{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=839","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=837","results":[{"created":"2022-05-16T11:59:55.644276+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14342","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: GRIN2D were set to ","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2022-05-16T11:59:51.791928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14342","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: GRIN2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2022-05-16T11:59:35.573028+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14341","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616483, 30280376; Phenotypes: Developmental and epileptic encephalopathy 46 617162; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2022-05-16T11:29:16.766074+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14341","user_name":"Abhijit Kulkarni","item_type":"entity","text":"reviewed gene: ASPN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 25689697; Mode of inheritance: None","entity_name":"ASPN","entity_type":"gene"},{"created":"2022-05-16T11:18:24.423295+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14341","user_name":"Abhijit Kulkarni","item_type":"entity","text":"reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34459021, 28646613; Phenotypes: Epidermodysplasia verruciformis 2  (MIM: 61831); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMC8","entity_type":"gene"},{"created":"2022-05-16T10:46:24.529482+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.2","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MECOM as Green List (high evidence)","entity_name":"MECOM","entity_type":"gene"},{"created":"2022-05-16T10:46:24.516990+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.2","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mecom has been classified as Green List (High Evidence).","entity_name":"MECOM","entity_type":"gene"},{"created":"2022-05-16T10:45:59.966478+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.2","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MECOM as Green List (high evidence)","entity_name":"MECOM","entity_type":"gene"},{"created":"2022-05-16T10:45:59.954178+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.2","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mecom has been classified as Green List (High Evidence).","entity_name":"MECOM","entity_type":"gene"},{"created":"2022-05-16T10:45:25.842230+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.1","user_name":"Chirag Patel","item_type":"entity","text":"gene: MECOM was added\ngene: MECOM was added to Radial Ray Abnormalities. Sources: Literature\nMode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MECOM were set to PMID: 35219593, 26581901, 29519864\nPhenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738; Radioulnar synostosis without hematological aberration, no OMIM #\nReview for gene: MECOM was set to GREEN\nAdded comment: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2\r\n-Multiple affected families reported\r\n\r\nRadioulnar synostosis (RUS) without hematological aberration\r\n-8 families with RUS and no identifiable hematological abnormalities\r\n-WES identified unique missense variants in MECOM\r\n-6 families had variants in residue R781, 2 other variants included I783T and Q777E. All variants clustered within the ninth zinc finger motif of EVI1.\r\n-Functional experiments showed that MECOM R781C led to alterations in TGF-β–mediated transcriptional responses. \nSources: Literature","entity_name":"MECOM","entity_type":"gene"},{"created":"2022-05-16T10:44:33.054463+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.176","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MECOM as Green List (high evidence)","entity_name":"MECOM","entity_type":"gene"},{"created":"2022-05-16T10:44:33.044043+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.176","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mecom has been classified as Green List (High Evidence).","entity_name":"MECOM","entity_type":"gene"},{"created":"2022-05-16T10:43:52.143392+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.175","user_name":"Chirag Patel","item_type":"entity","text":"gene: MECOM was added\ngene: MECOM was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MECOM were set to PMID: 35219593, 26581901, 29519864\nPhenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738; Radioulnar synostosis without hematological aberration, no OMIM #\nReview for gene: MECOM was set to GREEN\nAdded comment: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2\r\n-Multiple affected families reported\r\n\r\nRadioulnar synostosis (RUS) without hematological aberration\r\n-8 families with RUS and no identifiable hematological abnormalities\r\n-WES identified unique missense variants in MECOM\r\n-6 families had variants in residue R781, 2 other variants included I783T and Q777E. All variants clustered within the ninth zinc finger motif of EVI1. \r\n-Functional experiments showed that MECOM R781C led to alterations in TGF-β–mediated transcriptional responses. \nSources: Literature","entity_name":"MECOM","entity_type":"gene"},{"created":"2022-05-16T10:39:29.214436+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14341","user_name":"Abhijit Kulkarni","item_type":"entity","text":"reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: renal dysplasia, cystic, susceptibility to; Mode of inheritance: None","entity_name":"BICC1","entity_type":"gene"},{"created":"2022-05-16T10:23:26.891971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14341","user_name":"Abhijit Kulkarni","item_type":"entity","text":"reviewed gene: ARV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35227294, 27270415, 25558065; Phenotypes: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 ( MIM:61720) Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARV1","entity_type":"gene"},{"created":"2022-05-16T10:12:12.633627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14341","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-05-16T10:01:34.362446+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.446","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ADD1 as Green List (high evidence)","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-16T10:01:34.350644+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.446","user_name":"Chirag Patel","item_type":"entity","text":"Gene: add1 has been classified as Green List (High Evidence).","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-16T10:01:10.279074+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.446","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ADD1 as Green List (high evidence)","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-16T10:01:10.258534+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.446","user_name":"Chirag Patel","item_type":"entity","text":"Gene: add1 has been classified as Green List (High Evidence).","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-16T10:01:09.248069+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4777","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ADD1 as Green List (high evidence)","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-16T10:01:09.219855+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4777","user_name":"Chirag Patel","item_type":"entity","text":"Gene: add1 has been classified as Green List (High Evidence).","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-16T10:00:46.629555+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4777","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ADD1 as Green List (high evidence)","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-16T10:00:46.620091+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4777","user_name":"Chirag Patel","item_type":"entity","text":"Gene: add1 has been classified as Green List (High Evidence).","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-16T10:00:37.151505+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.445","user_name":"Chirag Patel","item_type":"entity","text":"gene: ADD1 was added\ngene: ADD1 was added to Callosome. Sources: Literature\nMode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ADD1 were set to PMID: 34906466\nPhenotypes for gene: ADD1 were set to Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #\nReview for gene: ADD1 was set to GREEN\nAdded comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown \nSources: Literature","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-16T09:58:48.093943+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4776","user_name":"Chirag Patel","item_type":"entity","text":"gene: ADD1 was added\ngene: ADD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ADD1 were set to PMID: 34906466\nPhenotypes for gene: ADD1 were set to Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #\nReview for gene: ADD1 was set to GREEN\nAdded comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit.  Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown. \nSources: Literature","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-16T09:41:25.764563+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4775","user_name":"Chirag Patel","item_type":"entity","text":"gene: PROSER1 was added\ngene: PROSER1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PROSER1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PROSER1 were set to PMID: 35229282\nPhenotypes for gene: PROSER1 were set to Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM #\nReview for gene: PROSER1 was set to RED\nAdded comment: 4 children from 3 related families with developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, genitourinary malformations, and common facial features (arched eyebrows, prominent eyes, broad nasal bridge, low-hanging columella, open mouth, thick lower lip, protruding tongue, large low-set ears, and parietal bossing). WES revealed a homozygous frame-shift variant (p.Thr612Glnfs*22) in PROSER1. This encodes the proline and serine rich protein 1, part of the histone methyltransferases KMT2C/KMT2D complexes. PROSER1 stabilizes TET2, a member of the TET family of DNA demethylases which is involved in recruiting the enhancer-associated KMT2C/KMT2D complexes and mediating DNA demethylation, activating gene expression. Therefore, PROSER1 may play vital and potentially general roles in gene regulation. No functional assays and 3 related families. \nSources: Literature","entity_name":"PROSER1","entity_type":"gene"},{"created":"2022-05-16T09:31:17.474971+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.297","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SPATA22 as Amber List (moderate evidence)","entity_name":"SPATA22","entity_type":"gene"},{"created":"2022-05-16T09:31:17.461293+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.297","user_name":"Chirag Patel","item_type":"entity","text":"Gene: spata22 has been classified as Amber List (Moderate Evidence).","entity_name":"SPATA22","entity_type":"gene"},{"created":"2022-05-16T09:29:51.407005+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.296","user_name":"Chirag Patel","item_type":"entity","text":"gene: SPATA22 was added\ngene: SPATA22 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: SPATA22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA22 were set to PMID: 35285020\nPhenotypes for gene: SPATA22 were set to Premature ovarian insufficiency and nonobstructive azoospermia, no OMIM #\nReview for gene: SPATA22 was set to AMBER\nAdded comment: 1 consanguineous family with two  premature ovarian insufficiency (POI) and two nonobstructive azoospermia (NOA) patients. WES identified a homozygous variant in SPATA22 (c.400C>T:p.R134X). Histological analysis and spermatocyte spreading assay demonstrated that the spermatogenesis was arrested at a zygotene-like stage in the proband with NOA. \r\n\r\n2nd patient found with idiopathic POI and compound heterozygous variants in SPATA22 (c.900+1G>A and c.31C>T:p.R11X). \nSources: