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{
"count": 220466,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=964",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=962",
"results": [
{
"created": "2022-02-28T17:13:23.977486+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZNHIT3 as Green List (high evidence)",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:13:23.966666+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4288",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Green List (High Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:13:14.388515+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4287",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ZNHIT3 was added\ngene: ZNHIT3 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNHIT3 were set to PMID: 28335020; 28335020; 31048081\nPhenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565\nReview for gene: ZNHIT3 was set to GREEN\nAdded comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model. \nSources: Expert list",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:08:11.590582+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4286",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: GON7: Changed rating: GREEN",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:06:20.599484+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APC2 as ready",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:06:20.588751+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apc2 has been classified as Green List (High Evidence).",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:06:15.468389+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APC2 as Green List (high evidence)",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:06:15.456026+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apc2 has been classified as Green List (High Evidence).",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:06:02.932868+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 10, MIM#618677; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:04:07.565065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C7orf43 as ready",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:04:07.547948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c7orf43 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:04:01.254301+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C7orf43.",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:03:52.482518+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C7orf43 as Amber List (moderate evidence)",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:03:52.471265+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c7orf43 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:03:26.078438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRIP as ready",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:03:26.057436+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrip has been classified as Red List (Low Evidence).",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:03:21.181127+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATRIP as Red List (low evidence)",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:03:21.169383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrip has been classified as Red List (Low Evidence).",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:02:55.675086+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP9A as ready",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:02:55.662703+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:02:49.899007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP9A as Amber List (moderate evidence)",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:02:49.885845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:02:26.503958+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARPC4 as ready",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:02:26.493021+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arpc4 has been classified as Red List (Low Evidence).",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:02:20.771517+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARPC4 as Red List (low evidence)",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:02:20.758538+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arpc4 has been classified as Red List (Low Evidence).",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:01:57.935046+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKLE2 as ready",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:01:57.925909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankle2 has been classified as Green List (High Evidence).",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:01:52.399528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKLE2 as Green List (high evidence)",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:01:52.387766+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankle2 has been classified as Green List (High Evidence).",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:01:26.478865+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGMO as ready",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2022-02-28T17:01:26.467601+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agmo has been classified as Red List (Low Evidence).",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:59:52.072293+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGMO as Red List (low evidence)",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:59:52.055648+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agmo has been classified as Red List (Low Evidence).",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:59:21.704217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADD3 as ready",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:59:21.681274+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add3 has been classified as Red List (Low Evidence).",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:59:02.028888+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADD3 