HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1668",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1666",
"results": [
{
"created": "2020-08-17T19:22:16.468072+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAT were changed from to Tyrosinemia, type II (MIM#276600)",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:21:55.651069+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAT were set to ",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:21:30.323691+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:20:47.625116+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGM1 as ready",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:20:47.610960+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm1 has been classified as Green List (High Evidence).",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:20:45.283014+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGM1 were changed from to Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:20:22.742549+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGM1 were set to ",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:20:01.951101+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:19:39.694911+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890349, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1 (MIM#242300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:17:19.880938+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGM1 as ready",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:17:19.871670+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm1 has been classified as Green List (High Evidence).",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:17:14.659359+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TGM1 as Green List (high evidence)",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:17:14.648781+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm1 has been classified as Green List (High Evidence).",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:15:58.887429+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSMO1 as ready",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:15:58.881586+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Possible phenotypic overlap but not clear.",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:15:58.841538+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msmo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:15:52.667629+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSMO1 as Amber List (moderate evidence)",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:15:52.658911+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msmo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:12:27.534958+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS33B as ready",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:12:27.525879+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:12:21.896903+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS33B as Green List (high evidence)",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:12:21.886697+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:11:55.990012+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: VPS33B.",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:11:46.537472+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017832, 30561130; Phenotypes: Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:09:06.852712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT6C as ready",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:09:06.842262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt6c has been classified as Green List (High Evidence).",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:09:00.603360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT6C were changed from to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:08:45.381731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT6C were set to ",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:08:28.308452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT6C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:08:12.381765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:07:12.448064+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT6C as ready",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:07:12.439277+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt6c has been classified as Green List (High Evidence).",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:07:09.400852+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT6C were changed from to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:06:43.361949+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT6C were set to ",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:06:18.959889+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT6C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:05:00.853496+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGL as ready",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:05:00.842785+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigl has been classified as Green List (High Evidence).",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:04:56.261566+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGL as Green List (high evidence)",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:04:56.252824+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigl has been classified as Green List (High Evidence).",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:03:59.691981+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SASH1 as ready",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:03:59.682970+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sash1 has been classified as Red List (Low Evidence).",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:03:54.937922+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SASH1 as Red List (low evidence)",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:03:54.927555+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sash1 has been classified as Red List (Low Evidence).",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:01:27.011754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT6B as ready",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:01:26.996038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt6b has been classified as Green List (High Evidence).",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:01:21.105680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT6B were changed from to Pachyonychia congenita 4 (MIM#615728)",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:01:06.086460+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT6B were set to ",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:00:50.907059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T19:00:34.134986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 4 (MIM#615728); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T18:59:13.989237+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT6B as ready",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T18:59:13.980905+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt6b