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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1730",
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"results": [
{
"created": "2020-07-15T15:28:55.562425+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm5 has been classified as Red List (Low Evidence).",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:28:50.507305+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:28:37.265363+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:28:21.471525+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:27:59.526734+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM5 as Red List (low evidence)",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:27:59.520045+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm5 has been classified as Red List (Low Evidence).",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:26:58.306353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM5 as ready",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:26:58.296956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm5 has been classified as Red List (Low Evidence).",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:26:23.645723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:26:20.764723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:25:25.738890+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM5 as Red List (low evidence)",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:25:25.731381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm5 has been classified as Red List (Low Evidence).",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:20:29.747769+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM5 as ready",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:20:29.740545+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm5 has been classified as Red List (Low Evidence).",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:20:26.529222+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8, MIM#\t617564 to Meier-Gorlin syndrome 8, MIM#\t617564",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:20:13.138939+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8\t617564 to Meier-Gorlin syndrome 8, MIM#\t617564",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:18:20.229476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATF3 as ready",
"entity_name": "ATF3",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:18:20.222231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atf3 has been classified as Red List (Low Evidence).",
"entity_name": "ATF3",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:18:12.547293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATF3 as Red List (low evidence)",
"entity_name": "ATF3",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:18:12.540307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atf3 has been classified as Red List (Low Evidence).",
"entity_name": "ATF3",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:17:50.294616+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATF3 as ready",
"entity_name": "ATF3",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:17:50.283857+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atf3 has been classified as Red List (Low Evidence).",
"entity_name": "ATF3",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:17:46.829815+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATF3 as Red List (low evidence)",
"entity_name": "ATF3",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:17:46.822871+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atf3 has been classified as Red List (Low Evidence).",
"entity_name": "ATF3",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:15:59.479605+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKKS as ready",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:15:59.471760+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkks has been classified as Green List (High Evidence).",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:15:54.940531+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231)",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:15:32.064316+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKKS were set to ",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T15:15:02.615553+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T14:36:01.897699+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.72",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 17761593, 28092701, 29476300, 22723313, 15602022; Phenotypes: Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2020-07-15T14:27:49.046072+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.72",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FEZF1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25192046, 32400067; Phenotypes: Hypogonadotropic hypogonadism 22, with or without anosmia 616030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T14:27:33.639314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3331",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FEZF1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25192046, 32400067; Phenotypes: Hypogonadotropic hypogonadism 22, with or without anosmia 616030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T13:59:52.209495+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TMEM199 was added\ngene: TMEM199 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM199 were set to 26833330; 29321044\nPhenotypes for gene: TMEM199 were set to Congenital disorder of glycosylation, type IIp\tMIM# 616829\nReview for gene: TMEM199 was set to GREEN\ngene: TMEM199 was marked as current diagnostic\nAdded comment: 4 patients from 3 unrelated families with a mild metabolic disorder primarily affecting the liver (PMID: 26833330). All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation.\r\n\r\nA follow up publication described 3 more unrelated cases with protein glycosylation deficiency, supporting the original paper (PMID: 29321044).\r\n\r\nAlthough this gene is red on PanelApp UK it has 2 green reviews (and no others). \nSources: Literature",
"entity_name": "TMEM199",
"entity_type": "gene"
},
{
