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{
"count": 220403,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=949",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=947",
"results": [
{
"created": "2022-03-03T16:03:23.777822+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRF1 as ready",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:03:23.767860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brf1 has been classified as Green List (High Evidence).",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:03:14.843511+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRF1 as Green List (high evidence)",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:03:14.831544+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brf1 has been classified as Green List (High Evidence).",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:02:40.927418+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT74 as ready",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:02:40.912467+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Green List (High Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:02:32.188461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT74 were changed from ?Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582 to Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:02:20.153450+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT74 as Green List (high evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:02:20.143476+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Green List (High Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:02:16.396621+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4707",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: BRF1 was added\ngene: BRF1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRF1 were set to 25561519; 25561519; 27748960\nPhenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome - MIM#616202\nReview for gene: BRF1 was set to GREEN\nAdded comment: Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia.\r\n\r\nAt least 5 unrelated families and a zebrafish model. \nSources: Literature",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:01:42.134291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM149B1 as ready",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:01:42.123052+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam149b1 has been classified as Green List (High Evidence).",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:01:37.001982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM149B1 as Green List (high evidence)",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:01:36.988663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam149b1 has been classified as Green List (High Evidence).",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:01:02.193132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC28B as ready",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:01:02.180912+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc28b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:00:57.832457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC28B were changed from Joubert syndrome to Joubert syndrome, MONDO:0018772",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:00:22.020555+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC28B as Amber List (moderate evidence)",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2022-03-03T16:00:21.997911+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc28b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2022-03-03T15:59:46.949993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL3 as ready",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2022-03-03T15:59:46.938856+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl3 has been classified as Green List (High Evidence).",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2022-03-03T15:57:26.597241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARL3 as Green List (high evidence)",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2022-03-03T15:57:26.585623+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl3 has been classified as Green List (High Evidence).",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2022-03-03T15:56:42.684437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4703",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-03-03T15:55:13.384804+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MTX2 was added\ngene: MTX2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTX2 were set to 32917887\nPhenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome - MIM#619127\nReview for gene: MTX2 was set to GREEN\nAdded comment: Biallelic variants associated with severe progeroid form of MAD \nSources: Literature",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2022-03-03T15:21:17.388771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TMEM218 was added\ngene: TMEM218 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM218 were set to 33791682; 25161209\nPhenotypes for gene: TMEM218 were set to Joubert syndrome 39 - MIM#619562\nReview for gene: TMEM218 was set to GREEN\nAdded comment: Associated with Jouberty syndrome. Occipital encephalocele reported in 5 fetuses. \nSources: Literature",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-03T15:17:47.359899+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NID1 was added\ngene: NID1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NID1 were set to 23674478; 25558065; 12480912; 30773799\nPhenotypes for gene: NID1 were set to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures\nReview for gene: NID1 was set to GREEN\nAdded comment: No OMIM gene disease association. Monoallelic variants associated with brain anomalies including hydrocephalus, Dandy Walker malformation and occipital cephalocele.\r\n- \nSources: Literature",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2022-03-03T15:10:14.204480+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KIAA0556 was added\ngene: KIAA0556 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0556 were set to 26714646; 27245168\nPhenotypes for gene: KIAA0556 were set to Joubert syndrome 26 - MIM#616784\nReview for gene: KIAA0556 was set to GREEN\nAdded comment: Associated with Joubert syndrome.\r\n\r\n5 individuals from two families reported, supportive mouse model.\r\n\r\nNew HGNC approved name is KATNIP. \nSources: Literature",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2022-03-03T15:05:46.767854+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: IFT74 was added\ngene: IFT74 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to 33531668; 27486776; 32144365\nPhenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582\nReview for gene: IFT74 was set to GREEN\nAdded comment: Biallelic variants associated with both Joubert and Bardet-Biedl syndrome phenotype - multiple congenital anomalies reported. \nSources: Literature",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2022-03-03T15:02:15.833676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FAM149B1 was added\ngene: FAM149B1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM149B1 were set to 30905400\nPhenotypes for gene: FAM149B1 were set to Joubert syndrome 36 - MIM#618763\nReview for gene: FAM149B1 was set to GREEN\nAdded comment: Biallelic variants associated with Joubert syndrome in 4 unrelated families. Reported characteristics in published cases includes macrocephaly, mesoaxial polydactyly and cleft lip \nSources: Literature",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:56:57.432886+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CCDC28B was added\ngene: CCDC28B was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC28B were set to 32139166\nPhenotypes for gene: CCDC28B were set to Joubert syndrome\nReview for gene: CCDC28B was set to AMBER\nAdded comment: No new publications since last PanelApp review May 2020\r\n\r\n---\r\n\r\nPMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers. Knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia 430C-T variant is postulated to be a modifier of BBS. \nSources: Literature",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:54:15.213955+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ARL3 was added\ngene: ARL3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL3 were set to 30269812; 16565502\nPhenotypes for gene: ARL3 were set to Joubert syndrome 35- MIM#618161\nReview for gene: ARL3 was set to GREEN\nAdded comment: Associated with Joubert syndrome with antenatally detectable features including renal and brain anomalies \nSources: Literature",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:45:13.895490+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MORC2 