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Fetal anomalies v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
Fetal anomalies v0.0 RSPRY1 Zornitza Stark gene: RSPRY1 was added
gene: RSPRY1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA
Fetal anomalies v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary 612650
Fetal anomalies v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary 612649
Fetal anomalies v0.0 RRAS2 Zornitza Stark gene: RRAS2 was added
gene: RRAS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12, MONDO:0032839; Noonan syndrome 12, OMIM:618624
Fetal anomalies v0.0 RRAS Zornitza Stark gene: RRAS was added
gene: RRAS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME
Fetal anomalies v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, MONDO:0012939; Diamond-Blackfan anemia 8, OMIM:612563
Fetal anomalies v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, OMIM:610629; Diamond-Blackfan anemia 3, MONDO:0012529
Fetal anomalies v0.0 RPS23 Zornitza Stark gene: RPS23 was added
gene: RPS23 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features
Fetal anomalies v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, OMIM:612528; Diamond-Blackfan anemia 5, MONDO:0012925
Fetal anomalies v0.0 RPL10 Zornitza Stark gene: RPL10 was added
gene: RPL10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPL10 were set to Intellectual disability, X-linked, syndromic, 35, MONDO:0030908; Mental retardation, X-linked, syndromic, 35, OMIM:300998
Fetal anomalies v0.0 RORA Zornitza Stark gene: RORA was added
gene: RORA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RORA were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 ROBO3 Zornitza Stark gene: ROBO3 was added
gene: ROBO3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790; Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313
Fetal anomalies v0.0 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT
Fetal anomalies v0.0 RLIM Zornitza Stark gene: RLIM was added
gene: RLIM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 RIN2 Zornitza Stark gene: RIN2 was added
gene: RIN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
Fetal anomalies v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, OMIM:612015; RFT1-CDG, MONDO:0012783
Fetal anomalies v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RBM10 were set to Tarp syndrome, MONDO:0010711; TARP syndrome, OMIM:311900
Fetal anomalies v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2, MONDO:0011715; Seckel syndrome 2, OMIM:606744
Fetal anomalies v0.0 RAD51C Zornitza Stark gene: RAD51C was added
gene: RAD51C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0
Fetal anomalies v0.0 RAD51 Zornitza Stark gene: RAD51 was added
gene: RAD51 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2
Fetal anomalies v0.0 RAB33B Zornitza Stark gene: RAB33B was added
gene: RAB33B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2, OMIM:615222; Smith-McCort dysplasia 2, MONDO:0014087
Fetal anomalies v0.0 RAB11B Zornitza Stark gene: RAB11B was added
gene: RAB11B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability
Fetal anomalies v0.0 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY
Fetal anomalies v0.0 PYROXD1 Zornitza Stark gene: PYROXD1 was added
gene: PYROXD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Fetal anomalies v0.0 PYGM Zornitza Stark gene: PYGM was added
gene: PYGM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to Glycogen storage disease V, MONDO:0009293; McArdle disease, OMIM:232600
Fetal anomalies v0.0 PYCR2 Zornitza Stark gene: PYCR2 was added
gene: PYCR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME
Fetal anomalies v0.0 PXDN Zornitza Stark gene: PXDN was added
gene: PXDN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA
Fetal anomalies v0.0 PTPN14 Zornitza Stark gene: PTPN14 was added
gene: PTPN14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPN14 were set to Lymphedema-posterior choanal atresia syndrome, MONDO:0013324; Choanal atresia and lymphedema, OMIM:613611
Fetal anomalies v0.0 PTH Zornitza Stark gene: PTH was added
gene: PTH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM
Fetal anomalies v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 25152457; 31903955
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MONDO:0014466; Neu-Laxova syndrome 2, OMIM:616038
Fetal anomalies v0.0 PRUNE1 Zornitza Stark gene: PRUNE1 was added
gene: PRUNE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRUNE1 were set to 33105479; 28334956; 26539891
Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490
Fetal anomalies v0.0 PRKAG2 Zornitza Stark gene: PRKAG2 was added
gene: PRKAG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKAG2 were set to Glycogen storage disease of heart, lethal congenital, OMIM:261740; Cardiomyopathy, hypertrophic 6, OMIM:600858; Lethal congenital glycogen storage disease of heart, MONDO:0009867; Hypertrophic cardiomyopathy 6, MONDO:0010946
Fetal anomalies v0.0 PREPL Zornitza Stark gene: PREPL was added
gene: PREPL was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME
Fetal anomalies v0.0 PPP3CA Zornitza Stark gene: PPP3CA was added
gene: PPP3CA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures
Fetal anomalies v0.0 POP1 Zornitza Stark gene: POP1 was added
gene: POP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561
Fetal anomalies v0.0 POLR1A Zornitza Stark gene: POLR1A was added
gene: POLR1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type, OMIM:616462; Acrofacial dysostosis Cincinnati type, MONDO:0014651
Fetal anomalies v0.0 POLG2 Zornitza Stark gene: POLG2 was added
gene: POLG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415; Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Fetal anomalies v0.0 POLE Zornitza Stark gene: POLE was added
gene: POLE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 23230001; 25948378
Phenotypes for gene: POLE were set to severe growth failure of prenatal onset; IUGR; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS)
Fetal anomalies v0.0 PNPLA1 Zornitza Stark gene: PNPLA1 was added
gene: PNPLA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to Autosomal recessive congenital ichthyosis 10, MONDO:0014011; Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
Fetal anomalies v0.0 PLPBP Zornitza Stark gene: PLPBP was added
gene: PLPBP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy
Fetal anomalies v0.0 PLG Zornitza Stark gene: PLG was added
gene: PLG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLG were set to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090
Fetal anomalies v0.0 PLD1 Zornitza Stark gene: PLD1 was added
gene: PLD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD1 were set to 27799408; 33645542
Phenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, OMIM:212093
Fetal anomalies v0.0 PLCB4 Zornitza Stark gene: PLCB4 was added
gene: PLCB4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.0 PLCB1 Zornitza Stark gene: PLCB1 was added
gene: PLCB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
Fetal anomalies v0.0 PLAG1 Zornitza Stark gene: PLAG1 was added
gene: PLAG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PLAG1 were set to Silver-Russell syndrome 4, OMIM:618907; Silver-russell syndrome 4, MONDO:0030118
Fetal anomalies v0.0 PLAA Zornitza Stark gene: PLAA was added
gene: PLAA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy
Fetal anomalies v0.0 PITX1 Zornitza Stark gene: PITX1 was added
gene: PITX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX1 were set to Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520; Clubfoot, MONDO:0007342; Liebenberg syndrome, OMIM:186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800
Fetal anomalies v0.0 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIK3C2A were set to Oculocerebrodental syndrome, MONDO:0034145; Oculoskeletodental syndrome, OMIM:618440
Fetal anomalies v0.0 PIH1D3 Zornitza Stark gene: PIH1D3 was added
gene: PIH1D3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991; Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517
Fetal anomalies v0.0 PIGY Zornitza Stark gene: PIGY was added
gene: PIGY was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency
Fetal anomalies v0.0 PIGN Zornitza Stark gene: PIGN was added
gene: PIGN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563; Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080
Fetal anomalies v0.0 PIGG Zornitza Stark gene: PIGG was added
gene: PIGG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGG were set to Intellectual Disability with Seizures and Hypotonia
Fetal anomalies v0.0 PIBF1 Zornitza Stark gene: PIBF1 was added
gene: PIBF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33, MONDO:0033311; Joubert syndrome 33, OMIM:617767
Fetal anomalies v0.0 PHF21A Zornitza Stark gene: PHF21A was added
gene: PHF21A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHF21A were set to POTOCKI-SHAFFER SYNDROME
Fetal anomalies v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM3 were set to 28543917; 24931394
Phenotypes for gene: PGM3 were set to PGM3-CDG, MONDO:0014353; Immunodeficiency 23, OMIM:615816
Fetal anomalies v0.0 PGAP1 Zornitza Stark gene: PGAP1 was added
gene: PGAP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP1 were set to Intellectual disability, encephalopathy, impaired GPI-anchor maturation
Fetal anomalies v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII, OMIM:232800; Glycogen storage disease VII, MONDO:0009295
Fetal anomalies v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.0 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2
Fetal anomalies v0.0 PDE6H Zornitza Stark gene: PDE6H was added
gene: PDE6H was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6H were set to ACHROMATOPSIA; RETINAL CONE DYSTROPHY 3 PDE6H
Fetal anomalies v0.0 PDE10A Zornitza Stark gene: PDE10A was added
gene: PDE10A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDE10A were set to Childhood-Onset Chorea with Bilateral Striatal Lesions
Fetal anomalies v0.0 PBX1 Zornitza Stark gene: PBX1 was added
gene: PBX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641; Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549
Fetal anomalies v0.0 PAX7 Zornitza Stark gene: PAX7 was added
gene: PAX7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAX7 were set to Myopathy, congenital, progressive, with scoliosis, OMIM:618578; Myopathy, congenital, progressive, with scoliosis, MONDO:0032821
Fetal anomalies v0.0 PAICS Zornitza Stark gene: PAICS was added
gene: PAICS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAICS were set to 31600779
Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities; early neonatal death
Fetal anomalies v0.0 PACS1 Zornitza Stark gene: PACS1 was added
gene: PACS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PACS1 were set to 30712880
Phenotypes for gene: PACS1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 P4HB Zornitza Stark gene: P4HB was added
gene: P4HB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, OMIM:112240; Cole-Carpenter syndrome 1, MONDO:0007204
Fetal anomalies v0.0 OTUD6B Zornitza Stark gene: OTUD6B was added
gene: OTUD6B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD6B were set to Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Fetal anomalies v0.0 OTUD5 Zornitza Stark gene: OTUD5 was added
gene: OTUD5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to 33523931; 33131077
Phenotypes for gene: OTUD5 were set to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
Fetal anomalies v0.0 OSGEP Zornitza Stark gene: OSGEP was added
gene: OSGEP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, OMIM:617729; Galloway-Mowat syndrome 3, MONDO:0033007
Fetal anomalies v0.0 NXN Zornitza Stark gene: NXN was added
gene: NXN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2, OMIM:618529; Robinow syndrome, autosomal recessive 2, MONDO:0032800
Fetal anomalies v0.0 NUS1 Zornitza Stark gene: NUS1 was added
gene: NUS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NUS1 were set to Epilepsy and intellectual disability
Fetal anomalies v0.0 NUP88 Zornitza Stark gene: NUP88 was added
gene: NUP88 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP88 were set to 30543681
Phenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MONDO:0100104; Fetal akinesia deformation sequence 4, OMIM:618393
Fetal anomalies v0.0 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to INFANTILE STRIATONIGRAL DEGENERATION
Fetal anomalies v0.0 NUAK2 Zornitza Stark gene: NUAK2 was added
gene: NUAK2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NUAK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUAK2 were set to 22689267; 32845958
Phenotypes for gene: NUAK2 were set to Anencephaly
Fetal anomalies v0.0 NTRK2 Zornitza Stark gene: NTRK2 was added
gene: NTRK2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NTRK2 were set to Epilepsy and intellectual disability
Fetal anomalies v0.0 NSUN2 Zornitza Stark gene: NSUN2 was added
gene: NSUN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSUN2 were set to AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5
Fetal anomalies v0.0 NRXN2 Zornitza Stark gene: NRXN2 was added
gene: NRXN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NRXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NRXN2 were set to AUTISM
Fetal anomalies v0.0 NOVA2 Zornitza Stark gene: NOVA2 was added
gene: NOVA2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity
Fetal anomalies v0.0 NONO Zornitza Stark gene: NONO was added
gene: NONO was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NONO were set to 32397791
Phenotypes for gene: NONO were set to Atresia; Ventricular septal defect (VSD); Pulmonary stenosis; Ebstein s anomaly; Left ventricular non-compaction cardiomyopathy (LVNC)
Fetal anomalies v0.0 NMNAT2 Zornitza Stark gene: NMNAT2 was added
gene: NMNAT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31132363; 23082226; 31136762
Phenotypes for gene: NMNAT2 were set to hydropic placenta; hydrocephalus; micrognathia; bilateral hypoplastic lungs; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; cleft palate; hydrops fetalis; flexion contractures of all extremities; cystic hygroma
Fetal anomalies v0.0 NKX6-2 Zornitza Stark gene: NKX6-2 was added
gene: NKX6-2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Progressive Spastic Ataxia and Hypomyelination
Fetal anomalies v0.0 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Autosomal recessive congenital ichthyosis 6, MONDO:0012847; Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
Fetal anomalies v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
Fetal anomalies v0.0 NEXMIF Zornitza Stark gene: NEXMIF was added
gene: NEXMIF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NEXMIF were set to Intellectual disability and epilepsy; KIAA2022
Fetal anomalies v0.0 NEK9 Zornitza Stark gene: NEK9 was added
gene: NEK9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK9 were set to 26908619; 26633546; 32333414; 21271645
Phenotypes for gene: NEK9 were set to Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660; NEK9-related lethal skeletal dysplasia, MONDO:0014870; Lethal congenital contracture syndrome 10, OMIM:617022; ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262
Fetal anomalies v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK8 were set to 26697755; 18199800; 26967905; 26862157; 23418306
Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; ?Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444
Fetal anomalies v0.0 NEDD4L Zornitza Stark gene: NEDD4L was added
gene: NEDD4L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia 7, MONDO:0014966; Periventricular nodular heterotopia 7, OMIM:617201
Fetal anomalies v0.0 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Orofacial cleft 7, OMIM:225060; Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060
Fetal anomalies v0.0 NDUFB11 Zornitza Stark gene: NDUFB11 was added
gene: NDUFB11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
Fetal anomalies v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to LEIGH SYNDROME
Fetal anomalies v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to LEIGH SYNDROME DUP
Fetal anomalies v0.0 NAXE Zornitza Stark gene: NAXE was added
gene: NAXE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Lethal Neurometabolic Disorder of Early Childhood
Fetal anomalies v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B
Fetal anomalies v0.0 NADSYN1 Zornitza Stark gene: NADSYN1 was added
gene: NADSYN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Fetal anomalies v0.0 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NAA15 were set to CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER
Fetal anomalies v0.0 MYPN Zornitza Stark gene: MYPN was added
gene: MYPN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYPN were set to Nemaline myopathy 11, autosomal recessive, 617336
Fetal anomalies v0.0 MYOD1 Zornitza Stark gene: MYOD1 was added
gene: MYOD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOD1 were set to 30403323; 26733463; 31260566
Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
Fetal anomalies v0.0 MYOCD Zornitza Stark gene: MYOCD was added
gene: MYOCD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to Megabladder, congenital, OMIM:618719; Megabladder, congenital, MONDO:0032879
Fetal anomalies v0.0 MYO9A Zornitza Stark gene: MYO9A was added
gene: MYO9A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO9A were set to 27259756; 29462312; 26752647
Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198; Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
Fetal anomalies v0.0 MYO18B Zornitza Stark gene: MYO18B was added
gene: MYO18B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO18B were set to 27858739; 25748484; 27879346
Phenotypes for gene: MYO18B were set to Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689; Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549
Fetal anomalies v0.0 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMK were set to 28681861
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, MONDO:0009700; Carey-Fineman-Ziter syndrome, OMIM:254940
Fetal anomalies v0.0 MYLK Zornitza Stark gene: MYLK was added
gene: MYLK was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYLK were set to 28602422
Phenotypes for gene: MYLK were set to MMIH; Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Fetal anomalies v0.0 MYL9 Zornitza Stark gene: MYL9 was added
gene: MYL9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL9 were set to 29453416; 33031641
Phenotypes for gene: MYL9 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Fetal anomalies v0.0 MYL1 Zornitza Stark gene: MYL1 was added
gene: MYL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to 30215711
Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Fetal anomalies v0.0 MYH7 Zornitza Stark gene: MYH7 was added
gene: MYH7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH7 were set to 22859017; 26337809; 25547560
Phenotypes for gene: MYH7 were set to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262
Fetal anomalies v0.0 MYH2 Zornitza Stark gene: MYH2 was added
gene: MYH2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYH2 were set to 15548556; 11114175; 24193343; 23388406; 20418530; 23489661
Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
Fetal anomalies v0.0 MSTO1 Zornitza Stark gene: MSTO1 was added
gene: MSTO1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 28544275; 29339779; 31130378; 31604776; 28554942
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714
Fetal anomalies v0.0 MSMO1 Zornitza Stark gene: MSMO1 was added
gene: MSMO1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSMO1 were set to 21285510; 24144731
Phenotypes for gene: MSMO1 were set to Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793; Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
Fetal anomalies v0.0 MRPS34 Zornitza Stark gene: MRPS34 was added
gene: MRPS34 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit
Fetal anomalies v0.0 MRAS Zornitza Stark gene: MRAS was added
gene: MRAS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MRAS were set to 31108500; 28289718; 31173466
