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2021-09-09T10:31:36.848686Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.81",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE3 were changed from Autosomal dominant cataracts; Peter's anomaly, microphthalmia. to Cataract 34, multiple types, OMIM:612968; cataract 34 multiple types, MONDO:0013067; Peter's anomaly; microphthalmia.",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2021-09-09T10:12:45.743481Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.80",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Review of mode of inheritance confirms that there are both biallelic and monoallelic cases with FOXE3 variants where cataracts are reported. See full review of MOI on the Structural eye disease panel https://panelapp.genomicsengland.co.uk/panels/509/gene/FOXE3/",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2021-09-09T10:12:45.717764Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.80",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXE3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2021-09-07T14:19:57.445587Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.79",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PEX7 were changed from Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease; Peroxisome biogenesis disorder to Peroxisome biogenesis disorder 9B, OMIM:614879; Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2021-08-31T14:35:56.534457Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GJA1 were changed from Oculodentodigital Dysplasia to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-08-05T15:02:56.246626Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.77",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from R31 to R31; Bilateral congenital or childhood onset cataracts\nPanel version 2.76 has been signed off on 2021-08-05",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-07-14T12:05:26.164784Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.76",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH18A1 were changed from Autosomal dominant cutis laxa-3 (ADCL3); autosomal recessive cutis laxa type III (ARCL3) to Cutis laxa, autosomal dominant 3 OMIM:616603; cutis laxa, autosomal dominant 3 MONDO:0014706; Cutis laxa, autosomal recessive, type IIIA OMIM:219150; ALDH18A1-related de Barsy syndrome MONDO:0009053; Spastic paraplegia 9A, autosomal dominant OMIM:601162; hereditary spastic paraplegia 9A MONDO:0011006; Spastic paraplegia 9B, autosomal recessive OMIM:616586; autosomal recessive complex spastic paraplegia type 9B MONDO:0014702",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:24:06.493058Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, 617183 to Harel-Yoon syndrome, OMIM:617183",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2021-06-28T11:18:05.463208Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype. \r\n\r\nBoth biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Congenital/juvenile cataracts are reported in 4/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and in 12/12 patients with heterozygous de novo variants (PMID: 33239752) \r\nSources: Literature; to: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype. \r\n\r\nBoth biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Congenital/juvenile cataracts are reported in 4/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and in 12/12 patients with heterozygous de novo variants affecting the Arg480 residue (PMID: 33239752) \r\nSources: Literature",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-05-04T17:01:16.557959Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.74",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: OCRL were changed from Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME to Lowe syndrome, OMIM:309000; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-05-04T17:00:54.585493Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.73",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: OCRL were set to ",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-05-04T17:00:38.488631Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.72",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: ; Mode of inheritance: None",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2021-05-04T13:43:15.063056Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype. \r\n\r\nBoth biallelic and monoallelic variants have been linked to disease. Congenital/juvenile cataracts are reported in 4/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and in 12/12 patients with heterozygous de novo variants (PMID: 33239752) \nSources: Literature; to: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype. \r\n\r\nBoth biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Congenital/juvenile cataracts are reported in 4/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and in 12/12 patients with heterozygous de novo variants (PMID: 33239752) \r\nSources: Literature",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-05-04T13:34:00.144432Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FAR1 as Amber List (moderate evidence)",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-05-04T13:34:00.138461Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-05-04T13:34:00.112373Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: far1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-05-04T13:33:22.894936Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: FAR1 was added\ngene: FAR1 was added to Cataracts. Sources: Literature\nQ2_21_rating tags were added to gene: FAR1.\nMode of inheritance for gene: FAR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FAR1 were set to 25439727; 30561787; 33239752\nPhenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154\nReview for gene: FAR1 was set to GREEN\nAdded comment: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype. \r\n\r\nBoth biallelic and monoallelic variants have been linked to disease. Congenital/juvenile cataracts are reported in 4/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and in 12/12 patients with heterozygous de novo variants (PMID: 33239752) \nSources: Literature",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-04-30T08:55:46.161171Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COPB1 as Amber List (moderate evidence)",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-30T08:55:46.154942Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-30T08:55:38.438628Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: COPB1 was added\ngene: COPB1 was added to Cataracts. Sources: Literature\nMode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPB1 were set to 33632302\nPhenotypes for gene: COPB1 were set to Baralle-Macken syndrome, OMIM:619255; Severe intellectual disability; Cataracts; Variable microcephaly\nReview for gene: COPB1 was set to AMBER\nAdded comment: COPB1 is associated with a relevant phenotype in OMIM (MIM# 619255) and has a 'possible' disease confidence rating for 'COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly' in Gene2Phenotype.\r\n\r\n- PMID: 33632302 (2021) - six individuals from two unrelated families with different homozygous variants in this gene. All affected patients developed cataracts, among other features such as severe ID and variable microcephaly. Some supportive functional data. \r\n\r\nRating Amber, awaiting further cases. \nSources: Literature",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-06T15:15:42.307271Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MED27 as Amber List (moderate evidence)",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-06T15:15:42.300241Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: med27 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-06T15:15:31.015443Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: MED27 was added\ngene: MED27 was added to Cataracts. Sources: Literature\nQ2_21_rating tags were added to gene: MED27.\nMode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED27 were set to 33443317\nPhenotypes for gene: MED27 were set to Intellectual disability; Axial hypotonia; Spasticity; Dystonia; Cerebellar hypoplasia; Cataracts; Epilepsy\nReview for gene: MED27 was set to GREEN\nAdded comment: MED27 is currently not associated with any phenotype in OMIM (last edited on 08/03/2012), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'MED27-related neurodevelopmental disorder'\r\n\r\n- PMID: 33443317 (2021) - 16 individuals from 11 families with a neurodevelopmental syndrome characterised by mild to profound GDD/ID (14/14), axial hypotonia (14/15), distal spasticity and dystonic movements (13/15), cerebellar hypoplasia (12/14), epilepsy (9/15), and microcephaly (4/14). Cataracts were present in 10/15 patients, with four reporting mature cataracts, and 2 sibs had posterior cataracts. Exome sequencing revealed biallelic variants in the MED27 gene, including 3 recurrent variants found in 2 or more families with different background.\r\n\r\nOverall sufficient (>3) unrelated cases with cataracts in patients in MED27 variants for inclusion on this panel as diagnostic-grade (Green). \nSources: Literature",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:12:32.872015Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.66",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: COL6A3 as Red List (low evidence)",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:12:32.859096Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.66",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene has been given a Red rating as this phenotype is not appropriate for this panel.\r\n\r\nThis gene has been added to the Structural eye disease panel (panel ID: 509).