has been classified as Green List (High Evidence).",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T18:58:45.717541+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT6B were changed from to Pachyonychia congenita 4 (MIM#615728)",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T18:58:19.882390+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT6B were set to ",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T18:57:54.884000+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-17T17:48:35.166810+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.90",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD). \r\n\r\nMEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Ichthyosis is considered characteristic. \nSources: Literature; to: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD). \r\n\r\nMEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. \r\nSources: Literature",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-08-17T17:48:04.125188+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: AP1S1 was added\ngene: AP1S1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP1S1 were set to 19057675; 23423674; 30244301\nPhenotypes for gene: AP1S1 were set to MEDNIK syndrome (MIM#609313)\nReview for gene: AP1S1 was set to GREEN\ngene: AP1S1 was marked as current diagnostic\nAdded comment: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD). \r\n\r\nMEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Patients all present with hyperkeratosis. \nSources: Literature",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-08-17T17:48:02.430744+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.90",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: AP1S1 was added\ngene: AP1S1 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP1S1 were set to 19057675; 23423674; 30244301\nPhenotypes for gene: AP1S1 were set to MEDNIK syndrome (MIM#609313)\nReview for gene: AP1S1 was set to GREEN\ngene: AP1S1 was marked as current diagnostic\nAdded comment: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD). \r\n\r\nMEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Ichthyosis is considered characteristic. \nSources: Literature",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-08-17T17:04:21.783119+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: STS was added\ngene: STS was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: STS were set to PMID: 29672931\nPhenotypes for gene: STS were set to Ichthyosis, X-linked\t(MIM#308100)\nPenetrance for gene: STS were set to unknown\nReview for gene: STS was set to AMBER\nAdded comment: PMID: 29672931;\r\n- cohort of 35 Italian patients\r\n- 3 patients with mild palmoplantar keratoderma at birth - unclear what their variants are\r\n- 27x with complete STS gene deletion\r\n- 1x partial deletion leading to loss of exon 7\r\n- 7x (including 3 pairs of siblings) had missense variants\r\n\r\n* STS patients usually present with brownish thickened scales \nSources: Literature",
"entity_name": "STS",
"entity_type": "gene"
},
{
"created": "2020-08-17T16:26:12.978935+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Association with Chanarin-Dorfman syndrome (CDS) is well established. \r\n\r\nThe skin phenotype associated with CDS is ]ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report. \nSources: Literature; to: Association with Chanarin-Dorfman syndrome (CDS) is well established. \r\n\r\nThe skin phenotype associated with CDS is ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report. \r\nSources: Literature",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-08-17T16:26:02.164440+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: ABHD5 was added\ngene: ABHD5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD5 were set to 16181472\nPhenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome (MIM#275630)\nReview for gene: ABHD5 was set to RED\ngene: ABHD5 was marked as current diagnostic\nAdded comment: Association with Chanarin-Dorfman syndrome (CDS) is well established. \r\n\r\nThe skin phenotype associated with CDS is ]ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report. \nSources: Literature",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-08-17T15:57:48.400515+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SULT2B1 was added\ngene: SULT2B1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: SULT2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SULT2B1 were set to 28575648\nPhenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14\t(MIM#617571)\nPenetrance for gene: SULT2B1 were set to unknown\nReview for gene: SULT2B1 was set to AMBER\nAdded comment: PMID: 28575648;\r\n- 6 affecteds in 3 families (including 2 consanguineous)\r\n- In family 1: 1x presented hyperkeratosis and generalized desquamation with large, dark scales typical of the lamellar form of ARCI \r\n- in family 2: 1x presented with hyperkeratosis and erythema.\r\n- in family 3: 2x showed a generalized very dry, scaly skin with severe itching and erythema at birth.\r\n> 2x missense, 1x PTV and 1x splice\r\n\r\nPMID: 30578701;\r\n- 2 families reported, both homozygous for a missense\r\n- both presented with palmoplantar keratoderma and only 1 reported with erythroderma \nSources: Literature",
"entity_name": "SULT2B1",
"entity_type": "gene"
},
{
"created": "2020-08-17T15:07:55.856697+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: KRT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31525823, 29044727, 7512862; Phenotypes: Palmoplantar keratoderma, epidermolytic (MIM#144200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "KRT9",
"entity_type": "gene"
},
{
"created": "2020-08-17T14:45:34.213142+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 31799120, 21145993, 18945316; Phenotypes: Tyrosinemia, type II (MIM#276600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2020-08-17T14:32:31.830652+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TGM1 was added\ngene: TGM1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TGM1 were set to 19890349; 24261627; 30302839\nPhenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1\t(MIM#242300)\nPenetrance for gene: TGM1 were set to unknown\nReview for gene: TGM1 was set to GREEN\nAdded comment: PMID: 19890349;\r\n- 1x patient with mild palmoplantar keratoderma in her fissures\r\n> cHet for c.877-2A>G and p.(Arg307Gly)\r\n\r\nPMID: 24261627;\r\n- 11x Ecuadorian patients\r\n- All showed ectropion, large, thick, dark, plate-like scales, palmoplantar keratoderma, and alopecia\r\n> both missense and PTVs reported \r\n\r\nPMID: 30302839;\r\n- 1x Japanese man with severe lamellar ichthyosis\r\n- his other clinical findings include palmoplantar keratoderma\r\n> cHet for 2 missense \nSources: Literature",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-17T14:17:35.311112+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.90",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').\r\n\r\nNot sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis. \nSources: Literature; to: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').\r\n\r\nNot sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis. \r\n\r\nThere also doesn't appear to be anything published more recently.