Phenotypes for gene: MRAS were set to Noonan syndrome 11, MONDO:0032786; Noonan syndrome 11, OMIM:618499
Fetal anomalies v0.0 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, OMIM:606056; MOGS-CDG, MONDO:0011629
Fetal anomalies v0.0 MN1 Zornitza Stark gene: MN1 was added
gene: MN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MN1 were set to 31834374; 31839203; 15870292
Phenotypes for gene: MN1 were set to CEBALID syndrome, OMIM:618774; CEBALID syndrome, MONDO:0032908
Mode of pathogenicity for gene: MN1 was set to Other
Fetal anomalies v0.0 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MITF were set to 27889061
Phenotypes for gene: MITF were set to Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome/ocular albinism, digenic, 103470; TIETZ SYNDROME; Waardenburg syndrome, type 2A, 193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; COMMAD syndrome, 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM
Fetal anomalies v0.0 MIR17HG Zornitza Stark gene: MIR17HG was added
gene: MIR17HG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MIR17HG were set to FEINGOLD SYNDROME
Fetal anomalies v0.0 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, OMIM:618644; Osteogenesis imperfecta, type 20, MONDO:0032846
Fetal anomalies v0.0 MEOX1 Zornitza Stark gene: MEOX1 was added
gene: MEOX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEOX1 were set to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958
Fetal anomalies v0.0 MEIS2 Zornitza Stark gene: MEIS2 was added
gene: MEIS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MEIS2 were set to 30055086; 27225850; 25712757; 24678003; 30291340
Phenotypes for gene: MEIS2 were set to Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970; Cleft palate, cardiac defects, and mental retardation, OMIM:600987
Fetal anomalies v0.0 MED17 Zornitza Stark gene: MED17 was added
gene: MED17 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED17 were set to MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
Fetal anomalies v0.0 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 MECR Zornitza Stark gene: MECR was added
gene: MECR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MECR were set to Childhood-Onset Dystonia and Optic Atrophy
Fetal anomalies v0.0 MECOM Zornitza Stark gene: MECOM was added
gene: MECOM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Fetal anomalies v0.0 MDH2 Zornitza Stark gene: MDH2 was added
gene: MDH2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy
Fetal anomalies v0.0 MBOAT7 Zornitza Stark gene: MBOAT7 was added
gene: MBOAT7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Fetal anomalies v0.0 MAT1A Zornitza Stark gene: MAT1A was added
gene: MAT1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAT1A were set to METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
Fetal anomalies v0.0 MAP3K7 Zornitza Stark gene: MAP3K7 was added
gene: MAP3K7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, MONDO:0014935; Frontometaphyseal dysplasia 2, OMIM:617137; Cardiospondylocarpofacial syndrome, MONDO:0008005
Fetal anomalies v0.0 MAP3K20 Zornitza Stark gene: MAP3K20 was added
gene: MAP3K20 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAP3K20 were set to 26755636; 27816943
Phenotypes for gene: MAP3K20 were set to Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695; Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Split-foot malformation with mesoaxial polydactyly, OMIM:616890
Fetal anomalies v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS
Fetal anomalies v0.0 MAN1B1 Zornitza Stark gene: MAN1B1 was added
gene: MAN1B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.0 MAMLD1 Zornitza Stark gene: MAMLD1 was added
gene: MAMLD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2
Fetal anomalies v0.0 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MONDO:0032677; Lissencephaly 9 with complex brainstem malformation, OMIM:618325
Fetal anomalies v0.0 LRRC56 Zornitza Stark gene: LRRC56 was added
gene: LRRC56 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC56 were set to 30388400
Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637
Fetal anomalies v0.0 LRIT3 Zornitza Stark gene: LRIT3 was added
gene: LRIT3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS
Fetal anomalies v0.0 LRIG2 Zornitza Stark gene: LRIG2 was added
gene: LRIG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIG2 were set to UROFACIAL SYNDROME
Fetal anomalies v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA
Fetal anomalies v0.0 LRAT Zornitza Stark gene: LRAT was added
gene: LRAT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to LEBER CONGENITAL AMAUROSIS
Fetal anomalies v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS syndrome, OMIM:600373; CODAS syndrome, MONDO:0010879
Fetal anomalies v0.0 LIPT2 Zornitza Stark gene: LIPT2 was added
gene: LIPT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Fetal anomalies v0.0 LIPT1 Zornitza Stark gene: LIPT1 was added
gene: LIPT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Fetal anomalies v0.0 LIPN Zornitza Stark gene: LIPN was added
gene: LIPN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4
Fetal anomalies v0.0 LINS1 Zornitza Stark gene: LINS1 was added
gene: LINS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.0 LIAS Zornitza Stark gene: LIAS was added
gene: LIAS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Fetal anomalies v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS2 were set to 32442335; 26537577
Phenotypes for gene: LARS2 were set to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Fetal anomalies v0.0 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077; Lissencephaly 5, OMIM:615191
Fetal anomalies v0.0 KRT74 Zornitza Stark gene: KRT74 was added
gene: KRT74 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2
Fetal anomalies v0.0 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES
Fetal anomalies v0.0 KNL1 Zornitza Stark gene: KNL1 was added
gene: KNL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KNL1 were set to 26626498; 26621532; 22983954
Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive, OMIM:604321; Microcephaly 4, primary, autosomal recessive, MONDO:0011437
Fetal anomalies v0.0 KMT2B Zornitza Stark gene: KMT2B was added
gene: KMT2B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2B were set to Complex early-onset dystonia
Fetal anomalies v0.0 KLHL7 Zornitza Stark gene: KLHL7 was added
gene: KLHL7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL7 were set to PERCHING syndrome, MONDO:0014890; PERCHING syndrome, OMIM:617055
Fetal anomalies v0.0 KIF5C Zornitza Stark gene: KIF5C was added
gene: KIF5C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF5C were set to Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282; Complex cortical dysplasia with other brain malformations 2, MONDO:0014116
Fetal anomalies v0.0 KIF2A Zornitza Stark gene: KIF2A was added
gene: KIF2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF2A were set to Complex cortical dysplasia with other brain malformations 3, MONDO:0014170; Cortical dysplasia, complex, with other brain malformations 3, OMIM:615411
Fetal anomalies v0.0 KIF14 Zornitza Stark gene: KIF14 was added
gene: KIF14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF14 were set to 29343805; 24128419; 30388224; 28892560
Phenotypes for gene: KIF14 were set to Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552; Microcephaly 20, primary, autosomal recessive, OMIM:617914; Meckel syndrome 12, OMIM:616258; Microcephaly 20, primary, autosomal recessive, MONDO:0054761
Fetal anomalies v0.0 KIDINS220 Zornitza Stark gene: KIDINS220 was added
gene: KIDINS220 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; cerebral ventriculomegaly; limb contractures; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007
Fetal anomalies v0.0 KIAA0753 Zornitza Stark gene: KIAA0753 was added
gene: KIAA0753 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to 28220259; 29138412; 26643951
Phenotypes for gene: KIAA0753 were set to Orofaciodigital syndrome XV, MONDO:0014932; ?Orofaciodigital syndrome XV, OMIM:617127
Fetal anomalies v0.0 KDM1A Zornitza Stark gene: KDM1A was added
gene: KDM1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features
Fetal anomalies v0.0 KCNQ5 Zornitza Stark gene: KCNQ5 was added
gene: KCNQ5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy
Fetal anomalies v0.0 KCNJ8 Zornitza Stark gene: KCNJ8 was added
gene: KCNJ8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ8 were set to 24700710; 25275207; 24176758
Phenotypes for gene: KCNJ8 were set to Cantu syndrome
Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments
Fetal anomalies v0.0 KCNJ6 Zornitza Stark gene: KCNJ6 was added
gene: KCNJ6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME
Fetal anomalies v0.0 KCNH1 Zornitza Stark gene: KCNH1 was added
gene: KCNH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME
Fetal anomalies v0.0 KCNC3 Zornitza Stark gene: KCNC3 was added
gene: KCNC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13
Fetal anomalies v0.0 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521379; 26640080; 25521378
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534
Fetal anomalies v0.0 JAM3 Zornitza Stark gene: JAM3 was added
gene: JAM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
Fetal anomalies v0.0 ITGA8 Zornitza Stark gene: ITGA8 was added
gene: ITGA8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA8 were set to 24439109
Phenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, OMIM:191830; Renal hypodysplasia/aplasia 1, MONDO:0024519
Fetal anomalies v0.0 ITCH Zornitza Stark gene: ITCH was added
gene: ITCH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITCH were set to AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM
Fetal anomalies v0.0 IRX5 Zornitza Stark gene: IRX5 was added
gene: IRX5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY
Fetal anomalies v0.0 INPP5K Zornitza Stark gene: INPP5K was added
gene: INPP5K was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability
Fetal anomalies v0.0 IGFBP7 Zornitza Stark gene: IGFBP7 was added
gene: IGFBP7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
Fetal anomalies v0.0 IFT81 Zornitza Stark gene: IFT81 was added
gene: IFT81 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT81 were set to 30080953; 26275418; 32783357; 27666822
Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485; Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895
Fetal anomalies v0.0 IFT52 Zornitza Stark gene: IFT52 was added
gene: IFT52 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT52 were set to 27466190; 26880018; 31042281; 30242358
Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Fetal anomalies v0.0 IDH1 Zornitza Stark gene: IDH1 was added
gene: IDH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IDH1 were set to 22057234; 22057236; 22025298; 24049096
Phenotypes for gene: IDH1 were set to Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000; Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875
Fetal anomalies v0.0 ICK Zornitza Stark gene: ICK was added
gene: ICK was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 24853502; 19185282; 27466187; 27069622
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Fetal anomalies v0.0 HPD Zornitza Stark gene: HPD was added
gene: HPD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to TYROSINEMIA TYPE 3; HAWKINSINURIA
Fetal anomalies v0.0 HOXB1 Zornitza Stark gene: HOXB1 was added
gene: HOXB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3
Fetal anomalies v0.0 HNRNPH2 Zornitza Stark gene: HNRNPH2 was added
gene: HNRNPH2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HNRNPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HNRNPH2 were set to Neurodevelopmental Disorder in Females
Fetal anomalies v0.0 HMX1 Zornitza Stark gene: HMX1 was added
gene: HMX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMX1 were set to OCULOAURICULAR SYNDROME
Fetal anomalies v0.0 HMGA2 Zornitza Stark gene: HMGA2 was added
gene: HMGA2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HMGA2 were set to 28796236; 29655892; 29453418; 25809938
Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795
Fetal anomalies v0.0 HIST1H4C Zornitza Stark gene: HIST1H4C was added
gene: HIST1H4C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIST1H4C were set to HIST1H4C
Fetal anomalies v0.0 HIST1H1E Zornitza Stark gene: HIST1H1E was added
gene: HIST1H1E was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIST1H1E were set to Rahman syndrome, OMIM:617537; Rahman syndrome, MONDO:0044323
Fetal anomalies v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to MUCOPOLYSACCHARIDOSIS TYPE 3C
Fetal anomalies v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Septooptic dysplasia, OMIM:182230; Septooptic dysplasia, MONDO:0008428
Fetal anomalies v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, OMIM:609015; Mitochondrial trifunctional protein deficiency, MONDO:0012172
Fetal anomalies v0.0 GZF1 Zornitza Stark gene: GZF1 was added
gene: GZF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GZF1 were set to Joint laxity, short stature, and myopia, OMIM:617662; Joint laxity, short stature, and myopia, MONDO:0060556
Fetal anomalies v0.0 GTF2E2 Zornitza Stark gene: GTF2E2 was added
gene: GTF2E2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2E2 were set to DNA Repair-Proficient Trichothiodystrophy
Fetal anomalies v0.0 GSPT2 Zornitza Stark gene: GSPT2 was added
gene: GSPT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GSPT2 were set to XL INTELLECTUAL DISABILITY
Fetal anomalies v0.0 GSC Zornitza Stark gene: GSC was added
gene: GSC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSC were set to Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227; Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471
Fetal anomalies v0.0 GRM1 Zornitza Stark gene: GRM1 was added
gene: GRM1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to CONGENITAL CEREBELLAR ATAXIA
Fetal anomalies v0.0 GRIN2D Zornitza Stark gene: GRIN2D was added
gene: GRIN2D was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2D were set to Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Fetal anomalies v0.0 GRHL2 Zornitza Stark gene: GRHL2 was added
gene: GRHL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Fetal anomalies v0.0 GREB1L Zornitza Stark gene: GREB1L was added
gene: GREB1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GREB1L were set to 29261186; 32378186; 31974414; 31424080; 29100091
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, 617805; renal agenesis
Fetal anomalies v0.0 GPX4 Zornitza Stark gene: GPX4 was added
gene: GPX4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
Fetal anomalies v0.0 GPKOW Zornitza Stark gene: GPKOW was added
gene: GPKOW was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPKOW were set to 28612833
Phenotypes for gene: GPKOW were set to male-lethal microcephaly with intrauterine growth restriction
Fetal anomalies v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1, OMIM:258315; Autosomal recessive omodysplasia, MONDO:0009779
Fetal anomalies v0.0 GPAA1 Zornitza Stark gene: GPAA1 was added
gene: GPAA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Fetal anomalies v0.0 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability
Fetal anomalies v0.0 GNAQ Zornitza Stark gene: GNAQ was added
gene: GNAQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAQ were set to Congenital Hemangioma
Fetal anomalies v0.0 GNAI1 Zornitza Stark gene: GNAI1 was added
gene: GNAI1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAI1 were set to GNAI1 syndrome
Fetal anomalies v0.0 GNA14 Zornitza Stark gene: GNA14 was added
gene: GNA14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNA14 were set to Congenital vascular tumours
Fetal anomalies v0.0 GNA11 Zornitza Stark gene: GNA11 was added
gene: GNA11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNA11 were set to Congenital Hemangioma
Fetal anomalies v0.0 GMNN Zornitza Stark gene: GMNN was added
gene: GMNN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, OMIM:616835; Meier-Gorlin syndrome 6, MONDO:0014794
Fetal anomalies v0.0 GM2A Zornitza Stark gene: GM2A was added
gene: GM2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-GANGLIOSIDOSIS TYPE AB
Fetal anomalies v0.0 GLIS2 Zornitza Stark gene: GLIS2 was added
gene: GLIS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS2 were set to NEPHRONOPHTHISIS 7
Fetal anomalies v0.0 GLI1 Zornitza Stark gene: GLI1 was added
gene: GLI1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GLI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLI1 were set to Polydactyly, preaxial I, OMIM:174400; Polydactyly, postaxial, type A8, MONDO:0029130; Polydactyly, postaxial, type A8, OMIM:618123; Preaxial polydactyly of fingers, MONDO:0017425
Fetal anomalies v0.0 GFRA1 Zornitza Stark gene: GFRA1 was added
gene: GFRA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFRA1 were set to 33020172
Phenotypes for gene: GFRA1 were set to Renal agenesis
Fetal anomalies v0.0 GFPT1 Zornitza Stark gene: GFPT1 was added
gene: GFPT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542; Congenital myasthenic syndrome 12, MONDO:0012518
Fetal anomalies v0.0 GATA3 Zornitza Stark gene: GATA3 was added
gene: GATA3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255; Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797
Fetal anomalies v0.0 GANAB Zornitza Stark gene: GANAB was added
gene: GANAB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916; Polycystic kidney disease 3, OMIM:600666
Fetal anomalies v0.0 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 27508872; 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt OMIM:618885
Fetal anomalies v0.0 GABRG2 Zornitza Stark gene: GABRG2 was added
gene: GABRG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRG2 were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
Fetal anomalies v0.0 GABRB2 Zornitza Stark gene: GABRB2 was added
gene: GABRB2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability
Fetal anomalies v0.0 GABRA1 Zornitza Stark gene: GABRA1 was added
gene: GABRA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY; EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 FZD5 Zornitza Stark gene: FZD5 was added
gene: FZD5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FZD5 were set to Autosomal Dominant Coloboma
Fetal anomalies v0.0 FZD2 Zornitza Stark gene: FZD2 was added
gene: FZD2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FZD2 were set to Autosomal dominant omodysplasia, MONDO:0008123; Omodysplasia 2, OMIM:164745
Fetal anomalies v0.0 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005; Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775
Fetal anomalies v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to FUCOSIDOSIS
Fetal anomalies v0.0 FRRS1L Zornitza Stark gene: FRRS1L was added
gene: FRRS1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy with continuous spike-and-wave during sleep
Fetal anomalies v0.0 FRMPD4 Zornitza Stark gene: FRMPD4 was added
gene: FRMPD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FRMPD4 were set to Intellectual Disability
Fetal anomalies v0.0 FOXP4 Zornitza Stark gene: FOXP4 was added
gene: FOXP4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to multiple congenital abnormalities; Neurodevelopmental disorder
Fetal anomalies v0.0 FOXP2 Zornitza Stark gene: FOXP2 was added
gene: FOXP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXP2 were set to SPEECH-LANGUAGE DISORDER 1
Fetal anomalies v0.0 FOXL2 Zornitza Stark gene: FOXL2 was added
gene: FOXL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXL2 were set to BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME
Fetal anomalies v0.0 FN1 Zornitza Stark gene: FN1 was added
gene: FN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures
Fetal anomalies v0.0 FMN2 Zornitza Stark gene: FMN2 was added
gene: FMN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FMN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FMN2 were set to NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY
Fetal anomalies v0.0 FKBP8 Zornitza Stark gene: FKBP8 was added
