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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1767",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1765",
"results": [
{
"created": "2020-06-18T09:34:56.564098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SOHLH1 as Green List (high evidence)",
"entity_name": "SOHLH1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:34:56.542457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sohlh1 has been classified as Green List (High Evidence).",
"entity_name": "SOHLH1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:33:42.730031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOHLH1 was added\ngene: SOHLH1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SOHLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SOHLH1 were set to 25774885; 16690745; 31042289; 20506135; 28718531\nPhenotypes for gene: SOHLH1 were set to Ovarian dysgenesis 5 MIM#617690; Spermatogenic failure 32 MIM#618115\nReview for gene: SOHLH1 was set to GREEN\nAdded comment: Women in 3 unrelated families with ovarian dysgenesis and homozygous variants, and a supporting null mouse model.\r\nAt least 4 males with heterozygous variants and spermatogenic failure. \nSources: Expert list",
"entity_name": "SOHLH1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:27:59.775155+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SOHLH1 as ready",
"entity_name": "SOHLH1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:27:59.762809+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sohlh1 has been classified as Green List (High Evidence).",
"entity_name": "SOHLH1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:27:50.258540+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SOHLH1 were changed from to Ovarian dysgenesis 5 MIM#617690",
"entity_name": "SOHLH1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:27:40.627860+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SOHLH1 were set to ",
"entity_name": "SOHLH1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:27:21.142725+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SOHLH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25774885, 16690745, 31042289; Phenotypes: Ovarian dysgenesis 5 MIM#617690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SOHLH1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:09:54.369978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HFM1 as ready",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:09:54.360199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hfm1 has been classified as Green List (High Evidence).",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:09:44.318221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HFM1 as Green List (high evidence)",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:09:44.308269+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hfm1 has been classified as Green List (High Evidence).",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:09:21.093474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HFM1 was added\ngene: HFM1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: HFM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HFM1 were set to 23555294; 24597873; 31279343\nPhenotypes for gene: HFM1 were set to Premature ovarian failure 9 MIM#615724\nReview for gene: HFM1 was set to GREEN\nAdded comment: Three cases from 2 unrelated families with compound heterozygous variants, and a single family with a heterozygous variant have been reported with ovarian failure. There is also a supporting null mouse model. \nSources: Expert list",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:07:34.382967+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23555294, 24597873, 31279343; Phenotypes: Premature ovarian failure 9 MIM#615724; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2020-06-18T08:41:38.513289+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GDF9 as Amber List (moderate evidence)",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2020-06-18T08:41:38.501872+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gdf9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2020-06-18T08:41:16.031813+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GDF9: Rating: AMBER; Mode of pathogenicity: None; Publications: 29044499, 8849725; Phenotypes: Premature ovarian failure 14 MIM#618014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2020-06-18T08:16:59.123803+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: FMR1.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2020-06-18T08:12:31.784726+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-17T23:39:54.715796+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.74",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: ZNF462 as ready",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:39:54.706884+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.74",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: znf462 has been classified as Green List (High Evidence).",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:39:32.233267+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.74",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: ZNF462 as Green List (high evidence)",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:39:32.223934+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.74",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: znf462 has been classified as Green List (High Evidence).",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:38:59.459667+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.73",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: ZNF462 was added\ngene: ZNF462 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF462 were set to 28513610\nPhenotypes for gene: ZNF462 were set to WEISS-KRUSZKA SYNDROME\nPenetrance for gene: ZNF462 were set to Complete\nReview for gene: ZNF462 was set to GREEN\nAdded comment: Craniosynostosis observed in 38% of affected individuals \nSources: Literature",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:35:50.799495+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.72",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: WDR35 as ready",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:35:50.790109+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.72",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: wdr35 has been classified as Green List (High Evidence).",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:34:37.396461+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.72",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: WDR35 as Green List (high evidence)",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:34:37.386462+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.72",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: wdr35 has been classified as Green List (High Evidence).",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:32:55.280141+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.71",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: WDR35 was added\ngene: WDR35 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR35 were set to 20817137; 24123776\nPhenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA\nPenetrance for gene: WDR35 were set to Complete\nReview for gene: WDR35 was set to GREEN\nAdded comment: Craniosynostosis is a well-established feature of Sensenbrenner/Cranioectodermal dysplasia \nSources: Literature",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:29:23.666781+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.70",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: SMAD3 as ready",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:29:23.654369+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.70",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Green List (High Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:29:19.247634+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.70",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: SMAD3 as Green List (high evidence)",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:29:19.235326+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.70",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Green List (High Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:27:53.274520+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.69",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: SMAD3 was added\ngene: SMAD3 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD3 were set to 20301312\nPhenotypes for gene: SMAD3 were set to LOEYS-DIETZ SYNDROME\nPenetrance for gene: SMAD3 were set to Complete\nAdded comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3 \nSources: Literature",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:24:33.563912+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.68",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: TGFBR2 as Green List (high evidence)",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:24:33.550944+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.68",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:24:01.615271+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.67",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: TGFBR2 as Green List (high evidence)",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:24:01.602630+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.67",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:23:51.704586+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.66",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: TGFBR2 as ready",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:23:51.691056+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.66",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Red List (Low Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:23:31.127499+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.66",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: TGFBR2 was added\ngene: TGFBR2 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGFBR2 were set to 15731757\nPhenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME\nPenetrance for gene: TGFBR2 were set to Complete\nReview for gene: TGFBR2 was set to GREEN\nAdded comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3 \nSources: Literature",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:22:12.255754+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.65",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: TGFBR1 as ready",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:22:12.244377+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.65",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:21:18.790252+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.65",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: TGFBR1 as Green List (high evidence)",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:21:18.780609+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.65",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:20:42.451245+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.64",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: TGFBR1 was added\ngene: TGFBR1 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGFBR1 were set to 15731757\nPhenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome\nPenetrance for gene: TGFBR1 were set to Complete\nReview for gene: TGFBR1 was set to GREEN\nAdded comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3 \nSources: Literature",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:13:11.213603+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.63",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: SMO as ready",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:13:11.200875+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.63",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: smo has been classified as Green List (High Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:13:04.437996+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.63",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: SMO as Green List (high evidence)",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:13:04.429336+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.63",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: smo has been classified as Green List (High Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-17T23:12:07.849541+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.62",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: SMO was added\ngene: SMO was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMO were set to 27236920\nPhenotypes for gene: SMO were set to Curry-Jones syndrome\nPenetrance for gene: SMO were set to Complete\nMode of pathogenicity for gene: SMO was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: SMO was set to GREEN\nAdded comment: Mosaic activating variants in SMO associated with Curry-Jones syndrome - craniosynostosis is a key feature. \nSources: Literature",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:53:14.843000+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.61",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: SMAD6 as ready",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:53:14.830799+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.61",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: smad6 has been classified as Green List (High Evidence).",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:51:14.700592+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.61",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: SMAD6 as Green List (high evidence)",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:51:14.687939+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.61",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: smad6 has been classified as Green List (High Evidence).",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:49:07.957248+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.60",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: SMAD6 was added\ngene: SMAD6 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD6 were set to 32499606; 27606499\nPhenotypes for gene: SMAD6 were set to non-syndromic craniosynostosis\nPenetrance for gene: SMAD6 were set to Incomplete\nReview for gene: SMAD6 was set to GREEN\nAdded comment: Penetrance is 57%. A common polymorphism near BMP2 (rs1884302) was initially proposed to influence penetrance, but follow-up study did not corroborate this. In vitro luciferase assays suggest loss of SMAD6 inhibitory function. \nSources: Literature",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:16:33.479083+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.59",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: SKI as Green List (high evidence)",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:16:33.469602+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.59",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: ski has been classified as Green List (High Evidence).",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:12:23.542033+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.58",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: SKI was added\ngene: SKI was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SKI were set to 23023332; 23103230; 24736733\nPhenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME\nPenetrance for gene: SKI were set to Complete\nMode of pathogenicity for gene: SKI was set to Other\nReview for gene: SKI was set to GREEN\nAdded comment: Mutational hotspot suggests a mechanism that is not LOF \nSources: Literature",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:05:04.988654+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.57",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: SHOC2 as ready",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:05:04.979216+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.57",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: shoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:03:08.340105+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.57",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: SHOC2 as Amber List (moderate evidence)",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:03:08.328981+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.57",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: shoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-06-17T22:01:42.551441+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.56",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: SHOC2 was added\ngene: SHOC2 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SHOC2 were set to 28650561; 25123707\nPhenotypes for gene: SHOC2 were set to Noonan syndrome with loose anagen hair\nPenetrance for gene: SHOC2 were set to Complete\nMode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: SHOC2 was set to AMBER\nAdded comment: Two unrelated individuals with SHOC2-related Noonan syndrome and craniosynostosis; other Noonan syndrome genotypes have higher incidence of craniosynostosis. \nSources: Literature",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-06-17T20:12:14.702799+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.55",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: MEGF8 as ready",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2020-06-17T20:12:14.692881+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.55",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: megf8 has been classified as Green List (High Evidence).",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2020-06-17T20:12:10.444446+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.55",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: MEGF8 as Green List (high evidence)",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2020-06-17T20:12:10.435096+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.55",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: megf8 has been classified as Green List (High Evidence).",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2020-06-17T20:11:21.406084+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.54",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: MEGF8 was added\ngene: MEGF8 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MEGF8 were set to 23063620\nPhenotypes for gene: MEGF8 were set to Carpenter syndrome\nPenetrance for gene: MEGF8 were set to Complete\nReview for gene: MEGF8 was set to GREEN\nAdded comment: Craniosynostosis is a key feature of Carpenter syndrome - identified in 4/4 unrelated individuals with MEGF8 biallelic variants \nSources: Literature",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:59:00.133831+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.53",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: MASP1 as Green List (high evidence)",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:59:00.122267+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.53",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: masp1 has been classified as Green List (High Evidence).",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:58:28.666396+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.52",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: MASP1 was added\ngene: MASP1 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MASP1 were set to 7677137; 21258343\nPhenotypes for gene: MASP1 were set to 3MC syndrome\nPenetrance for gene: MASP1 were set to Complete\nReview for gene: MASP1 was set to GREEN\nAdded comment: Craniosynostosis occurs in 20-30% of individuals with 3MC syndrome \nSources: Literature",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:06:14.651364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK9 as ready",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:06:14.636658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Red List (Low Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:06:03.521968+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK9 were changed from to Lethal congenital contracture syndrome 10, MIM# 617022; Skeletal dysplasia",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:05:47.917129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK9 were set to ",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:05:33.584232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:05:19.263275+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK9 as Red List (low evidence)",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:05:19.251831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Red List (Low Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:04:59.822408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK9: Rating: RED; Mode of pathogenicity: None; Publications: 26908619; Phenotypes: Lethal congenital contracture syndrome 10, MIM# 617022, Skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:04:23.706630+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK9 as ready",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:04:23.697821+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Red List (Low Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:04:17.599220+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: NEK9.",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:04:01.626046+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK9 was added\ngene: NEK9 was added to Skeletal Dysplasia_Fetal. Sources: Expert list\nMode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK9 were set to 26908619\nPhenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM#\t617022; Skeletal dysplasia\nReview for gene: NEK9 was set to RED\nAdded comment: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data. \nSources: Expert list",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:03:48.412832+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: NEK9.",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:03:31.463597+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK9 as ready",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:03:31.440700+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Red List (Low Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T19:02:48.269875+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK9 was added\ngene: NEK9 was added to Skeletal dysplasia. Sources: Expert list\nMode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK9 were set to 26908619\nPhenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM#\t617022; Skeletal dysplasia\nReview for gene: NEK9 was set to RED\nAdded comment: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data. \nSources: Expert list",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:35:47.140328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSTN as ready",
"entity_name": "MSTN",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:35:47.126297+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mstn has been classified as Red List (Low Evidence).",
"entity_name": "MSTN",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:35:39.390751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSTN were changed from to Muscle hypertrophy, MIM# 614160",
"entity_name": "MSTN",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:35:19.772589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MSTN were set to ",
"entity_name": "MSTN",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:34:46.303169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSTN",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:34:25.938668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSTN as Red List (low evidence)",
"entity_name": "MSTN",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:34:25.926127+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mstn has been classified as Red List (Low Evidence).",
"entity_name": "MSTN",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:34:06.472181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MSTN: Rating: RED; Mode of pathogenicity: None; Publications: 15215484; Phenotypes: Muscle hypertrophy, MIM# 614160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSTN",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:08:37.250303+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPB8 as ready",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:08:37.238990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspb8 has been classified as Green List (High Evidence).",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:08:28.935285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPB8 were changed from to Distal myopathy; Vacuolar myopathy; Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2020-06-17T18:08:08.647743+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSPB8 were set to ",
"entity_name": "HSPB8",
"entity_type": "gene"
}
]
}