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:12:32.791262Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.66",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Red List (Low Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2021-03-17T16:46:55.609551Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.65",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: NSUN2 as Red List (low evidence)",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-03-17T16:46:55.606542Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.65",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given a Red rating.",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-03-17T16:46:55.582490Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.65",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: nsun2 has been classified as Red List (Low Evidence).",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-03-17T16:45:48.817124Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.64",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NSUN2 were changed from Mental retardation, autosomal recessive 5, MIM# 611091; cataracts to Mental retardation, autosomal recessive 5, OMIM:611091; cataracts",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-03-16T11:48:52.290932Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.63",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: DYRK1A were set to 28053047; 25944381",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:29:17.545379Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' as only one biallelic case reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:29:17.533314Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:23:27.924541Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: VPS4A as Amber List (moderate evidence)",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:23:27.921843Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: At least 5 different variants reported in 10 unrelated individuals with a comparable phenotype, including congenital/early-onset cataracts in 6/10 cases. Pathogenicity is supported by functional data.\r\n\r\nThere are sufficient cases to promote this gene to Green at the next GMS panel update (added 'for-review' tag)",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:23:27.906226Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: vps4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-02-03T11:20:13.003579Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: VPS4A was added\ngene: VPS4A was added to Cataracts. Sources: Expert Review\nfor-review tags were added to gene: VPS4A.\nMode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VPS4A were set to 33186545; 33186543; 33460484\nPhenotypes for gene: VPS4A were set to CIMDAG syndrome\nReview for gene: VPS4A was set to GREEN\nAdded comment: Gene currently not associated with any phenotype in OMIM (last edited: 20/12/2019) or Gene2Phenotype.\r\n\r\n- PMID: 33186545 (2020) - Six unrelated individuals with de novo missense variants (c.850A>T, c.850A>G, c.616G>A) affecting the ATPase domain of VPS4A. Clinical features include severe DD and profound ID (6/6), hypotonia (5/6), microcephaly (6/6), dystonia (5/6), congenital cataracts (4/5), epilepsy (3/6), anaemia (3/6 - dyserythropoietic in 2), and structural brain abnormalities including cerebellar hypoplasia (5/6) or severe cerebral atrophy (1/6). Some functional data indicating a dominant-negative effect.\r\n\r\n- PMID: 33186543 (2020) - Three unrelated individuals with congenital dyserythropoietic anaemia, severe neurodevelopmental delay, and dystonia. Two patients harboured different de novo variants (c.850A>T, c.608G>A) in the ATPase domain, while the third had a homozygous alteration (c.83C>T) occurring in the N-terminal microtubule interacting and trafficking domain of VPS4A. The first two individuals congenital microcephaly with brain MRI showing white matter and cerebral volume loss, thin corpus callosum, and ponto-cerebellar atrophy. One individual also displayed a seizure disorder and congenital cataracts. The case with the biallelic variant presented with a milder hematologic phenotype and had macrocephaly (rather than microcephaly) and delayed white matter myelination. Functional studies support pathogenicity.\r\n\r\n- PMID: 33460484 (2021) - One child with a a severe neurodevelopmental disorder and congenital haemolytic anaemia but no overt sign of dyserythropoiesis, associated with a de novo variant (c.850A>T) in VPS4A. Other features include microcephaly (-2.5 SD), choreodystonic movements, and bilateral cataract. Brain MRI showed cerebral atrophy, thin dysplastic corpus callosum, basal ganglia atrophy, brainstem hypoplasia, cerebellar hypoplasia and dysplasia \nSources: Expert Review",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-02-01T10:36:54.613890Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSUN2 was added\ngene: NSUN2 was added to Cataracts. Sources: Literature\nMode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSUN2 were set to 33084202\nPhenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, MIM# 611091; cataracts\nReview for gene: NSUN2 was set to RED\nAdded comment: Two siblings compound het for two variants c.546_547insCT, p.Met183Leufs*13; c.1583del, p.Pro528Hisfs*19 and juvenile cataracts \nSources: Literature",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-01-29T15:25:14.509099Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-01-21T11:18:57.800688Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.58",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: SLC16A12.",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2021-01-20T10:29:04.274365Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.58",
"user_name": "Nicola Ragge",
"item_type": "entity",
"text": "reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 32021605, 32275884; Phenotypes: Sandestig-Stefanove Syndrome, AR, MIM:618804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2021-01-19T11:51:23.285852Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GLS were changed from ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339 to ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:50:38.802378Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ZNF526 as Amber List (moderate evidence)",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:50:38.798327Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added for-review' tag). \r\n\r\nAt least 5 individuals from 4 unrelated families all presenting bilateral ocular cataracts, among other features (PMID: 33397746)",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:50:38.774374Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: znf526 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:47:57.426604Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ZNF526 was added\ngene: ZNF526 was added to Cataracts. Sources: Literature\nfor-review tags were added to gene: ZNF526.\nMode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF526 were set to 33397746\nPhenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia\nReview for gene: ZNF526 was set to GREEN\nAdded comment: Currently not associated with any phenotype in OMIM (last updated on 09/12/2011), but has a 'possible' disease confidence rating for 'Autosomal Recessive Mental Retardation' in Gene2Phenotype.\r\n\r\n- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum \nSources: Literature",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-07T08:48:54.166957Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL6A3 was added\ngene: COL6A3 was added to Cataracts. Sources: Literature\nMode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL6A3 were set to 33304895\nPhenotypes for gene: COL6A3 were set to Peters anomaly\nReview for gene: COL6A3 was set to AMBER\nAdded comment: Not sure if this is the right panel for Peters anomaly.\r\n\r\nVariants in this gene are associated with neurological phenotypes (myopathy, dystonia). Two families reported with bi-allelic missense variants in this gene and Peters anomaly, limited functional data. \nSources: Literature",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-12-23T17:33:56.995417Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: SMG8 as Amber List (moderate evidence)",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-23T17:33:56.990162Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Amber as although number of unrelated cases reaches threshold for inclusion (3), the phenotype is not fully penetrant and the disorder is better represented by other panels (e.g. ID, microcephaly etc). This may however we revised if further cases arise.",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-23T17:33:56.960721Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: smg8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-23T17:27:56.453591Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: SMG8 was added\ngene: SMG8 was added to Cataracts. Sources: Literature\nMode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMG8 were set to 31130284; 33242396\nPhenotypes for gene: SMG8 were set to Intellectual disability; Microcephaly; Short stature; Facial dysmorphism; Cataract\nReview for gene: SMG8 was set to AMBER\nAdded comment: Currently not associated with any phenotype in OMIM or G2P.\r\n-----\r\n- PMID: 31130284 (2019) - One individual with cataract and a homozygous variant in this gene identified as part of a large candidate gene discovery study. Other features include microcephaly, ID, and neck hyperpigmentation. No further details were provided. \r\n\r\n- PMID: 33242396 (2020) - Different biallelic variants in the SMG8 gene identified in 4 consanguineous families, of which 2 kindreds had 3 individuals with cataract. Authors reported congenital bilateral cataract in the two sibs, while the third patient had cataract operated at age 12yrs although the age of onset or any further information was not available. Other clinical features include GDD/ID, dysmorphic features, microcephaly, short stature, brain imaging anomalies and congenital heart disease. Some supportive functional data also provided. \nSources: Literature",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-21T10:29:00.360513Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CTDP1 as Amber List (moderate evidence)",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-12-21T10:29:00.355960Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the new review, this gene has been promoted to Amber and tagged with \"for-review\" for the next round of GMS panel reviews so the new rating can be considered.",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-12-21T10:29:00.305168Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ctdp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-12-21T10:27:43.259476Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.51",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CTDP1.",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-12-21T09:01:34.077187Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.51",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: PMID: 30290151 suggests that Saul-Wilson syndrome variant is gain of function.",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-12-21T09:01:34.055384Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.51",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: COG4 was changed from None to Other",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-12-21T08:59:20.680010Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: