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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1618",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1616",
"results": [
{
"created": "2020-09-02T14:14:09.421656+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angelman syndrome MIM#105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed); Current diagnostic: yes",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-09-02T14:09:14.118546+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CHAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CHAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T14:08:42.765601+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: UFC1 was added\ngene: UFC1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UFC1 were set to 29868776\nPhenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)\nReview for gene: UFC1 was set to AMBER\ngene: UFC1 was marked as current diagnostic\nAdded comment: PMID 29868776: 8 affected individuals from 4 families reported. 7 were described to be postnatally microcephalic (at or below 3rd percentile). One was -5.1SD and one was -3.6SD. SD values for the others weren't provided.\r\n\r\nThe following head circumference measurements were provided for 6 of the affecteds:\r\n\r\n51cm at 16yo; 50cm at 19yo; 42.5cm at 12mo, 45cm at 28mo, 45.2cm at 7yo; 45cm at 4yo.\r\n\r\n3 of the families were consanguineous Saudi families with the same homozygous missense variant. \nSources: Literature",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2020-09-02T13:57:17.764082+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CENPF was added\ngene: CENPF was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CENPF were set to 25564561; 28407396; 27300082; 31953238\nPhenotypes for gene: CENPF were set to Stromme syndrome\t(MIM#243605)\nPenetrance for gene: CENPF were set to unknown\nReview for gene: CENPF was set to GREEN\nAdded comment: *Several Stromme syndrome patients reported with microcephaly however only the following were genetically confirmed.\r\n\r\nPMID: 31953238\r\n- 2 siblings from a consanguineous Saudi family\r\n- Patient 1: head circumference -3.33 SD (44cm) at 3 years and -4.4 SD (45.5cm) at 6 years\r\n- Patient 2: +5.07 SD (39.5cm) at birth and +8.99 SD (49cm) at 2 months\r\n- homozygous splice variant\r\n\r\nPMID: 28407396\r\n- 1x proband with head circumference -6.29 SD (at birth) and -7.57 SD at 18 months\r\n- homozygous fs variant\r\n\r\n PMID: 25564561;\r\n- 1x proband with OFC <0.4 centile (29.5cm) at birth and adult OFC of <0.4 centile (45.5cm)\r\n- cHet for 2x nonsense variants\r\n\r\nPMID: 27300082 ;\r\n- 1x proband with OFC <3rd centile\r\n- chet for PTVs \nSources: Literature",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2020-09-02T13:35:22.785235+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: UFM1 was added\ngene: UFM1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UFM1 were set to 28931644; 29868776; 31914610\nPhenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14 MIM#617899\nReview for gene: UFM1 was set to AMBER\ngene: UFM1 was marked as current diagnostic\nAdded comment: Summary: Only 2 variants reported in this gene, one a founder promoter variant and one a missense variant found in 2 Sudanese families (3 hets in gnomAD). All affected individuals were reported with microcephaly but measurements only provided for two. A Drosophila model supports an association of this gene with microcephaly, but it's Drosophila.\r\n\r\nPMID 28931644: Found a 3bp deletion in the promoter region of UFM1 in 16 Roma individuals with hypomyelination with atrophy of the basal ganglia and cerebellum who were negative for TUBB4A mutations. Functional studies showed an effect on gene expressin in neuronal cell lines but not other cell lines. All affected individuals had microcephaly but no measurements were provided.\r\n\r\nPMID 29868776: 4 affected individuals from 2 Sudanese families reported with the same missense variant. All four were said to have microcephaly but measurments only provided for two: Proband from family 1 had a head circumference of 40cm at 2yo; proband from family 2 had head circumference of < -4SD at 13mo.\r\n\r\nPMID 31914610: Used Drosophila embryos to show that UFM1 knockdown was associated with developmental processes that lead to microcephaly. \nSources: Literature",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-09-02T13:06:07.036460+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CENPE: Rating: RED; Mode of pathogenicity: None; Publications: 24748105, 30086807; Phenotypes: Microcephaly 13, primary, autosomal recessive (MIM#616051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T12:48:18.751331+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: None; Publications: 15689447, 19396824, 22678952, 31122804, 30928302; Phenotypes: Epileptic encephalopathy, early infantile, 2 (MIM#300672); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-09-02T12:41:37.127545+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: 26708751, 26708753, 26545877, 29572195; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-02T12:15:39.185085+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: DDX11 was added\ngene: DDX11 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDX11 were set to PMID: 31824187; 20137776; 23033317.\nPhenotypes for gene: DDX11 were set to Warsaw breakage syndrome, MIM#613398\nPenetrance for gene: DDX11 were set to Complete\nReview for gene: DDX11 was set to GREEN\nAdded comment: The cardinal clinical features observed in Warsaw breakage syndrome (WABS) patients include severe pre- and post-natal growth retardation, microcephaly, sensorineural hearing loss, cochlear anomalies, facial dysmorphia and sister chromatid cohesion defects (PMID: 31824187).