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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1322",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1320",
"results": [
{
"created": "2021-05-18T11:29:00.531275+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THOC2 as ready",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:29:00.520373+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc2 has been classified as Green List (High Evidence).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:28:57.179310+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THOC2 were changed from to Mental retardation, X-linked 12/35 MIM#300957",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:28:29.210793+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THOC2 were set to ",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:27:55.103537+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THOC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:27:16.988610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THOC2 as ready",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:27:16.979278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc2 has been classified as Green List (High Evidence).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:27:10.361152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THOC2 were changed from to Mental retardation, X-linked 12/35 MIM#300957",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:26:51.854217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THOC2 were set to ",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:26:31.773971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THOC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:25:39.492455+10:00",
"panel_name": "Renal Amyloidosis",
"panel_id": 191,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGA were set to PubMed: 8097946; 8639778; 12050338",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:25:07.072765+10:00",
"panel_name": "Renal Amyloidosis",
"panel_id": 191,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064749, 17295221, 19073821, 11739173; Phenotypes: Amyloidosis, familial visceral (MIM#105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:07:53.955430+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGA as ready",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:07:53.944805+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fga has been classified as Green List (High Evidence).",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:07:38.428347+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGA were changed from to Afibrinogenemia, congenital (MIM#202400)",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:07:10.053299+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGA were set to ",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:06:34.601172+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:06:09.772844+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064749, 17295221, 19073821, 11739173; Phenotypes: Afibrinogenemia, congenital (MIM#202400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:02:52.566281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGA as ready",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:02:52.555431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fga has been classified as Green List (High Evidence).",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:02:46.046759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGA were changed from to Afibrinogenemia, congenital (MIM#202400), AR; Amyloidosis, familial visceral (MIM#105200), AD",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:02:23.913801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGA were set to ",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T11:02:04.802265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-18T10:34:03.510056+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3776",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26166480, 32116545, 29851191, 32960281; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T10:23:11.439007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7637",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Multiple (>10) individuals with neurodevelopmental phenotypes reported with missense, splice, and exon deletion variants. Variants are reported de novo or inherited from a carrier mother. Note that null (whole gene deletion or NMD) variants have not been reported in affected individuals. Arg77Cys appears to be recurrent (reported in multiple individuals).; to: Multiple (>10) males with neurodevelopmental phenotypes reported with missense, splice, and exon deletion variants. Variants are reported de novo or inherited from a carrier mother. Note that null (whole gene deletion or NMD) variants have not been reported in affected individuals. Arg77Cys appears to be recurrent (reported in multiple individuals).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T10:22:52.111044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7637",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: THOC2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-18T10:22:26.467251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7637",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26166480, 32116545, 29851191, 32960281; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-05-17T20:02:37.638815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7637",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064749, 17295221, 19073821, 11739173; Phenotypes: Afibrinogenemia, congenital (MIM#202400), AR, Amyloidosis, familial visceral (MIM#105200), AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:14:21.093116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRHL2 as ready",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:14:21.079301+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhl2 has been classified as Green List (High Evidence).",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:14:13.276759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRHL2 were changed from to Ectodermal dysplasia/short stature syndrome MIM#616029; Corneal dystrophy, posterior polymorphous, 4, MIM# 618031; Deafness, autosomal dominant 28, MIM# 608641",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:13:54.592916+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRHL2 were set to ",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:13:35.503246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRHL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:13:15.916416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152456, 29499165; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029, Corneal dystrophy, posterior polymorphous, 4, MIM# 618031, Deafness, autosomal dominant 28, MIM# 608641; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:09:05.723902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST14 as ready",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:09:05.712153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st14 