gene: FKBP8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FKBP8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FKBP8 were set to 29261186; 32969478
Phenotypes for gene: FKBP8 were set to Spina bifida, HP:0002414; Vertebral segmentation defects
Fetal anomalies v0.0 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Bruck syndrome 1, MONDO:0009806; Osteogenesis imperfecta, type XI, OMIM:610968; Osteogenesis imperfecta type 11, MONDO:0012592; Bruck syndrome 1, OMIM:259450
Fetal anomalies v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J, MONDO:0012640; Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986
Fetal anomalies v0.0 FGF9 Zornitza Stark gene: FGF9 was added
gene: FGF9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF9 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 3
Fetal anomalies v0.0 FEZF1 Zornitza Stark gene: FEZF1 was added
gene: FEZF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FEZF1 were set to HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA
Fetal anomalies v0.0 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCM were set to FANCONI ANEMIA; FANCM-RELATED FANCONI ANEMIA
Fetal anomalies v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, OMIM:614083; Fanconi anemia complementation group L, MONDO:0013566
Fetal anomalies v0.0 FAM46A Zornitza Stark gene: FAM46A was added
gene: FAM46A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type 18, MONDO:0044329; Osteogenesis imperfecta, type XVIII, OMIM:617952
Fetal anomalies v0.0 EXPH5 Zornitza Stark gene: EXPH5 was added
gene: EXPH5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXPH5 were set to INHERITED SKIN FRAGILITY
Fetal anomalies v0.0 EXOC3L2 Zornitza Stark gene: EXOC3L2 was added
gene: EXOC3L2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448
Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; Meckel-Gruber-like syndrome
Fetal anomalies v0.0 EMX2 Zornitza Stark gene: EMX2 was added
gene: EMX2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EMX2 were set to Schizencephaly, 269160
Fetal anomalies v0.0 EML1 Zornitza Stark gene: EML1 was added
gene: EML1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EML1 were set to Band heterotopia, OMIM:600348
Fetal anomalies v0.0 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMG1 were set to 19463982
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180; Bowen-Conradi syndrome
Mode of pathogenicity for gene: EMG1 was set to Other
Fetal anomalies v0.0 EMC1 Zornitza Stark gene: EMC1 was added
gene: EMC1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EMC1 were set to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Fetal anomalies v0.0 ELMO2 Zornitza Stark gene: ELMO2 was added
gene: ELMO2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELMO2 were set to Intraosseous Vascular Malformation
Fetal anomalies v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, OMIM:300148; MEHMO syndrome, MONDO:0010258
Fetal anomalies v0.0 EHBP1L1 Zornitza Stark gene: EHBP1L1 was added
gene: EHBP1L1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to 26833786; https://dmdd.org.uk/mutants/Ehbp1l1; 34645488
Phenotypes for gene: EHBP1L1 were set to non-immune hydrops fetalis MONDO:0009369
Fetal anomalies v0.0 EEF1A2 Zornitza Stark gene: EEF1A2 was added
gene: EEF1A2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EEF1A2 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 EED Zornitza Stark gene: EED was added
gene: EED was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EED were set to Cohen-Gibson syndrome, MONDO:0060510; Cohen-Gibson syndrome, OMIM:617561
Fetal anomalies v0.0 EDN1 Zornitza Stark gene: EDN1 was added
gene: EDN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.0 DZIP1L Zornitza Stark gene: DZIP1L was added
gene: DZIP1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, 617610
Fetal anomalies v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088
Fetal anomalies v0.0 DSG1 Zornitza Stark gene: DSG1 was added
gene: DSG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSG1 were set to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING
Fetal anomalies v0.0 DRC1 Zornitza Stark gene: DRC1 was added
gene: DRC1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DRC1 were set to PRIMARY CILARY DYSKINEASIA
Fetal anomalies v0.0 DPM3 Zornitza Stark gene: DPM3 was added
gene: DPM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM3 were set to ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
Fetal anomalies v0.0 DPM2 Zornitza Stark gene: DPM2 was added
gene: DPM2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu, 615042
Fetal anomalies v0.0 DPH1 Zornitza Stark gene: DPH1 was added
gene: DPH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH1 were set to 25558065; 32732226; 30877278; 29362492
Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901
Fetal anomalies v0.0 DPF2 Zornitza Stark gene: DPF2 was added
gene: DPF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DPF2 were set to Coffin Siris like disorder
Fetal anomalies v0.0 DONSON Zornitza Stark gene: DONSON was added
gene: DONSON was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DONSON were set to Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604
Fetal anomalies v0.0 DOCK7 Zornitza Stark gene: DOCK7 was added
gene: DOCK7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DOCK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK7 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
Fetal anomalies v0.0 DNM2 Zornitza Stark gene: DNM2 was added
gene: DNM2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DNM2 were set to PMID: 30208955
Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, 615368
Fetal anomalies v0.0 DNM1L Zornitza Stark gene: DNM1L was added
gene: DNM1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
Fetal anomalies v0.0 DNM1 Zornitza Stark gene: DNM1 was added
gene: DNM1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DNM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNM1 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 DNAL1 Zornitza Stark gene: DNAL1 was added
gene: DNAL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16, 614017
Fetal anomalies v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198
Fetal anomalies v0.0 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Fetal anomalies v0.0 DNAJB11 Zornitza Stark gene: DNAJB11 was added
gene: DNAJB11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, 618061
Fetal anomalies v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus,612444
Fetal anomalies v0.0 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia 18, MONDO:0013940; Ciliary dyskinesia, primary, 18, OMIM:614874
Fetal anomalies v0.0 DNAAF2 Zornitza Stark gene: DNAAF2 was added
gene: DNAAF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10, 612518
Fetal anomalies v0.0 DLX5 Zornitza Stark gene: DLX5 was added
gene: DLX5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DLX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DLX5 were set to ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600; Split-hand/foot malformation 1, 183600
Fetal anomalies v0.0 DLG4 Zornitza Stark gene: DLG4 was added
gene: DLG4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DLG4 were set to DLG4 related intellectual disability
Fetal anomalies v0.0 DISP1 Zornitza Stark gene: DISP1 was added
gene: DISP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DISP1 were set to 27363716
Phenotypes for gene: DISP1 were set to Holoprosencephaly
Fetal anomalies v0.0 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, microcephaly syndrome, 616632
Fetal anomalies v0.0 DHX30 Zornitza Stark gene: DHX30 was added
gene: DHX30 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DHX30 were set to Neurodevelopmental Disorder
Fetal anomalies v0.0 DHTKD1 Zornitza Stark gene: DHTKD1 was added
gene: DHTKD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHTKD1 were set to 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA
Fetal anomalies v0.0 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DHDDS were set to Epilepsy and intellectual disability
Fetal anomalies v0.0 DENND5A Zornitza Stark gene: DENND5A was added
gene: DENND5A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DENND5A were set to Developmental and epileptic encephalopathy, 49, MONDO:0015002; Developmental and epileptic encephalopathy 49, OMIM:617281
Fetal anomalies v0.0 DDX6 Zornitza Stark gene: DDX6 was added
gene: DDX6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DDX6 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 DDX59 Zornitza Stark gene: DDX59 was added
gene: DDX59 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, MONDO:0008267; Orofaciodigital syndrome V, OMIM:174300
Fetal anomalies v0.0 DCDC2 Zornitza Stark gene: DCDC2 was added
gene: DCDC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCDC2 were set to RENAL-HEPATIC CILIOPATHY
Fetal anomalies v0.0 DCC Zornitza Stark gene: DCC was added
gene: DCC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCC were set to Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability
Fetal anomalies v0.0 CYP4F22 Zornitza Stark gene: CYP4F22 was added
gene: CYP4F22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777
Fetal anomalies v0.0 CYP26B1 Zornitza Stark gene: CYP26B1 was added
gene: CYP26B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Fetal anomalies v0.0 CYB5R3 Zornitza Stark gene: CYB5R3 was added
gene: CYB5R3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYB5R3 were set to METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
Fetal anomalies v0.0 CUX2 Zornitza Stark gene: CUX2 was added
gene: CUX2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CUX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CUX2 were set to Developmental epileptic encephalopathy
Fetal anomalies v0.0 CTU2 Zornitza Stark gene: CTU2 was added
gene: CTU2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
Fetal anomalies v0.0 CTNND1 Zornitza Stark gene: CTNND1 was added
gene: CTNND1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTNND1 were set to Blepharo-cheiro-dontic syndrome
Fetal anomalies v0.0 CTDP1 Zornitza Stark gene: CTDP1 was added
gene: CTDP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTDP1 were set to 20301787; 14517542; 24690360; 29174527
Phenotypes for gene: CTDP1 were set to CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME
Fetal anomalies v0.0 CSTA Zornitza Stark gene: CSTA was added
gene: CSTA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTA were set to EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE
Fetal anomalies v0.0 CRIPT Zornitza Stark gene: CRIPT was added
gene: CRIPT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies, 615789
Fetal anomalies v0.0 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRELD1 were set to HETEROTAXY SYNDROME
Fetal anomalies v0.0 CREB3L1 Zornitza Stark gene: CREB3L1 was added
gene: CREB3L1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229
Fetal anomalies v0.0 CRADD Zornitza Stark gene: CRADD was added
gene: CRADD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRADD were set to Megalencephaly with Variant Lissencephaly
Fetal anomalies v0.0 CPAMD8 Zornitza Stark gene: CPAMD8 was added
gene: CPAMD8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPAMD8 were set to Anterior Segment Dysgenesis
Fetal anomalies v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLQ were set to 9689136; 11865139
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034
Fetal anomalies v0.0 COLEC10 Zornitza Stark gene: COLEC10 was added
gene: COLEC10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC10 were set to 3MC syndrome 3, MONDO:0009554; 3MC syndrome 3, OMIM:248340
Fetal anomalies v0.0 COL25A1 Zornitza Stark gene: COL25A1 was added
gene: COL25A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL25A1 were set to FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5
Fetal anomalies v0.0 COL13A1 Zornitza Stark gene: COL13A1 was added
gene: COL13A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, OMIM:616720; Congenital myasthenic syndrome 19, MONDO:0014745
Fetal anomalies v0.0 COL12A1 Zornitza Stark gene: COL12A1 was added
gene: COL12A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL12A1 were set to ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471
Fetal anomalies v0.0 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576; Shaheen syndrome, 615328
Fetal anomalies v0.0 COG5 Zornitza Stark gene: COG5 was added
gene: COG5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG5 were set to COG5-CDG, MONDO:0013325; Congenital disorder of glycosylation, type III, OMIM:613612
Fetal anomalies v0.0 CNTN1 Zornitza Stark gene: CNTN1 was added
gene: CNTN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN1 were set to 32779773; 19026398
Phenotypes for gene: CNTN1 were set to Myopathy, congenital, Compton-North, OMIM:612540
Fetal anomalies v0.0 CNKSR2 Zornitza Stark gene: CNKSR2 was added
gene: CNKSR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY
Fetal anomalies v0.0 CNBP Zornitza Stark gene: CNBP was added
gene: CNBP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668
Fetal anomalies v0.0 CLTC Zornitza Stark gene: CLTC was added
gene: CLTC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLTC were set to 33743358
Phenotypes for gene: CLTC were set to Fetal growth restriction; Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia
Fetal anomalies v0.0 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to PERRAULT SYNDROME
Fetal anomalies v0.0 CLP1 Zornitza Stark gene: CLP1 was added
gene: CLP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, OMIM:615803; Pontocerebellar hypoplasia type 10, MONDO:0014349
Fetal anomalies v0.0 CLMP Zornitza Stark gene: CLMP was added
gene: CLMP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLMP were set to CONGENITAL SHORT BOWEL SYNDROME
Fetal anomalies v0.0 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B
Fetal anomalies v0.0 CIT Zornitza Stark gene: CIT was added
gene: CIT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive, OMIM:617090; Microcephaly 17, primary, autosomal recessive, MONDO:0014908
Fetal anomalies v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
Fetal anomalies v0.0 CHRNB2 Zornitza Stark gene: CHRNB2 was added
gene: CHRNB2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNB2 were set to CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT; NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT
Fetal anomalies v0.0 CHRNB1 Zornitza Stark gene: CHRNB1 was added
gene: CHRNB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313
Fetal anomalies v0.0 CHRNA3 Zornitza Stark gene: CHRNA3 was added
gene: CHRNA3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
Fetal anomalies v0.0 CHMP1A Zornitza Stark gene: CHMP1A was added
gene: CHMP1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia type 8, MONDO:0013990; Pontocerebellar hypoplasia, type 8, OMIM:614961
Fetal anomalies v0.0 CHD8 Zornitza Stark gene: CHD8 was added
gene: CHD8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD8 were set to AUTISM
Fetal anomalies v0.0 CHD3 Zornitza Stark gene: CHD3 was added
gene: CHD3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD3 were set to Apraxia of speech
Fetal anomalies v0.0 CFL2 Zornitza Stark gene: CFL2 was added
gene: CFL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFL2 were set to Nemaline myopathy 7, MONDO:0012538; Nemaline myopathy 7, autosomal recessive, OMIM:610687
Fetal anomalies v0.0 CERS3 Zornitza Stark gene: CERS3 was added
gene: CERS3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023
Fetal anomalies v0.0 CEP63 Zornitza Stark gene: CEP63 was added
gene: CEP63 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP63 were set to ?Seckel syndrome 6, OMIM:614728; Seckel syndrome 6, MONDO:0013871
Fetal anomalies v0.0 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 28295209; 28264986; 30622327
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; lethal CEP55-related syndromes
Fetal anomalies v0.0 CEP135 Zornitza Stark gene: CEP135 was added
gene: CEP135 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CEP135 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP135 were set to Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849
Fetal anomalies v0.0 CENPF Zornitza Stark gene: CENPF was added
gene: CENPF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to 25564561; PMID: 26820108
Phenotypes for gene: CENPF were set to Stromme syndrome, 243605
Fetal anomalies v0.0 CELSR1 Zornitza Stark gene: CELSR1 was added
gene: CELSR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CELSR1 were set to Lymphatic malformation 9, OMIM:619319
Fetal anomalies v0.0 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MONDO:0011488; Microcephaly 3, primary, autosomal recessive, OMIM:604804
Fetal anomalies v0.0 CD96 Zornitza Stark gene: CD96 was added
gene: CD96 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CD96 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CD96 were set to C SYNDROME
Fetal anomalies v0.0 CD151 Zornitza Stark gene: CD151 was added
gene: CD151 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD151 were set to NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
Fetal anomalies v0.0 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360; Hydrocephalus, congenital, 1, OMIM:236600
Fetal anomalies v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC8 were set to 3M syndrome 3, MONDO:0013627; 3-M syndrome 3, OMIM:614205
Fetal anomalies v0.0 CCDC78 Zornitza Stark gene: CCDC78 was added
gene: CCDC78 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCDC78 were set to CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES
Fetal anomalies v0.0 CCDC22 Zornitza Stark gene: CCDC22 was added
gene: CCDC22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Fetal anomalies v0.0 CCDC151 Zornitza Stark gene: CCDC151 was added
gene: CCDC151 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CCDC151 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC151 were set to Primary ciliary dyskinesia 30, MONDO:0014465; Ciliary dyskinesia, primary, 30, OMIM:616037
Fetal anomalies v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalcemia, autosomal dominant, 601198; Hyperparathyroidism, neonatal, 239200
Fetal anomalies v0.0 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Epileptic encephalopathy with complex movement disorder and regression
Fetal anomalies v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450
Fetal anomalies v0.0 CAMTA1 Zornitza Stark gene: CAMTA1 was added
gene: CAMTA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
Fetal anomalies v0.0 CAMK2B Zornitza Stark gene: CAMK2B was added
gene: CAMK2B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMK2B were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 CAMK2A Zornitza Stark gene: CAMK2A was added
gene: CAMK2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMK2A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 CACNA1G Zornitza Stark gene: CACNA1G was added
gene: CACNA1G was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087
Fetal anomalies v0.0 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CACNA1D were set to SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
Fetal anomalies v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 CA5A Zornitza Stark gene: CA5A was added
gene: CA5A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY
Fetal anomalies v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV, OMIM:615948; Orofaciodigital syndrome type 14, MONDO:0014413
Fetal anomalies v0.0 C21orf59 Zornitza Stark gene: C21orf59 was added
gene: C21orf59 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: C21orf59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf59 were set to Primary ciliary dyskinesia 26, MONDO:0014211; Ciliary dyskinesia, primary, 26, OMIM:615500
Fetal anomalies v0.0 C1QBP Zornitza Stark gene: C1QBP was added
gene: C1QBP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Fetal anomalies v0.0 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf57 were set to COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME
Fetal anomalies v0.0 BPTF Zornitza Stark gene: BPTF was added
