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{
"count": 220440,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=779",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=777",
"results": [
{
"created": "2022-08-17T16:35:08.216219+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oca2 has been classified as Red List (Low Evidence).",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:34:58.568663+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: OCA2.",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:34:48.336981+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type II (MIM#203200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:32:53.986620+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEB as ready",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:32:53.974237+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neb has been classified as Green List (High Evidence).",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:32:50.176373+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, 256030 (3) to Arthrogryposis multiplex congenita 6 (MIM#619334); Nemaline myopathy 2, autosomal recessive (MIM#256030)",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:32:36.307462+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEB were set to ",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:32:20.771944+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPZ as ready",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:32:20.758813+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpz has been classified as Green List (High Evidence).",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:32:14.300730+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPZ were set to ",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:32:01.296022+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: MPZ.",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:31:11.395697+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: NEB.",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:31:02.633979+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita 6 (MIM#619334), Nemaline myopathy 2, autosomal recessive (MIM#256030); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:29:15.965784+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LDLR as ready",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:29:15.957612+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldlr has been classified as Green List (High Evidence).",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:29:05.819931+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 3 families reported with biallelic variants.; to: More than 3 families reported with biallelic variants. Childhood/congenital onset.",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:28:12.064885+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dejerine-Sottas disease, MIM#145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:24:35.172997+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: LDLR.",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:24:26.214141+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolaemia, familial, 1 143890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:21:38.511391+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGHM as ready",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:21:38.499050+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighm has been classified as Green List (High Evidence).",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:20:55.566847+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ1 as ready",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:20:55.555312+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:20:51.422260+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGHM were changed from Agammaglobulinemia 1, 601495 (3) to Agammaglobulinaemia 1, 601495 (3)",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:20:39.924731+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGHM were set to ",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:20:28.486650+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ1 were set to ",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:20:11.775456+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome (MIM#220400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-08-17T16:17:05.018580+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 1 (MIM#601495); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:15:46.937266+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:15:46.924579+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:15:41.299435+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAR were changed from to Aicardi-Goutieres syndrome 6, MIM# 615010",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:14:56.617973+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:14:25.868614+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:10:17.548225+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG1 as ready",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:10:17.539475+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Green List (High Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:10:02.910333+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTG1 were changed from to Baraitser-Winter syndrome 2, MIM#614583",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:09:30.436903+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:08:58.110821+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2, MIM#614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:02:24.465770+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:02:24.454095+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:02:20.085136+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1, MIM# 243310; ACTB-related neurodevelopment disorder",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:01:45.234568+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTB were set to ",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:01:13.027451+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2022-08-17T14:00:41.467188+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29220674; Phenotypes: Baraitser-Winter syndrome 1 243310, ACTB-related neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:57:02.098182+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACO2 as ready",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:57:02.072464+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aco2 has been classified as Green List (High Evidence).",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:56:52.045629+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:56:22.702396+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACO2 were set to ",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:55:54.572732+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:54:57.835723+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:53:17.460412+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACO2 as ready",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:53:17.446994+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aco2 has been classified as Green List (High Evidence).",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:52:53.433292+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:52:22.690602+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACO2 were set to ",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:51:52.960886+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:51:20.363876+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:48:17.472115+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD1 as ready",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:48:17.463868+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Green List (High Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:47:26.431980+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD1 were changed from to Adrenoleukodystrophy, MIM# 300100",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:46:53.789656+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-08-17T13:46:23.248542+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-08-16T19:20:08.671813+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADS as ready",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2022-08-16T19:20:08.659720+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acads has been classified as Green List (High Evidence).",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2022-08-16T19:20:04.159959+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2022-08-16T19:19:35.835275+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2022-08-16T19:19:05.525752+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2022-08-16T19:17:28.501306+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADM as ready",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-08-16T19:17:28.493395+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-08-16T19:17:24.465949+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-08-16T19:16:46.474529+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-08-16T19:16:17.295934+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:15:18.293328+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX5 were changed from neurodevelopmental disorder MONDO:0700092 to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:14:48.007075+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:14:16.639190+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:13:45.322781+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35947077; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PAX5-related, Hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:12:50.834761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX5 were changed from Neurodevelopmental disorder MONDO:0700092, PAX5-related to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:12:31.074760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:12:11.390845+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:11:09.096251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35947077; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PAX5-related, Hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:10:45.706505+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX5 as ready",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:10:45.698113+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:10:20.940455+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX5 were changed from Hypogammaglobulinaemia to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:09:32.802347+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:09:09.122511+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX5 as Amber List (moderate evidence)",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T20:09:09.110964+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-08-15T13:46:24.371902+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.52",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:43:06.372772+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRIM1 as ready",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:43:06.359957+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:43:02.236604+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRIM1 as Amber List (moderate evidence)",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:43:02.224706+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:42:36.647995+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRIM1 was added\ngene: PRIM1 was added to Lipodystrophy_Lipoatrophy. Sources: Literature\nMode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRIM1 were set to 33060134\nPhenotypes for gene: PRIM1 were set to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005\nReview for gene: PRIM1 was set to AMBER\nAdded comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).\r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nLipodystrophy was part of the phenotype.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \nSources: Literature",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:41:31.393484+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:40:17.960905+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: PRIM1.\nTag founder tag was added to gene: PRIM1.",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:40:05.050922+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRIM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005; Mode of inheritance: None",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:39:24.108857+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:38:57.216257+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRIM1: Changed phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:38:37.240774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-15T07:38:10.988301+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRIM1: Changed phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-08-13T17:33:54.757677+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMG9 were changed from Heart and brain malformation syndrome, MIM#\t616920 to Heart and brain malformation syndrome, MIM#\t616920; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2022-08-13T17:33:26.141662+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMG9 were set to 27018474; 31390136",
"entity_name": "SMG9",
"entity_type": "gene"
}
]
}