"created": "2020-07-15T13:49:17.654971+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: PAPSS2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22791835, 25594860, 31461705, 23633440, 9771708, 19474428.; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2020-07-15T13:42:33.635718+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 610463, 25066056; Phenotypes: Congenital disorder of glycosylation, type 1aa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-07-15T13:19:27.182695+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TRIP11: Rating: AMBER; Mode of pathogenicity: None; Publications: 29872333, 20089971, 30728324, 30518689; Phenotypes: Achondrogenesis, type IA MIM# 200600, Osteochondrodysplasia MIM# 184260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-07-15T13:06:05.812359+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.72",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ERAL1 was added\ngene: ERAL1 was added to Disorders of Sex Differentiation. Sources: Expert list\nMode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERAL1 were set to PMID: 28449065\nPhenotypes for gene: ERAL1 were set to Perrault syndrome 6\t617565\nReview for gene: ERAL1 was set to AMBER\nAdded comment: PMID: 28449065 - 3 unrelated patient with perrault syndrome with the same founder missense (p.Asn236Ile). Symptoms included hearing loss, premature ovarian failure, primary amenorrhea\r\nSupported by functional analysis on patient cells, and transfected yeast reciprocating the phenotype. \nSources: Expert list",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T12:52:43.063620+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATP6AP1 was added\ngene: ATP6AP1 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: ATP6AP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6AP1 were set to PMID: 27231034\nPhenotypes for gene: ATP6AP1 were set to immunodeficiency-47 (MIM# \t300972)\nPenetrance for gene: ATP6AP1 were set to unknown\nReview for gene: ATP6AP1 was set to GREEN\nAdded comment: PMID: 27231034\r\n- 11 males from 6 families with defective glycosylation \nSources: Literature",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-07-15T12:40:09.443799+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.72",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: DMRT1 was added\ngene: DMRT1 was added to Disorders of Sex Differentiation. Sources: Expert list\nMode of inheritance for gene: DMRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DMRT1 were set to PMID: 31479588; 24934491; 29527098\nPhenotypes for gene: DMRT1 were set to Azoospermia\nReview for gene: DMRT1 was set to RED\nAdded comment: PMID: 31479588 - 1 patient with azoospermia and XY genotype. Also carries an additional variant in KLHL10\r\n\r\nPMID: 24934491 - 6 patients with male infertility, however the 4 identified variants were also found in 2 controls and have a high frequency in the population (gnomAD). No functional studies.\r\n\r\nPMID: 23555275 - Identifies CNVs in azoospermia patients, calls the gene a risk factor \nSources: Expert list",
"entity_name": "DMRT1",
"entity_type": "gene"
},
{
"created": "2020-07-15T12:19:36.991668+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: 12684507, 23404334, 24461433; Phenotypes: Congenital disorder of glycosylation, type Ii (MIM# 607906); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-07-15T12:07:30.190339+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.72",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DHCR24: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9450875, 11519011; Phenotypes: Desmosterolosis 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:38:25.965714+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POLG2 as ready",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:38:25.957280+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polg2 has been classified as Red List (Low Evidence).",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:38:15.023288+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLG2 was added\ngene: POLG2 was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLG2 were set to 21555342; 27775730\nPhenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131\nReview for gene: POLG2 was set to RED\nAdded comment: 3 unrelated cases have been reported with gastrointestinal symptoms and 3 different heterozygous missense (L153V, R369G, S423Y). All 3 missense are too common in gnomAD v2.1 for a dominant disease and biochemical assays demonstrated normal function for all expect R369G variants had reduced stimulation of processivity and decreased affinity for the catalytic subunit. \nSources: Expert list",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:38:06.912358+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2766",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: LHX3: Rating: RED; Mode of pathogenicity: None; Publications: 28302169; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:38:05.680074+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.72",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CYB5A was added\ngene: CYB5A was added to Disorders of Sex Differentiation. Sources: Expert list\nMode of inheritance for gene: CYB5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYB5A were set to PMID: 22170710; 32051920\nPhenotypes for gene: CYB5A were set to Methemoglobinemia and ambiguous genitalia\t250790\nReview for gene: CYB5A was set to GREEN\nAdded comment: PMID: 22170710 - 3 siblings with 46,XY DSD, sex steroid deficiency, female genitalia and a homozygous missense variant. Supported by LOF functional studies. Mineralocorticoids and glucocorticoids were normal.\r\n\r\nPMID: 32051920 - 1 female with a homozygous missense, no DSD but methemoglobinemia. All female genitalia are normal and she has had a normal female child.\r\nPaper reviews prior reports and notes an additional 2 unrelated homozygous reports of 46 XY DSD patients with normal Methemoglobin. All variants were rare/absent (gnomAD) and PTCs. \nSources: Expert list",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:20:39.674348+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.72",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302169, 17327381, 30262920; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:19:40.942791+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.72",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CUL4B was added\ngene: CUL4B was added to Disorders of Sex Differentiation. Sources: Expert list\nMode of inheritance for gene: CUL4B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: CUL4B were set to PMID: 25385192\nPhenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type)\t300354\nReview for gene: CUL4B was set to GREEN\nAdded comment: PMID: 25385192 - 25 patients (11 families) with syndromic features including hypogonadism (85%) and gynecomastia (33%) \nSources: Expert list",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:19:10.439277+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list).