gene: BPTF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BPTF were set to Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Fetal anomalies v0.0 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2
Fetal anomalies v0.0 BNC2 Zornitza Stark gene: BNC2 was added
gene: BNC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital, 618612
Fetal anomalies v0.0 BLOC1S6 Zornitza Stark gene: BLOC1S6 was added
gene: BLOC1S6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to HERMANSKY-PUDLAK SYNDROME 9
Fetal anomalies v0.0 BCL9L Zornitza Stark gene: BCL9L was added
gene: BCL9L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCL9L were set to 23035047
Phenotypes for gene: BCL9L were set to Heterotaxy
Fetal anomalies v0.0 BANF1 Zornitza Stark gene: BANF1 was added
gene: BANF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME
Fetal anomalies v0.0 B9D2 Zornitza Stark gene: B9D2 was added
gene: B9D2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D2 were set to 21763481; 31411728; 26092869
Phenotypes for gene: B9D2 were set to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
Fetal anomalies v0.0 B9D1 Zornitza Stark gene: B9D1 was added
gene: B9D1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 32622957; 24886560
Phenotypes for gene: B9D1 were set to Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Meckel syndrome 9, OMIM:614209; Joubert syndrome 27, MONDO:0014927
Fetal anomalies v0.0 B4GAT1 Zornitza Stark gene: B4GAT1 was added
gene: B4GAT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GAT1 were set to 23877401; 23359570
Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
Fetal anomalies v0.0 B3GALNT2 Zornitza Stark gene: B3GALNT2 was added
gene: B3GALNT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071
Fetal anomalies v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Seckel syndrome 1, MONDO:0008869; Seckel syndrome 1, OMIM:210600
Fetal anomalies v0.0 ATP6V1B2 Zornitza Stark gene: ATP6V1B2 was added
gene: ATP6V1B2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME
Fetal anomalies v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 31608932; 30690204
Phenotypes for gene: ATP1A2 were set to hydrops fetalis; arthrogryposis; microcephaly; extensive cortical malformations
Fetal anomalies v0.0 ASXL3 Zornitza Stark gene: ASXL3 was added
gene: ASXL3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME
Fetal anomalies v0.0 ASXL2 Zornitza Stark gene: ASXL2 was added
gene: ASXL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features
Fetal anomalies v0.0 ASPH Zornitza Stark gene: ASPH was added
gene: ASPH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPH were set to Traboulsi syndrome, OMIM:601552
Fetal anomalies v0.0 ARID2 Zornitza Stark gene: ARID2 was added
gene: ARID2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder
Fetal anomalies v0.0 ARHGAP29 Zornitza Stark gene: ARHGAP29 was added
gene: ARHGAP29 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARHGAP29 were set to Cleft palate; cleft lip with or without cleft palate
Fetal anomalies v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly, OMIM:608097
Fetal anomalies v0.0 AP4S1 Zornitza Stark gene: AP4S1 was added
gene: AP4S1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4S1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6
Fetal anomalies v0.0 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4M1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3
Fetal anomalies v0.0 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
Fetal anomalies v0.0 AP3B2 Zornitza Stark gene: AP3B2 was added
gene: AP3B2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy
Fetal anomalies v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR2 were set to 30176098; 20301698; 14508707
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600
Fetal anomalies v0.0 ANKS6 Zornitza Stark gene: ANKS6 was added
gene: ANKS6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382
Fetal anomalies v0.0 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2
Fetal anomalies v0.0 AMMECR1 Zornitza Stark gene: AMMECR1 was added
gene: AMMECR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990
Fetal anomalies v0.0 AMBRA1 Zornitza Stark gene: AMBRA1 was added
gene: AMBRA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMBRA1 were set to 32333458; 17589504
Phenotypes for gene: AMBRA1 were set to Neural tube defects
Fetal anomalies v0.0 AMACR Zornitza Stark gene: AMACR was added
gene: AMACR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, 614307
Fetal anomalies v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545
Fetal anomalies v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100
Fetal anomalies v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 25966638; 28932688; 26453364; 31420886
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, 608776; Gillessen-Kaesbach-Nishimura syndrome, 263210; ALG9-CDG; hydops fetalis; AR lethal skeletal dysplasia; NIHF
Fetal anomalies v0.0 ALG2 Zornitza Stark gene: ALG2 was added
gene: ALG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to ALG2-CDG
Fetal anomalies v0.0 ALG13 Zornitza Stark gene: ALG13 was added
gene: ALG13 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ALG13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ALG13 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC ENCEPHALOPATHIES.
Fetal anomalies v0.0 ALG11 Zornitza Stark gene: ALG11 was added
gene: ALG11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG11 were set to ALG11-CDG
Fetal anomalies v0.0 AKT2 Zornitza Stark gene: AKT2 was added
gene: AKT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT2 were set to 24285683; 21979934; 28502730
Phenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416; Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
Fetal anomalies v0.0 AIMP1 Zornitza Stark gene: AIMP1 was added
gene: AIMP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 3
Fetal anomalies v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COWCHOCK SYNDROME
Fetal anomalies v0.0 AHCY Zornitza Stark gene: AHCY was added
gene: AHCY was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 20852937; 31957987; 30121674
Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency; Fetal hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Fetal anomalies v0.0 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease
Fetal anomalies v0.0 ADAMTS3 Zornitza Stark gene: ADAMTS3 was added
gene: ADAMTS3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS3 were set to 30450763; 28985353
Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564
Fetal anomalies v0.0 ACVR1 Zornitza Stark gene: ACVR1 was added
gene: ACVR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Fetal anomalies v0.0 ACSL4 Zornitza Stark gene: ACSL4 was added
gene: ACSL4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63
Fetal anomalies v0.0 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION
Fetal anomalies v0.0 ABL1 Zornitza Stark gene: ABL1 was added
gene: ABL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602
Fetal anomalies v0.0 ABCD4 Zornitza Stark gene: ABCD4 was added
gene: ABCD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE
Fetal anomalies v0.0 AASS Zornitza Stark gene: AASS was added
gene: AASS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AASS were set to Hyperlysinemia (disease), MONDO:0009388; Hyperlysinemia, OMIM:238700
Fetal anomalies v0.0 AARS Zornitza Stark gene: AARS was added
gene: AARS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS were set to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593
Fetal anomalies v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED
Fetal anomalies v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to HETEROTAXY SYNDROME; VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
Fetal anomalies v0.0 ZIC2 Zornitza Stark gene: ZIC2 was added
gene: ZIC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY
Fetal anomalies v0.0 ZIC1 Zornitza Stark gene: ZIC1 was added
gene: ZIC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZIC1 were set to CRANIOSYNOSTOSIS 6
Fetal anomalies v0.0 ZFP57 Zornitza Stark gene: ZFP57 was added
gene: ZFP57 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFP57 were set to DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL
Fetal anomalies v0.0 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME
Fetal anomalies v0.0 ZC4H2 Zornitza Stark gene: ZC4H2 was added
gene: ZC4H2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZC4H2 were set to 30712880
Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Fetal anomalies v0.0 ZBTB20 Zornitza Stark gene: ZBTB20 was added
gene: ZBTB20 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME
Fetal anomalies v0.0 ZBTB18 Zornitza Stark gene: ZBTB18 was added
gene: ZBTB18 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZBTB18 were set to ZBTB18 syndrome
Fetal anomalies v0.0 YY1 Zornitza Stark gene: YY1 was added
gene: YY1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YY1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2
Fetal anomalies v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM
Fetal anomalies v0.0 WT1 Zornitza Stark gene: WT1 was added
gene: WT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WT1 were set to DENYS-DRASH SYNDROME; FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME
Fetal anomalies v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
Fetal anomalies v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME; LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME
Fetal anomalies v0.0 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WNT5A were set to WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT
Fetal anomalies v0.0 WNT10B Zornitza Stark gene: WNT10B was added
gene: WNT10B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6, OMIM:225300
Fetal anomalies v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, OMIM:615220
Fetal anomalies v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION
Fetal anomalies v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to SHORT-RIB POLYDACTYLY; JEUNE SYNDROMES
Fetal anomalies v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA 2; SHORT RIB-POLYDACTYLY SYNDROME, TYPE V
Fetal anomalies v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to SHORT-RIB POLYDACTYLY SYNDROME TYPE III; SEVERE ASPHYXIATING THORACIC DYSPLASIA
Fetal anomalies v0.0 WDR26 Zornitza Stark gene: WDR26 was added
gene: WDR26 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR26 were set to Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Fetal anomalies v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4; ASPHYXIATING THORACIC DYSTROPHY 5
Fetal anomalies v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15
Fetal anomalies v0.0 VSX2 Zornitza Stark gene: VSX2 was added
gene: VSX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to MICROPHTHALMIA ISOLATED TYPE 2; MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES; MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3
Fetal anomalies v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to 12920088; 24577744; 30100179
Phenotypes for gene: VPS53 were set to Progressive cerebella-cerebral atrophy type 2; PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851
Fetal anomalies v0.0 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Fetal anomalies v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13B were set to 20683995
Phenotypes for gene: VPS13B were set to COHEN SYNDROME
Fetal anomalies v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1
Fetal anomalies v0.0 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
Fetal anomalies v0.0 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to CONGENITAL ERYTHROPOIETIC PORPHYRIA
Fetal anomalies v0.0 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UMPS were set to OROTIC ACIDURIA TYPE 1
Fetal anomalies v0.0 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME
Fetal anomalies v0.0 UBE3B Zornitza Stark gene: UBE3B was added
gene: UBE3B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION
Fetal anomalies v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile 301830
Fetal anomalies v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNL4A were set to BURN MCKEOWN SYNDROME
Fetal anomalies v0.0 TWIST2 Zornitza Stark gene: TWIST2 was added
gene: TWIST2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TWIST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TWIST2 were set to 26119818
Phenotypes for gene: TWIST2 were set to Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885
Mode of pathogenicity for gene: TWIST2 was set to Other
Fetal anomalies v0.0 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TWIST1 were set to SAETHRE-CHOTZEN SYNDROME; CRANIOSYNOSTOSIS, TYPE 1
Fetal anomalies v0.0 TUBGCP6 Zornitza Stark gene: TUBGCP6 was added
gene: TUBGCP6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION
Fetal anomalies v0.0 TUBB4A Zornitza Stark gene: TUBB4A was added
gene: TUBB4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
Fetal anomalies v0.0 TUBB2B Zornitza Stark gene: TUBB2B was added
gene: TUBB2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB2B were set to POLYMICROGYRIA ASYMMETRIC
Fetal anomalies v0.0 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB2A were set to 28840640; 30016746; 25326637; 27770045; 24702957
Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Mode of pathogenicity for gene: TUBB2A was set to Other
Fetal anomalies v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; Circumferential Skin Creases Kunze Type
Fetal anomalies v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBA8 were set to 28388629; 31481326; 19896110
Phenotypes for gene: TUBA8 were set to Cortical dysplasia, complex, with other brain malformations 8, 613180; POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
Fetal anomalies v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBA1A were set to INTELLECTUAL DISABILITY; LISSENCEPHALY TYPE 3
Fetal anomalies v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 29575618; 28040389; 29691892
Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis
Fetal anomalies v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to RETINITIS PIGMENTOSA TYPE 51; BARDET-BIEDL SYNDROME TYPE 8
Fetal anomalies v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to INTESTINAL ATRESIA, MULTIPLE
Fetal anomalies v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to TRICHOHEPATOENTERIC SYNDROME
Fetal anomalies v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly 613819
Fetal anomalies v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN54 were set to 16470708; 20952379; 20956791
Phenotypes for gene: TSEN54 were set to ?Pontocerebellar hypoplasia type 5, OMIM:610204; Pontocerebellar hypoplasia type 4, OMIM:225753; Pontocerebellar hypoplasia type 2A, OMIM:277470
Fetal anomalies v0.0 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to TUBEROUS SCLEROSIS TYPE 2; LYMPHANGIOLEIOMYOMATOSIS
Fetal anomalies v0.0 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC1 were set to TUBEROUS SCLEROSIS TYPE 1
Fetal anomalies v0.0 TRPV6 Zornitza Stark gene: TRPV6 was added
gene: TRPV6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188; Transient Neonatal Hyperparathyroidism
Fetal anomalies v0.0 TRPV4 Zornitza Stark gene: TRPV4 was added
gene: TRPV4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV4 were set to METATROPIC DYSPLASIA; SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Fetal anomalies v0.0 TRPS1 Zornitza Stark gene: TRPS1 was added
gene: TRPS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPS1 were set to TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1
Fetal anomalies v0.0 TRIP4 Zornitza Stark gene: TRIP4 was added
gene: TRIP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP4 were set to 26924529; 27008887
Phenotypes for gene: TRIP4 were set to Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
Fetal anomalies v0.0 TRIP12 Zornitza Stark gene: TRIP12 was added
gene: TRIP12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRIP12 were set to TRIP12-related intellectual disability with/without autism spectrum disorder
Fetal anomalies v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to ACHONDROGENESIS TYPE 1A
Fetal anomalies v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to MULIBREY NANISM
Fetal anomalies v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
Fetal anomalies v0.0 TRAPPC9 Zornitza Stark gene: TRAPPC9 was added
gene: TRAPPC9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13
Fetal anomalies v0.0 TRAF7 Zornitza Stark gene: TRAF7 was added
gene: TRAF7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569
Phenotypes for gene: TRAF7 were set to Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Cardiac, facial, and digital anomalies with developmental delay, 618164
Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments
Fetal anomalies v0.0 TPM3 Zornitza Stark gene: TPM3 was added
gene: TPM3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TPM3 were set to Congenital fiber-type disproportion myopathy 255310
Fetal anomalies v0.0 TPM2 Zornitza Stark gene: TPM2 was added
gene: TPM2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TPM2 were set to 12592607; 17339586
Phenotypes for gene: TPM2 were set to Arthrogryposis multiplex congenita, distal, type 1, 108120; Arthrogryposis, distal, type 2B, 601680; ARTHROGRYPOSIS, DISTAL, TYPE 1
Mode of pathogenicity for gene: TPM2 was set to Other
Fetal anomalies v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; SPLIT-HAND/FOOT MALFORMATION TYPE 4; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; NON-SYNDROMIC OROFACIAL CLEFT TYPE 8; LIMB-MAMMARY SYNDROME
Fetal anomalies v0.0 TOP3A Zornitza Stark gene: TOP3A was added
gene: TOP3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 30193137
Phenotypes for gene: TOP3A were set to Bloom Syndrome like Disorder
Fetal anomalies v0.0 TNNT1 Zornitza Stark gene: TNNT1 was added
gene: TNNT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type 605355
Fetal anomalies v0.0 TNNI2 Zornitza Stark gene: TNNI2 was added
gene: TNNI2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680
Fetal anomalies v0.0 TMEM94 Zornitza Stark gene: TMEM94 was added
gene: TMEM94 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to PMID: 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
Fetal anomalies v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to COACH SYNDROM; JOUBERT SYNDROME TYPE 6; MECKEL SYNDROME TYPE 3; NEPHRONOPHTHISIS TYPE 11
Fetal anomalies v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to SEVERE COBBLESTONE LISSENCEPHALY
Fetal anomalies v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to JOUBERT SYNDROME 14
Fetal anomalies v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 614970; Meckel syndrome 11 615397
Fetal anomalies v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM165 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK
Fetal anomalies v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16 614465
Fetal anomalies v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
Fetal anomalies v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Fetal anomalies v0.0 THRA Zornitza Stark gene: THRA was added
gene: THRA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: THRA were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
Fetal anomalies v0.0 THOC6 Zornitza Stark gene: THOC6 was added
gene: THOC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: THOC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: THOC6 were set to Beaulieu-Boycott-Innes syndrome
Fetal anomalies v0.0 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 242300
Fetal anomalies v0.0 TGIF1 Zornitza Stark gene: TGIF1 was added
gene: TGIF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGIF1 were set to HOLOPROSENCEPHALY; Holoprosencephaly 4 142946
Fetal anomalies v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME; TGFBR2-RELATED LOEYS-DIETZ SYNDROME
Fetal anomalies v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A; AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5; LOEYS-DIETZ SYNDROME TYPE 1A
Fetal anomalies v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB3 were set to LOEYS-DIETZ SYNDROME
Fetal anomalies v0.0 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB2 were set to LOEYS-DIETZ SYNDROME, TYPE 4
