HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=554",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=552",
"results": [
{
"created": "2023-09-02T13:01:06.413724+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T13:00:35.559530+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAP1B was added\ngene: RAP1B was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAP1B were set to 35451551; 32627184; 26280580\nPhenotypes for gene: RAP1B were set to Syndromic disease, MONDO:0002254, RAP1B-related\nReview for gene: RAP1B was set to AMBER\nAdded comment: PMID: 32627184 describes 2 patients.\r\n36 yo patient of non-consanguineous parents. Had unclear pancytopenia, multiple congenital malformations, mild intellectual disability, endocrine disorders (short stature with growth hormone deficiency), dysmorphism and other features. Parents and sibling unaffected.\r\n13 yo of non-consanguineous parents with thrombocytopenia, multiple congenital anomalies and learning difficulties. He had normal developmental milestones, walk was achieved at 14 months and there was no speech delay. He attended mainstream school with auxiliary help because of learning difficulties with graphism, syntaxic comprehension, logical reasoning and attention deficit. Parents and siblings unaffected.\r\n\r\nPMID: 26280580 describes another patient with variant in RAP1B. The clinical features can be found in supplementary table 2. The table lists ID, but doesn't say severity and lists a host of other features including short stature, facial dysmorphism and skeletal findings. Cytopenia is not a feature for this patient.\r\n\r\nPMID 35451551: New patient reported with mild intellectual disability, bicuspid aortic valve, dilation of aortic root and ascending aorta, hearing loss, and long‐standing thrombocytopenia with lymphopenia. Found to have a novel, missense mutation in RAP1B (p.Ala59Gly) - neighbouring amino acid to one of the previously reported variants. \nSources: Expert list",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:57:52.289854+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0C as ready",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:57:52.278632+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:57:13.800180+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V0C as Green List (high evidence)",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:57:13.791032+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:56:44.035836+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0C was added\ngene: ATP6V0C was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V0C were set to 33190975; 33090716; 36074901\nPhenotypes for gene: ATP6V0C were set to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465\nReview for gene: ATP6V0C was set to GREEN\nAdded comment: PMID:36074901 - 5 out of 27 patients had severe microcephaly (having occipitofrontal circumference (OFC) beyond 3 SD below the mean for their age). \nSources: Expert Review",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:51:32.425308+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPDL as ready",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:51:32.402979+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:47:38.398047+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPDL as Green List (high evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:47:38.386261+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:44:32.076172+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ATP5E.",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:44:04.609852+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5E as ready",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:44:04.592002+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5e has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:43:57.394175+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5E as Amber List (moderate evidence)",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:43:57.386034+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5e has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:42:13.345858+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCD3 as ready",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:42:13.336735+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcd3 has been classified as Green List (High Evidence).",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:42:08.787728+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCD3 as Green List (high evidence)",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:42:08.777228+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcd3 has been classified as Green List (High Evidence).",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:41:39.569262+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTCD3 was added\ngene: PTCD3 was added to Optic Atrophy. Sources: Expert list\nMode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTCD3 were set to 30607703; 19427859; 36450274\nPhenotypes for gene: PTCD3 were set to Combined oxidative phosphorylation deficiency-51, MIM#619057; Intellectual disability; optic atrophy; Leigh-like syndrome\nReview for gene: PTCD3 was set to GREEN\nAdded comment: Four families reported plus functional data. Optic atrophy is a feature. \nSources: Expert list",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:39:43.318535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTCD3 were set to 30607703; 19427859",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:39:17.327933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCD3 as Green List (high evidence)",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-02T12:39:17.318814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcd3 has been classified as Green List (High Evidence).",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:42:50.661909+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCD3 as ready",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:42:50.638852+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcd3 has been classified as Green List (High Evidence).",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:42:43.023797+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCD3 as Green List (high evidence)",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:42:43.015735+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcd3 has been classified as Green List (High Evidence).",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:42:11.842263+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTCD3 was added\ngene: PTCD3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTCD3 were set to 30607703; 19427859; 36450274\nPhenotypes for gene: PTCD3 were set to Combined oxidative phosphorylation deficiency-51, MIM#619057; Intellectual disability; optic atrophy; Leigh-like syndrome\nReview for gene: PTCD3 was set to GREEN\nAdded comment: Four families and