has been classified as Green List (High Evidence).",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:08:56.468645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ST14 were changed from to Ichthyosis, congenital, autosomal recessive 11, MIM# MIM#602400",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:08:34.258243+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ST14 were set to ",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:08:15.779141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-05-17T19:07:59.675552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 18843291, 29611532, 17273967; Phenotypes: Ichthyosis, congenital, autosomal recessive 11 MIM#602400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:33:00.977812+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ST14 as ready",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:33:00.967703+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: st14 has been classified as Green List (High Evidence).",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:32:57.004519+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ST14 as Green List (high evidence)",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:32:56.990564+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: st14 has been classified as Green List (High Evidence).",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:32:50.060060+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ST14 was added\ngene: ST14 was added to Ectodermal Dysplasia. Sources: NHS GMS\nMode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ST14 were set to 18843291; 29611532; 17273967\nPhenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11 MIM#602400\nReview for gene: ST14 was set to GREEN\nAdded comment: At least 4 consanguineous families with ichthyosis and generalized non-scarring hypotrichosis (an overlapping phenotype with ectodermal dysplasia), and some supporting evidence in patient keratinocytes. \nSources: NHS GMS",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:22:57.699523+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GRHL2 as ready",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:22:57.689133+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grhl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:22:49.920972+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GRHL2 as Amber List (moderate evidence)",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:22:49.911050+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grhl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:22:41.136364+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRHL2 was added\ngene: GRHL2 was added to Ectodermal Dysplasia. Sources: NHS GMS\nMode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRHL2 were set to 25152456\nPhenotypes for gene: GRHL2 were set to Ectodermal dysplasia/short stature syndrome MIM#616029\nReview for gene: GRHL2 was set to AMBER\nAdded comment: Two unrelated consanguineous families with homozygous missense variants and some supporting assays on keratinocytes from cases. \nSources: NHS GMS",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:03:56.800499+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ANAPC1 as ready",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:03:56.783476+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: anapc1 has been classified as Green List (High Evidence).",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:03:52.938218+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANAPC1 as Green List (high evidence)",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:03:52.925615+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: anapc1 has been classified as Green List (High Evidence).",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-05-17T17:03:45.761379+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANAPC1 was added\ngene: ANAPC1 was added to Ectodermal Dysplasia. Sources: NHS GMS\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 MIM#618625\nReview for gene: ANAPC1 was set to GREEN\nAdded comment: 7 cases from 5 families with biallelic variants (3 different variants) have at least 2 ectodermal features as part of the phenotype. \nSources: NHS GMS",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:45:02.211087+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NFKB2 as ready",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:45:02.199862+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfkb2 has been classified as Green List (High Evidence).",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:44:59.356234+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: NFKB2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:44:49.991740+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: NFKB2: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:44:21.906022+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NFKB2 as Green List (high evidence)",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:44:21.895376+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfkb2 has been classified as Green List (High Evidence).",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:44:14.646802+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NFKB2 was added\ngene: NFKB2 was added to Ectodermal Dysplasia. Sources: NHS GMS\nMode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFKB2 were set to 31417880; 28778864; 27749582\nPhenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM#615577\nReview for gene: NFKB2 was set to GREEN\nAdded comment: Heterozygous C-terminal variants (both stopgain and missense) with gain-of-function effects cause early onset common variable immunodeficiency (CVID) with ectodermal dysplasia, while loss of function cause CVID without ectodermal manifestations. >3 cases reported with ectodermal dysplasia as a feature of the condition. \nSources: NHS GMS",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:18:20.068743+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MBTPS2 as ready",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:18:20.058040+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Green List (High Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:18:17.195566+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MBTPS2 as Green List (high evidence)",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:18:17.185699+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Green List (High Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-05-17T16:18:10.300946+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MBTPS2 was added\ngene: MBTPS2 was added to Ectodermal Dysplasia. Sources: NHS GMS\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: MBTPS2 were set to 19361614; 22105905; 24313295\nPhenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome\tMIM#308205\nReview for gene: MBTPS2 was set to GREEN\nAdded comment: >3 families reported with ectodermal dysplasia as a feature of the condition, however there is phenotype variability and intra-familial