Fetal anomalies v0.0 TGDS Zornitza Stark gene: TGDS was added
gene: TGDS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGDS were set to CATEL-MANZKE SYNDROME
Fetal anomalies v0.0 TFAP2B Zornitza Stark gene: TFAP2B was added
gene: TFAP2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TFAP2B were set to CHAR SYNDROME
Fetal anomalies v0.0 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME
Fetal anomalies v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to MOHR-MAJEWSKI SYNDROME
Fetal anomalies v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN2 were set to 30712880
Phenotypes for gene: TCTN2 were set to JOUBERT SYNDROME AND RELATED DISORDERS
Fetal anomalies v0.0 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to Joubert syndrome 13 614173; JOUBERT SYNDROME AND RELATED DISORDERS
Fetal anomalies v0.0 TCOF1 Zornitza Stark gene: TCOF1 was added
gene: TCOF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCOF1 were set to TREACHER COLLINS SYNDROME TYPE 1
Fetal anomalies v0.0 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant 259700
Fetal anomalies v0.0 TCF4 Zornitza Stark gene: TCF4 was added
gene: TCF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF4 were set to PITT-HOPKINS SYNDROME
Fetal anomalies v0.0 TCF12 Zornitza Stark gene: TCF12 was added
gene: TCF12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF12 were set to CORONAL CRANIOSYNOSTOSIS
Fetal anomalies v0.0 TBX6 Zornitza Stark gene: TBX6 was added
gene: TBX6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5 122600
Fetal anomalies v0.0 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX5 were set to HOLT-ORAM SYNDROME
Fetal anomalies v0.0 TBX4 Zornitza Stark gene: TBX4 was added
gene: TBX4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Fetal anomalies v0.0 TBX3 Zornitza Stark gene: TBX3 was added
gene: TBX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME
Fetal anomalies v0.0 TBX20 Zornitza Stark gene: TBX20 was added
gene: TBX20 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX20 were set to ATRIAL SEPTAL DEFECT TYPE 4
Fetal anomalies v0.0 TBX18 Zornitza Stark gene: TBX18 was added
gene: TBX18 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
Fetal anomalies v0.0 TBX15 Zornitza Stark gene: TBX15 was added
gene: TBX15 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX15 were set to Cousin Syndrome; Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature
Fetal anomalies v0.0 TBX1 Zornitza Stark gene: TBX1 was added
gene: TBX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX1 were set to 22Q11.2 DELETION SYNDROME
Fetal anomalies v0.0 TBL1XR1 Zornitza Stark gene: TBL1XR1 was added
gene: TBL1XR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBL1XR1 were set to 26769062; 30365874; 25425123; 9450851; 23160955; 28687524; 23176139; 16007632
Phenotypes for gene: TBL1XR1 were set to Intellectual disability with autism spectrum disorder; Pierpont syndrome
Fetal anomalies v0.0 TBCK Zornitza Stark gene: TBCK was added
gene: TBCK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCK were set to Severe Infantile Syndromic Encephalopathy
Fetal anomalies v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; KENNY-CAFFEY SYNDROME TYPE 1
Fetal anomalies v0.0 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646; Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193
Fetal anomalies v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS; DOORS SYNDROME; MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL
Fetal anomalies v0.0 TBC1D23 Zornitza Stark gene: TBC1D23 was added
gene: TBC1D23 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia
Fetal anomalies v0.0 TBC1D20 Zornitza Stark gene: TBC1D20 was added
gene: TBC1D20 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D20 were set to 24239381
Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4; Warburg micro syndrome 4 615663
Fetal anomalies v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to BARTH SYNDROME
Fetal anomalies v0.0 TAPT1 Zornitza Stark gene: TAPT1 was added
gene: TAPT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAPT1 were set to COMPLEX LETHAL OSTEOCHONDRODYSPLASIA
Fetal anomalies v0.0 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency, 606003; Fetal hydrops
Fetal anomalies v0.0 TAF1 Zornitza Stark gene: TAF1 was added
gene: TAF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Fetal anomalies v0.0 TAB2 Zornitza Stark gene: TAB2 was added
gene: TAB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2
Fetal anomalies v0.0 SUZ12 Zornitza Stark gene: SUZ12 was added
gene: SUZ12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUZ12 were set to 30019515; 28229514
Phenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome; Imagawa-Matsumoto syndrome #618786
Fetal anomalies v0.0 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to SULFATIDOSIS, JUVENILE, AUSTIN TYPE
Fetal anomalies v0.0 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLG1 were set to 21093335
Phenotypes for gene: SUCLG1 were set to FATAL INFANTILE LACTIC ACIDOSIS
Fetal anomalies v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to MICROPHTHALMIA SYNDROMIC TYPE 9
Fetal anomalies v0.0 STAR Zornitza Stark gene: STAR was added
gene: STAR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA
Fetal anomalies v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to MICROCEPHALY CAPILLARY MALFORMATION (MIC-CAP) SYNDROME
Fetal anomalies v0.0 STAG2 Zornitza Stark gene: STAG2 was added
gene: STAG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: STAG2 were set to 29263825; 28296084; 30158690
Phenotypes for gene: STAG2 were set to STAG2-related developmental delay with microcephaly and congenital anomalies
Fetal anomalies v0.0 SRY Zornitza Stark gene: SRY was added
gene: SRY was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SRY was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SRY were set to 46XY SEX REVERSAL 1
Fetal anomalies v0.0 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A3 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.0 SRD5A2 Zornitza Stark gene: SRD5A2 was added
gene: SRD5A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SRD5A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A2 were set to Pseudovaginal perineoscrotal hypospadias 264600
Fetal anomalies v0.0 SRCAP Zornitza Stark gene: SRCAP was added
gene: SRCAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME
Fetal anomalies v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPRED1 were set to LEGIUS SYNDROME
Fetal anomalies v0.0 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11
Fetal anomalies v0.0 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY
Fetal anomalies v0.0 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
Fetal anomalies v0.0 SPAG1 Zornitza Stark gene: SPAG1 was added
gene: SPAG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.
Fetal anomalies v0.0 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX9 were set to 30712880; 28425981
Phenotypes for gene: SOX9 were set to CAMPOMELIC DYSPLASIA; PIERRE ROBIN SEQUENCE
Fetal anomalies v0.0 SOX3 Zornitza Stark gene: SOX3 was added
gene: SOX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
Fetal anomalies v0.0 SOX2 Zornitza Stark gene: SOX2 was added
gene: SOX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX2 were set to AEG SYNDROME; MICROPHTHALMIA SYNDROMIC TYPE 3
Fetal anomalies v0.0 SOX17 Zornitza Stark gene: SOX17 was added
gene: SOX17 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX17 were set to VESICOURETERAL REFLUX TYPE 3
Fetal anomalies v0.0 SOX10 Zornitza Stark gene: SOX10 was added
gene: SOX10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX10 were set to KALLMANN SYNDROME WITH DEAFNESS; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; WAARDENBURG SYNDROME TYPE 4C; WAARDENBURG SYNDROME TYPE 2E; YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
Fetal anomalies v0.0 SOST Zornitza Stark gene: SOST was added
gene: SOST was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to Craniodiaphyseal dysplasia, autosomal dominant, 122860; Sclerosteosis 1, 269500; SOST-Related Sclerosing Bone Dysplasias 122860
Fetal anomalies v0.0 SOS2 Zornitza Stark gene: SOS2 was added
gene: SOS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOS2 were set to Noonan syndrome 9, 616559; Fetal hydrops
Fetal anomalies v0.0 SOS1 Zornitza Stark gene: SOS1 was added
gene: SOS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOS1 were set to NOONAN SYNDROME 4
Fetal anomalies v0.0 SON Zornitza Stark gene: SON was added
gene: SON was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SON were set to Intellectual Disability, Congenital Malformations, and Failure to Thrive
Fetal anomalies v0.0 SNX14 Zornitza Stark gene: SNX14 was added
gene: SNX14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Fetal anomalies v0.0 SNRPB Zornitza Stark gene: SNRPB was added
gene: SNRPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME
Fetal anomalies v0.0 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy with cerebral calcification & cysts
Fetal anomalies v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE B; NIEMANN-PICK DISEASE TYPE A
Fetal anomalies v0.0 SMOC1 Zornitza Stark gene: SMOC1 was added
gene: SMOC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC1 were set to OPHTHALMOACROMELIC SYNDROME
Fetal anomalies v0.0 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMO were set to Curry-Jones Syndrome
Fetal anomalies v0.0 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMN1 were set to 32644125; 11826188; 32644120
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy 253400; Spinal muscular atrophy 271150; Spinal muscular atrophy 253550; Spinal muscular atrophy 253300
Fetal anomalies v0.0 SMCHD1 Zornitza Stark gene: SMCHD1 was added
gene: SMCHD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome
Fetal anomalies v0.0 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME TYPE 3
Fetal anomalies v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SMC1A were set to Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771; Cornelia de Lange syndrome 2, OMIM:300590; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Cornelia de Lange syndrome 2, MONDO:0010370
Fetal anomalies v0.0 SMARCB1 Zornitza Stark gene: SMARCB1 was added
gene: SMARCB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1; ?COFFIN-SIRIS SYNDROME
Fetal anomalies v0.0 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS; RHABDOID TUMOR PREDISPOSITION SYNDROME 2
Fetal anomalies v0.0 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS; NICOLAIDES-BARAITSER SYNDROME
Fetal anomalies v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD4 were set to JUVENILE POLYPOSIS SYNDROME; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
Fetal anomalies v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD3 were set to SMAD3-RELATED LOEYS-DIETZ SYNDROME
Fetal anomalies v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLX4 were set to 21240277; 21240275
Phenotypes for gene: SLX4 were set to FANCONI ANEMIA COMPLEMENTATION GROUP P
Fetal anomalies v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy
Fetal anomalies v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to SCHNECKENBECKEN DYSPLASIA
Fetal anomalies v0.0 SLC35C1 Zornitza Stark gene: SLC35C1 was added
gene: SLC35C1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35C1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C
Fetal anomalies v0.0 SLC35A2 Zornitza Stark gene: SLC35A2 was added
gene: SLC35A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SLC35A2 were set to CONGENITAL DISORDER OF GLYCOSYLATION
Fetal anomalies v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Fetal anomalies v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME
Fetal anomalies v0.0 SLC27A4 Zornitza Stark gene: SLC27A4 was added
gene: SLC27A4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to ICHTHYOSIS PREMATURITY SYNDROME
Fetal anomalies v0.0 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type 214700
Fetal anomalies v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B; DIASTROPHIC DYSPLASIA; ATELOSTEOGENESIS TYPE 2; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4
Fetal anomalies v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
Fetal anomalies v0.0 SLC25A24 Zornitza Stark gene: SLC25A24 was added
gene: SLC25A24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Fetal anomalies v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Fetal anomalies v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to SALLA DISEASE; INFANTILE SIALIC ACID STORAGE DISORDER
Fetal anomalies v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Fetal anomalies v0.0 SLC13A5 Zornitza Stark gene: SLC13A5 was added
gene: SLC13A5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC13A5 were set to EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE
Fetal anomalies v0.0 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A6 were set to 31439721; 21628467; 16606917; 12368912; 27485015; 17893295
Phenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
Fetal anomalies v0.0 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1 601678
Fetal anomalies v0.0 SLC10A7 Zornitza Stark gene: SLC10A7 was added
gene: SLC10A7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 29878199; 30082715
Phenotypes for gene: SLC10A7 were set to Chondrodysplasia with multiple dislocations and amelogenesis imperfecta
Fetal anomalies v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Fetal anomalies v0.0 SIX5 Zornitza Stark gene: SIX5 was added
gene: SIX5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2
Fetal anomalies v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY
Fetal anomalies v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800
Fetal anomalies v0.0 SIK3 Zornitza Stark gene: SIK3 was added
gene: SIK3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIK3 were set to 30232230; 22318228
Phenotypes for gene: SIK3 were set to Spondyloepimetaphyseal dysplasia, Krakow type, 618162
Fetal anomalies v0.0 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA; LERI-WEILL DYSCHONDROSTEOSIS
Fetal anomalies v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHOC2 were set to NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
Fetal anomalies v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5; TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME; HOLOPROSENCEPHALY TYPE 3; SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Fetal anomalies v0.0 SH3PXD2B Zornitza Stark gene: SH3PXD2B was added
gene: SH3PXD2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME
Fetal anomalies v0.0 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome type 14, 617575; Fetal hydrops
Fetal anomalies v0.0 SF3B4 Zornitza Stark gene: SF3B4 was added
gene: SF3B4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
Fetal anomalies v0.0 SETD5 Zornitza Stark gene: SETD5 was added
gene: SETD5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
Fetal anomalies v0.0 SETBP1 Zornitza Stark gene: SETBP1 was added
gene: SETBP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETBP1 were set to DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
Fetal anomalies v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 26805434; 26888482; 29464431
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D
Fetal anomalies v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 20381388
Phenotypes for gene: SEC23B were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Fetal anomalies v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME 7
Fetal anomalies v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 15210538; 18924171
Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
Fetal anomalies v0.0 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN4A were set to HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPOKALEMIC PERIODIC PARALYSIS
Fetal anomalies v0.0 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN2A were set to 30712878
Phenotypes for gene: SCN2A were set to NONSPECIFIC SEVERE ID; INFANTILE EPILEPTIC ENCEPHALOPATHY; BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
Fetal anomalies v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME
Fetal anomalies v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS
Fetal anomalies v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME
Fetal anomalies v0.0 SATB2 Zornitza Stark gene: SATB2 was added
gene: SATB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SATB2 were set to NONSPECIFIC SEVERE ID; SYNDROMAL PIERRE ROBIN SEQUENCE; CLEFT PALATE ISOLATED
Fetal anomalies v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME
Fetal anomalies v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9 were set to 28346228; 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
Mode of pathogenicity for gene: SAMD9 was set to Other
Fetal anomalies v0.0 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME; DUANE-RADIAL RAY SYNDROME
Fetal anomalies v0.0 SALL1 Zornitza Stark gene: SALL1 was added
gene: SALL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL1 were set to TOWNES-BROCKS SYNDROME
Fetal anomalies v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Fetal anomalies v0.0 RUNX2 Zornitza Stark gene: RUNX2 was added
gene: RUNX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RUNX2 were set to CLEIDOCRANIAL DYSPLASIA
Fetal anomalies v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTTN were set to BILATERAL DIFFUSE POLYMICROGYRIA
Fetal anomalies v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
Fetal anomalies v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial depletion syndrome
Fetal anomalies v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: RPS6KA3 were set to COFFIN-LOWRY SYNDROME
Fetal anomalies v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10 613309
Fetal anomalies v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS19 were set to RPS19-RELATED DIAMOND-BLACKFAN ANEMIA
Fetal anomalies v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4 612527
Fetal anomalies v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anemia 9 613308
Fetal anomalies v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6 612561
Fetal anomalies v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs; Diamond-Blackfan anemia 7 612562
Fetal anomalies v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to MECKEL SYNDROME TYPE 5; COACH SYNDROME; JOUBERT SYNDROME TYPE 7
Fetal anomalies v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to BRACHYDACTYLY, TYPE B1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT; ROR2-RELATED DISORDERS AR
Fetal anomalies v0.0 ROGDI Zornitza Stark gene: ROGDI was added
gene: ROGDI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROGDI were set to KOHLSCHAYTTER-TANZ SYNDROME
Fetal anomalies v0.0 ROBO1 Zornitza Stark gene: ROBO1 was added
gene: ROBO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ROBO1 were set to 30712880; 28485101; 28592524
Phenotypes for gene: ROBO1 were set to tetralogy of Fallot and septal defects
Fetal anomalies v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Fetal anomalies v0.0 RNASET2 Zornitza Stark gene: RNASET2 was added
gene: RNASET2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASET2 were set to LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
Fetal anomalies v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3
Fetal anomalies v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2
Fetal anomalies v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4
Fetal anomalies v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA
Fetal anomalies v0.0 RIT1 Zornitza Stark gene: RIT1 was added
gene: RIT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RIT1 were set to 30712878; 28425981
Phenotypes for gene: RIT1 were set to NOONAN SYNDROME 8
Fetal anomalies v0.0 RIPK4 Zornitza Stark gene: RIPK4 was added
gene: RIPK4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK4 were set to 28425981
Phenotypes for gene: RIPK4 were set to POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Fetal anomalies v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME
Fetal anomalies v0.0 RET Zornitza Stark gene: RET was added