\r\n\r\nBiochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis.\r\n\r\nPatients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340).\r\n\r\nA patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579).\r\n\r\nTRAPPC11-CDG has been suggested to be a \"Novel CDG in ER to Golgi trafficking\r\n\" (PMID: 28484880) \nSources: Literature; to: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list).\r\n\r\nBiochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis.\r\n\r\nPatients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340).\r\n\r\nA patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579).\r\n\r\nTRAPPC11-CDG has been suggested to be a \"Novel CDG in ER to Golgi trafficking\" (PMID: 28484880) \r\nSources: Literature",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:18:00.993813+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TRAPPC11 was added\ngene: TRAPPC11 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108; 26912795; 27707803; 27862579; 28484880\nPhenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356\nReview for gene: TRAPPC11 was set to GREEN\ngene: TRAPPC11 was marked as current diagnostic\nAdded comment: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list).\r\n\r\nBiochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis.\r\n\r\nPatients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340).\r\n\r\nA patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579).\r\n\r\nTRAPPC11-CDG has been suggested to be a \"Novel CDG in ER to Golgi trafficking\r\n\" (PMID: 28484880) \nSources: Literature",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:17:24.839934+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR3C1 as ready",
"entity_name": "NR3C1",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:17:24.829652+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr3c1 has been classified as Green List (High Evidence).",
"entity_name": "NR3C1",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:17:21.461263+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR3C1 were changed from to Glucocorticoid resistance (MIM#615962)",
"entity_name": "NR3C1",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:16:59.729278+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR3C1 were set to ",
"entity_name": "NR3C1",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:16:19.395232+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR3C1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR3C1",
"entity_type": "gene"
},
{
"created": "2020-07-15T11:09:23.442784+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.69",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CBX2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 19361780, 31719618, 23219007; Phenotypes: ?46XY sex reversal 5 613080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBX2",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:52:51.354169+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.69",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: MCM5 was added\ngene: MCM5 was added to Disorders of Sex Differentiation. Sources: Expert Review\nMode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM5 were set to 28198391\nPhenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8 (MIM#617564)\nReview for gene: MCM5 was set to RED\nAdded comment: Only single patient reported in 2017. Patient presented with microstomia, thick lips, micrognathia, bilateral microtia, low set ears and bilateral cryptorchidism. \nSources: Expert Review",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:50:17.937909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3331",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: MCM5 was added\ngene: MCM5 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM5 were set to 28198391\nPhenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8 (MIM#617564)\nReview for gene: MCM5 was set to RED\nAdded comment: Compound heterozgyous variants reported in one patient. Insufficient evidence supporting gene disease association \nSources: Expert Review",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:48:33.557291+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: XYLT2: Changed phenotypes: Spondyloocular syndrome MIM# 605822",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:48:31.615317+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.34",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: MCM5: Rating: RED; Mode of pathogenicity: None; Publications: 28198391; Phenotypes: ?Meier-Gorlin syndrome 8 (MIM#617564); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:48:10.980466+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: XYLT2 was added\ngene: XYLT2 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XYLT2 were set to 26027496; 26987875; 30891060; 28484880\nReview for gene: XYLT2 was set to GREEN\ngene: XYLT2 was marked as current diagnostic\nAdded comment: 5 unrelated individuals/families in total described with Spondylo-Ocular Syndrome (PMID: 26027496, 26987875, 30891060).\r\n\r\nXYLT2-CDG has been referred to as a \"proteoglycan ‘linker’ glycan disorder\" (PMID: 28484880) \nSources: Literature",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:40:21.351958+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.69",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: None; Publications: 10973251, 26900326, 10973238; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome (MIM#236700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:33:54.727285+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "changed review comment from: OMIM - Glycosylphosphatidylinositol biosynthesis defect 11, AR\r\n\r\nFunction - Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol\r\n\r\nClingen - no association with CGD\r\n\r\nPMID: 24367057 - (2013) - A patient born to non-consanguineous parents developed intractable seizures with typical hypsarrhythmic pattern in electroencephalography, and was diagnosed as having West syndrome. Because the patient showed severe developmental delay with dysmorphic facial features and hyperphosphatasia, characteristics often seen in IGDs, the patient was tested for GPI deficiency. The patient had decreased surface expression of GPI-APs on blood granulocytes and was identified to be compound heterozygous for NM_178517:c.211A>C and c.499A>G mutations in PIGW.