COG4.",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-12-21T08:59:15.848976Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: COG4 as Amber List (moderate evidence)",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-12-21T08:59:15.843644Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-12-21T08:59:15.799455Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cog4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-12-16T16:24:45.320861Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.49",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag founder-effect tag was added to gene: CTDP1.",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-12-16T16:18:39.737241Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.49",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CTDP1 were set to 14517542; 24690360; 14517542",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-12-16T16:16:26.463717Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CTDP1 were changed from Congenital cataracts, facial dysmorphism, and neuropathy, 604168 to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-12-16T16:15:58.552298Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CTDP1 were set to ",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-12-16T16:14:29.858332Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: POLG.",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-12-16T16:14:19.435520Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: POLG as Amber List (moderate evidence)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-12-16T16:14:19.429932Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with the relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence for this gene to be Green; however, the inclusion of this gene to the panel should be reviewed by the GMS specialist group.",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-12-16T16:14:19.382894Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: polg has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:32:43.074030Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ABHD12 as Amber List (moderate evidence)",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:32:43.066498Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association; however, the GMS specialist group should review whether this gene should be included in the panel.",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:32:43.025513Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: abhd12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:31:36.922424Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ABHD12.",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:20:58.375061Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ABHD12 were set to ",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:20:45.674779Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.43",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD12 were changed from Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674; PHARC syndrome, MONDO:0012984",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:17:29.096091Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PLOD3 as Amber List (moderate evidence)",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:17:29.091950Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence for a gene-disease association. Therefore, this gene should be Green at the next review.",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:17:29.060077Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:16:40.662860Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PLOD3.",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:00:02.410418Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SLC16A12 as Amber List (moderate evidence)",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:00:02.404350Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-12-16T14:00:02.376138Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: slc16a12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-12-16T13:45:14.346575Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: This was originally in the Publications section:\r\nKloeckener-Gruissem et al (2008) Am J Hum Genet 82:772-779 - a nonsense variant in SLC16A12 was identified in a Swiss family with autosomal dominant juvenile cataract, microcornea, and renal glucosuria. High SLC16A12 transcript expression levels in the eye and kidney was observed (PMID: 18304496);\r\nFunctional study: Castorino et al (2011) IOVS 52:6774 PMID: 21778275 - reports the variant causes a defect in protein trafficking;\r\nA 5'UTR SNP was identified in one patient with age-related cataract, and caused increased expression in luciferase assays PMID: 20181839",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-12-16T13:45:14.305784Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SLC16A12 were set to Kloeckener-Gruissem et al (2008) Am J Hum Genet 82:772-779 - a nonsense variant in SLC16A12 was identified in a Swiss family with autosomal dominant juvenile cataract, microcornea, and renal glucosuria. High SLC16A12 transcript expression levels in the eye and kidney was observed; Functional study: Castorino et al (2011) IOVS 52:6774 PMID: 21778275 - reports the variant causes a defect in protein trafficking; A 5'UTR SNP was identified in one patient with age-related cataract, and caused increased expression in luciferase assays PMID: 20181839",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-12-16T13:20:42.525740Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A12 were changed from Cataract, juvenile, with microcornea and glucosuria, 612018 to Cataract 47, juvenile, with microcornea, OMIM:612018; juvenile cataract-microcornea-renal glucosuria syndrome, MONDO:0012786",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-12-16T11:47:53.481154Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: COG4 were changed from Saul-Wilson syndrome, OMIM #618150 to Saul-Wilson syndrome, OMIM:618150; microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-12-16T11:43:51.659345Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: EED: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2020-12-16T11:38:27.480575Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: EED.",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2020-12-16T11:30:40.478470Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: EED were changed from Cohen-Gibson syndrome\t617561 to Cohen-Gibson syndrome, OMIM:617561,MONDO:0060510",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2020-12-16T11:17:29.048903Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: GFER as Amber List (moderate evidence)",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-12-16T11:17:29.043435Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to promote this gene from Red to Green. This gene should be made Green at the next review.",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-12-16T11:17:29.002698Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: gfer has been classified as Amber List (Moderate Evidence).",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-12-16T11:16:20.474025Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GFER were changed from Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, OMIM:613076 to Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-12-16T11:14:42.347106Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: GFER.",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-12-15T15:21:05.203508Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GFER were changed from Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, OMIM:613076",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-12-15T14:28:49.906138Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: GFER were set to Di Fonzo et al (2009) Am J Hum Genet 84:594-604",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-12-15T14:26:41.965378Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: GEMIN4.",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-12-15T14:26:28.549403Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: GEMIN4 were set to 27878435; 25558065",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-12-15T14:26:10.663072Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: GEMIN4: Added comment: On re-reviewing this gene, the mouse model was not a knockout gene model of GEMIN4. PMID: 30237576 is a new publication that describes another case with the same variant as that reported by PMID: 25558065. The affected individual is from the same region as the previous publication. Therefore, there is insufficient evidence to support a gene-disease status and this gene should be downgraded from Green to Amber at the next review.; Changed rating: AMBER; Changed publications: 30237576",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-12-15T14:22:55.525417Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: GEMIN4.",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-12-11T15:36:06.599380Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ANAPC1 as Amber List (moderate evidence)",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T15:36:06.579626Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at next review.",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T15:36:06.524803Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: anapc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T15:34:55.718967Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ANAPC1.",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T15:24:53.175727Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ANAPC1 were changed from Rothmund Thomson syndrome type 1, OMIM 618625 to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T15:00:13.015998Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: INTS1 as Amber List (moderate evidence)",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T15:00:13.012436Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review.",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T15:00:12.984312Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ints1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:57:13.672999Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: INTS1.",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:42:59.475698Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: INTS1 were changed from Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:38:03.569446Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PIK3C2A.",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:37:58.685156Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PIK3C2A as Amber List (moderate evidence)",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:37:58.679610Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber. This gene should be Green at the next review.",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:37:58.651767Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:37:39.951930Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3C2A were changed from Oculoskeletodental syndrome, 618440 to Oculoskeletodental syndrome, OMIM:618440, MONDO:0034145",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:35:27.210867Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PANK4 as Amber List (moderate evidence)",