Literature","entity_name":"SPATA22","entity_type":"gene"},{"created":"2022-05-16T09:26:55.784066+10:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.2","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SOX2 as Green List (high evidence)","entity_name":"SOX2","entity_type":"gene"},{"created":"2022-05-16T09:26:55.772312+10:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.2","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sox2 has been classified as Green List (High Evidence).","entity_name":"SOX2","entity_type":"gene"},{"created":"2022-05-16T09:26:14.043341+10:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.1","user_name":"Chirag Patel","item_type":"entity","text":"gene: SOX2 was added\ngene: SOX2 was added to Eye Anterior Segment Abnormalities. Sources: Literature\nMode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX2 were set to PMID: 35170016\nPhenotypes for gene: SOX2 were set to Peters' anomaly, no OMIM #; Microphthalmia, syndromic 3, OMIM # 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, OMIM # 206900\nReview for gene: SOX2 was set to GREEN\nAdded comment: Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Microarray/WES/WGS in 95 individuals with PA found 4 unrelated patients with PA (isolated or with microphthalmia) with pathogenic variants in SOX2 gene. \nSources: Literature","entity_name":"SOX2","entity_type":"gene"},{"created":"2022-05-16T09:19:13.652442+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.195","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RDH11 as Amber List (moderate evidence)","entity_name":"RDH11","entity_type":"gene"},{"created":"2022-05-16T09:19:13.641515+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.195","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rdh11 has been classified as Amber List (Moderate Evidence).","entity_name":"RDH11","entity_type":"gene"},{"created":"2022-05-16T09:18:29.631907+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.194","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: RDH11: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34988992; Phenotypes: ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM # 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RDH11","entity_type":"gene"},{"created":"2022-05-16T09:13:56.452723+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.29","user_name":"Chirag Patel","item_type":"entity","text":"gene: USP14 was added\ngene: USP14 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP14 were set to PMID: 35066879\nPhenotypes for gene: USP14 were set to Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #\nReview for gene: USP14 was set to RED\nAdded comment: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay. \nSources: Literature","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-16T09:13:18.594684+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.342","user_name":"Chirag Patel","item_type":"entity","text":"gene: USP14 was added\ngene: USP14 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP14 were set to PMID: 35066879\nPhenotypes for gene: USP14 were set to Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #\nReview for gene: USP14 was set to RED\nAdded comment: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay. \nSources: Literature","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-16T09:12:28.040004+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.444","user_name":"Chirag Patel","item_type":"entity","text":"gene: USP14 was added\ngene: USP14 was added to Callosome. Sources: Literature\nMode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP14 were set to PMID: 35066879\nPhenotypes for gene: USP14 were set to Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #\nReview for gene: USP14 was set to RED\nAdded comment: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay. \nSources: Literature","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-15T21:12:23.829066+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14341","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UGT1A1 as ready","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2022-05-15T21:12:23.819342+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14341","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ugt1a1 has been classified as Green List (High Evidence).","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2022-05-15T21:12:14.725218+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14341","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UGT1A1 were changed from  to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I 218800; Crigler-Najjar syndrome, type II 606785","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2022-05-15T21:11:51.179248+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14340","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UGT1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2022-05-15T21:11:09.261772+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14339","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UNC13D as ready","entity_name":"UNC13D","entity_type":"gene"},{"created":"2022-05-15T21:11:09.245963+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc13d has been classified as Green List (High Evidence).","entity_name":"UNC13D","entity_type":"gene"},{"created":"2022-05-15T21:10:23.222893+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14339","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UNG as ready","entity_name":"UNG","entity_type":"gene"},{"created":"2022-05-15T21:10:23.207440+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ung has been classified as Green List (High Evidence).","entity_name":"UNG","entity_type":"gene"},{"created":"2022-05-15T21:10:14.262678+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14339","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNG were changed from  to Immunodeficiency with hyper IgM, type 5, MIM#608106","entity_name":"UNG","entity_type":"gene"},{"created":"2022-05-15T21:09:48.635353+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14338","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UNG