\r\n\r\nPMID: 27626616 - (2016) Two second-degree cousins with unexplained patterns of seizures. Next-generation sequencing identified the homozygous c.460A>G; p.(R154G) PIGW mutation in both patients. Transfection of the mutated allele into Pigw-defective CHO cells indicated impaired enzymatic activity of the mutated PIGW product. The patients' phenotype is remarkably different from the phenotype of the only other described individual with PIGW mutations. \r\n\r\nPMID: 30813920 - (2019) A Chinese boy with compound heterozygous PIGW mutations who suffers from severe pneumonia, mental retardation, and epilepsy. A 70-day-old boy presented with fever and cough over 20 days in duration at the time of admission. At the age of 6 months, unusual facial features were apparent, and seizures were clinically observed, accompanied by obvious cognitive delay. Next-generation sequencing identified novel PIGW c.178G > A and c.462A > T mutations\r\n\r\nPMID: 32198969 - (2020) A new patient with a novel homozygous missense variant in PIGW, who presented with hypotonia, severe intellectual disability, early-onset epileptic seizures, brain abnormalities, nystagmus, hand stereotypies, recurrent respiratory infections, distinctive facial features, and hyperphosphatasia. Our report expands the phenotype of GPI biosynthesis defect 11 to include stereotypies and recurrent respiratory infections.; to: OMIM - Glycosylphosphatidylinositol biosynthesis defect 11, AR\r\n\r\nFunction - Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol\r\n\r\nClingen - no association with CGD\r\n\r\nPMID: 24367057 - (2013) - A patient born to non-consanguineous parents developed intractable seizures with typical hypsarrhythmic pattern in electroencephalography, and was diagnosed as having West syndrome. Because the patient showed severe developmental delay with dysmorphic facial features and hyperphosphatasia, characteristics often seen in IGDs, the patient was tested for GPI deficiency. The patient had decreased surface expression of GPI-APs on blood granulocytes and was identified to be compound heterozygous for NM_178517:c.211A>C and c.499A>G mutations in PIGW.\r\n\r\nPMID: 27626616 - (2016) Two second-degree cousins with unexplained patterns of seizures. Next-generation sequencing identified the homozygous c.460A>G; p.(R154G) PIGW mutation in both patients. Transfection of the mutated allele into Pigw-defective CHO cells indicated impaired enzymatic activity of the mutated PIGW product. The patients' phenotype is remarkably different from the phenotype of the only other described individual with PIGW mutations. \r\n\r\nPMID: 30813920 - (2019) A Chinese boy with compound heterozygous PIGW mutations who suffers from severe pneumonia, mental retardation, and epilepsy. A 70-day-old boy presented with fever and cough over 20 days in duration at the time of admission. At the age of 6 months, unusual facial features were apparent, and seizures were clinically observed, accompanied by obvious cognitive delay. Next-generation sequencing identified novel PIGW c.178G > A and c.462A > T mutations\r\n\r\nPMID: 32198969 - (2020) A new patient with a novel homozygous missense variant in PIGW, who presented with hypotonia, severe intellectual disability, early-onset epileptic seizures, brain abnormalities, nystagmus, hand stereotypies, recurrent respiratory infections, distinctive facial features, and hyperphosphatasia. Our report expands the phenotype of GPI biosynthesis defect 11 to include stereotypies and recurrent respiratory infections.\r\n\r\nSummary - Multiple unrelated families reported with different recessive variants either homozygous or compound heterozygous. Functional studies showed impaired enzymatic activity",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:30:08.234115+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24367057, 27626616, 30813920, 32198969; Phenotypes: intractable seizures, West syndrome, severe developmental delay, dysmorphic facial features, hyperphosphatasia, epilepsy, recurrent respiratory infections, hypotonia, stereotypies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:20:59.176770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3331",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ATF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ATF3",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:20:47.408313+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.69",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ATF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ATF3",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:15:55.634829+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.28",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973251; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T10:03:47.314024+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31445883, 16767100; Phenotypes: portal vein thrombosis, persistent absence seizures, macrocephaly, infantile-onset cerebrovascular thrombotic events; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGM",
"entity_type": "gene"
},
{
"created": "2020-07-15T09:53:46.544446+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.69",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: NR3C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30158362; Phenotypes: Glucocorticoid resistance (MIM#615962); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NR3C1",
"entity_type": "gene"
},
{
"created": "2020-07-15T09:49:23.456079+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.57",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: None; Publications: 22492991, 28887793, 26138355; Phenotypes: Congenital disorder of glycosylation, type Is (MIM# 300884); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ALG13",
"entity_type": "gene"
},
{
