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{
"count": 220265,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1367",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1365",
"results": [
{
"created": "2021-03-31T10:09:54.325213+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:09:30.364820+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome, MIM# 251260, MONDO:0009623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:08:28.300354+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBN as ready",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:08:28.290237+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbn has been classified as Green List (High Evidence).",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:08:25.559791+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:07:58.618353+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NBN were set to ",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:07:30.406522+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:06:51.693025+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome, MIM# 251260, MONDO:0009623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:06:05.798056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBN as ready",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:06:05.788206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbn has been classified as Green List (High Evidence).",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:05:39.105805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:05:20.726195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NBN were set to ",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:05:02.383781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:04:44.784397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome, MIM# 251260, MONDO:0009623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:04:07.105865+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBN as ready",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:04:07.095960+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbn has been classified as Green List (High Evidence).",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:04:03.941128+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NBN were set to ",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:03:30.176125+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:03:11.248953+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:02:25.685388+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:02:22.903545+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NBN: Added comment: The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal recessive chromosomal instability syndromes characterized by microcephaly, growth retardation, immunodeficiency, and predisposition to cancer.\r\n\r\n>100 patients reported.; Changed publications: 33488600, 33082212",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:00:11.668784+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome, MIM# 251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:58:54.371656+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSMO1 as ready",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:58:54.359967+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msmo1 has been classified as Green List (High Evidence).",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:58:37.860276+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols; MONDO:0014793",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:57:52.278572+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834) to Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834); MONDO:0014793",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:57:20.819896+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; MONDO:0014793",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:56:28.468573+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSMO1 as ready",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:56:28.458398+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msmo1 has been classified as Green List (High Evidence).",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:56:24.920255+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSMO1 were changed from to Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834; MONDO:0014793",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:55:58.220024+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MSMO1 were set to ",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:55:32.450943+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSMO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:54:58.961488+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MSMO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 21285510, 24144731, 33161406, 28673550, 33161406; Phenotypes: Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834, MONDO:0014793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:53:52.549284+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSMO1 as ready",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:53:52.526935+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msmo1 has been classified as Green List (High Evidence).",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:53:48.452722+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MSMO1 were set to ",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:53:32.625040+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSMO1 as ready",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:53:32.612367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msmo1 has been classified as Green List (High Evidence).",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:53:23.607901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSMO1 were changed from to Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834; MONDO:0014793; Disorders of the metabolism of sterols",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:52:53.789363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MSMO1 were set to ",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:52:27.859500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSMO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:52:12.775520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MSMO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21285510, 24144731, 28673550, 33161406; Phenotypes: Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834, MONDO:0014793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:52:01.098580+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSMO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:51:01.457282+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSMO1 were changed from to Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834; MONDO:0014793",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:49:57.627147+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MSMO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21285510, 24144731, 28673550, 33161406; Phenotypes: Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSMO1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:47:50.169158+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCPH1 as ready",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:47:50.158851+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcph1 has been classified as Red List (Low Evidence).",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:47:46.908864+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:47:17.452711+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:46:55.972798+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCPH1 as Red List (low evidence)",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:46:55.962734+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcph1 has been classified as Red List (Low Evidence).",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:46:32.516240+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200, MONDO:0009617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:45:09.473634+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCPH1 as ready",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:45:09.462366+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcph1 has been classified as Green List (High Evidence).",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:45:05.845185+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:44:40.043071+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCPH1 were set to ",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:44:14.814296+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:43:41.915296+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12046007, 15199523, 16311745, 20978018, 32294449, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200, MONDO:0009617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:43:00.303968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCPH1 as ready",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:43:00.295248+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcph1 has been classified as Green List (High Evidence).",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:42:53.216454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:42:30.152724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCPH1 were set to ",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:42:11.144307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:41:53.040269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12046007, 15199523, 16311745, 20978018, 32294449, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200, MONDO:0009617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:48:17.723502+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive, MIM# 251200 to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:47:10.819941+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCPH1 as ready",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:47:10.809344+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcph1 has been classified as Green List (High Evidence).",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:47:08.165076+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:46:48.680066+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCPH1 were set to ",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:46:20.638223+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:45:54.337785+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12046007, 15199523, 16311745, 20978018, 32294449, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:15:11.534352+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A3 as ready",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:15:11.522644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:15:04.308531+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235; Polymicrogyria",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:14:46.984677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A3 were set to ",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:13:58.285195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:13:36.145582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15260953, 22842232, 24468074, 33762331; Phenotypes: Alternating hemiplegia of childhood 2, MIM# 614820, CAPOS syndrome, MIM# 601338, Dystonia-12, MIM# 128235, Polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:12:27.790544+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP1A3 as Green List (high evidence)",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:12:27.780972+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:11:46.141810+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A3 as ready",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:11:46.132446+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a3 has been removed from the panel.",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-30T21:11:25.902783+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33762331; Phenotypes: Polymicrogyria, epilepsy, developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-30T15:22:43.726515+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.157",
"user_name": "Chloe Stutterd",
"item_type": "entity",
"text": "gene: ATP1A3 was added\ngene: ATP1A3 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A3 were set to PMID: 33762331\nPhenotypes for gene: ATP1A3 were set to Polymicrogyria; epilepsy; developmental delay\nReview for gene: ATP1A3 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-03-29T13:13:00.075654+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-03-29T13:11:56.842476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-03-29T13:11:26.549864+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-03-29T12:01:33.046336+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-03-29T12:01:33.036298+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-03-29T12:01:30.773060+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-03-29T12:01:01.531212+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-03-29T12:00:33.502907+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-03-29T12:00:07.881087+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 16357942, 32534991, 32471509; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-03-29T10:23:47.927595+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK13 as ready",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-03-29T10:23:47.917614+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-03-29T10:23:43.161186+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK13 as Green List (high evidence)",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-03-29T10:23:43.152229+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-03-29T10:23:13.522725+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK13 was added\ngene: CDK13 was added to Kabuki syndrome. Sources: Expert Review\nMode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDK13 were set to 29021403; 29393965; 30904094\nPhenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360\nReview for gene: CDK13 was set to GREEN\nAdded comment: More than 15 unrelated individuals reported, Kabuki-like. \nSources: Expert Review",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2021-03-29T08:15:46.559135+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.62",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 30322850\r\n4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)\r\nOnly W271G and the fs demonstrated reduced NOTCh signaling\r\nMutant zebrafish were evaluated for degree of malformation\r\n\r\nAssociation with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real\r\n\r\nNO association with DCM by clingen; to: CHD: PMID: 30322850\r\n4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)\r\nOnly W271G and the fs demonstrated reduced NOTCh signaling\r\nMutant zebrafish were evaluated for degree of malformation\r\n\r\nAssociation with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real\r\n\r\nNO association with DCM by clingen",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-28T20:14:04.309176+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARP7 as ready",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2021-03-28T20:14:04.297901+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: larp7 has been classified as Green List (High Evidence).",
"entity_name": "LARP7",
"entity_type": "gene"
}
]
}