\r\n\r\nA male patient with biallelic DDX11 variants (splice site and in-frame deletion) presented with several congenital abnormalities, including microcephaly, facial dysmorphy, high arched palate, coloboma of the right optic disc, deafness, small ventricular septal defect, bilateral clinodactyly of the fifth fingers, syndactyly of the second and third toes, cutis marmorata, and one hypo- and three hyperpigmented patches on the skin. Authors proposed to name the syndrome associated with defective DDX11 “Warsaw breakage syndrome” (WABS) (PMID: 20137776).\r\n\r\nThree siblings carrying a biallelic DDX11 missense variant with clinical presentation of WABS: ID, growth retardation, and severe congenital abnormalities including microcephaly, facial dysmorphism, deafness due to cochlear abnormalities (in two of the sibs), and cardiac malformations (in one of the sibs) (PMID: 23033317). \nSources: Literature",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2020-09-02T12:12:54.280876+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Mild microcephaly in some patients (OMIM)\r\n\r\nPMID: 29021403;\r\n- 15 patients, all de novo missense\r\n- OFC ranges from 50th to <0.4th centile. Only 4 patients have <0.4 centiles\r\n(includes patients reported in PMID: 27479907)\r\n\r\nPMID: 31238879;\r\n- 7 patients with likely path variants in CDK13 (ACMG was used in classifications)\r\n- 2 with microcephaly but measurements not provided; to: Mild microcephaly in some patients (OMIM)\r\n\r\nPMID: 29021403;\r\n- 15 patients, all de novo missense\r\n- OFC ranges from 50th to <0.4th centile. Only 4 patients have <0.4 centiles and 2 with 1st centile\r\n(includes patients reported in PMID: 27479907)\r\n\r\nPMID: 31238879;\r\n- 7 patients with likely path variants in CDK13 (ACMG was used in classifications)\r\n- 2 with microcephaly but measurements not provided",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-09-02T11:33:26.906224+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CDK13: Rating: AMBER; Mode of pathogenicity: None; Publications: 27479907, 29021403, 31238879; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (MIM#617360); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-09-02T11:02:47.699987+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: USP18: Rating: RED; Mode of pathogenicity: None; Publications: 27325888, 31940699; Phenotypes: Pseudo-TORCH syndrome 2 MIM#617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:50:23.243767+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CDC6 was added\ngene: CDC6 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDC6 were set to 21358632\nPhenotypes for gene: CDC6 were set to Meier-Gorlin syndrome 5\t(MIM#613805)\nPenetrance for gene: CDC6 were set to unknown\nReview for gene: CDC6 was set to RED\nAdded comment: PMID: 21358632;\r\n- 1x proband with OFC -3.3SD\r\n- homozygous for a missense\r\n\r\n*no new reports since \nSources: Literature",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:40:49.945085+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CCDC88A was added\ngene: CCDC88A was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC88A were set to 30392057; 26917597\nPhenotypes for gene: CCDC88A were set to PEHO syndrome-like\t(MIM#617507)\nPenetrance for gene: CCDC88A were set to unknown\nReview for gene: CCDC88A was set to AMBER\nAdded comment: PMID: 30392057\r\n- consanguineous Saudi family with 2 affecteds. Homozygous for a nonsense variant\r\n- microcephaly, dev delay, ID, epilepsy, dysmorphism and brain atropy\r\n- no measurements provided\r\n\r\nPMID: 26917597\r\n- consanguineous family with 3 affecteds. Homozygous fs variant\r\n- infantile hypotonia, dev delay, optic and brain atrophy, seizures and microcephaly (measurements not provided)\r\n- functional studies on KO mice \nSources: Literature",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:30:12.419131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated individuals reported.; to: Three unrelated individuals reported, all variants in exon 2 (first coding exon).",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:29:35.865727+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMNN as ready",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:29:35.850651+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmnn has been classified as Green List (High Evidence).",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:29:31.060041+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GMNN was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:29:11.863092+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GMNN as Green List (high evidence)",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:29:11.854523+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmnn has been classified as Green List (High Evidence).",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:28:49.285666+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GMNN: Changed phenotypes: Meier-Gorlin syndrome 6, MIM# 616835; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:28:33.364618+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GMNN was added\ngene: GMNN was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: GMNN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GMNN were set to 26637980\nPhenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, MIM#\t616835\nReview for gene: GMNN was set to GREEN\nAdded comment: Three unrelated individuals reported with variants in exon 2 (first coding exon) and primordial dwarfism (including microcephaly), microtia, and absent patellae. \nSources: Expert list",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:25:01.838737+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.270",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18548531; Phenotypes: Mosaic variegated aneuploidy syndrome 1 (MIM#257300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:11:56.886709+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF21B as ready",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:11:56.876551+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21b has been classified as Green List (High