gene: RET was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RET were set to RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB
Fetal anomalies v0.0 RERE Zornitza Stark gene: RERE was added
gene: RERE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RERE were set to Phenocopy of Proximal 1p36 Deletions
Fetal anomalies v0.0 REN Zornitza Stark gene: REN was added
gene: REN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REN were set to 31736371
Phenotypes for gene: REN were set to Renal tubular dysgenesis 267430
Fetal anomalies v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RELN were set to LISSENCEPHALY 2
Fetal anomalies v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME; ROTHMUND-THOMSON SYNDROME; BALLER-GEROLD SYNDROME
Fetal anomalies v0.0 RBPJ Zornitza Stark gene: RBPJ was added
gene: RBPJ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RBPJ were set to 22883147; 28160419
Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME
Fetal anomalies v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Fetal anomalies v0.0 RAX Zornitza Stark gene: RAX was added
gene: RAX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3
Fetal anomalies v0.0 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
Fetal anomalies v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS2 were set to 26083569
Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6
Fetal anomalies v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
Fetal anomalies v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to FETAL AKINESIA DEFORMATION SEQUENCE; CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Fetal anomalies v0.0 RAI1 Zornitza Stark gene: RAI1 was added
gene: RAI1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAI1 were set to SMITH-MAGENIS SYNDROME
Fetal anomalies v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAF1 were set to NOONAN SYNDROME 5
Fetal anomalies v0.0 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAD21 were set to COHESINOPATHY
Fetal anomalies v0.0 RAC1 Zornitza Stark gene: RAC1 was added
gene: RAC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAC1 were set to 30712878; 28886345
Phenotypes for gene: RAC1 were set to Developmental Disorders with Diverse Phenotypes
Fetal anomalies v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME
Fetal anomalies v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1
Fetal anomalies v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Fetal anomalies v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3
Fetal anomalies v0.0 QRICH1 Zornitza Stark gene: QRICH1 was added
gene: QRICH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: QRICH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: QRICH1 were set to QRICH1 syndrome
Fetal anomalies v0.0 PYCR1 Zornitza Stark gene: PYCR1 was added
gene: PYCR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
Fetal anomalies v0.0 PUF60 Zornitza Stark gene: PUF60 was added
gene: PUF60 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PUF60 were set to PUF60 syndrome
Fetal anomalies v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
Fetal anomalies v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTPN11 were set to 30266093; 28425981
Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1; NOONAN SYNDROME 1
Fetal anomalies v0.0 PTHLH Zornitza Stark gene: PTHLH was added
gene: PTHLH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTHLH were set to BRACHYDACTYLY, TYPE E2; CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
Fetal anomalies v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION; EIKEN SKELETAL DYSPLASIA; CHONDRODYSPLASIA BLOMSTRAND TYPE; JANSEN METAPHYSEAL CHONDRODYSPLASIA
Fetal anomalies v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to PANCREATIC AGENESIS; DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
Fetal anomalies v0.0 PTDSS1 Zornitza Stark gene: PTDSS1 was added
gene: PTDSS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Fetal anomalies v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7; BASAL CELL NEVUS SYNDROME
Fetal anomalies v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to PHOSPHOSERINE PHOSPHATASE DEFICIENCY; NEU-LAXOVA
Fetal anomalies v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to ATYPICAL KRABBE DISEASE
Fetal anomalies v0.0 PRSS56 Zornitza Stark gene: PRSS56 was added
gene: PRSS56 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRSS56 were set to MICROPHTHALMIA ISOLATED TYPE 6
Fetal anomalies v0.0 PRMT7 Zornitza Stark gene: PRMT7 was added
gene: PRMT7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder
Fetal anomalies v0.0 PRKD1 Zornitza Stark gene: PRKD1 was added
gene: PRKD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKD1 were set to 32817298; 33919081; 27479907; 25713110
Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects
Fetal anomalies v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS
Fetal anomalies v0.0 PRG4 Zornitza Stark gene: PRG4 was added
gene: PRG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250
Fetal anomalies v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to RENPENNING S(YNDROME 1
Fetal anomalies v0.0 PPP2R5D Zornitza Stark gene: PPP2R5D was added
gene: PPP2R5D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP2R5D were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 PPP2R1A Zornitza Stark gene: PPP2R1A was added
gene: PPP2R1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP2R1A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 PPP1CB Zornitza Stark gene: PPP1CB was added
gene: PPP1CB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair
Fetal anomalies v0.0 PPIB Zornitza Stark gene: PPIB was added
gene: PPIB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440
Fetal anomalies v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.0 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PORCN were set to FOCAL DERMAL HYPOPLASIA
Fetal anomalies v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Fetal anomalies v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2
Fetal anomalies v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1
Fetal anomalies v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to 24556084; 24925318; 23519211
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249
Fetal anomalies v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME
Fetal anomalies v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3
Fetal anomalies v0.0 POLR3B Zornitza Stark gene: POLR3B was added
gene: POLR3B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381
Fetal anomalies v0.0 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.0 POLR1D Zornitza Stark gene: POLR1D was added
gene: POLR1D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLR1D were set to TREACHER COLLINS SYNDROME TYPE 2
Fetal anomalies v0.0 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME TYPE 3
Fetal anomalies v0.0 POGZ Zornitza Stark gene: POGZ was added
gene: POGZ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POGZ were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to PRIMORDIAL DWARFISM; SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
Fetal anomalies v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to ATAXIA-OCULOMOTOR APRAXIA 4; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
Fetal anomalies v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to BRUCK SYNDROME TYPE 2
Fetal anomalies v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM
Fetal anomalies v0.0 PLK4 Zornitza Stark gene: PLK4 was added
gene: PLK4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLK4 were set to MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
Fetal anomalies v0.0 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency 266200
Fetal anomalies v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
Fetal anomalies v0.0 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PKD2 were set to Polycystic kidney disease 613095
Fetal anomalies v0.0 PKD1L1 Zornitza Stark gene: PKD1L1 was added
gene: PKD1L1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKD1L1 were set to Laterality defects
Fetal anomalies v0.0 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PKD1 were set to 23624871; 20558538
Phenotypes for gene: PKD1 were set to Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD); Polycystic kidney disease, 173900
Fetal anomalies v0.0 PITX3 Zornitza Stark gene: PITX3 was added
gene: PITX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX3 were set to CATARACT AUTOSOMAL DOMINANT; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; CATARACT POSTERIOR POLAR TYPE 4
Fetal anomalies v0.0 PITX2 Zornitza Stark gene: PITX2 was added
gene: PITX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX2 were set to AXENFELD-RIEGER SYNDROME TYPE 1; PETERS ANOMALY; RING DERMOID OF CORNEA; IRIDOGONIODYSGENESIS TYPE 2
Fetal anomalies v0.0 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3R2 were set to 28425981
Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
Fetal anomalies v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIK3R1 were set to AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; SHORT SYNDROME
Fetal anomalies v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3CA were set to 30712880; 28425981
Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI; HEMIMEGALENCEPHALY PIK3CA; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3
Fetal anomalies v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION
Fetal anomalies v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGT were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
Fetal anomalies v0.0 PIGO Zornitza Stark gene: PIGO was added
gene: PIGO was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGO were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
Fetal anomalies v0.0 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGL were set to ZUNICH NEUROECTODERMAL SYNDROME
Fetal anomalies v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Fetal anomalies v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO2 were set to Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception; ARTHROGRYPOSIS, DISTAL, TYPE 3
Fetal anomalies v0.0 PIEZO1 Zornitza Stark gene: PIEZO1 was added
gene: PIEZO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIEZO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIEZO1 were set to 23695678; 30712880; 26333996; 28425981
Phenotypes for gene: PIEZO1 were set to Congenital lymphatic dysplasia with hydrops and/or lymphoedema; hydrops fetalis gene 616843
Fetal anomalies v0.0 PHOX2B Zornitza Stark gene: PHOX2B was added
gene: PHOX2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHOX2B were set to CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE; NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE
Fetal anomalies v0.0 PHIP Zornitza Stark gene: PHIP was added
gene: PHIP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHIP were set to Developmental delay, ID, obesity and dysmorphic features
Fetal anomalies v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; NEU-LAXOVA SYNDROME
Fetal anomalies v0.0 PHF8 Zornitza Stark gene: PHF8 was added
gene: PHF8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE
Fetal anomalies v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to BOERJESON-FORSSMAN-LEHMANN SYNDROME
Fetal anomalies v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT
Fetal anomalies v0.0 PGAP3 Zornitza Stark gene: PGAP3 was added
gene: PGAP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP3 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
Fetal anomalies v0.0 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP2 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1; REFSUM DISEASE; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11
Fetal anomalies v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4
Fetal anomalies v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; ADRENOLEUKODYSTROPHY NEONATAL
Fetal anomalies v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12
Fetal anomalies v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8; INFANTILE REFSUM DISEASE; ADRENOLEUKODYSTROPHY NEONATAL
Fetal anomalies v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5
Fetal anomalies v0.0 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14
Fetal anomalies v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
Fetal anomalies v0.0 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K
Fetal anomalies v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13; ADRENOLEUKODYSTROPHY NEONATAL
Fetal anomalies v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3
Fetal anomalies v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B
Fetal anomalies v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to ZELLWEGER SYNDROME; ADRENOLEUKODYSTROPHY NEONATAL; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
Fetal anomalies v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1; INFANTILE REFSUM DISEASE; ADRENOLEUKODYSTROPHY NEONATAL
Fetal anomalies v0.0 PEPD Zornitza Stark gene: PEPD was added
gene: PEPD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to PROLIDASE DEFICIENCY
Fetal anomalies v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PDHA1 were set to 26865159
Phenotypes for gene: PDHA1 were set to X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY; Pyruvate dehydrogenase E1-alpha deficiency
Fetal anomalies v0.0 PDGFRB Zornitza Stark gene: PDGFRB was added
gene: PDGFRB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDGFRB were set to FAMILIAL INFANTILE MYOFIBROMATOSIS; PREMATURE AGING SYNDROME, PENTTINEN TYPE
Fetal anomalies v0.0 PDE4D Zornitza Stark gene: PDE4D was added
gene: PDE4D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDE4D were set to ACRODYSOSTOSIS
Fetal anomalies v0.0 PDCD10 Zornitza Stark gene: PDCD10 was added
gene: PDCD10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDCD10 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3
Fetal anomalies v0.0 PCYT1A Zornitza Stark gene: PCYT1A was added
gene: PCYT1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
Fetal anomalies v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Fetal anomalies v0.0 PCGF2 Zornitza Stark gene: PCGF2 was added
gene: PCGF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PCGF2 were set to 30526864
Phenotypes for gene: PCGF2 were set to Craniofacial Neurological Cardiovascular and Skeletal Features; Intellectual disability; INTELLECTUAL DUSBILITY
Fetal anomalies v0.0 PAX8 Zornitza Stark gene: PAX8 was added
gene: PAX8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX8 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2
Fetal anomalies v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to COLOBOMA OF OPTIC NERVE; FOVEAL HYPOPLASIA; ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY; PETERS ANOMALY; KERATITIS HEREDITARY; ANIRIDIA; BILATERAL OPTIC NERVE HYPOPLASIA
Fetal anomalies v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX3 were set to CRANIOFACIAL-DEAFNESS-HAND SYNDROME; WAARDENBURG SYNDROME, TYPE 1
Fetal anomalies v0.0 PAX2 Zornitza Stark gene: PAX2 was added
gene: PAX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX2 were set to RENAL-COLOBOMA SYNDROME
Fetal anomalies v0.0 PARN Zornitza Stark gene: PARN was added
gene: PARN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PARN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARN were set to Dyskeratosis congenita, autosomal recessive 6
Fetal anomalies v0.0 PAPSS2 Zornitza Stark gene: PAPSS2 was added
gene: PAPSS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAPSS2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE
Fetal anomalies v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PALB2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP N
Fetal anomalies v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PAK3 were set to 24556213
Phenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM; MENTAL RETARDATION X-LINKED TYPE 30
Fetal anomalies v0.0 PAFAH1B1 Zornitza Stark gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAFAH1B1 were set to SUBCORTICAL BAND HETEROTOPIA; LISSENCEPHALY TYPE 1
Fetal anomalies v0.0 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to OSTEOGENESIS IMPERFECTA, TYPE VIII
Fetal anomalies v0.0 OTX2 Zornitza Stark gene: OTX2 was added
gene: OTX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: OTX2 were set to MICROPHTHALMIA SYNDROMIC TYPE 5
Fetal anomalies v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis 259720
Fetal anomalies v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to MEIER-GORLIN SYNDROME 3
Fetal anomalies v0.0 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to MEIER-GORLIN SYNDROME 2
Fetal anomalies v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to MEIER-GORLIN SYNDROME 1
Fetal anomalies v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Fetal anomalies v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OFD1 were set to SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2; JOUBERT SYNDROME TYPE 10; ORAL-FACIAL-DIGITAL SYNDROME TYPE 1
Fetal anomalies v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OCRL were set to 33517444
Phenotypes for gene: OCRL were set to Lowe syndrome, OMIM:309000; Dent disease 2, OMIM:300555
Fetal anomalies v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria 251290
Fetal anomalies v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M SYNDROME 2
Fetal anomalies v0.0 NUP107 Zornitza Stark gene: NUP107 was added
gene: NUP107 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
Fetal anomalies v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NSDHL were set to CK SYNDROME; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
Fetal anomalies v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NSD1 were set to BECKWITH-WIEDEMANN SYNDROME; WEAVER SYNDROME; SOTOS SYNDROME
Fetal anomalies v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NRAS were set to NOONAN SYNDROME TYPE 6
Fetal anomalies v0.0 NR5A1 Zornitza Stark gene: NR5A1 was added
gene: NR5A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR5A1 were set to SPERMATOGENIC FAILURE 8; 46XY SEX REVERSAL 3
Fetal anomalies v0.0 NR2F2 Zornitza Stark gene: NR2F2 was added
gene: NR2F2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4
Fetal anomalies v0.0 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive 300018; Adrenal hypoplasia, congenital 300200
Fetal anomalies v0.0 NPR2 Zornitza Stark gene: NPR2 was added
gene: NPR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE
Fetal anomalies v0.0 NPHS1 Zornitza Stark gene: NPHS1 was added
gene: NPHS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to NEPHROTIC SYNDROME TYPE 1
Fetal anomalies v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to NEPHRONOPHTHISIS TYPE 4
Fetal anomalies v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to RENAL-HEPATIC-PANCREATIC DYSPLASIA; NEPHRONOPHTHISIS TYPE 3; MECKEL SYNDROME TYPE 7
Fetal anomalies v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to NEPHRONOPHTHISIS TYPE 1; JOUBERT SYNDROME TYPE 4; SENIOR-LOKEN SYNDROME TYPE 1
Fetal anomalies v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to NIEMANN-PICK DISEASE, TYPE C2
Fetal anomalies v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to NIEMANN-PICK DISEASE, TYPE C1
Fetal anomalies v0.0 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME
Fetal anomalies v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH1 were set to ADAMS OLIVER SYNDROME; LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION
Fetal anomalies v0.0 NOG Zornitza Stark gene: NOG was added
gene: NOG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOG were set to SYMPHALANGISM PROXIMAL SYNDROME; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
Fetal anomalies v0.0 NODAL Zornitza Stark gene: NODAL was added
gene: NODAL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NODAL were set to HETEROTAXY SYNDROME
Fetal anomalies v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
Fetal anomalies v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-5 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5; TETRALOGY OF FALLOT; ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
Fetal anomalies v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NIPBL were set to CORNELIA DE LANGE SYNDROME TYPE 1