"entity_name": "PANK4",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:35:27.205450Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in Gene2Phenotype but not OMIM. There is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.",
"entity_name": "PANK4",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:35:27.166187Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pank4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PANK4",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:34:35.144685Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: PANK4.",
"entity_name": "PANK4",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:22:23.601913Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: NACC1 as Amber List (moderate evidence)",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:22:23.594238Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:22:23.546003Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: nacc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:21:45.751379Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: NACC1.",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:16:12.934080Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NACC1 were changed from Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, OMIM:617393, MONDO:0044306 to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, OMIM:617393, MONDO:0044306",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:15:46.630452Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NACC1 were changed from Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393) to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, OMIM:617393, MONDO:0044306",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:07:20.068680Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SREBF1 as Amber List (moderate evidence)",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:07:20.065209Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:07:20.035971Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: srebf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-12-11T14:06:28.264481Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: SREBF1.",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:27:07.345233Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SREBF1 were changed from Mucoepithelial dysplasia, hereditary, MIM#158310 to Mucoepithelial dysplasia, hereditary, OMIM:158310, MONDO:0008017",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:24:16.415133Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PSMC3 as Amber List (moderate evidence)",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:24:16.405381Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is not enough evidence to support a gene-disease association; therefore, this gene has been given an Amber rating.",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:24:16.358326Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-11-30T09:58:44.487786Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: RNPC3 was added\ngene: RNPC3 was added to Cataracts. Sources: Expert Review,Literature\nMode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNPC3 were set to 24480542; 29866761; 32462814\nPhenotypes for gene: RNPC3 were set to isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160; congenital cataracts\nReview for gene: RNPC3 was set to RED\nAdded comment: This gene is an Amber gene on the Growth failure in early childhood panel (v1.16). The following reviews are present for this gene on that panel:\r\n\r\n\"Comment on list classification: Based on the available evidence and expert review, this gene has been promoted from Red to Amber. This gene is associated with a relevant phenotype on OMIM. The family described in PMIDs 24480542 and 29866761 are the same. The 3 sisters in this family had GH deficiency only. PMID: 32462814 had GH deficiency and almost undetectable levels of prolactin as well.\r\nIvone Leong (Genomics England Curator), 15 Oct 2020\r\n\r\nTwo families reported. PMID 29866761: isolated growth deficiency and pituitary hypoplasia. PMID 32462814: growth hormone deficiency, central congenital hypothyroidism, congenital cataract, developmental delay/intellectual deficiency and delayed puberty. Full spectrum of phenotype unclear at present.\r\nZornitza Stark (Australian Genomics), 5 Oct 2020\"\r\n\r\nAs only 1 affected family has congenital cataracts, this gene is given a Red rating. \nSources: Expert Review, Literature",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2020-11-02T09:45:12.019010Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SREBF1 was added\ngene: SREBF1 was added to Cataracts. Sources: Literature\nMode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SREBF1 were set to 32497488; 31790666; 32902915\nPhenotypes for gene: SREBF1 were set to Mucoepithelial dysplasia, hereditary, MIM#158310\nReview for gene: SREBF1 was set to GREEN\nAdded comment: HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses.\r\n\r\nNeeds to be added to skin panels, in addition to the already described IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016 phenotype. \nSources: Literature",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-07T13:07:39.590845Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: GALM.",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-10-07T13:07:33.188633Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: GALM as Amber List (moderate evidence)",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-10-07T13:07:33.184361Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. Based on the available evidence there is currently not enough evidence to support a gene-disease assocation; therefore, this gene has been given an Amber rating.",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-10-07T13:07:33.154221Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: galm has been classified as Amber List (Moderate Evidence).",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-10-07T13:06:03.787068Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GALM were changed from type IV galactosaemia to Galactosemia IV, 618881",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:17:23.560980Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract; structural brain abnormalities; hypoventilation to Sandestig-Stefanova syndrome, 618804",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:17:12.437503Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: NUP188 as Amber List (moderate evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:17:12.432852Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next major review - congenital cataract reported in at least 6 affected individuals (5 unrelated kindreds) due to biallelic truncating variants in NUP188.",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:17:12.411552Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:13:46.864829Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: NUP188.",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-29T10:12:46.773669Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: 32021605, 32275884; Phenotypes: Sandestig-Stefanova syndrome, 618804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-09-07T20:38:18.575250Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMC3 was added\ngene: PSMC3 was added to Cataracts. Sources: Literature\nMode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMC3 were set to 32500975\nPhenotypes for gene: PSMC3 were set to Deafness; cataract\nReview for gene: PSMC3 was set to AMBER\nAdded comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Gene-disease association is supported by an animal model. \nSources: Literature",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-09-03T11:46:05.567840Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TDRD7: Rating: ; Mode of pathogenicity: None; Publications: 32420594; Phenotypes: Congenital cataracts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-08-27T16:05:47.511951Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: TKFC.",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-08-27T16:05:38.560480Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TKFC were changed from Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, 618805",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-08-27T16:04:45.202370Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TKFC as Amber List (moderate evidence)",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-08-27T16:04:45.188272Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Additional cases required before inclusion on a diagnostic panel (added to watchlist).",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-08-27T16:04:45.137592Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tkfc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-08-27T16:00:38.210341Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TKFC: Rating: AMBER; Mode of pathogenicity: None; Publications: 32004446; Phenotypes: Triokinase and FMN cyclase deficiency syndrome, 618805; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:22:50.640498Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ATAD3A as Amber List (moderate evidence)",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:22:50.626220Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: atad3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:22:40.670580Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ATAD3A was added\ngene: ATAD3A was added to Cataracts. Sources: Literature\nfor-review tags were added to gene: ATAD3A.\nMode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATAD3A were set to 27640307; 28652416; 28158749; 31727539\nPhenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, 617183\nReview for gene: ATAD3A was set to AMBER\nAdded comment: Added new gene as Amber for now, but should be promoted to Green (as there is enough evidence for it to be a Green gene) at the next major review. \r\n\r\nPMID: 27640307 describes 5 patients from 5 unrelated families with the same de novo variant (c.1582 C>T, R528W). 