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=1196",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1194",
"results": [
{
"created": "2021-10-04T11:56:48.480314+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30388402; Phenotypes: Macrocephaly, acquired, with impaired intellectual development, MIM#618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:55:52.183824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDN as ready",
"entity_name": "NDN",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:55:52.170722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndn has been classified as Red List (Low Evidence).",
"entity_name": "NDN",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:55:44.156845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDN were changed from to Prader-Willi syndrome, MIM# 176270",
"entity_name": "NDN",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:55:27.143419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NDN",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:55:10.854223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDN as Red List (low evidence)",
"entity_name": "NDN",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:55:10.844801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndn has been classified as Red List (Low Evidence).",
"entity_name": "NDN",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:54:52.426814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Prader-Willi syndrome, MIM# 176270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NDN",
"entity_type": "gene"
},
{
"created": "2021-10-04T11:53:38.781048+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDN were changed from to Prader-Willi syndrome, MIM#\t176270",
"entity_name": "NDN",
"entity_type": "gene"
},
{
"created": "2021-10-04T10:30:43.431147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFIB as ready",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T10:30:43.415161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfib has been classified as Green List (High Evidence).",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T10:30:35.025768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFIB were changed from to Macrocephaly, acquired, with impaired intellectual development, MIM#618286",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T10:30:15.549781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFIB were set to ",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T10:29:58.441218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NFIB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T10:29:39.290329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: NFIB.",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-04T10:29:28.154135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30388402; Phenotypes: Macrocephaly, acquired, with impaired intellectual development, MIM#618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2021-10-03T18:51:01.412859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF407 were changed from Global developmental delay; Intellectual disability to SIMHA syndrome, MIM# 619557; Global developmental delay; Intellectual disability",
"entity_name": "ZNF407",
"entity_type": "gene"
},
{
"created": "2021-10-03T18:50:43.163947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZNF407: Changed phenotypes: SIMHA syndrome, MIM# 619557, Global developmental delay, Intellectual disability",
"entity_name": "ZNF407",
"entity_type": "gene"
},
{
"created": "2021-10-03T18:50:24.004890+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF407 were changed from Global developmental delay; Intellectual disability to SIMHA syndrome, MIM# 619557; Global developmental delay; Intellectual disability",
"entity_name": "ZNF407",
"entity_type": "gene"
},
{
"created": "2021-10-03T18:49:45.478767+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZNF407: Changed rating: AMBER; Changed phenotypes: SIMHA syndrome, MIM# 619557; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF407",
"entity_type": "gene"
},
{
"created": "2021-10-03T18:16:40.573064+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF113A as ready",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T18:16:40.562902+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Green List (High Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T18:16:35.308351+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF113A as Green List (high evidence)",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T18:16:35.298634+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Green List (High Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T18:16:28.463982+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNF113A was added\ngene: RNF113A was added to Growth failure. Sources: Expert Review\nMode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RNF113A were set to 25612912; 31793730; 31880405\nPhenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953\nReview for gene: RNF113A was set to GREEN\nAdded comment: Four families reported, two with same variant. Clinical features include ID, microcephaly, IUGR/growth failure, hypogonadism, and sparse/brittle hair. One of the families had antenatal presentation. \nSources: Expert Review",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:58:58.959557+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF113A as ready",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:58:58.949532+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Green List (High Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:58:55.906726+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF113A as Green List (high evidence)",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:58:55.896334+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Green List (High Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:58:05.825750+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNF113A was added\ngene: RNF113A was added to Chromosome Breakage Disorders. Sources: Expert Review\nMode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RNF113A were set to 25612912; 31793730; 31880405\nPhenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953\nReview for gene: RNF113A was set to GREEN\nAdded comment: Four families reported, two with same variant. Clinical features include ID, microcephaly, IUGR/growth failure, hypogonadism, and sparse/brittle hair. \nSources: Expert Review",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:53:39.428104+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNF113A: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:53:19.393828+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNF113A were set to 25612912; 31793730",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:53:02.039414+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF113A as Green List (high evidence)",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:53:02.027810+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Green List (High Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:52:02.371920+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNF113A: Added comment: Two more individuals reported with different variants, at least one had microcephaly, upgrade to Green.; Changed rating: GREEN; Changed publications: 25612912, 31793730, 31880405",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:06:15.199671+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNF113A were set to PMID: 25612912; 31793730",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:05:42.973567+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF113A as Green List (high evidence)",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:05:42.959788+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Green List (High Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:05:17.434982+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM #300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-03T09:02:47.429712+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNF113A was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:28:57.523132+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:28:57.513916+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Green List (High Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:28:44.283267+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD7 were set to ",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:28:23.834251+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 18834967; Phenotypes: Hypogonadotropic hypogonadism 5 with or without anosmia, MIM# 612370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:24:59.581142+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF3F were changed from EIF3F-related neurodevelopmental disorder to EIF3F-related neurodevelopmental disorder; Mental retardation, autosomal recessive 67, MIM# 618295",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:24:26.523125+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF3F: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 67, MIM# 618295; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:24:05.481252+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF3F as ready",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:24:05.470843+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3f has been classified as Green List (High Evidence).",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:23:41.598981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF3F were set to 30409806",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:23:22.507477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EIF3F: Added comment: Hüffmeier et al (2021) reported 21 patients who were homozygous/compound heterozygous for Phe232Val variant in EIF3F. All affected individuals had developmental delay and speech delay. About half had behavioural problems, altered muscular tone, hearing loss, and short stature. The study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum.; Changed publications: 30409806, 33736665; Changed phenotypes: Mental retardation, autosomal recessive 67, MIM# 618295",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:22:39.868827+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF3F as ready",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:22:39.854474+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3f has been classified as Green List (High Evidence).",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:22:37.219650+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF3F were changed from EIF3F-related neurodevelopmental disorder to EIF3F-related neurodevelopmental disorder; Mental retardation, autosomal recessive 67, MIM#\t618295",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T18:17:55.065335+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF3F were set to 30409806",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T15:06:13.968995+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.55",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EIF3F as Green List (high evidence)",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T15:06:13.958957+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.55",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: eif3f has been classified as Green List (High Evidence).",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T15:05:50.274588+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.54",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EIF3F was added\ngene: EIF3F was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF3F were set to PMID: 33736665\nPhenotypes for gene: EIF3F were set to EIF3F-related neurodevelopmental disorder\nReview for gene: EIF3F was set to GREEN\nAdded comment: Hüffmeier et al (2021) reported 21 patients who were homozygous/compound heterozygous for Phe232Val variant in EIF3F. All affected individuals had developmental delay and speech delay. About half had behavioural problems, altered muscular tone, hearing loss, and short stature. The study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. \nSources: Literature",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T15:04:47.206074+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.141",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EIF3F as Green List (high evidence)",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T15:04:47.196143+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.141",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: eif3f has been classified as Green List (High Evidence).",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T15:04:39.358398+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.140",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EIF3F was added\ngene: EIF3F was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF3F were set to PMID: 33736665\nPhenotypes for gene: EIF3F were set to EIF3F-related neurodevelopmental disorder\nReview for gene: EIF3F was set to GREEN\nAdded comment: Hüffmeier et al (2021) reported 21 patients who were homozygous/compound heterozygous for Phe232Val variant in EIF3F. All affected individuals had developmental delay and speech delay. About half had behavioural problems, altered muscular tone, hearing loss, and short stature. The study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. \nSources: Literature",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T15:03:00.755492+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4154",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: EIF3F: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33736665; Phenotypes: EIF3F-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2021-10-01T10:04:33.833118+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2A as ready",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-10-01T10:04:33.828506+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Short stature is a feature.",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-10-01T10:04:33.793488+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-10-01T10:04:10.438056+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2A were set to PubMed: 22795537, 25810209, 29574747, 