phenotype variability. Ectodermal dysplasia is a feature of BRESHECK syndrome \nSources: NHS GMS",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-05-17T15:43:13.742248+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KRT14 as ready",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2021-05-17T15:43:13.732723+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt14 has been classified as Green List (High Evidence).",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2021-05-17T15:43:08.572470+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT14 as Green List (high evidence)",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2021-05-17T15:43:08.563552+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt14 has been classified as Green List (High Evidence).",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2021-05-17T15:43:01.929870+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT14 was added\ngene: KRT14 was added to Ectodermal Dysplasia. Sources: NHS GMS\nMode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT14 were set to 16960809; 30968399\nPhenotypes for gene: KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome\tMIM#161000; Dermatopathia pigmentosa reticularis MIM#125595\nReview for gene: KRT14 was set to GREEN\nAdded comment: >3 families reported with an ectodermal dysplasia syndrome that involves teeth, hair, and skin. \nSources: NHS GMS",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:29:14.421800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPE as ready",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:29:14.405959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpe has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:29:03.600598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPE as Amber List (moderate evidence)",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:29:03.590071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpe has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:28:45.971647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPE was added\ngene: CPE was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPE were set to 26120850; 32936766\nPhenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326\nReview for gene: CPE was set to AMBER\nAdded comment: Four affected individuals from two unrelated families reported, bi-allelic LoF variants. \nSources: Expert Review",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:27:15.665512+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPE as ready",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:27:15.654697+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpe has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:27:10.568133+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPE as Amber List (moderate evidence)",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:27:10.559590+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpe has been classified as Amber List (Moderate Evidence).",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:26:36.525881+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPE was added\ngene: CPE was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPE were set to 26120850; 32936766\nPhenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM#\t619326\nReview for gene: CPE was set to AMBER\nAdded comment: Four affected individuals from two unrelated families reported, bi-allelic LoF variants. \nSources: Expert list",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:23:13.149883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CELSR1 as ready",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:23:13.139884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr1 has been classified as Green List (High Evidence).",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:23:04.429884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CELSR1 as Green List (high evidence)",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:23:04.418947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr1 has been classified as Green List (High Evidence).",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-05-16T17:22:48.314577+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CELSR1 was added\ngene: CELSR1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELSR1 were set to 31215153; 31403174; 26855770\nPhenotypes for gene: CELSR1 were set to Lymphatic malformation 9, MIM# 619319\nReview for gene: CELSR1 was set to GREEN\nAdded comment: 3 unrelated families reported. \nSources: Literature",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-05-15T20:59:32.935386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A4RG as ready",
"entity_name": "SLC2A4RG",
"entity_type": "gene"
},
{
"created": "2021-05-15T20:59:32.923844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a4rg has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A4RG",
"entity_type": "gene"
},
{
"created": "2021-05-15T20:59:23.274607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC2A4RG as Red List (low evidence)",
"entity_name": "SLC2A4RG",
"entity_type": "gene"
},
{
"created": "2021-05-15T20:59:23.263603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a4rg has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A4RG",
"entity_type": "gene"
},
{
"created": "2021-05-15T20:58:23.434838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLCO1B1 as ready",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2021-05-15T20:58:23.416801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Not a monogenic disorder.",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2021-05-15T20:58:23.372355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slco1b1 has been classified as Red List (Low Evidence).",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2021-05-15T20:58:05.372059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLCO1B1 were changed from to Hyperbilirubinemia, Rotor type, digenic\t237450",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2021-05-15T20:57:48.099466+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLCO1B1 were set to ",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2021-05-15T20:57:18.423494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLCO1B1 as Red List (low evidence)",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2021-05-15T20:57:18.413910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slco1b1 has been classified as Red List (Low Evidence).",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2021-05-15T18:06:08.601045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7623",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: SLC2A4RG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "SLC2A4RG",
"entity_type": "gene"
},
{
"created": "2021-05-15T17:34:23.234391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7623",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: SLCO1B1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30250148, 24918167; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLCO1B1",
"entity_type": "gene"
}
]
}