3/5 patients have optic atrophy and 2/5 have hypertrophic cardiomyopathy (HCM). The authors have suggested that R528W exerts a dominant negative effect.\r\n\r\nThree patients from 2 additional families have biallelic variants (1 compound heterozygous and 1 biallelic deletion of ATAD3B and ATAD3A). These 3 patients did not have optic atrophy nor HCM, but had congenital cataracts.\r\n\r\nPMID: 31727539 describes a consanguineous family with 4 affected individuals with biallelic variant (c.1217T>G, L406R). 3/4 had congenital cataracts and 4/4 had HCM. No one had optic atrophy. \nSources: Literature",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-08-19T15:06:17.540467Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Rating Red, as cataracts (congenital) only reported in a single family with two affects sibs - additional cases required to ascertain the contribution of PISD variants to this phenotype.; to: Comment on list classification: Rating Red, as cataracts (congenital) only reported in a single family with two affected sibs - additional cases required to ascertain the contribution of PISD variants to this phenotype.",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2020-08-19T14:01:36.488685Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: PISD were set to 31263216; 30858161",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2020-08-19T14:01:22.892989Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PISD were changed from Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities to Liberfarb syndrome, 618889",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2020-08-19T14:00:52.065810Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PISD as Red List (low evidence)",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2020-08-19T14:00:52.061886Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Red, as cataracts (congenital) only reported in a single family with two affects sibs - additional cases required to ascertain the contribution of PISD variants to this phenotype.",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2020-08-19T14:00:52.039516Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: pisd has been classified as Red List (Low Evidence).",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2020-08-19T13:57:47.607357Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: PISD: Changed publications: 31263216, 30858161, 30488656, 3561949",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2020-08-19T13:57:35.772308Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: PMID: 31263216 (2019) - In two sets of brothers from unrelated consanguineous families, sequencing revealed homozygosity for a 10-bp deletion (c.904-12_904-3delCTATCACCAC) in the PISD gene. The patients presented with Liberfarb syndrome, characterised by early-onset retinal degeneration, skeletal dysplasia, short stature, developmental delay, microcephaly, and hearing loss. There was a concern for bilateral cataracts in one patient (patient 3), but a formal ophthalmological evaluation could not be performed. Authors noted phenotypic overlap with another previously described case (PMID: 3561949 (1986)), prompting follow-up investigation using paraffin-embedded tissue which yielded an identical homozygous variant. Haplotype analysis indicated a founder effect between all five individuals. \r\n\r\nPMID: 30858161 (2019) - Two sisters with progressive short stature, skeletal dysplasia, white matter abnormalities, congenital cataracts, sensorineural hearing loss, and mild global developmental delay, associated with compound heterozygous variants (c.830G>A and c.697+5G>A) in the PISD gene. \r\n\r\nPMID: 30488656 (2019) - Two unrelated individuals with an 'unclassifiable' form of spondyloepimetaphyseal dysplasia, as well as short stature, microcephaly, mild facial dysmorphism. Vision, hearing, and psychomotor development were reported to be normal for both patients. WES identified the same homozygous missense variant (c.797G>A) in PISD in both patients. Analysis revealed a common haplotype, which indicated remote consanguinity. Supporting functional data using patient-derived fibroblasts.; to: Associated with Liberfarb syndrome in OMIM, but not in G2P. \r\n\r\nPMID: 31263216 (2019) - In two sets of brothers from unrelated consanguineous families, sequencing revealed homozygosity for a 10-bp deletion (c.904-12_904-3delCTATCACCAC) in the PISD gene. The patients presented with Liberfarb syndrome, characterised by early-onset retinal degeneration, skeletal dysplasia, short stature, developmental delay, microcephaly, and hearing loss. There was a concern for bilateral cataracts in one patient (patient 3), but a formal ophthalmological evaluation could not be performed. Authors noted phenotypic overlap with another previously described case (PMID: 3561949 (1986)), prompting follow-up investigation using paraffin-embedded tissue which yielded an identical homozygous variant. Haplotype analysis indicated a founder effect between all five individuals. \r\n\r\nPMID: 30858161 (2019) - Two sisters with progressive short stature, skeletal dysplasia, white matter abnormalities, congenital cataracts, sensorineural hearing loss, and mild global developmental delay, associated with compound heterozygous variants (c.830G>A and c.697+5G>A) in the PISD gene. \r\n\r\nPMID: 30488656 (2019) - Two unrelated individuals with an 'unclassifiable' form of spondyloepimetaphyseal dysplasia, as well as short stature, microcephaly, mild facial dysmorphism. Vision, hearing, and psychomotor development were reported to be normal for both patients. WES identified the same homozygous missense variant (c.797G>A) in PISD in both patients. Analysis revealed a common haplotype, which indicated remote consanguinity. Supporting functional data using patient-derived fibroblasts.",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2020-08-19T13:56:48.244917Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PISD: Rating: ; Mode of pathogenicity: None; Publications: 31263216, 30858161, 30488656; Phenotypes: Liberfarb syndrome, 618889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:44:35.498439Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: MAFIP.",
"entity_name": "MAFIP",
"entity_type": "gene"
},
{
"created": "2020-07-08T13:44:25.412351Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: MAFIP",
"entity_name": "MAFIP",
"entity_type": "gene"
},
{
"created": "2020-07-08T08:12:50.062693Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NACC1 was added\ngene: NACC1 was added to Cataracts. Sources: Expert list\nMode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NACC1 were set to 28132692\nPhenotypes for gene: NACC1 were set to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393)\nReview for gene: NACC1 was set to GREEN\ngene: NACC1 was marked as current diagnostic\nAdded comment: 7 unrelated individuals with recurrent de novo heterozygous missense variant c.892C>T p.(Arg298Trp). 5 out of 7 had bilateral cataracts. \nSources: Expert list",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-07-08T08:10:41.488395Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP188 was added\ngene: NUP188 was added to Cataracts. Sources: Expert list\nMode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP188 were set to 32021605; 28726809; 32275884\nPhenotypes for gene: NUP188 were set to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation\nReview for gene: NUP188 was set to GREEN\ngene: NUP188 was marked as current diagnostic\nAdded comment: 8 unrelated individuals reported with bi-allelic variants and a neurodevelopmental phenotype with cataracts. \nSources: Expert list",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-07-08T08:07:36.892044Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PANK4 was added\ngene: PANK4 was added to Cataracts. Sources: Expert list\nMode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PANK4 were set to 30585370\nPhenotypes for gene: PANK4 were set to Congenital posterior cataract\nReview for gene: PANK4 was set to AMBER\nAdded comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model. \nSources: Expert list",
"entity_name": "PANK4",
"entity_type": "gene"
},
{
"created": "2020-07-08T08:05:22.350051Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3C2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31034465; Phenotypes: Oculoskeletodental syndrome, MIM# 618440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-07-08T07:57:30.499861Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PISD was added\ngene: PISD was added to Cataracts. Sources: Expert list\nMode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PISD were set to 31263216; 30858161\nPhenotypes for gene: PISD were set to Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities\nReview for gene: PISD was set to GREEN\ngene: PISD was marked as current diagnostic\nAdded comment: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.\r\n\r\n1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity. \nSources: Expert list",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2020-07-08T07:54:57.421573Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INTS1 was added\ngene: INTS1 was added to Cataracts. Sources: Expert list\nMode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS1 were set to 28542170; 30622326; 31428919\nPhenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571\nReview for gene: INTS1 was set to GREEN\ngene: INTS1 was marked as current diagnostic\nAdded comment: At least 6 unrelated families reported; cataract is a consistent feature, onset in infancy/early childhood. \nSources: Expert list",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-07-08T07:48:46.041167Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALM was added\ngene: GALM was added to Cataracts. Sources: Expert list\nMode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALM were set to 30451973; 30910422\nPhenotypes for gene: GALM were set to type IV galactosaemia\nReview for gene: GALM was set to AMBER\nAdded comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)\r\n\r\nNote only two of the reported individuals had cataracts. \nSources: Expert list",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2020-07-08T07:45:59.607514Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANAPC1 was added\ngene: ANAPC1 was added to Cataracts. Sources: Expert list\nMode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANAPC1 were set to 31303264\nPhenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625\nReview for gene: ANAPC1 was set to GREEN\ngene: ANAPC1 was marked as current diagnostic\nAdded comment: Rothmund-Thomson syndrome type 1 is associated with