33783954",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-10-01T09:14:30.279381+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KMT2A as Green List (high evidence)",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-10-01T09:14:30.268824+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-10-01T09:14:17.443793+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KMT2A was added\ngene: KMT2A was added to Growth failure. Sources: Literature\nMode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2A were set to PubMed: 22795537, 25810209, 29574747, 33783954\nPhenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome; OMIM #605130\nReview for gene: KMT2A was set to GREEN\nAdded comment: Wiedemann-Steiner syndrome is a congenital malformation syndrome characteriSed by hypertrichosis cubiti/back, short stature/growth retardation, mild to moderate intellectual disability; behavioral difficulties, and dysmorphism (long eyelashes, thick/arched eyebrows with lateral flare, broad nasal bridge, and downslanting and vertically narrow palpebral fissures). Many patients reported in the literature. \nSources: Literature",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:51:09.240699+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFN2 as ready",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:51:09.225460+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Red List (Low Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:51:04.727478+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFN2 as Red List (low evidence)",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:51:04.717082+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Red List (Low Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:49:37.027455+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMHD1 as ready",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:49:37.017057+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:49:18.466116+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2C as ready",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:49:18.457481+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2c has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:48:59.628760+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2A as ready",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:48:59.619967+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2a has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:48:38.789298+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2B as ready",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:48:38.778536+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:48:35.795137+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2B were set to PMID: 17846997, 28762473",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:47:41.064345+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREX1 as ready",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:47:41.049872+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:47:37.553380+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TREX1 were set to PMID: 17846997, 33528536",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:46:04.081802+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAF1 as ready",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:46:04.069510+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf1 has been classified as Green List (High Evidence).",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:45:59.961991+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAF1 were set to PMID: 26637982, 33528536, 17273961",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:44:28.567022+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTAN1 as ready",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:44:28.557271+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Green List (High Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:44:24.710726+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTAN1 were set to PMID: 20493457, 33528536, 34364746",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:42:43.677528+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZSWIM6 as ready",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2021-10-01T08:42:43.667768+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim6 has been classified as Green List (High Evidence).",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2021-09-30T23:01:32.790907+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SAMHD1 as Green List (high evidence)",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2021-09-30T23:01:32.781999+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2021-09-30T23:00:48.684274+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.180",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SAMHD1 was added\ngene: SAMHD1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SAMHD1 were set to PMID: 19525956\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5; OMIM #612952\nReview for gene: SAMHD1 was set to GREEN\nAdded comment: Aicardi-Goutieres syndrome is characterised by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic CSF lymphocytosis, and increased CSF alpha-interferon, and neurologic dysfunction (progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation), and often death in early childhood.\r\n\r\nRice et al. (2009) reported biallelic SAMHD1 mutations in 13 families with AGS. \nSources: Literature",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2021-09-30T22:04:31.738710+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.179",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNASEH2C as Green List (high evidence)",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2021-09-30T22:04:31.728452+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.179",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnaseh2c has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2021-09-30T22:02:47.565513+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.178",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RNASEH2C was added\ngene: RNASEH2C was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2C were set to PMID: 17846997\nPhenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3; OMIM #610329\nReview for gene: RNASEH2C was set to GREEN\nAdded comment: Aicardi-Goutieres syndrome is characterised by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic CSF lymphocytosis, and increased CSF alpha-interferon, and neurologic dysfunction (progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation), and often death in early childhood.\r\n\r\nRice et al. (2007) reported biallelic RNASEH2C mutations in 18 families with AGS. \nSources: Literature",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2021-09-30T21:58:31.734498+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNASEH2A as Green List (high evidence)",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2021-09-30T21:58:31.725849+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnaseh2a has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2A",
"entity_type": "gene"
}
]
}