were set to ","entity_name":"UNG","entity_type":"gene"},{"created":"2022-05-15T21:08:53.536195+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14337","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UQCC2 as ready","entity_name":"UQCC2","entity_type":"gene"},{"created":"2022-05-15T21:08:53.521549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14337","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uqcc2 has been classified as Green List (High Evidence).","entity_name":"UQCC2","entity_type":"gene"},{"created":"2022-05-15T21:08:44.197693+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14337","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UQCC2 were changed from  to Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824","entity_name":"UQCC2","entity_type":"gene"},{"created":"2022-05-15T21:08:18.318441+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14336","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UQCC2 were set to ","entity_name":"UQCC2","entity_type":"gene"},{"created":"2022-05-15T21:07:54.943666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14335","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UQCC2","entity_type":"gene"},{"created":"2022-05-15T21:07:13.438371+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14334","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UQCRB as ready","entity_name":"UQCRB","entity_type":"gene"},{"created":"2022-05-15T21:07:13.427489+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14334","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uqcrb has been classified as Green List (High Evidence).","entity_name":"UQCRB","entity_type":"gene"},{"created":"2022-05-15T21:06:53.197712+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14334","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UQCRB were changed from  to Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158","entity_name":"UQCRB","entity_type":"gene"},{"created":"2022-05-15T21:06:32.336969+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14333","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UQCRB were set to ","entity_name":"UQCRB","entity_type":"gene"},{"created":"2022-05-15T21:06:10.579044+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14332","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UQCRB","entity_type":"gene"},{"created":"2022-05-15T21:05:23.188201+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14331","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UROD as ready","entity_name":"UROD","entity_type":"gene"},{"created":"2022-05-15T21:05:23.175073+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: urod has been classified as Green List (High Evidence).","entity_name":"UROD","entity_type":"gene"},{"created":"2022-05-15T21:04:57.684412+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14331","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UROD were changed from  to Porphyria cutanea tarda; Porphyria, hepatoerythropoietic (MIM#176100)","entity_name":"UROD","entity_type":"gene"},{"created":"2022-05-15T21:04:33.987027+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14330","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UROD were set to ","entity_name":"UROD","entity_type":"gene"},{"created":"2022-05-15T21:04:13.065659+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14329","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UROD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"UROD","entity_type":"gene"},{"created":"2022-05-15T20:52:25.776568+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14328","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAGED2 as ready","entity_name":"MAGED2","entity_type":"gene"},{"created":"2022-05-15T20:52:25.763864+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14328","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: maged2 has been classified as Green List (High Evidence).","entity_name":"MAGED2","entity_type":"gene"},{"created":"2022-05-15T20:52:16.624515+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14328","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAGED2 were changed from  to Bartter syndrome, type 5, antenatal, transient, MIM# 300971","entity_name":"MAGED2","entity_type":"gene"},{"created":"2022-05-15T20:51:50.221215+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14327","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAGED2 were set to ","entity_name":"MAGED2","entity_type":"gene"},{"created":"2022-05-15T20:51:26.072135+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14326","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAGED2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MAGED2","entity_type":"gene"},{"created":"2022-05-15T20:49:45.111739+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14325","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120771; Phenotypes: Bartter syndrome, type 5, antenatal, transient, MIM# 300971; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MAGED2","entity_type":"gene"},{"created":"2022-05-15T20:41:40.906756+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14325","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPS2 as ready","entity_name":"MRPS2","entity_type":"gene"},{"created":"2022-05-15T20:41:40.879964+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14325","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps2 has been classified as Green List (High Evidence).","entity_name":"MRPS2","entity_type":"gene"},{"created":"2022-05-15T20:41:30.785496+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.807","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRPS2 were set to 29576219","entity_name":"MRPS2","entity_type":"gene"},{"created":"2022-05-15T20:41:21.761205+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14325","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS2 were changed from  to Combined oxidative phosphorylation deficiency 36, MIM# 