as Red List (low evidence)",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:59:02.016139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add3 has been classified as Red List (Low Evidence).",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:57:36.713985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADD3: Changed rating: GREEN",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:56:34.435800+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADARB1 as ready",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:56:34.424521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adarb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:56:28.703891+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADARB1 as Amber List (moderate evidence)",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:56:28.693289+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adarb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:55:22.345865+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN2 as ready",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:55:22.330560+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen2 has been classified as Green List (High Evidence).",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:54:38.399766+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: D2HGDH as ready",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:54:38.389165+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: d2hgdh has been classified as Green List (High Evidence).",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:54:34.855338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: D2HGDH were changed from to D-2-hydroxyglutaric aciduria, MIM# 600721",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:54:03.047922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: D2HGDH as Green List (high evidence)",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:54:03.033429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: d2hgdh has been classified as Green List (High Evidence).",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:53:50.737382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria, MIM# 600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:50:01.719633+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4275",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HEXB was added\ngene: HEXB was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEXB were set to 23046579; 24613245; 33407268; 27697305; 11869411; 33363784\nPhenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms-MIM#268800\nReview for gene: HEXB was set to RED\nAdded comment: Biallelic variants associated with Sandhoff disease which includes a severe, infantile onset form. Authors of reported cases note normal antenatal and immediate postnatal course with onset of phenotypic features generally from 2 months of age onwards. Note subset with cardiomyopathy and secondary valvular incompetence, not congenital heart defects. \nSources: Literature",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:46:02.557878+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: GTPBP2 was added\ngene: GTPBP2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP2 were set to 26675814; 29449720; 30790272\nPhenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome\tMIM#617988\nReview for gene: GTPBP2 was set to GREEN\ngene: GTPBP2 was marked as current diagnostic\nAdded comment: Nine individuals from six unrelated families\r\n\r\nmicrocephaly noted but measurements at birth not provided. \r\n1x weight 5th percentile and OFC 25-50 percentile\r\n\r\nscoliosis consistently reported\r\nOther features include clenched hands, talipes, abnormal brain imaging, pectus excavatum \nSources: Literature",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:43:12.761678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: MCF2 was added\ngene: MCF2 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MCF2 were set to 31846234\nPhenotypes for gene: MCF2 were set to Perisylvian polymicrogyria\nReview for gene: MCF2 was set to RED\nAdded comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model. \nSources: Expert list",
"entity_name": "MCF2",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:37:49.481706+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: MAN2C1 was added\ngene: MAN2C1 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2C1 were set to 35045343\nPhenotypes for gene: MAN2C1 were set to MAN2C1-related neurodevelopmental disorder MONDO:0700092\nReview for gene: MAN2C1 was set to GREEN\nAdded comment: Six individuals from four different families, including two fetuses, exhibiting dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Variants include PTC and missense.\r\n*3 unrelated individuals presented polymicrogyria \nSources: Expert list",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:36:56.824986+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "commented on gene: B3GNT2",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:33:58.451918+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: INTS8 was added\ngene: INTS8 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS8 were set to 28542170\nPhenotypes for gene: INTS8 were set to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (MIM#618572)\nReview for gene: INTS8 was set to RED\nAdded comment: Single family with three affected sibs with compound het INTS8 variants, Microcephaly, Cerebellar hypoplasia, Nodular heterotopia. Some functional evidence. \nSources: Expert list",