Evidence).",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:11:53.699776+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF21B as Green List (high evidence)",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:11:53.691725+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21b has been classified as Green List (High Evidence).",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:11:31.552285+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF21B was added\ngene: KIF21B was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF21B were set to 32415109\nPhenotypes for gene: KIF21B were set to Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly\nMode of pathogenicity for gene: KIF21B was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: KIF21B was set to GREEN\nAdded comment: Asselin et al (2020 - PMID: 32415109) report on 4 individuals with KIF21B pathogenic variants. DD/ID (borderline intellectual functioning to severe ID) was a feature in all. Variable other findings included brain malformations (CCA) and microcephaly. 3 missense variants and a 4-bp insertion were identified, in 3 cases as de novo events while in a single subject the variant was inherited from the father who was also affected. The authors provide evidence for a role of KIF21B in the regulation of processes involved in cortical development and deleterious effect of the missense variants impeding neuronal migration and kinesin autoinhibition. Phenotypes specific to variants (e.g. CCA or microcephaly) were recapitulated in animal models. Missense variants are thought to exert a gain-of-function effect. As commented on, the 4-bp duplication (/frameshift) variant might not be pathogenic. In blood sample from the respective individual, RT-qPCR analysis suggested that haploinsufficiency (NMD) applies. Although Kif21b haploinsufficiency in mice was shown to lead to impaired neuronal positioning, the gene might partially tolerate LoF variants as also suggested by 28 such variants in gnomAD. Homozygous Kif21b ko mice display severe morphological abnormalities, partial loss of commissural fibers, cognitive deficits and altered synaptic transmission (several refs to previous studies provided by the authors). \nSources: Literature",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:08:52.921713+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNND1 as ready",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:08:52.911262+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:08:47.457812+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTNND1 as Amber List (moderate evidence)",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:08:47.447994+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T10:08:17.540811+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNND1 was added\ngene: CTNND1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTNND1 were set to 28301459; 32196547\nPhenotypes for gene: CTNND1 were set to Blepharocheilodontic syndrome 2, MIM# 617681\nReview for gene: CTNND1 was set to AMBER\nAdded comment: 4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.\r\n\r\nPMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).\r\n\r\nThis more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues. Unclear from description whether significant ID present. \nSources: Literature",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:58:20.323462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNND1 as ready",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:58:20.313577+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnd1 has been classified as Green List (High Evidence).",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:57:49.373384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTNND1 were set to ",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:57:23.001417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301459; Phenotypes: Blepharocheilodontic syndrome 2, MIM# 617681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:56:07.708715+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.268",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "edited their review of gene: DHCR7: Changed rating: GREEN; Changed phenotypes: Smith-Lemli-Opitz syndrome 270400",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:55:59.384515+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.268",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR7 were set to 9634533; 12949967; 15670717; 14981719\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome\t270400\nAdded comment: 80%-84% of individuals have Microcephaly\t(https://www.ncbi.nlm.nih.gov/books/NBK1143/)\r\n\r\nMore than 200 mutations that cause Smith-Lemli-Opitz syndrome have been identified in the DHCR7 gene. (https://databases.lovd.nl/shared/genes/DHCR7) \nSources: Literature",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:54:39.152850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTNND1 were changed from to Blepharocheilodontic syndrome 2, MIM#\t617681",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:54:15.271370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTNND1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:52:37.382036+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT1 as ready",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:52:37.371476+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt1 has been classified as Green List (High Evidence).",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:52:35.135094+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT1 were changed from to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:52:05.216345+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNMT1 were set to ",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:49:57.924535+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:49:30.645745+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22328086, 21532572, 