617950","entity_name":"MRPS2","entity_type":"gene"},{"created":"2022-05-15T20:40:56.525542+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14324","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRPS2 were set to ","entity_name":"MRPS2","entity_type":"gene"},{"created":"2022-05-15T20:40:45.895162+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.806","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: MRPS2: PMID 34991560: third family.","entity_name":"MRPS2","entity_type":"gene"},{"created":"2022-05-15T20:40:29.060970+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.806","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPS2: Changed publications: 29576219, 34991560","entity_name":"MRPS2","entity_type":"gene"},{"created":"2022-05-15T20:40:21.098981+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14323","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS2","entity_type":"gene"},{"created":"2022-05-15T20:39:46.952194+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14322","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576219, 34991560; Phenotypes: Combined oxidative phosphorylation deficiency 36, MIM# 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS2","entity_type":"gene"},{"created":"2022-05-15T20:37:08.348804+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14322","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSH3 as ready","entity_name":"MSH3","entity_type":"gene"},{"created":"2022-05-15T20:37:08.335730+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msh3 has been classified as Green List (High Evidence).","entity_name":"MSH3","entity_type":"gene"},{"created":"2022-05-15T20:36:59.315536+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14322","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSH3 were changed from  to Familial adenomatous polyposis 4 , MIM#617100","entity_name":"MSH3","entity_type":"gene"},{"created":"2022-05-15T20:36:37.022072+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14321","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MSH3 were set to ","entity_name":"MSH3","entity_type":"gene"},{"created":"2022-05-15T20:36:09.924722+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14320","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MSH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSH3","entity_type":"gene"},{"created":"2022-05-15T20:35:48.338425+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14319","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MSH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476653, 10706084, 34843512; Phenotypes: Familial adenomatous polyposis 4 , MIM#617100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSH3","entity_type":"gene"},{"created":"2022-05-15T20:31:49.347326+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14319","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSRB3 as ready","entity_name":"MSRB3","entity_type":"gene"},{"created":"2022-05-15T20:31:49.334960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14319","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msrb3 has been classified as Green List (High Evidence).","entity_name":"MSRB3","entity_type":"gene"},{"created":"2022-05-15T20:31:39.500439+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14319","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSRB3 were changed from  to Deafness, autosomal recessive 74, MIM# 613718","entity_name":"MSRB3","entity_type":"gene"},{"created":"2022-05-15T20:31:18.649601+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14318","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MSRB3 were set to ","entity_name":"MSRB3","entity_type":"gene"},{"created":"2022-05-15T20:30:54.529608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14317","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MSRB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSRB3","entity_type":"gene"},{"created":"2022-05-15T20:30:35.665520+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14316","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MSRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19650862, 24191262, 21185009; Phenotypes: Deafness, autosomal recessive 74, MIM# 613718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSRB3","entity_type":"gene"},{"created":"2022-05-15T20:30:11.711274+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MSRB3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSRB3","entity_type":"gene"},{"created":"2022-05-15T20:30:04.561992+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MSRB3: Changed rating: GREEN","entity_name":"MSRB3","entity_type":"gene"},{"created":"2022-05-15T16:34:49.184187+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14316","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTAP as ready","entity_name":"MTAP","entity_type":"gene"},{"created":"2022-05-15T16:34:49.172166+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14316","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtap has been classified as Amber List (Moderate Evidence).","entity_name":"MTAP","entity_type":"gene"},{"created":"2022-05-15T16:34:34.618577+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTAP as ready","entity_name":"MTAP","entity_type":"gene"},{"created":"2022-05-15T16:34:34.600900+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtap has been classified as Amber List (Moderate Evidence).","entity_name":"MTAP","entity_type":"gene"},{"created":"2022-05-15T16:34:31.292339+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTAP were changed from Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250 to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250","entity_name":"MTAP","entity_type":"gene"},{"created":"2022-05-15T16:34:06.900764+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTAP were set to ","entity_name":"MTAP","entity_type":"gene"},{"created":"2022-05-15T16:30:01.659038+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MTAP as Amber List (moderate evidence)","entity_name":"MTAP","entity_type":"gene"}]}