"entity_name": "INTS8",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:22:50.664608+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: GRM7 was added\ngene: GRM7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRM7 were set to 32286009; 32248644\nPhenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities\tMIM#618922\nReview for gene: GRM7 was set to GREEN\ngene: GRM7 was marked as current diagnostic\nAdded comment: progressive/post-natal microcephaly consistently reported\r\n\r\n6 families with 11 affecteds\r\n5 of the pregnancies were complicated by polyhydramnios/decreased fetal movements \nSources: Literature",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:16:34.042813+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: ERMARD was added\ngene: ERMARD was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: ERMARD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERMARD were set to 27087860; 24056535\nPhenotypes for gene: ERMARD were set to Periventricular nodular heterotopia 6 (MIM#615544)\nReview for gene: ERMARD was set to RED\nAdded comment: Single individual described with heterozygous ERMARD missense and periventricular nodular heterotopia, developmental delay and epilepsy.\r\n\r\nPMID: 27087860. Fetus was diagnosed by prenatal ultrasound with symmetric bilateral ventriculomegaly. The fetus carried a 0.78-Mb deletion of chromosomal region 6q27 (ERMARD included). \nSources: Expert list",
"entity_name": "ERMARD",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:15:33.497366+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: GPT2 was added\ngene: GPT2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPT2 were set to 25758935; 27601654; 28130718; 29226631; 29882329; 31471722\nPhenotypes for gene: GPT2 were set to Neurodevelopmental disorder with microcephaly and spastic paraplegia MIM#616281\nReview for gene: GPT2 was set to RED\ngene: GPT2 was marked as current diagnostic\nAdded comment: post-natal microcephaly\r\n\r\nof note;\r\n1x family where fisting was observed in a 4 yr old\r\n1x adducted thumbs and scoliosis\r\na handful had reduced white matter volume and/or thin corpus callosum \nSources: Literature",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:05:38.509656+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: GON7: Changed rating: AMBER",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2022-02-28T16:02:37.682426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: GON7 was added\ngene: GON7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GON7 were set to 31481669\nPhenotypes for gene: GON7 were set to Galloway-Mowat syndrome 9, MIM# 619603\nReview for gene: GON7 was set to GREEN\ngene: GON7 was marked as current diagnostic\nAdded comment: 11 individuals from 5 families. Four of the families had the same homozygous variant, shared haplotype suggestive of founder effect. \r\n\r\npost-natal microcephaly and brain malformations such as cerebellar atrophy, atrophic/thin corpus callosum. Cranial imaging done as young as 6 months. \r\n\r\nMaybe detectable antenatally \nSources: Literature",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2022-02-28T15:51:44.900843+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: EOMES was added\ngene: EOMES was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: EOMES was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EOMES were set to 17353897\nPhenotypes for gene: EOMES were set to microcephaly; polymicrogyria; corpus callosum agenesis\nReview for gene: EOMES was set to RED\nAdded comment: Single family with homozygous balanced translocation between chromosomes 3p and 10q affecting EOMES. \nSources: Expert list",
"entity_name": "EOMES",
"entity_type": "gene"
},
{
"created": "2022-02-28T15:36:43.684279+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: GOLGA2: Changed phenotypes: neuromuscular disease, GOLGA2-related MONDO#0019056",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2022-02-28T15:35:47.162924+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: GOLGA2 was added\ngene: GOLGA2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GOLGA2 were set to 34424553; 26742501; 30237576\nReview for gene: GOLGA2 was set to GREEN\ngene: GOLGA2 was marked as current diagnostic\nAdded comment: 3x unrelated families\r\n\r\n1x noted with a smaller head at birth head circumference 32.5 cm (7th percentile). weight 3.22 kg (37th percentile), length 49.5 cm (53rd percentile) \r\n\r\nNonspecific cerebral volume loss / cortical atrophy with delayed myelination and thin corpus callosum reported in all post-natally. Maybe detectable antenatally \nSources: Literature",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2022-02-28T15:34:01.393556+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "commented on gene: APC2: Youngest affected was 3 months however, 31585108 indicated All affected children were born full term without any complications during pregnancy and delivery.",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T15:21:27.385058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: ENO1 was added\ngene: ENO1 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ENO1 were set to 32488097\nPhenotypes for gene: ENO1 were set to Polymicrogyria; microcephaly\nReview for gene: ENO1 was set to RED\nAdded comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2. \nSources: Expert list",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:47:37.253092+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: CEP85L was added\ngene: CEP85L was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CEP85L were set to 32097630\nPhenotypes for gene: CEP85L were set to Lissencephaly 10, posterior predominant (MIM618873)\nReview for gene: CEP85L was set to RED\nAdded comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects. Earliest symptom onset 5 months, most develop seizures after several years. \nSources: Expert list",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:42:31.020963+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HEXA was added\ngene: HEXA was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXA were set to Tay-Sachs disease - MIM#272800\nReview for gene: HEXA was set to RED\nAdded comment: Associated features not reported prenatally or at birth. \nSources: Literature",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:39:44.450494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: FOXR1 was added\ngene: FOXR1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXR1 were set to 34723967\nPhenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay\nReview for gene: FOXR1 was set to AMBER\ngene: FOXR1 was marked as current diagnostic\nAdded comment: 1 individual with functional studies done for the specific variant\r\n\r\npost-natal microcephaly with progressive brain atrophy from 1 yr onwards \nSources: Literature",