as ready",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:45:13.879863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: morc2 has been classified as Red List (Low Evidence).",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:45:01.492307+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MORC2 as Red List (low evidence)",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:45:01.479940+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: morc2 has been classified as Red List (Low Evidence).",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:44:25.646677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MINPP1 as ready",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:44:25.634632+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:39:05.471922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MINPP1 as Green List (high evidence)",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:39:05.461631+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:32:56.261287+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4700",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MORC2 was added\ngene: MORC2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MORC2 were set to 32693025\nPhenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy - MIM#619090\nReview for gene: MORC2 was set to RED\nAdded comment: No new publications since last PanelApp review Dec 2020. No antenatal features reported.\r\n\r\n---\r\n\r\nMORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL. \nSources: Literature",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:32:43.521681+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCAPD2 as ready",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:32:43.510508+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncapd2 has been classified as Green List (High Evidence).",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:32:38.649018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCAPD2 as Green List (high evidence)",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:32:38.636711+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncapd2 has been classified as Green List (High Evidence).",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:19:41.198790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4699",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MINPP1 was added\ngene: MINPP1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MINPP1 were set to 33257696; 33168985\nPhenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16 - MIM#619527\nReview for gene: MINPP1 was set to GREEN\nAdded comment: Biallelic LoF variants associated with pontocerebellar hypoplasia. Early-onset progressive microcephaly is a phenotypic feature with one affected individual reported to have prenatal evidence of microcephaly associated with increased thalami echogenicity (PMID 33257696) \nSources: Literature",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:00:47.045662+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCAPD2 was added\ngene: NCAPD2 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCAPD2 were set to 31056748; 27737959; 28097321\nPhenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive; OMIM #617983\nReview for gene: NCAPD2 was set to GREEN\nAdded comment: Three families reported: 1 family with 2 sibs with microcephaly and ID, and homozygous NCAPD2 mutation, which segregated with disease. No functional evidence. 1 family with 1 affected and homozygous NCAPD2 mutation, which segregated with disease. Patient fibroblasts showed impaired chromosome segregation and abnormal recovery from mitotic condensation compared to controls. 1 family with 2 sibs with microcephaly, growth retardation, and ID, and homozygous NCAPD2 mutation, which segregated with disease. Functional studies of the variants and studies of patient cells were not performed.\r\n\r\nIUGR reported. \nSources: Expert Review",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:56:01.433681+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSRP1 as ready",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:56:01.422213+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:55:51.748814+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSRP1 as Green List (high evidence)",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:55:51.737505+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsrp1 has been classified as Green List (High Evidence).",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:55:40.509676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSRP1 was added\ngene: NSRP1 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSRP1 were set to 34385670\nPhenotypes for gene: NSRP1 were set to Neurodevelopmental disorder, MONDO:0700092, NSRP1-related; Epilepsy; Cerebral palsy; microcephaly; Intellectual disability\nReview for gene: NSRP1 was set to GREEN\nAdded comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy. \r\n\r\nStructural brain abnormalities. \nSources: Expert Review",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:55:07.474645+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSRP1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, NSRP1-related, Epilepsy, Cerebral palsy, microcephaly, Intellectual disability",
"entity_name": "NSRP1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:52:30.256757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUF2 as ready",
"entity_name": "NUF2",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:52:30.244863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nuf2 has been classified as Red List (Low Evidence).",
"entity_name": "NUF2",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:52:21.859957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUF2 was added\ngene: NUF2 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: NUF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NUF2 were set to 33721060\nPhenotypes for gene: NUF2 were set to Syndromic disease, MONDO:0002254; microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect\nReview for gene: NUF2 was set to RED\nAdded comment: PMID: 33721060 - de novo missense variant identified in one male patient with microcephaly and short stature, with additional features, such as bilateral vocal cord paralysis, micrognathia and atrial septal defect. \nSources: Expert Review",
"entity_name": "NUF2",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:50:28.982054+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP188 as ready",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:50:28.972642+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Green List (High Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:50:23.370280+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP188 as Green List (high evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:50:23.361146+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Green List (High Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:50:12.353984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP188 was added\ngene: NUP188 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP188 were set to 32021605; 28726809; 32275884\nPhenotypes for gene: NUP188 were set to Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities\nReview for gene: NUP188 was set to GREEN\nAdded comment: 8 unrelated individuals reported. \nSources: Expert Review",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:47:41.430518+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP85 as ready",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:47:41.420506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup85 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:47:30.284888+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP85 as Amber List (moderate evidence)",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:47:30.274126+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup85 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:47:17.318702+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP85 was added\ngene: NUP85 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP85 were set to 34170319\nPhenotypes for gene: NUP85 were set to Microcephaly, MONDO:0001149, NUP85-related\nReview for gene: NUP85 was set to AMBER\nAdded comment: PMID: 34170319 - Ravindran et al 2021 report two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS. In the first family, a 9 yo female, with consanguineous parents, is reported to have a missense variant in NUP85 (c.932G > A; p.R311Q). Intrauterine growth restriction was noticed. At birth microcephaly was observed (OFC < 3rd centile, < −3.6 SD) as well as