juvenile cataracts. Ajeawung et al (PMID 31303264) described 10 individuals from 7 unrelated families with biallelic ANAPC1 variants, whom all had bilateral juvenile cataracts. \nSources: Expert list",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2020-07-08T07:42:36.323515Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GEMIN4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25558065, 27878435; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2020-07-08T07:39:36.873453Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409522, 25269795, 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-07-07T09:48:21.182994Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EED: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen-Gibson syndrome, MIM# 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2020-07-07T09:42:35.127486Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Although it is a founder variant, the number of families reported is large and the population is not geographically restricted, i.e. is present in the UK.; to: Although it is a founder variant, the number of families reported is large and the population is not geographically restricted, i.e. is present in the UK. The gene is Green on the neuropathy and ID panels.",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T09:41:36.667824Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 14517542, 24690360; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-07-07T09:34:02.904668Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG4 was added\ngene: COG4 was added to Cataracts. Sources: Expert list\nMode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COG4 were set to 31949312; 30290151\nPhenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150\nReview for gene: COG4 was set to GREEN\ngene: COG4 was marked as current diagnostic\nAdded comment: Saul-Wilson syndrome (AD): 14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like)\r\nAll have a recurrent de novo heterozygous missense variant (p.Gly516Arg). Please note bi-allelic variants cause CDG. \nSources: Expert list",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-07-07T05:41:13.606410Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32077159, 29571850, 28448692, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-07-07T03:21:44.388378Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD3 was added\ngene: PLOD3 was added to Cataracts. Sources: Expert list\nMode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLOD3 were set to 18834968; 30463024; 31129566\nPhenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency, MIM#612394\nReview for gene: PLOD3 was set to GREEN\ngene: PLOD3 was marked as current diagnostic\nAdded comment: Complex phenotype that includes cataracts in 3/5 described unrelated families. \nSources: Expert list",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-07-07T03:17:50.948840Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLG: Set current diagnostic: yes",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-07-07T03:17:39.716503Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Cataracts. Sources: Expert list\nMode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: POLG were set to 20301791; 29358615; 22405928\nPhenotypes for gene: POLG were set to POLG-related disorders\nReview for gene: POLG was set to GREEN\nAdded comment: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants. Cataracts have been described as congenital/preceding other clinical manifestations. \nSources: Expert list",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-07-07T03:01:20.301123Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC16A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 29088427; Phenotypes: Cataract 47, juvenile, with microcornea, MIM# 612018; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-07-07T02:52:03.930651Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TKFC was added\ngene: TKFC was added to Cataracts. Sources: Expert list\nMode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TKFC were set to 32004446\nPhenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction\nReview for gene: TKFC was set to AMBER\nAdded comment: Two unrelated individuals reported. \nSources: Expert list",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-07-02T17:59:52.520346Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Pediatric posterior lenticonus cataract and global developmental delay",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-02T17:59:52.501186Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: RIC1 were changed from Pediatric posterior lenticonus cataract and global developmental delay to CATIFA syndrome 618761",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-02T17:59:03.488738Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: RIC1 were set to 27878435",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-02T17:58:39.412817Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: RIC1 as Amber List (moderate evidence)",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-02T17:58:39.407807Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least one variant reported in numerous members of two families, who shared an autozygous interval, confirming Founder effect (PMID 27878435). Segregation was demonstrated, together with supportive functional and zebra fish model (PMID 31932796).",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-02T17:58:39.363204Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.4",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: ric1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-02T17:58:28.689135Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: RIC1.",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-06-23T13:22:29.159837Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: CAPN15.",
"entity_name": "CAPN15",
"entity_type": "gene"
},
{
"created": "2020-06-23T13:22:17.011755Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: CAPN15",
"entity_name": "CAPN15",
"entity_type": "gene"
},
{
"created": "2020-02-19T16:33:32.132675Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-11T10:47:20.738406Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.1",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: PIK3C2A: Changed rating: GREEN",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2019-11-11T10:46:32.812386Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.1",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: PIK3C2A is associated with a relevant phenotype on OMIM but not on Gene2Phenotype. PMID: 31034465 describes 3 unrelated consanguineous families (Muslim-Arab Isreali, Tunisian and Syrian) with different homozygous variants in this gene. All affected members have similar features, which included \"dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts\". Therefore, this gene is appropriate for this panel and there is enough evidence for this gene to be promoted to Green status. \nSources: Literature; to: PIK3C2A is associated with a relevant phenotype on OMIM but not on Gene2Phenotype. PMID: 31034465 describes 3 unrelated consanguineous families (Muslim-Arab Isreali, Tunisian and Syrian) with different homozygous variants in this gene. All affected members have similar features, which included \"dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts\". Therefore, this gene is appropriate for this panel and there is enough evidence for this gene to be promoted to Green status. \r\nSources: Literature",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2019-11-11T10:46:00.914756Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.1",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PIK3C2A was added\ngene: PIK3C2A was added to Cataracts. Sources: Literature\nMode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3C2A were set to 31034465\nPhenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, 618440\nReview for gene: PIK3C2A was set to RED\nAdded comment: PIK3C2A is associated with a relevant phenotype on OMIM but not on Gene2Phenotype. PMID: 31034465 describes 3 unrelated consanguineous families (Muslim-Arab Isreali, Tunisian and Syrian) with different homozygous variants in this gene. All affected members have similar features, which included \"dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts\". Therefore, this gene is appropriate for this panel and there is enough evidence for this gene to be promoted to Green status. \nSources: Literature",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2019-10-02T14:52:22.753342Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.0",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-02T14:49:30.395770Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-02T13:56:07.842195Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: KIAA1109 as Red List (low evidence)",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2019-10-02T13:56:07.837072Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Red. KIAA1109 is associated with Alkuraya-Kucinskas syndrome and cataracts are a minor feature. As we are not aware of any cases of variants in this gene associated with isolated cataracts, it has been demoted to Red.",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2019-10-02T13:56:07.812856Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: kiaa1109 has been classified as Red List (Low Evidence).",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2019-10-02T13:50:42.875208Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: LONP1 as Green List (high evidence)",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2019-10-02T13:50:42.870229Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Green based on previous review.",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2019-10-02T13:50:42.843764Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: lonp1 has been classified as Green List (High Evidence).",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2019-10-02T13:50:35.090940Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: GEMIN4 as Green List (high evidence)",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2019-10-02T13:50:35.087920Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Green based on previous review.",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2019-10-02T13:50:35.060635Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: gemin4 has been classified as Green List (High Evidence).",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2019-09-06T10:00:18.648827Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: EIF2B2 as Green List (high evidence)",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2019-09-06T10:00:18.642328Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2019-08-29T08:26:53.650547Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag founder-effect tag was added to gene: RIC1.",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:54:12.342127Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: TAPT1 is associated with a phenotype on OMIM and Gene2Phenotype; however this phenotype is not associated with any eye phenotype. It is a green gene on the Fetal anomalies panel (code 478, version 0.339) PMID: 27878435 reported a consanguineous family with a splice site variant that caused a frameshift mutation. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects. Therefore, there is currently not enough evidence for this gene to be promoted to green status.; to: TAPT1 is associated with a phenotype on OMIM and Gene2Phenotype; however this phenotype is not associated with the eyes. It is a green gene on the Fetal anomalies panel (code 478, version 0.339). PMID: 27878435 reported a consanguineous family with a splice site variant that caused a frameshift mutation. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects. Therefore, there is currently not enough evidence for this gene to be promoted to green status.",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:49:04.013178Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71). There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.; to: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71). \r\nThere are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:45:28.700842Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; to: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants in this gene. There is enough evidence for this gene to be green.",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:45:10.240696Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; to: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.565857Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: RIC1: Rating: RED; Mode of pathogenicity: ; Publications: 27878435; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.552331Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27878435, 25808063, 26622071, 28148925, 29408517, 25574826; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.539747Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TAF1A: Rating: RED; Mode of pathogenicity: ; Publications: 27878435; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TAF1A",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.526268Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27878435; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.513554Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25558065, 27878435; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.499735Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: DYRK1A: Added comment: DYRK1A is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the ID (code: 285, version 2.1015), Fetal anomalies panel (code: 478, version 0.339), Severe microcephaly (code: 162, version 1.72) and GES (code: 402, version 1.256). PMID: 28053047 analysed approx 4,200 family trios from the DDD study and found 19 patients who have likely pathogenic de novo variants in DYRK1A. All patients have ID and 14 have some sort of eye malformation. However, only 1 of the 14 have bilateral cataracts (missense DYRK1A variant). PMID: 25944381 investigated 14 unrelated individuals with de novo variants in DYRK1A (microdeletions, small indels or SNVs). All individuals have congenital microcephaly at birth, intellectual disability, developmental delay, severe speech impairment, short stature, and distinct facial features. Only 1 patient had cataracts (21q22.13-q22.2 deletion, this region encompasses 30 genes one of which is DYRK1A). Therefore, not enough evidence to be green and rated amber until further evidence is available.; Changed rating: AMBER; Changed publications: 28053047, 25944381",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.488372Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: KIAA1109: Added comment: KIAA1109 is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the Structural eye disease panel (code: 509, version 0.84), ID (code: 285, version 2.1015), Fetal anomalies panel (code: 478, version 0.339) and GES (code: 402, version 1.256). PMID: 29290337 reported on 10 unrelated families who have Alkuraya-Ku?inskas syndrome with biallelic variants in KIAA1109. 2 of 10 families (Chinese and Algerian) with affected members also having congenital cataracts. The same paper also produced a zebrafish model but there was no mention of any eye defects. PMID: 30906834 reported on a non-consanguineous African American family where two siblings had congenital neurological malformation disorder that variably presents with arthrogryposis, craniofacial and/or cardiac abnormalities. The two siblings also had congenital cataracts and were compound heterozygous for variants in this gene. There is enough evidence for this gene to be green on this panel.; Changed publications: 29290337, 30906834",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.476716Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: AP4B1: Added comment: AP4B1 is associated with an unrelated phenotype on OMIM and Gene2Phenotype. There is only 1 case (PMID: 29430868) so currently there is not enough evidence to promote this gene to green status.; Changed rating: RED; Changed publications: 29430868",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.465195Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: XYLT2: Added comment: XYLT2 is associated with a phenotype on OMIM and probably associated with a phenotype on Gene2Phenotype. There are >3 unrelated cases of patients with Spondyloocular Syndrome who have cataracts who have different variants in the XYLT2 gene. Therfore, there is enough evidence for this gene to be green.; Changed publications: 26027496, 26987875, 28884924, 30496831, 29136277",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.453042Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: GLS: Added comment: GLS is associated with a phenotype on OMIM but not on Gene2Phenotype. There is only one published case (PMID: 30239721) who had infantile cataracts who had a heterozygote variant in this gene. The same paper also created a zebrafish model of this variant and it caused cataracts in the fish. However, until more evidence is available this gene will be rated amber.; Changed rating: AMBER; Changed publications: 30239721",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.441680Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: GTF2H5: Added comment: GTF2H5 is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (code: 77, version 1.8). There are 3 unrelated cases (PMID: 24986372; 15220921) of patients with Trichothiodystrophy 3, photosensitive who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.; Changed publications: 24986372, 15220921",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.429840Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: EIF2B2: Added comment: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71). There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.; Changed publications: 21484434, 14566705, 28041799",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.417710Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: DNMBP: Added comment: DNMBP is associated with a phenotype on OMIM but not on Gene2Phenotype. PMID: 30290152 reported on 3 unrelated consanguineous families from Pakistan where affected family members have congenital cataracts. All three families have different variants. The authors also created a Drosophila knockdown model and showed the mechanism by which DNMBP causes cataracts. There is enough evidence for this gene to be green.; Changed publications: 30290152",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.405289Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: WFS1: Added comment: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; Changed publications: 28468959, 21067485, 23531866, 21623599, 27217304, 23373429, 27468121, 28271591, 16151413",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:43:40.392794Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: LSS: Added comment: LSS is associated with a phenotype on OMIM but not Gene2Phenotype. There are 3 unrelated cases of children with cataracts who have variants in this gene (PMID: 26200641; 29016354; 16440058). Therefore there is enough evidence for this gene to be green.; Changed publications: 26200641, 29016354, 16440058",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:42:53.100229Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:42:53.087093Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:42:53.073610Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:42:53.060948Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:42:53.048288Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: GLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:42:53.035703Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:42:53.022980Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:42:53.009897Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DNMBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:42:52.996733Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:42:52.982289Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.721158Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: RIC1 was added\ngene: RIC1 was added to Cataracts. Sources: Literature,Expert Review Red\nMode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIC1 were set to 27878435\nPhenotypes for gene: RIC1 were set to Pediatric posterior lenticonus cataract and global developmental delay",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.656877Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: LONP1 was added\ngene: LONP1 was added to Cataracts. Sources: Literature,Expert Review Red\nMode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LONP1 were set to 25574826; 26622071; 27878435; 29408517; 25808063; 28148925\nPhenotypes for gene: LONP1 were set to CODAS syndrome, 600373",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.595766Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TAF1A was added\ngene: TAF1A was added to Cataracts. Sources: Literature,Expert Review Red\nMode of inheritance for gene: TAF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF1A were set to 27878435\nPhenotypes for gene: TAF1A were set to Congenital cataract and global developmental delay",