"entity_name": "FOXR1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:30:58.151618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HERC1 was added\ngene: HERC1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HERC1 were set to 28323226; 27108999; 26153217; 26138117\nPhenotypes for gene: HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation - MIM#617011\nReview for gene: HERC1 was set to GREEN\nAdded comment: Multiple individuals reported with macrosomia and macrocephaly detected at birth. \nSources: Literature",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:30:26.669204+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: FDXR was added\ngene: FDXR was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FDXR were set to 30250212; 28965846\nPhenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, MIM# 617717\nReview for gene: FDXR was set to RED\ngene: FDXR was marked as current diagnostic\nAdded comment: Bi-allelic variants in FDXR cause an autosomal recessive neurologic disorder characterised by onset of visual and hearing impairment in the first or second decades. Two individuals described with a more severe phenotype, including one with microcephaly. \nSources: Literature",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:27:26.803788+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: CDK5 was added\ngene: CDK5 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK5 were set to 25560765\nPhenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia (MIM#616342)\nReview for gene: CDK5 was set to RED\nAdded comment: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent. Head circumference at the low-normal range (5th–25th percentile). \nSources: Literature",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:25:32.554692+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: EXOC7: Changed publications: 32103185; Changed phenotypes: Neurodevelopmental disorder with seizures and brain atrophy MIM#619072",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:25:22.907753+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: EXOC7 was added\ngene: EXOC7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXOC7 were set to Neurodevelopmental disorder with seizures and brain atrophy\tMIM#619072\nReview for gene: EXOC7 was set to GREEN\ngene: EXOC7 was marked as current diagnostic\nAdded comment: 4 families with 8 affected individuals with brain atrophy, seizures, and developmental delay, and in more severe cases microcephaly and infantile death. Four novel homozygous or comp.heterozygous variants found in EXOC7, which segregated with disease in the families. \nSources: Literature",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:21:08.021236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: DYNC1I2 was added\ngene: DYNC1I2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DYNC1I2 were set to 31079899\nPhenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492\nReview for gene: DYNC1I2 was set to GREEN\ngene: DYNC1I2 was marked as current diagnostic\nAdded comment: 5 affecteds from 3 families\r\n\r\n1x microcephaly at birth and head ultrasound at 2 months detected absent corpus callosum. Furthermore, abrain MRI revealed the absence of the rostrum and genu ofthe corpus callosum and partial absence of the splenium,as well as absence of the septum pellucidum and megacisterna magna.\r\n\r\n1x microcephaly at birth (-2 SD). Brain MRI at 3 months of age re-vealed a hypoplastic corpus callosum, prominent ventri-cles, reduced white matter volume, and simplified gyralpattern \nSources: Literature",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:20:21.480401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FIBP was added\ngene: FIBP was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FIBP were set to 27183861; 26660953\nPhenotypes for gene: FIBP were set to Thauvin-Robinet-Faivre syndrome - MIM#617107\nReview for gene: FIBP was set to AMBER\nAdded comment: Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor.\r\n\r\n2 unrelated families reported.\r\n\r\n27183861 - report one family with 3 affected children. Prenatally relevant phenotypic features include:\r\n- congenital heart disease in one child\r\n- preterm delivery and bilateral talipes equinovarus 2nd child\r\n- cystic kidney disease, nephromegaly and polyhydramnios 3rd child\r\n\r\n26660953 - report one child with ventricular septal defect, mitral valve prolapse, renal malrotation with left bifid ureter, macrocephaly and macrosomia noted at birth. \nSources: Literature",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:19:03.380391+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: B3GNT2 was added\ngene: B3GNT2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: B3GNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GNT2 were set to 23359570; 23877401\nPhenotypes for gene: B3GNT2 were set to Walker-Warburg syndrome\nReview for gene: B3GNT2 was set to AMBER\nAdded comment: Only 2 families reported\r\n\r\nPMID: 23877401. Homozygous frameshift in B3GNT1 identified in a proband born with occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis.\r\n\r\nPMID: 23359570. Family with two homozygous B3GNT1 missense in affected. 4 pregnancies with abnormalities identified by ultrasound, including: hydrocephalus with the lateral ventricles, severe cerebral ventriculomegaly, cystic dysplastic kidney \nSources: Literature",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:12:57.100938+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CTNNA2 was added\ngene: CTNNA2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTNNA2 were set to 30013181\nPhenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174\nReview for gene: CTNNA2 was set to GREEN\ngene: CTNNA2 was marked as current diagnostic\nAdded comment: acquired microcephaly. Pachygyria is also a feature, which can be detectable in a prenatal MRI, though none of the reports thus far were diagnosed antenatally\r\n\r\n3 families with 7 affecteds \nSources: Literature",