31984424; Phenotypes: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121, Neuropathy, hereditary sensory, type IE, 614116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:47:09.382754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNMT1 were set to 22328086; 21532572",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:44:01.655305+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPOR2 as ready",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:44:01.651157+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Insufficient evidence for Green rating for either MOI.",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:44:01.631337+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripor2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:43:47.325211+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIPOR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:42:22.588033+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM#\t616515 to Deafness, autosomal recessive 104, MIM#\t616515; Deafness, autosomal dominant",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:41:53.657621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM# 616515 to Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:41:39.871748+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIPOR2 were set to 24958875",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:41:12.041663+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: RIPOR2.",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:40:11.854383+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family and animal model data. \nSources: Expert list; to: Single family with bi-allelic variants and animal model data. \r\nSources: Expert list",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:40:00.202990+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RIPOR2: Added comment: PMID: 32631815 (2020) - A heterozygous 12 nucleotide in-frame deletion (c.1696_1707del, p.Gln566_Lys569del) in RIPOR2 was detected in 12 families of Dutch origin with non-syndromic hearing loss.\r\n\r\nIn total, the variant was detected in 59/63 affected participants, but also in five unaffected subjects from three family. Age of onset was highly variable, from congenital to 70 years (mean age: 30.6 years) - unaffected family members who harboured the variant were aged 23, 40, 49, 50, and 51 years, respectively. The authors speculate that the four affected subjects without the variant represent phenocopies. The presence of an identical variant in 12 families of common origin, as well as haplotype analysis, indicates a founder effect.\r\n\r\nFunctional analysis of the variant showed aberrant localisation of mutant-RIPOR2 in early postnatal mouse hair cells, ex vivo; and failure to rescue the stereocilia defects of Ripor2 knockout mice, in contrast to the rescue effect observed in cells expressing wild-type RIPOR2.; Changed publications: 24958875, 32631815; Changed phenotypes: Deafness, autosomal recessive 104, MIM# 616515, Deafness, autosomal dominant",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:38:49.056846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family and animal model data. \nSources: Expert list; to: Single family with bi-allelic variants and animal model data. \r\nSources: Expert list",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:38:21.091546+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPOR2 as ready",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:38:21.087529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Insufficient evidence for Green rating for either MOI.",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:38:21.062429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripor2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:37:12.597054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIPOR2 were set to 24958875",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:36:50.741551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIPOR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:36:36.914945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: RIPOR2.",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:32:21.915716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH3 as No list",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:32:21.905704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been removed from the panel.",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:27:44.323276+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH3 as ready",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:27:44.312601+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:27:14.904098+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.268",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: BRIP1 was added\ngene: BRIP1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J\t(MIM#609054)\nPenetrance for gene: BRIP1 were set to unknown\nReview for gene: BRIP1 was set to GREEN\nAdded comment: 75% of Fanconi anemia (FA) patients present with microcephaly and BRIP1 contributes to approx 2% of FA diagnosis (gene reviews) \nSources: Literature",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:26:57.155963+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH3 were changed from to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:26:23.877029+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH3 were set to ",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:26:03.631037+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:24:42.099490+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31960911; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:23:59.896619+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH3 as ready",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:23:59.885525+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:23:57.136536+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH3 were set to ",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T09:23:46.367955+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31960911; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:33:08.480884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TET2 were changed from to Dementia; Lymphoma/myeloid malignancy",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:32:47.377132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TET2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:32:33.613414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TET2 were set to ",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:30:04.633169+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TET2 as ready",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:30:04.617239+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tet2 has been classified as Red List (Low Evidence).",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:29:55.709341+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TET2 was added\ngene: TET2 was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: TET2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TET2 were set to 32330418; 31943063\nPhenotypes for gene: TET2 were set to Dementia\nReview for gene: TET2 was set to RED\nAdded comment: Association study (PMID 32330418) found enrichment of non-coding and LoF TET2 variants in cohort of individuals with early onset dementia, unclear if this is monogenic or polygenic contribution. PMID: 31943063 - Li et al 2020 - functional studies in mice show that Tet2 depletion in the hippocampus exacerbates Alzheimer disease pathology and cognitive dysfunction at early disease stages. \nSources: Literature",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:27:55.735233+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TET2: Changed phenotypes: Dementia, Lymphoma/myeloid malignancy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:24:49.094814+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFYVE19 as ready",
"entity_name": "ZFYVE19",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:24:49.083842+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfyve19 has been classified as Green List (High Evidence).",
"entity_name": "ZFYVE19",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:24:44.406246+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFYVE19 as Green List (high evidence)",
"entity_name": "ZFYVE19",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:24:44.397963+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfyve19 has been classified as Green List (High Evidence).",
"entity_name": "ZFYVE19",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:24:18.943431+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFYVE19 was added\ngene: ZFYVE19 was added to Cholestasis. Sources: Literature\nMode of inheritance for gene: ZFYVE19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE19 were set to 32737136\nPhenotypes for gene: ZFYVE19 were set to Cholestasis\nReview for gene: ZFYVE19 was set to GREEN\nAdded comment: PMID: 32737136 (2020) - Nine Han Chinese children from seven families with biallelic, predicted complete LoF variants in ZFYVE19. All patients had high-GGT intrahepatic cholestasis, portal hypertension, and histopathological features of the ductal plate malformation/congenital hepatic fibrosis. ZFYVE19 depletion in cultured cells from one patient yielded centriolar and axonemal abnormalities, and immunostaining for two ciliary proteins DCDC2 and ACALT showed abnormal localisation in patient cholangiocytes, indicating this as a novel ciliopathy disorder. \nSources: Literature",
"entity_name": "ZFYVE19",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:23:41.740180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFYVE19 as ready",
"entity_name": "ZFYVE19",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:23:41.731794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfyve19 has been classified as Green List (High Evidence).",
"entity_name": "ZFYVE19",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:22:47.631341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFYVE19 as Green List (high evidence)",
"entity_name": "ZFYVE19",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:22:47.621551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfyve19 has been classified as Green List (High Evidence).",
"entity_name": "ZFYVE19",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:20:38.356704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPM7 were changed from {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500 to {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500; Cardiac arrhythmia, stillbirth",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:20:11.811463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPM7 were set to ",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:19:46.971634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPM7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:19:30.300830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM7 as Amber List (moderate evidence)",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:19:30.291921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-09-02T08:19:11.859457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRPM7: Added comment: Ion channel expressed in the nervous and cardiac systems. The variant associated with ALS/dementia in the Guam population, p.Thr1482Ile is present in >23,000 hets in gnomad, which is out of keeping for a rare Mendelian disorder. Note recent publication associating missense variants with cardiac arrhythmia and stillbirth, with some functional data provided to substantiate effect of variant on protein function but not necessarily establish gene-disease association.; Changed rating: AMBER; Changed publications: 32503408, 31423533; Changed phenotypes: {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500, Cardiac arrhythmia, stillbirth; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPM7",
"entity_type": "gene"
}
]
}