functional data. ID is a feature. \nSources: Expert Review",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:40:08.711646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTCD3: Added comment: Three additional families reported.; Changed rating: GREEN; Changed publications: 30607703, 19427859, 36450274",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:38:26.470459+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTCD3 were set to 30607703; 19427859",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:37:41.836088+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCD3 as Green List (high evidence)",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:37:41.825486+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcd3 has been classified as Green List (High Evidence).",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:36:47.596235+10:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:29311636 - Founder canonical splice variant (c.2433-1G>A) reported in Greenlandic populations demonstrate higher risk of obesity and type 2 diabetes in homozygous individuals.\r\n\r\nPMID:29311637 - Four children from three consanguineous Pakistani families were reported with severe early-onset obesity and identified with three different homozygous variants in ADCY3 gene. In addition, an obese boy of European-American descent was identified with heterozygous ADCY3 variants.\r\n\r\nPMID:35026759 - Two additional heterozygous variants (c.1658C>T/ p.Ala553Val & c.489C>G/ p.His163Gln) were identified in six Qatari individuals with obesity. However, the authors of this publication struggle to draw a conclusion on the impact of the dominant effect of the variants due to the genetic and biological overlap between monogenic and the common form of obesity.; to: PMID:29311636 - Founder canonical splice variant (c.2433-1G>A) reported in Greenlandic populations demonstrate higher risk of obesity and type 2 diabetes in homozygous individuals.\r\n\r\nPMID:29311637 - Four children from three consanguineous Pakistani families were reported with severe early-onset obesity and identified with three different homozygous variants in ADCY3 gene. In addition, an obese boy of European-American descent was identified with heterozygous ADCY3 variants.\r\n\r\nPMID:35026759 - Two additional heterozygous variants (c.1658C>T/ p.Ala553Val & c.489C>G/ p.His163Gln) were identified in six Qatari individuals with obesity. However, the authors of this publication struggle to draw a conclusion on the impact of the dominant effect of the variants due to the genetic and biological overlap between monogenic and the common form of obesity.\r\n\r\nThe phenotypes of biallelic variants appear severe and early-onset. The age of patients with monoallelic variants ranged from 28 and 57 and its was not clear whether the patients had either monogenic or common form of obesity. Hence, the MOI should be set as \"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\".",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:36:28.532931+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTCD3: Added comment: Three additional families reported.; Changed rating: GREEN; Changed publications: 36450274",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:36:18.323751+10:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ADCY3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29311636, 29311637, 35026759; Phenotypes: {Obesity, susceptibility to, BMIQ19}, OMIM:617885; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:34:14.928789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRM2 were changed from MELAS-like to Mitochondrial DNA depletion syndrome 17, MIM# 618567",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:33:34.924717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRM2 as Green List (high evidence)",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:33:34.913256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrm2 has been classified as Green List (High Evidence).",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:33:15.219135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRM2: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 28973171, 36002240; Changed phenotypes: Mitochondrial DNA depletion syndrome 17, MIM# 618567",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:32:21.243940+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRM2 were changed from MELAS-like to Mitochondrial DNA depletion syndrome 17, MIM# \t618567",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:31:23.861190+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRM2 were set to 28973171",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:30:45.411089+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRM2 as Green List (high evidence)",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:30:45.399071+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrm2 has been classified as Green List (High Evidence).",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:30:06.259681+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRM2: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 28973171, 36002240",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:23:42.312941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX5A were set to 2824752",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:23:20.080949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX5A as Amber List (moderate evidence)",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:23:20.069668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:22:58.704449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COX5A: Added comment: Second family reported, albeit hmz missense.; Changed rating: AMBER; Changed publications: 35246835, 28247525",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:22:03.077370+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX5A were set to 28247525; 35246835",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2023-09-01T19:21:34.445070+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX5A were set to 28247525",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:43:10.721749+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX5A as Amber List (moderate evidence)",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:43:10.706421+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:42:31.971235+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COX5A: Added comment: Second family reported, albeit hmz missense.; Changed rating: AMBER; Changed publications: 35246835",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:39:10.671484+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCRB as ready",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:39:10.642616+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrb has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:39:02.881091+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCRB as Amber List (moderate evidence)",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:39:02.870581+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrb has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:38:53.460428+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UQCRB: Rating: AMBER; Mode of pathogenicity: None; Publications: 12709789, 25446085, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:36:32.608419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRELD1 were changed from Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217 to Developmental and epileptic encephalopathy, MONDO:0100062, CRELD1-related; Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:36:02.561386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRELD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:35:41.572177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRELD1 as Green List (high evidence)",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:35:41.558111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Green List (High Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:35:21.183069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CRELD1: Added comment: Emerging association between bi-alleic variants in CRELD1 and DEE.; Changed rating: GREEN; Changed phenotypes: Developmental and epileptic encephalopathy, MONDO:0100062, CRELD1-related, Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:34:26.797305+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRELD1 as ready",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:34:26.772045+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Green List (High Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:33:54.673696+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRELD1 as Green List (high evidence)",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:33:54.665817+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Green List (High Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:33:18.719567+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRELD1 was added\ngene: CRELD1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CRELD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRELD1 were set to Developmental and epileptic encephalopathy, MONDO:0100062, CRELD1-related\nReview for gene: CRELD1 was set to GREEN\nAdded comment: Emerging evidence of association between bi-allelic variants and DEE (>10 families). \nSources: Expert list",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:25:07.309454+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASS1 as ready",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:25:07.290437+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ass1 has been classified as Green List (High Evidence).",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:24:59.444882+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASS1 were changed from to Citrullinemia MIM#215700",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:24:15.449423+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:23:41.235028+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia MIM#215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:22:50.474932+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPA as ready",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:22:50.459213+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspa has been classified as Green List (High Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:22:45.951052+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPA were changed from to Canavan disease MIM#271900",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:22:12.306737+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:21:37.199519+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:20:49.465948+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:20:49.454329+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Green List (High Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:20:44.237030+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARX were changed from to Lissencephaly, X-linked 2, MIM# 300215",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:20:10.513361+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:19:35.942422+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked 2, MIM# 300215; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:18:41.810057+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARV1 as ready",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:18:41.791958+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arv1 has been classified as Green List (High Evidence).",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:18:35.893818+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, MIM# 617020",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:10:47.174195+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARV1 were set to ",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:10:14.475094+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:09:41.354389+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35227294, 27270415, 25558065; Phenotypes: Developmental and epileptic encephalopathy 38, MIM# 617020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:07:31.988206+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID1A as ready",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:07:31.971922+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1a has been classified as Green List (High Evidence).",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:07:28.105924+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARID1A were changed from to Coffin-Siris syndrome 2 (MIM#614607)",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:06:54.248537+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARID1A were set to ",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-09-01T18:06:20.247810+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARID1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:18:00.090869+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system",
"entity_name": "UBAP2L",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:17:33.600795+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system",
"entity_name": "UBAP2L",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:16:51.643281+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBAP2L: Changed phenotypes: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494",
"entity_name": "UBAP2L",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:16:32.552295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494",
"entity_name": "UBAP2L",
"entity_type": "gene"
},
{
"created": "2023-09-01T08:16:13.833535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBAP2L: Changed phenotypes: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494",
"entity_name": "UBAP2L",
"entity_type": "gene"
}
]
}