"created": "2020-07-15T06:57:45.433883+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATL1 as ready",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T06:57:45.426943+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atl1 has been classified as Red List (Low Evidence).",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T06:57:41.975435+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATL1 were changed from to Neuropathy, hereditary sensory, type ID, MIM# 613708; Spastic paraplegia 3A, autosomal dominant, MIM# 182600",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T06:57:17.040613+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATL1 were set to ",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T06:56:50.961148+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T06:56:28.845150+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATL1 as Red List (low evidence)",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T06:56:28.834459+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atl1 has been classified as Red List (Low Evidence).",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T06:56:04.185849+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: None; Publications: 21336785, 28736820, 29180453, 29691679, 31236401; Phenotypes: Neuropathy, hereditary sensory, type ID, MIM# 613708, Spastic paraplegia 3A, autosomal dominant, MIM# 182600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:51:20.953151+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNPY3 as ready",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:51:20.941683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnpy3 has been classified as Green List (High Evidence).",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:51:14.269193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNPY3 were changed from to Epileptic encephalopathy, early infantile, 60 (MIM 617929)",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:50:58.316162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNPY3 were set to ",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:50:42.796554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNPY3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:50:25.219180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNPY3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29394991, 30237576; Phenotypes: Epileptic encephalopathy, early infantile, 60 (MIM 617929); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:50:13.134686+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNPY3 as ready",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:50:13.127568+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnpy3 has been classified as Green List (High Evidence).",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:49:36.958393+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNPY3 as Green List (high evidence)",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:49:36.948853+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnpy3 has been classified as Green List (High Evidence).",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:49:04.550434+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNPY3 as ready",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:49:04.543741+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnpy3 has been classified as Green List (High Evidence).",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:49:01.864593+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNPY3 were changed from to Epileptic encephalopathy, early infantile, 60 (MIM 617929)",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:48:38.294589+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNPY3 were set to ",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:48:21.404739+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNPY3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNPY3",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:47:40.729763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF21B as ready",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:47:40.722254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21b has been classified as Green List (High Evidence).",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:47:31.674680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF21B as Green List (high evidence)",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:47:31.664389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21b has been classified as Green List (High Evidence).",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:47:15.920131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF21B was added\ngene: KIF21B was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF21B were set to 32415109\nPhenotypes for gene: KIF21B were set to Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly\nMode of pathogenicity for gene: KIF21B 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: KIF21B was set to GREEN\nAdded comment: Asselin et al (2020 - PMID: 32415109) report on 4 individuals with KIF21B pathogenic variants. DD/ID (borderline intellectual functioning to severe ID) was a feature in all. Variable other findings included brain malformations (CCA) and microcephaly. 3 missense variants and a 4-bp insertion were identified, in 3 cases as de novo events while in a single subject the variant was inherited from the father who was also affected. The authors provide evidence for a role of KIF21B in the regulation of processes involved in cortical development and deleterious effect of the missense variants impeding neuronal migration and kinesin autoinhibition. Phenotypes specific to variants (e.g. CCA or microcephaly) were recapitulated in animal models. Missense variants are thought to exert a gain-of-function effect. As commented on, the 4-bp duplication (/frameshift) variant might not be pathogenic. In blood sample from the respective individual, RT-qPCR analysis suggested that haploinsufficiency (NMD) applies. Although Kif21b haploinsufficiency in mice was shown to lead to impaired neuronal positioning, the gene might partially tolerate LoF variants as also suggested by 28 such variants in gnomAD. Homozygous Kif21b ko mice display severe morphological abnormalities, partial loss of commissural fibers, cognitive deficits and altered synaptic transmission (several refs to previous studies provided by the authors). \nSources: Expert Review",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:46:16.513634+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF21B as ready",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-07-14T18:46:16.502993+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21b has been classified as Green List (High Evidence).",
"entity_name": "KIF21B",
"entity_type": "gene"
}
]
}