hypotrophy [weight −2.8 SD), length 45 cm (−2.7 SD), both <3rd centile], facial dysmorphism, syndactyly, long and thin fingers, and bilateral pes adductus. She has severe developmental delay with strongly delayed motor milestones and absent speech. Drug-resistant, genetic epilepsy with focal-onset seizures started in the first year of life. She had no clinical, laboratory or radiological findings indicative of kidney dysfunction. In the second family, compound heterozygous missense variants in NUP85 were detected (c.1109A > G, c.1589 T > C;p.N370S, p.M530T ) in a fetus. MRI of the fetal brain at 24 + 2 GW indicated complete agenesis of the corpus callosum, abnormal sulcation in the left frontal lobe, nodularity of the frontal horn and trigone with focal puckering of the left lateral ventricle. \r\n\r\nVariants in this gene are also associated with nephrotic syndrome. \nSources: Expert Review",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:42:55.355071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS7 as ready",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:42:55.344158+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:42:33.265476+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PUS7 as Amber List (moderate evidence)",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:42:33.256680+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:42:13.716730+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PUS7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM #618342; Mode of inheritance: None",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:39:42.210992+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN23 as ready",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:39:42.189092+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn23 has been classified as Green List (High Evidence).",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:39:37.176313+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPN23 as Green List (high evidence)",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:39:37.163087+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn23 has been classified as Green List (High Evidence).",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:06:04.849653+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4689",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PUS7 was added\ngene: PUS7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS7 were set to 30526862; 30778726; 31583274\nPhenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342\nReview for gene: PUS7 was set to RED\ngene: PUS7 was marked as current diagnostic\nAdded comment: Onset at infancy\r\n\r\n11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease. \nSources: Literature",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:04:40.733833+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRIM1 as ready",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:04:40.722134+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:04:13.528504+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRIM1 as Amber List (moderate evidence)",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:04:13.507924+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:02:31.689888+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R15B as ready",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:02:31.678832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:02:24.888225+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R15B as Amber List (moderate evidence)",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:02:24.878671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:01:33.884676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPIL1 as ready",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:01:33.874077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:00:30.608652+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPIL1 as Green List (high evidence)",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:00:30.588198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:54:57.393007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4686",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PTPN23 was added\ngene: PTPN23 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPN23 were set to 31395947; 29899372; 29090338; 27848944; 25558065\nPhenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890\nReview for gene: PTPN23 was set to GREEN\ngene: PTPN23 was marked as current diagnostic\nAdded comment: Onset at birth or early infancy.\r\n\r\nOver 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum. \nSources: Literature",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:49:47.614213+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4686",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PRIM1 was added\ngene: PRIM1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRIM1 were set to 33060134\nPhenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950\nReview for gene: PRIM1 was set to AMBER\ngene: PRIM1 was marked as current diagnostic\nAdded comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).\r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \nSources: Literature",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:45:41.127956+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4686",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PPP1R15B was added\ngene: PPP1R15B was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP1R15B were set to 26159176; 26307080; 27640355\nPhenotypes for gene: PPP1R15B were set to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817\nReview for gene: PPP1R15B was set to AMBER\ngene: PPP1R15B was marked as current diagnostic\nAdded comment: Three unrelated families reported, two with the same variant. Phenotype in family reported in PMID 27640355 included infantile cirrhosis requiring transplantation. \nSources: Literature",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:32:47.171102+11:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.0",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: RECQL was added\ngene: RECQL was added to Photosensitivity Syndromes. Sources: Literature\nMode of inheritance for gene: RECQL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RECQL were set to PMID: 35025765\nPhenotypes for gene: RECQL were set to Photosensitivity; facial dysmorphism; xeropthalmia; skeletal abnormalities\nReview for gene: RECQL was set to AMBER\nAdded comment: PMID: 35025765\r\n- Homozygous missense variants identified in two seemingly unrelated families with genome instability disorder. Both families had the same missense variant. Phenotype was progeriod facial features, skin photosensitivity, xeroderma, and slender elongated thumbs. \nSources: Literature",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:20:07.401409+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AL117258.1 as ready",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:20:07.391435+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: al117258.1 has been classified as Green List (High Evidence).",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:20:04.587442+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.111",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:19:44.137905+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.110",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CPSF3 as Green List (high evidence)",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:19:44.127675+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.110",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cpsf3 has been classified as Green List (High Evidence).",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:19:35.745536+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4686",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PPIL1 was added\ngene: PPIL1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures\nReview for gene: PPIL1 was set to GREEN\ngene: PPIL1 was marked as current diagnostic\nAdded comment: The patients presented at birth with severe microcephaly (-2 to -6 SD), which progressed postnatally (-4 to -8 SD)\r\n\r\n17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:19:23.173485+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.110",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CPSF3 were changed from Intellectual disability syndrome to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:19:14.905759+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AL117258.1 were changed from Heterotaxy, MONDO:0018677; congenital heart defects to Heterotaxy, MONDO:0018677; congenital heart defects",
"entity_name": "AL117258.1",
"entity_type": "gene"
}
]
}