"entity_name": "TAF1A",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.534630Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TAPT1 was added\ngene: TAPT1 was added to Cataracts. Sources: Literature,Expert Review Red\nMode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAPT1 were set to 27878435\nPhenotypes for gene: TAPT1 were set to Pediatric posterior lenticonus cataract",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.474496Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: GEMIN4 was added\ngene: GEMIN4 was added to Cataracts. Sources: Literature,Expert Review Red\nMode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GEMIN4 were set to 27878435; 25558065\nPhenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913",
"entity_name": "GEMIN4",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.412919Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DYRK1A was added\ngene: DYRK1A was added to Cataracts. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DYRK1A were set to 28053047; 25944381\nPhenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7, 614104",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.352212Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: KIAA1109 was added\ngene: KIAA1109 was added to Cataracts. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1109 were set to 29290337; 30906834\nPhenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, 617822; Brain atrophy, Dandy Walker and Contractures",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.291141Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: AP4B1 was added\ngene: AP4B1 was added to Cataracts. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4B1 were set to 29430868\nPhenotypes for gene: AP4B1 were set to AP-4 deficiency syndrome and ocular anomalies",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.229203Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: XYLT2 was added\ngene: XYLT2 was added to Cataracts. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XYLT2 were set to 26987875; 26027496; 28884924; 30496831; 29136277\nPhenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.167903Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: GLS was added\ngene: GLS was added to Cataracts. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: GLS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GLS were set to 30239721\nPhenotypes for gene: GLS were set to ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.106519Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: GTF2H5 was added\ngene: GTF2H5 was added to Cataracts. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2H5 were set to 24986372; 15220921\nPhenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:05.045575Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: EIF2B2 was added\ngene: EIF2B2 was added to Cataracts. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF2B2 were set to 28041799; 21484434; 14566705\nPhenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:04.984065Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DNMBP was added\ngene: DNMBP was added to Cataracts. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: DNMBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNMBP were set to 30290152\nPhenotypes for gene: DNMBP were set to Cataract 48, 618415",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:04.916693Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: WFS1 was added\ngene: WFS1 was added to Cataracts. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: WFS1 were set to 27217304; 21067485; 28468959; 23531866; 21623599; 23373429; 28271591; 16151413; 27468121\nPhenotypes for gene: WFS1 were set to ?Cataract 41, 116400",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2019-08-28T15:40:04.847262Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: LSS was added\ngene: LSS was added to Cataracts. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSS were set to 16440058; 29016354; 26200641\nPhenotypes for gene: LSS were set to Cataract 44, 616509",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2019-08-28T13:34:02.198757Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RNLS were set to Aldahmesh (2012) Genet Med 14(12):955-962",
"entity_name": "RNLS",
"entity_type": "gene"
},
{
"created": "2019-07-31T15:41:43.507847Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from to R31",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-02-19T10:51:32.212582Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.26",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: LCAT as Green List (high evidence)",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2019-02-19T10:51:32.209555Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.26",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded based on curator review and expert advice.",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2019-02-19T10:51:32.187457Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.26",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: lcat has been classified as Green List (High Evidence).",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2019-02-19T10:43:04.333706Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.25",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: 12525539; Phenotypes: WEILL-MARCHESANI SYNDROME 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2019-01-30T14:20:37.467025Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.25",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: EYA1 were changed from Branchiootorenal syndrome 1, with or without cataracts, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780 to Branchiootorenal syndrome 1, with or without cataracts, 113650; Anterior segment anomalies with or without cataract, 113650; Branchiootic syndrome 1, 602588; Otofaciocervical syndrome, 166780",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2019-01-28T16:25:33.010825Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ISPD",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2019-01-28T16:25:28.157909Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2019-01-09T14:19:42.196414Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-01-09T13:02:13.909329Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, 248800",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2018-11-15T16:11:07.145051Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "1.21",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to \nPanel types changed to Rare Disease 100K; GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-03-21T13:14:26.316671Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on TMEM5",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2017-10-30T14:29:59.581000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified SIPA1L3 as amber",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2017-09-18T08:14:38.608000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified EED as green",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2017-09-18T08:13:59.197000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added EED to panel",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2017-09-18T08:13:57.963000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed EED",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2017-09-05T08:49:06.566000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified HTRA2 as green",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2017-09-05T08:46:43.299000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added HTRA2 to panel",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2017-09-05T08:46:37.550000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed HTRA2",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2017-08-08T13:24:11.806000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added SIPA1L3 to panel",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2017-08-08T13:24:10.364000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed SIPA1L3",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2017-05-16T08:39:35.524000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Owen Siggs",
"item_type": "entity",
"text": "reviewed CRYBB1",
"entity_name": "CRYBB1",
"entity_type": "gene"
},
{
"created": "2017-05-04T11:45:47.637000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on PRX",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2017-05-04T11:37:48.818000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added PRX to panel",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2017-05-04T11:37:44.618000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed PRX",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2017-03-21T15:39:23.660000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified MSMO1 as green",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2017-03-21T15:37:19.325000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added MSMO1 to panel",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2017-03-21T15:37:17.991000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed MSMO1",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2017-03-20T12:30:44.816000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added LCAT to panel",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2017-03-20T12:30:43.672000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed LCAT",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2017-02-23T14:51:16.246000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified INPP5K as green",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2017-02-23T14:50:58.631000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added INPP5K to panel",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2017-02-23T14:50:57.331000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed INPP5K",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2017-01-06T15:50:50.659000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of MIR184",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2017-01-06T14:51:13.404000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on CRYGFP",
"entity_name": "CRYGFP",
"entity_type": "gene"
},
{
"created": "2016-12-09T16:23:20.261000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on PVRL3",
"entity_name": "PVRL3",
"entity_type": "gene"
},
{
"created": "2016-12-09T15:31:02.709000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on LARGE",
"entity_name": "LARGE",
"entity_type": "gene"
},
{
"created": "2016-12-09T13:17:10.341000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on B3GALTL",
"entity_name": "B3GALTL",
"entity_type": "gene"
},
{
"created": "2016-12-07T17:42:08.781000Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of PVRL3",
"entity_name": "PVRL3",
"entity_type": "gene"
}
]