"entity_name": "CTNNA2",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:11:28.484769+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DICER1 was added\ngene: DICER1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DICER1 were set to 27960159; 29343557; 26227654; 33208384; 35114704; 31232238; 24676357\nPhenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic\t- MIM#618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - MIM#138800; Pleuropulmonary blastoma - MIM#601200\nReview for gene: DICER1 was set to GREEN\nAdded comment: Heterozygous pathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic somatic missense DICER1 variants in the RNase IIIb domain are linked to GLOW syndrome (global developmental delay, lung cysts, overgrowth, and Wilms’ tumor) syndrome. While the DICER1 syndrome is classically caused by frameshift, nonsense or other mutations that ablate DICER1 function in a true heterozygous state, GLOW-syndrome mutations occur at specific residues within the RNase IIIb domain that only affect the function of this domain. \r\n\r\nBoth syndromes have been reported to have features that can be detected prenatally.\r\n\r\nPMID 33208384 - report a patient with heterozygous germline DICER1 variant. The patient was born at gestational week 39 after a difficult delivery due to macrocephaly. Clinical findings at birth included two blood vessels in the umbilical cord, undescended testis, inguinal hernia, postaxial polydactyly, ear pits and rocker bottom feet. \r\n\r\nPMID: 34331184 - report 4 unrelated families with germline DICER1 variants. In family 1 - one child was born with Pierre Robin sequence, shortening of the left arm and leg and bilateral\r\nhip dysplasia. In Family 2 a child had macrosomia and macrocephaly at birth. Family 4 - born at 33 weeks, dysmorphic facies including hypertelorism and macroglossia.\r\n\r\nPMID 24676357 - report 2 unrelated children with GLOW syndrome. Patient 1 was noted to have enlarged kidneys on 24 week ultrasound. At birth was found to have renal and pulmonary cysts. Patient 2 - macrocephaly was noted at birth.\r\n\r\nDICER1 implicated in ~60% of PPB - reports of PPB detecteed antenatally, although no reports in the context of confirmed DICER1 syndrome. \nSources: Literature",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:03:36.283537+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLGALT1 as ready",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:03:36.272364+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colgalt1 has been classified as Green List (High Evidence).",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:03:32.327129+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLGALT1 were changed from to Brain small vessel disease 3, MIM# 618360",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:03:16.929479+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLGALT1 were set to ",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:02:55.756130+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COLGALT1: Changed publications: 30412317, 33709034, 31759980",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:02:39.362130+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: COLGALT1: 3 unrelated cases with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy, lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. A null mouse model was embryonic lethal, but had defects in the vascular networks of the embryos.",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:02:07.807811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COLGALT1 as Green List (high evidence)",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:02:07.797472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colgalt1 has been classified as Green List (High Evidence).",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:01:56.954973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COLGALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 3, MIM# 618360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLGALT1",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:00:55.713359+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2orf69 as ready",
"entity_name": "C2orf69",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:00:55.694430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2orf69 has been classified as Green List (High Evidence).",
"entity_name": "C2orf69",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:00:47.144713+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C2orf69 were changed from to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423",
"entity_name": "C2orf69",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:00:34.809779+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C2orf69 as Green List (high evidence)",
"entity_name": "C2orf69",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:00:34.800208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2orf69 has been classified as Green List (High Evidence).",
"entity_name": "C2orf69",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:00:22.568299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C2orf69",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:59:24.584461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABHD16A as ready",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:59:24.572371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:59:21.156581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD16A were changed from to Spastic paraplegia 86, autosomal recessive, MIM# 619735",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:59:06.631395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABHD16A as Green List (high evidence)",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:59:06.616999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
}
]
}