\r\nSources: Literature",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2020-08-17T14:16:52.896371+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.90",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: MSMO1 was added\ngene: MSMO1 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSMO1 were set to 24144731; 21285510\nPhenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834)\nReview for gene: MSMO1 was set to AMBER\ngene: MSMO1 was marked as current diagnostic\nAdded comment: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').\r\n\r\nNot sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis. \nSources: Literature",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2020-08-17T14:10:26.802755+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: VPS33B was added\ngene: VPS33B was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS33B were set to 28017832; 30561130\nPhenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome\nPenetrance for gene: VPS33B were set to unknown\nReview for gene: VPS33B was set to AMBER\nAdded comment: Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome is a rare multisystem disorder caused by biallelic mutations in VPS33B\r\n\r\nPMID: 28017832;\r\n- 3x Austrian patients with assumed distant consanguinity\r\n- severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness\r\n> 2x homozygous for p.(Gly131Glu), whereas 1x patient cHet for p.(Gly131Glu) and the splice site mutation c.240-1G>C previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrome\r\n\r\nPMID: 30561130;\r\n- 1x patient with ichthyosis, palmoplantar keratosis, hearing loss, intellectual disability, unilateral hip dislocation, microcephaly and short stature\r\n> cHet for p.(Arg481Glyfs*11) and p.(Gly131Glu) \nSources: Literature",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:47:12.322658+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KRT6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:29:01.295526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT2 as ready",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:29:01.278808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt2 has been classified as Green List (High Evidence).",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:28:54.706827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT2 were changed from to Superficial epidermolytic ichthyosis (SEI) (MIM#146800)",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:28:38.750882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT2 were set to ",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:28:20.070271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:28:00.308383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581228, 22612346; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:27:13.841359+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT2 as ready",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:27:13.830205+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt2 has been classified as Green List (High Evidence).",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:27:08.674507+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT2 were changed from to Superficial epidermolytic ichthyosis (SEI) , MIM#146800",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:25:06.593169+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT2 were set to ",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:24:45.754927+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:20:52.399137+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT2 as ready",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:20:52.389298+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt2 has been classified as Green List (High Evidence).",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:20:47.768906+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT2 as Green List (high evidence)",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:20:47.759955+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt2 has been classified as Green List (High Evidence).",
"entity_name": "KRT2",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:19:49.991249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT17 as ready",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:19:49.979975+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt17 has been classified as Green List (High Evidence).",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:19:43.165245+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT17 were changed from to Pachyonychia congenita 2, MIM#167210; Steatocystoma multiplex, MIM# 184500",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:19:26.080059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT17 were set to ",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:19:09.566985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:18:51.910456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KRT17: Changed phenotypes: Pachyonychia congenita 2, MIM#167210, Steatocystoma multiplex, MIM# 184500",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:17:28.670855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts. PMID: 31823354; - cohort of 815 individuals, 134 patients had variants in KRT17 - approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma; to: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts. PMID: 31823354; - cohort of 815 individuals, 134 patients had variants in KRT17 - approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma. Steatocystoma multiplex is an allelic disorder.",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:16:06.658825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT17: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 2, MIM#167210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:14:50.613089+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT17 as ready",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:14:50.604735+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt17 has been classified as Green List (High Evidence).",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:14:47.690577+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT17 were changed from to Pachyonychia congenita 2 (MIM#167210)",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:14:21.328358+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT17 were set to ",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:13:46.608544+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:12:31.947647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINB7 as ready",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:12:31.937987+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinb7 has been classified as Green List (High Evidence).",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:12:24.736900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINB7 were changed from to Palmoplantar keratoderma, Nagashima type (MIM#615598)",
"entity_name": "SERPINB7",
"entity_type": "gene"
},
{
"created": "2020-08-17T13:12:06.801180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINB7 were set to ",
"entity_name": "SERPINB7",
"entity_type": "gene"
}
]
}