Fetal anomalies v0.0 NHS Zornitza Stark gene: NHS was added
gene: NHS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NHS were set to CATARACT CONGENITAL X-LINKED; NANCE-HORAN SYNDROME
Fetal anomalies v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291
Fetal anomalies v0.0 NFIX Zornitza Stark gene: NFIX was added
gene: NFIX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NFIX were set to SOTOS-LIKE SYNDROME; MARSHALL-SMITH SYNDROME
Fetal anomalies v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NF1 were set to FAMILIAL SPINAL NEUROFIBROMATOSIS; NEUROFIBROMATOSIS-NOONAN SYNDROME; WATSON SYNDROME; NEUROFIBROMATOSIS TYPE 1
Fetal anomalies v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to SIALIDOSIS
Fetal anomalies v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to SHORT RIB-POLYDACTYLY SYNDROME, TYPE II; Short-rib thoracic dysplasia 6 with or without polydactyly, 263520; SHORT RIB-POLYDACTYLY SYNDORME, TYPE II
Fetal anomalies v0.0 NECTIN4 Zornitza Stark gene: NECTIN4 was added
gene: NECTIN4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN4 were set to ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
Fetal anomalies v0.0 NEB Zornitza Stark gene: NEB was added
gene: NEB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY
Fetal anomalies v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF5 were set to 30266093; 18940309; 21620786
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238
Fetal anomalies v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NDP were set to 30125416
Phenotypes for gene: NDP were set to NORRIE DISEASE
Fetal anomalies v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDE1 were set to LISSENCEPHALY 4
Fetal anomalies v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to NIJMEGEN BREAKAGE SYNDROME
Fetal anomalies v0.0 NBAS Zornitza Stark gene: NBAS was added
gene: NBAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBAS were set to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
Fetal anomalies v0.0 NANS Zornitza Stark gene: NANS was added
gene: NANS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NANS were set to infantile-onset severe developmental delay and skeletal dysplasia
Fetal anomalies v0.0 NALCN Zornitza Stark gene: NALCN was added
gene: NALCN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NALCN were set to HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY
Fetal anomalies v0.0 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to SCHINDLER DISEASE; KANZAKI DISEASE
Fetal anomalies v0.0 NACC1 Zornitza Stark gene: NACC1 was added
gene: NACC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Fetal anomalies v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NAA10 were set to X-linked anophthalmia syndrome/Lenz; X-linked anophthalmia syndrome; NONPECIFIC SEVERE ID; OGDEN SYNDROME
Fetal anomalies v0.0 MYT1 Zornitza Stark gene: MYT1 was added
gene: MYT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYT1 were set to 28612832; 27358179
Phenotypes for gene: MYT1 were set to Oculo-auriculo-vertebral spectrum (OAVS); OAVS/Goldenhar syndrome
Mode of pathogenicity for gene: MYT1 was set to Other
Fetal anomalies v0.0 MYRF Zornitza Stark gene: MYRF was added
gene: MYRF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYRF were set to 30985895; 30070761; 31069960; 29446546; 30532227
Phenotypes for gene: MYRF were set to Congenital diaphragmatic hernia (CDH); Cardiac-urogenital syndrome, 618280; Disorders of sex development (DSD)
Fetal anomalies v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH9 were set to MAY-HEGGLIN ANOMALY; FECHTNER SYNDROME; EPSTEIN SYNDROME; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS; SEBASTIAN SYNDROME; DEAFNESS AUTOSOMAL DOMINANT TYPE 17
Fetal anomalies v0.0 MYH8 Zornitza Stark gene: MYH8 was added
gene: MYH8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE
Fetal anomalies v0.0 MYH6 Zornitza Stark gene: MYH6 was added
gene: MYH6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYH6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14; CARDIOMYOPATHY DILATED TYPE 1EE
Fetal anomalies v0.0 MYH3 Zornitza Stark gene: MYH3 was added
gene: MYH3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2A; DISTAL ARTHROGRYPOSIS TYPE 2B
Fetal anomalies v0.0 MYH11 Zornitza Stark gene: MYH11 was added
gene: MYH11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYH11 were set to 29575632; 25407000; 31427716
Phenotypes for gene: MYH11 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Fetal anomalies v0.0 MYH10 Zornitza Stark gene: MYH10 was added
gene: MYH10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH10 were set to 30712878
Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis
Fetal anomalies v0.0 MYCN Zornitza Stark gene: MYCN was added
gene: MYCN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYCN were set to FEINGOLD SYNDROME TYPE 1
Fetal anomalies v0.0 MYBPC1 Zornitza Stark gene: MYBPC1 was added
gene: MYBPC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYBPC1 were set to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Fetal anomalies v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Fetal akinesia deformation sequence
Fetal anomalies v0.0 MTOR Zornitza Stark gene: MTOR was added
gene: MTOR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome
Fetal anomalies v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS
Fetal anomalies v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED
Fetal anomalies v0.0 MSX2 Zornitza Stark gene: MSX2 was added
gene: MSX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM; CRANIOSYNOSTOSIS, TYPE 2
Fetal anomalies v0.0 MSX1 Zornitza Stark gene: MSX1 was added
gene: MSX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSX1 were set to CLEFT LIP +/- CLEFT PALATE
Fetal anomalies v0.0 MSL3 Zornitza Stark gene: MSL3 was added
gene: MSL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MSL3 were set to 30224647
Phenotypes for gene: MSL3 were set to Basilicata-Akhtar syndrome, 301032; MSL3 syndrome
Fetal anomalies v0.0 MRPS22 Zornitza Stark gene: MRPS22 was added
gene: MRPS22 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS22 were set to 28425981
Phenotypes for gene: MRPS22 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
Fetal anomalies v0.0 MPLKIP Zornitza Stark gene: MPLKIP was added
gene: MPLKIP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1
Fetal anomalies v0.0 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDU1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.0 MOCS2 Zornitza Stark gene: MOCS2 was added
gene: MOCS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to MOLYBDENUM COFACTOR DEFICIENCY
Fetal anomalies v0.0 MOCS1 Zornitza Stark gene: MOCS1 was added
gene: MOCS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to MOLYBDENUM COFACTOR DEFICIENCY
Fetal anomalies v0.0 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MNX1 were set to CURRARINO SYNDROME
Fetal anomalies v0.0 MMP21 Zornitza Stark gene: MMP21 was added
gene: MMP21 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP21 were set to MMP21-associated heterotaxy
Fetal anomalies v0.0 MMP13 Zornitza Stark gene: MMP13 was added
gene: MMP13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MMP13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE; METAPHYSEAL ANADYSPLASIA TYPE 1
Fetal anomalies v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD
Fetal anomalies v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE
Fetal anomalies v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY
Fetal anomalies v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS
Fetal anomalies v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to MECKEL SYNDROME TYPE 1; BARDET-BIEDL SYNDROME TYPE 13
Fetal anomalies v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to BARDET-BIEDL SYNDROME TYPE 6; MCKUSICK-KAUFMAN SYNDROME
Fetal anomalies v0.0 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID1 were set to OPITZ G/BBB SYNDROME, X-LINKED
Fetal anomalies v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to KEUTEL SYNDROME
Fetal anomalies v0.0 MFSD2A Zornitza Stark gene: MFSD2A was added
gene: MFSD2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD2A were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Fetal anomalies v0.0 MFRP Zornitza Stark gene: MFRP was added
gene: MFRP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFRP were set to MICROPHTHALMIA ISOLATED TYPE 5; NANOPHTHALMOS 2
Fetal anomalies v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 2
Fetal anomalies v0.0 MEGF8 Zornitza Stark gene: MEGF8 was added
gene: MEGF8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to CARPENTER SYNDROME
Fetal anomalies v0.0 MEGF10 Zornitza Stark gene: MEGF10 was added
gene: MEGF10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA
Fetal anomalies v0.0 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS
Fetal anomalies v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to LUJAN-FRYNS SYNDROME; OPITZ-KAVEGGIA SYNDROME
Fetal anomalies v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1
Fetal anomalies v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV
Fetal anomalies v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome 308205; Keratosis follicularis spinulosa decalvans, X-linked 308800
Fetal anomalies v0.0 MATN3 Zornitza Stark gene: MATN3 was added
gene: MATN3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5
Fetal anomalies v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC SYNDROME 1
Fetal anomalies v0.0 MAPRE2 Zornitza Stark gene: MAPRE2 was added
gene: MAPRE2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAPRE2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MAPRE2 were set to 31903734; 31502381; 26637975
Phenotypes for gene: MAPRE2 were set to Symmetric circumferential skin creases, congenital, 2, 616734
Fetal anomalies v0.0 MAP3K1 Zornitza Stark gene: MAP3K1 was added
gene: MAP3K1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAP3K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP3K1 were set to 46XY SEX REVERSAL 6
Fetal anomalies v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.0 MAGEL2 Zornitza Stark gene: MAGEL2 was added
gene: MAGEL2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MAGEL2 were set to 26365340; 27195816
Phenotypes for gene: MAGEL2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA; Schaaf-Yang syndrome, 615547; Schaaf-Yang syndrome
Fetal anomalies v0.0 MAFB Zornitza Stark gene: MAFB was added
gene: MAFB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
Fetal anomalies v0.0 MAF Zornitza Stark gene: MAF was added
gene: MAF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAF were set to CATARACT CONGENITAL CERULEAN TYPE 4; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED; CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
Fetal anomalies v0.0 MAB21L2 Zornitza Stark gene: MAB21L2 was added
gene: MAB21L2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MAB21L2 were set to MICROPHTHALMIA, SYNDROMIC 14
Fetal anomalies v0.0 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LZTR1 were set to Noonan syndrome 10, 616564; Fetal hydrops
Fetal anomalies v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 615994
Fetal anomalies v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to CHEDIAK-HIGASHI SYNDROME
Fetal anomalies v0.0 LTBP4 Zornitza Stark gene: LTBP4 was added
gene: LTBP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC 613177
Fetal anomalies v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP3 were set to PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
Fetal anomalies v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA
Fetal anomalies v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to HIGH BONE MASS TRAIT; ENDOSTEAL HYPEROSTOSIS WORTH TYPE; VITREORETINOPATHY EXUDATIVE TYPE 4; OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1; OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
Fetal anomalies v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to CENANI-LENZ SYNDACTYLY SYNDROME
Fetal anomalies v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to DONNAI-BARROW SYNDROME
Fetal anomalies v0.0 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LMX1B were set to NAIL-PATELLA SYNDROME
Fetal anomalies v0.0 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 616165
Fetal anomalies v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to LETHAL TIGHT SKIN CONTRACTURE SYNDROME; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; HUTCHINSON-GILFORD PROGERIA SYNDROME; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; HEART-HAND SYNDROME SLOVENIAN TYPE; CARDIOMYOPATHY DILATED TYPE 1A; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B
Fetal anomalies v0.0 LMBRD1 Zornitza Stark gene: LMBRD1 was added
gene: LMBRD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF
Fetal anomalies v0.0 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LMBR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMBR1 were set to Acheiropody 200500; Triphalangeal thumb, type I 174500; Laurin-Sandrow syndrome 135750; Triphalangeal thumb-polysyndactyly syndrome 174500; Hypoplastic or aplastic tibia with polydactyly 188740; Polydactyly, preaxial type II 174500; Syndactyly, type IV 186200
Fetal anomalies v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPA were set to 12666227
Phenotypes for gene: LIPA were set to Wolman disease, 278000; Fetal hydrops; Lysosomal Acid Lipase Deficiency
Fetal anomalies v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION; LIG4 SYNDROME
Fetal anomalies v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Schwartz-Jampel type 2 syndrome; Stuve-Wiedemann syndrome
Fetal anomalies v0.0 LHX4 Zornitza Stark gene: LHX4 was added
gene: LHX4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LHX4 were set to LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3
Fetal anomalies v0.0 LGI4 Zornitza Stark gene: LGI4 was added
gene: LGI4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA
Fetal anomalies v0.0 LFNG Zornitza Stark gene: LFNG was added
gene: LFNG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3
Fetal anomalies v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
Fetal anomalies v0.0 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARP7 were set to ALAZAMI SYNDROME
Fetal anomalies v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6
Fetal anomalies v0.0 LAMC3 Zornitza Stark gene: LAMC3 was added
gene: LAMC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC3 were set to OCCIPITAL CORTICAL MALFORMATIONS
Fetal anomalies v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY
Fetal anomalies v0.0 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY
Fetal anomalies v0.0 L2HGDH Zornitza Stark gene: L2HGDH was added
gene: L2HGDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA
Fetal anomalies v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: L1CAM were set to 30712878; 28425981
Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME; PARTIAL AGENESIS OF THE CORPUS CALLOSUM; HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS; SPASTIC PARAPLEGIA X-LINKED TYPE 1
Fetal anomalies v0.0 KYNU Zornitza Stark gene: KYNU was added
gene: KYNU was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 28792876
Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2 617661
Fetal anomalies v0.0 KRIT1 Zornitza Stark gene: KRIT1 was added
gene: KRIT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRIT1 were set to 28749478
Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1
Fetal anomalies v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to NOONAN SYNDROME TYPE 3; CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2D were set to KABUKI SYNDROME
Fetal anomalies v0.0 KMT2C Zornitza Stark gene: KMT2C was added
gene: KMT2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2C were set to 29276005; 22726846
Phenotypes for gene: KMT2C were set to INTELLECTUAL DISABILITY; Kleefstra syndrome 2 617768
Fetal anomalies v0.0 KMT2A Zornitza Stark gene: KMT2A was added
gene: KMT2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome, OMIM:605130
Fetal anomalies v0.0 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy 615731
Fetal anomalies v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE
Fetal anomalies v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KLF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLF1 were set to 28361594; 25724378
Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis
Mode of pathogenicity for gene: KLF1 was set to Other
Fetal anomalies v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; ACROCALLOSAL SYNDROME
Fetal anomalies v0.0 KIF22 Zornitza Stark gene: KIF22 was added
gene: KIF22 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF22 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Fetal anomalies v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
Fetal anomalies v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to NESCAV SYNDROME, 614255; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213
Fetal anomalies v0.0 KIF11 Zornitza Stark gene: KIF11 was added
gene: KIF11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF11 were set to AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY
Fetal anomalies v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1109 were set to 28749478; 30485398; 29290337
Phenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures; Alkuraya-Kucinskas syndrome, 617822
Fetal anomalies v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to JOUBERT SYNDROME
Fetal anomalies v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: KDM6A were set to KABUKI SYNDROME 2
Fetal anomalies v0.0 KDM5C Zornitza Stark gene: KDM5C was added
gene: KDM5C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED
Fetal anomalies v0.0 KCTD1 Zornitza Stark gene: KCTD1 was added
gene: KCTD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME
Fetal anomalies v0.0 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNJ2 were set to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222
Fetal anomalies v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome 241200
Fetal anomalies v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6B were set to GENITOPATELLAR SYNDROME; BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
Fetal anomalies v0.0 KAT6A Zornitza Stark gene: KAT6A was added
gene: KAT6A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
Fetal anomalies v0.0 KANSL1 Zornitza Stark gene: KANSL1 was added
gene: KANSL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KANSL1 were set to CHROMOSOME 17Q21.31 MICRODELETION SYNDROME
Fetal anomalies v0.0 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JAG1 were set to ALAGILLE SYNDROME
Fetal anomalies v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730
Fetal anomalies v0.0 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730
Fetal anomalies v0.0 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA3 were set to INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
Fetal anomalies v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME
Fetal anomalies v0.0 IRF6 Zornitza Stark gene: IRF6 was added
gene: IRF6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IRF6 were set to VAN DER WOUDE SYNDROME; POPLITEAL PTERYGIUM SYNDROME
Fetal anomalies v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5 609254
Fetal anomalies v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2 602088
Fetal anomalies v0.0 INTU Zornitza Stark gene: INTU was added
gene: INTU was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTU were set to 28289185; 29451301; 30266093
Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly, 617925
Fetal anomalies v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to DONOHUE SYNDROME 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549; Hyperinsulinemic hypoglycemia, familial, 5 609968; Rabson-Mendenhall syndrome 262190
Fetal anomalies v0.0 INPPL1 Zornitza Stark gene: INPPL1 was added
gene: INPPL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to OPSISMODYSPLASIA
Fetal anomalies v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS; JOUBERT SYNDROME TYPE 1
Fetal anomalies v0.0 IMPAD1 Zornitza Stark gene: IMPAD1 was added
