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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1698",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1696",
"results": [
{
"created": "2020-07-31T09:34:15.068767+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDAN1 as ready",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:34:15.057746+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdan1 has been classified as Green List (High Evidence).",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:25:29.179630+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDAN1 were changed from to Dyserythropoietic anemia, congenital, type Ia, 224120",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:25:08.148304+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDAN1 were set to ",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:24:43.057531+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:24:17.549919+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:23:18.239542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDAN1 as ready",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:23:18.226098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdan1 has been classified as Green List (High Evidence).",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:23:12.051555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDAN1 were changed from to Dyserythropoietic anemia, congenital, type Ia, 224120",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:22:55.576941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDAN1 were set to ",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:21:06.535242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:20:11.063020+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NGLY1 as ready",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:20:11.046068+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ngly1 has been classified as Green List (High Evidence).",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:20:08.709809+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:19:53.034743+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NGLY1 were set to ",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:19:31.444226+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:19:03.976563+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694, 32259258; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:17:57.529556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NGLY1 as ready",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:17:57.520965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ngly1 has been classified as Green List (High Evidence).",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:17:50.645139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:17:34.040238+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NGLY1 were set to ",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:17:10.151548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:16:53.144385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:14:11.907548+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IMPG2 as ready",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:14:11.897421+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impg2 has been classified as Green List (High Evidence).",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:14:06.456773+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IMPG2 were set to ",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:13:58.398834+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IMPG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:13:44.429366+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IMPG2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:13:32.021949+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32242237; Phenotypes: Retinitis pigmentosa 56, MIM# MIM#613581; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:12:55.997387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IMPG2 were changed from Retinitis pigmentosa 56, MIM#613581 to Retinitis pigmentosa 56, MIM#613581; Macular dystrophy, vitelliform, 5, MIM#\t616152",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:12:36.576539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IMPG2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:10:09.612622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IMPG2 as ready",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:10:09.603589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impg2 has been classified as Green List (High Evidence).",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:10:02.592465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IMPG2 were changed from to Retinitis pigmentosa 56, MIM#613581",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:09:44.538591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IMPG2 were set to ",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:09:28.434446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IMPG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:08:03.129785+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPNAT1 as ready",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:08:03.102135+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:07:58.722915+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNPNAT1 as Amber List (moderate evidence)",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:07:58.711388+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:07:31.361146+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPNAT1 was added\ngene: GNPNAT1 was added to Skeletal dysplasia. Sources: Expert list\nMode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNPNAT1 were set to 32591345\nPhenotypes for gene: GNPNAT1 were set to Rhizomelic skeletal dysplasia\nReview for gene: GNPNAT1 was set to AMBER\nAdded comment: PMID: 32591345 (2020) - Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Additional cases required to validate pathogenicity of GNPNAT1. \nSources: Expert list",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:05:55.381779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPNAT1 as ready",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:05:55.371469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:05:46.870421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNPNAT1 as Amber List (moderate evidence)",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:05:46.861642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:04:47.463122+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EEF1A2 as ready",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:04:47.452616+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1a2 has been classified as Green List (High Evidence).",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:04:44.198121+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:04:20.121191+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EEF1A2 were set to ",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:03:53.355328+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:03:31.036650+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:03:05.721960+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32160274; Phenotypes: Epileptic encephalopathy, early infantile, 33, MIM# 616409, Mental retardation, autosomal dominant 38, MIM# 616393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:02:22.022251+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EEF1A2 as ready",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:02:22.013144+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1a2 has been classified as Green List (High Evidence).",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:02:13.861163+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:01:52.412256+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EEF1A2 were set to ",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:01:28.890104+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:01:01.912216+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:00:37.541396+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32160274; Phenotypes: Epileptic encephalopathy, early infantile, 33, MIM# 616409, Mental retardation, autosomal dominant 38, MIM# 616393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T09:00:10.757426+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:59:23.270749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EEF1A2 as ready",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:59:23.259976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1a2 has been classified as Green List (High Evidence).",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:59:15.758979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM#\t616409; Mental retardation, autosomal dominant 38, MIM#\t616393",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:58:43.673656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EEF1A2 were set to ",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:58:28.288189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:42:20.534603+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KDF1 as ready",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:42:20.524539+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kdf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:42:16.710919+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KDF1 as Amber List (moderate evidence)",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:42:16.695605+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kdf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:41:54.428359+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KDF1 was added\ngene: KDF1 was added to Hair disorders. Sources: Expert list\nMode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDF1 were set to 27838789; 24075906\nPhenotypes for gene: KDF1 were set to Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MIM#617337\nReview for gene: KDF1 was set to AMBER\nAdded comment: A single multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia, with hair abnormalities and a supporting null mouse model. \nSources: Expert list",
"entity_name": "KDF1",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:36:30.867698+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RMRP as ready",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:36:30.858956+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Green List (High Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:36:26.521909+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RMRP as Green List (high evidence)",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:36:26.508828+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Green List (High Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:36:17.487963+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RMRP was added\ngene: RMRP was added to Hair disorders. Sources: Expert list\nMode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RMRP were set to 16838329; 11207361\nPhenotypes for gene: RMRP were set to Cartilage-hair hypoplasia MIM#250250\nReview for gene: RMRP was set to GREEN\nAdded comment: Well-established cause of a hair abnormality \nSources: Expert list",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2020-07-31T02:19:36.266432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model. \nSources: Literature; to: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was not performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model. \r\nSources: Literature",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T02:14:18.005424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ANO1 was added\ngene: ANO1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANO1 were set to 32487539\nAdded comment: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model. \nSources: Literature",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2020-07-31T01:19:57.326974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: TUBB2A",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-07-31T00:17:06.659553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: PMP22: Rating: ; Mode of pathogenicity: None; Publications: 32356557; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-07-30T23:56:48.418642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-30T23:47:59.295436+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-07-30T23:46:05.523429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: NGLY1: Rating: ; Mode of pathogenicity: None; Publications: 32259258; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-07-30T22:28:19.593504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: GNPNAT1: Changed rating: AMBER",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-30T21:33:57.866380+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: IMPG2: Rating: ; Mode of pathogenicity: None; Publications: 32242237; Phenotypes: Retinitis pigmentosa 56 MIM#613581; Mode of inheritance: None",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-30T21:21:16.875262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. \r\nGnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. \nSources: Literature; to: PMID: 32591345 (2020) - Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. \r\nGnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Additional cases required to validate pathogenicity of GNPNAT1. \r\nSources: Literature",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-30T21:19:52.987124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: GNPNAT1 was added\ngene: GNPNAT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNPNAT1 were set to 32591345\nPhenotypes for gene: GNPNAT1 were set to Rhizomelic skeletal dysplasia\nReview for gene: GNPNAT1 was set to RED\nAdded comment: Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. \r\nGnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. \nSources: Literature",
"entity_name": "GNPNAT1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:32:33.388164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: EEF1A2: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32160274; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:28:58.229126+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VHL as ready",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:28:58.219114+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vhl has been classified as Green List (High Evidence).",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:28:55.096616+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VHL were changed from to von Hippel-Lindau syndrome , MIM#193300",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:28:47.683495+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VHL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:28:37.796038+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Hippel-Lindau syndrome , MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:28:06.482555+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC2 as ready",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:28:06.472374+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Green List (High Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:28:04.445345+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:27:57.502986+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:27:48.741735+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:27:21.748802+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC1 as ready",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:27:21.714412+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Green List (High Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:27:18.751517+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, MIM# 191100",
"entity_name": "TSC1",
"entity_type": "gene"
}
]
}