gene: IMPAD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE
Fetal anomalies v0.0 IL1RAPL1 Zornitza Stark gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21
Fetal anomalies v0.0 IL11RA Zornitza Stark gene: IL11RA was added
gene: IL11RA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis; Autosomal Recessive Craniosynostosis; Craniosynostosis and dental anomalies, 614188
Fetal anomalies v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: IKBKG were set to ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA; SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1; ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED; INCONTINENTIA PIGMENTI; IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
Fetal anomalies v0.0 IHH Zornitza Stark gene: IHH was added
gene: IHH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IHH were set to ACROCAPITOFEMORAL DYSPLASIA; BRACHYDACTYLY, TYPE A1
Fetal anomalies v0.0 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Fetal anomalies v0.0 IGF2 Zornitza Stark gene: IGF2 was added
gene: IGF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: IGF2 were set to BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME
Fetal anomalies v0.0 IGF1R Zornitza Stark gene: IGF1R was added
gene: IGF1R was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
Fetal anomalies v0.0 IGF1 Zornitza Stark gene: IGF1 was added
gene: IGF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
Fetal anomalies v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2
Fetal anomalies v0.0 IFT43 Zornitza Stark gene: IFT43 was added
gene: IFT43 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3
Fetal anomalies v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to JEUNE SYNDROME; MAINZER-SALDINO SYNDROME
Fetal anomalies v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to MAINZER-SALDINO SYNDROME
Fetal anomalies v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA
Fetal anomalies v0.0 IFITM5 Zornitza Stark gene: IFITM5 was added
gene: IFITM5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V
Fetal anomalies v0.0 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFIH1 were set to 25542954
Phenotypes for gene: IFIH1 were set to SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7
Mode of pathogenicity for gene: IFIH1 was set to Other
Fetal anomalies v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome 614231
Fetal anomalies v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1H; MUCOPOLYSACCHARIDOSIS TYPE 1H/S; MUCOPOLYSACCHARIDOSIS TYPE 1S
Fetal anomalies v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2
Fetal anomalies v0.0 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS were set to 27426735
Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Fetal anomalies v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1
Fetal anomalies v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE
Fetal anomalies v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, MONDO:0009717; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140; Schwartz-Jampel syndrome, type 1, OMIM:255800; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410
Fetal anomalies v0.0 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4
Fetal anomalies v0.0 HSF4 Zornitza Stark gene: HSF4 was added
gene: HSF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSF4 were set to CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE
Fetal anomalies v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME; D-BIFUNCTIONAL PROTEIN DEFICIENCY
Fetal anomalies v0.0 HSD17B3 Zornitza Stark gene: HSD17B3 was added
gene: HSD17B3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia 264300
Fetal anomalies v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HRAS were set to 28425981
Phenotypes for gene: HRAS were set to CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES; COSTELLO SYNDROME
Fetal anomalies v0.0 HR Zornitza Stark gene: HR was added
gene: HR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HR were set to ATRICHIA WITH PAPULAR LESIONS; ALOPECIA UNIVERSALIS
Fetal anomalies v0.0 HPSE2 Zornitza Stark gene: HPSE2 was added
gene: HPSE2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPSE2 were set to UROFACIAL SYNDROME
Fetal anomalies v0.0 HOXD13 Zornitza Stark gene: HOXD13 was added
gene: HOXD13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HOXD13 were set to SYNDACTYLY TYPE 5; BRACHYDACTYLY-SYNDACTYLY SYNDROME; SYNPOLYDACTYLY 1; VACTERL ASSOCIATION; BRACHYDACTYLY TYPE D; BRACHYDACTYLY TYPE E
Fetal anomalies v0.0 HOXA13 Zornitza Stark gene: HOXA13 was added
gene: HOXA13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HOXA13 were set to HAND-FOOT-GENITAL SYNDROME
Fetal anomalies v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to BOSLEY-SALIH-ALORAINY SYNDROME; ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
Fetal anomalies v0.0 HNRNPK Zornitza Stark gene: HNRNPK was added
gene: HNRNPK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPK were set to 30998304; 26173930; 29904177; 26954065; 28771707
Phenotypes for gene: HNRNPK were set to Au-Kline syndrome, 616580
Fetal anomalies v0.0 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF4A were set to HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1; ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY
Fetal anomalies v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME
Fetal anomalies v0.0 HIVEP2 Zornitza Stark gene: HIVEP2 was added
gene: HIVEP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIVEP2 were set to HIVEP2 associated syndromic developmental delay with intellectual disability
Fetal anomalies v0.0 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to HIBCH DEFICIENCY
Fetal anomalies v0.0 HES7 Zornitza Stark gene: HES7 was added
gene: HES7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686
Fetal anomalies v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HDAC8 were set to WILSON-TURNER SYNDROME; CORNELIA DE LANGE-LIKE SYNDROME
Fetal anomalies v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to COBALAMIN DISORDER; MENTAL RETARDATION, X-LINKED 3
Fetal anomalies v0.0 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HCCS were set to 30266093
Phenotypes for gene: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7
Fetal anomalies v0.0 HBA2 Zornitza Stark gene: HBA2 was added
gene: HBA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA2 were set to Thalassemia, alpha-, 604131; Fetal hydrops
Fetal anomalies v0.0 HBA1 Zornitza Stark gene: HBA1 was added
gene: HBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA1 were set to Thalassemia, alpha-, 604131; Fetal hydrops
Fetal anomalies v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.0 HAAO Zornitza Stark gene: HAAO was added
gene: HAAO was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 617660
Fetal anomalies v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7
Fetal anomalies v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to MECONIUM ILEUS; FAMILIAL DIARRHEA DIARRHEA 6
Fetal anomalies v0.0 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY
Fetal anomalies v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Fetal anomalies v0.0 GRIP1 Zornitza Stark gene: GRIP1 was added
gene: GRIP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRIP1 were set to 22510445
Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000
Fetal anomalies v0.0 GRIN2B Zornitza Stark gene: GRIN2B was added
gene: GRIN2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2B were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; AUTISM; EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 GRIN1 Zornitza Stark gene: GRIN1 was added
gene: GRIN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN1 were set to intellectual disability, autosomal dominant 8 MONDO:0013655; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
Fetal anomalies v0.0 GRHL3 Zornitza Stark gene: GRHL3 was added
gene: GRHL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRHL3 were set to VAN DER WOUDE SYNDROME
Fetal anomalies v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to CHUDLEY-MCCULLOUGH SYNDROME
Fetal anomalies v0.0 GPI Zornitza Stark gene: GPI was added
gene: GPI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470
Fetal anomalies v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Fetal anomalies v0.0 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum
Fetal anomalies v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D
Fetal anomalies v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C
Fetal anomalies v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A; MUCOLIPIDOSIS TYPE II
Fetal anomalies v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2
Fetal anomalies v0.0 GNB1 Zornitza Stark gene: GNB1 was added
gene: GNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855
Fetal anomalies v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAS were set to ALBRIGHT HEREDITARY OSTEODYSTROPHY; GNAS HYPERFUNCTION; PSEUDOHYPOPARATHYROIDISM TYPE 1B; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
Fetal anomalies v0.0 GNAO1 Zornitza Stark gene: GNAO1 was added
gene: GNAO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAO1 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 GNAI3 Zornitza Stark gene: GNAI3 was added
gene: GNAI3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
Fetal anomalies v0.0 GLUL Zornitza Stark gene: GLUL was added
gene: GLUL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY
Fetal anomalies v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM
Fetal anomalies v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were set to GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PALLISTER-HALL SYNDROME; POSTAXIAL POLYDACTYLY TYPE A; PREAXIAL POLYDACTYLY TYPE IV
Fetal anomalies v0.0 GLI2 Zornitza Stark gene: GLI2 was added
gene: GLI2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI2 were set to GLI2-RELATED HOLOPROSENCEPHALY
Fetal anomalies v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE
Fetal anomalies v0.0 GLDN Zornitza Stark gene: GLDN was added
gene: GLDN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDN were set to Lethal arthroogryposis
Fetal anomalies v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to GLDC-RELATED GLYCINE ENCEPHALOPATHY
Fetal anomalies v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to GM1-GANGLIOSIDOSIS TYPE 1; GM1-GANGLIOSIDOSIS TYPE 2; GM1-GANGLIOSIDOSIS TYPE 3; MUCOPOLYSACCHARIDOSIS TYPE 4B
Fetal anomalies v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Fabry disease, 301500
Fetal anomalies v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC; SPASTIC PARAPLEGIA, 44; LEUKODYSTROPHY, HYPOMYELINATING, 2
Fetal anomalies v0.0 GJA8 Zornitza Stark gene: GJA8 was added
gene: GJA8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1; CATARACT-MICROCORNEA SYNDROME
Fetal anomalies v0.0 GJA3 Zornitza Stark gene: GJA3 was added
gene: GJA3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3
Fetal anomalies v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA
Fetal anomalies v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
Fetal anomalies v0.0 GFAP Zornitza Stark gene: GFAP was added
gene: GFAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to ALEXANDER DISEASE
Fetal anomalies v0.0 GDF6 Zornitza Stark gene: GDF6 was added
gene: GDF6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GDF6 were set to 32737436
Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1; MICROPHTHALMIA ISOLATED TYPE 4; Syndromic CAKUT
Fetal anomalies v0.0 GDF5 Zornitza Stark gene: GDF5 was added
gene: GDF5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 2; ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE; BRACHYDACTYLY TYPE A1; SYMPHALANGISM PROXIMAL SYNDROME; DU PAN SYNDROME; BRACHYDACTYLY TYPE C; ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE; BRACHYDACTYLY TYPE A2
Fetal anomalies v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDF1 were set to 17924340; PMID: 20413652; 28991257
Phenotypes for gene: GDF1 were set to Right atrial isomerism (Ivemark); Congenital heart defects, multiple types
Fetal anomalies v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1
Fetal anomalies v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 21620786
Phenotypes for gene: GBE1 were set to Fetal akinesia deformation sequence; Glycogen storage disease IV, OMIM:232500
Fetal anomalies v0.0 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
Fetal anomalies v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 30712880
Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE
Fetal anomalies v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5; PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS; ATRIAL SEPTAL DEFECT 9
Fetal anomalies v0.0 GATA4 Zornitza Stark gene: GATA4 was added
gene: GATA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA4 were set to ATRIAL SEPTAL DEFECT TYPE 2
Fetal anomalies v0.0 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA2 were set to EMBERGER SYNDROME
Fetal anomalies v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A
Fetal anomalies v0.0 GALK1 Zornitza Stark gene: GALK1 was added
gene: GALK1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to GALACTOSEMIA II
Fetal anomalies v0.0 GALE Zornitza Stark gene: GALE was added
gene: GALE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALE were set to EPIMERASE-DEFICIENCY GALACTOSEMIA
Fetal anomalies v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, OMIM:245200
Fetal anomalies v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to GLYCOGEN STORAGE DISEASE TYPE II
Fetal anomalies v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome; Neutropenia, severe congenital 4, autosomal recessive
Fetal anomalies v0.0 FYCO1 Zornitza Stark gene: FYCO1 was added
gene: FYCO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
Fetal anomalies v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FTL were set to HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Fetal anomalies v0.0 FRMD4A Zornitza Stark gene: FRMD4A was added
gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071
Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
Fetal anomalies v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to FRASER SYNDROME
Fetal anomalies v0.0 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM1 were set to MANITOBA OCULOTRICHOANAL SYNDROME
Fetal anomalies v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to FRASER SYNDROME
Fetal anomalies v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FOXP3 were set to 28425981
Phenotypes for gene: FOXP3 were set to IPEX SYNDROME
Fetal anomalies v0.0 FOXG1 Zornitza Stark gene: FOXG1 was added
gene: FOXG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630
Phenotypes for gene: FOXG1 were set to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270
Fetal anomalies v0.0 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
Fetal anomalies v0.0 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXE3 were set to ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA
Fetal anomalies v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME
Fetal anomalies v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC2 were set to LYMPHEDEMA-DISTICHIASIS SYNDROME; HEREDITARY LYMPHEDEMA II
Fetal anomalies v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXC1 were set to 32720677
Phenotypes for gene: FOXC1 were set to AXENFELD-RIEGER SYNDROME TYPE 3; IRIDOGONIODYSGENESIS ANOMALY; PETERS ANOMALY
Fetal anomalies v0.0 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
Fetal anomalies v0.0 FLVCR2 Zornitza Stark gene: FLVCR2 was added
gene: FLVCR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR2 were set to PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME
Fetal anomalies v0.0 FLT4 Zornitza Stark gene: FLT4 was added
gene: FLT4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FLT4 were set to MILROY DISEASE
Fetal anomalies v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to BOOMERANG DYSPLASIA; SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; ATELOSTEOGENESIS TYPE 3; AUTOSOMAL DOMINANT LARSEN SYNDROME; ATELOSTEOGENESIS TYPE 1
Fetal anomalies v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FLNA were set to 30712878; 28425981
Phenotypes for gene: FLNA were set to PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1; EPILEPTIC ENCEPHALOPATHY; FG SYNDROME TYPE 2; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; MELNICK-NEEDLES SYNDROME; FRONTOMETAPHYSEAL DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 2; TERMINAL OSSEOUS DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 1
Fetal anomalies v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4; CARDIOMYOPATHY DILATED TYPE 1X; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4
Fetal anomalies v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5
Fetal anomalies v0.0 FKBP14 Zornitza Stark gene: FKBP14 was added
gene: FKBP14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Fetal anomalies v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to FUMARASE DEFICIENCY
Fetal anomalies v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR3 were set to CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; ACHONDROPLASIA; THANATOPHORIC DYSPLASIA TYPE 2; HYPOCHONDROPLASIA; MUENKE SYNDROME; THANATOPHORIC DYSPLASIA TYPE 1; CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
Fetal anomalies v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGFR2 were set to 28425981
Phenotypes for gene: FGFR2 were set to JACKSON-WEISS SYNDROME; FAMILIAL SCAPHOCEPHALY SYNDROME; CROUZON SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; BEARE-STEVENSON CUTIS GYRATA SYNDROME; ACROCEPHALOSYNDACTYLY TYPE V; APERT SYNDROME; ANTLEY-BIXLER SYNDROME
Fetal anomalies v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR1 were set to Hartsfield syndrome; Encephalocraniocutaneous lipomatosis; OSTEOGLOPHONIC DYSPLASIA; KALLMANN SYNDROME TYPE 2; PFEIFFER SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.0 FGF8 Zornitza Stark gene: FGF8 was added
gene: FGF8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGF8 were set to 20463092; 18596921; 24280688
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia 612702
Fetal anomalies v0.0 FGF3 Zornitza Stark gene: FGF3 was added
gene: FGF3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGF3 were set to DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA
Fetal anomalies v0.0 FGF10 Zornitza Stark gene: FGF10 was added
gene: FGF10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF10 were set to LADD SYNDROME
Fetal anomalies v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME
Fetal anomalies v0.0 FBXL4 Zornitza Stark gene: FBXL4 was added
gene: FBXL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Fetal anomalies v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBN2 were set to 25558065; 7493032; 28383543; 33571691
Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
Fetal anomalies v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 30266093
Phenotypes for gene: FBN1 were set to MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; MARFAN SYNDROME; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Fetal anomalies v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa 219100; Cutis laxa 614434
Fetal anomalies v0.0 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
Fetal anomalies v0.0 FAR1 Zornitza Stark gene: FAR1 was added
gene: FAR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Fetal anomalies v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to FANCI-RELATED FANCONI ANEMIA; FANCONI ANEMIA
Fetal anomalies v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to FANCONI ANEMIA, COMPLEMENTATION GROUP G
Fetal anomalies v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to FANCONI ANEMIA, COMPLEMENTATION GROUP F
Fetal anomalies v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to FANCONI ANEMIA, COMPLEMENTATION GROUP E
Fetal anomalies v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP D2
Fetal anomalies v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to FANCONI ANEMIA, COMPLEMENTATION GROUP C
Fetal anomalies v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FANCB were set to 28425981
Phenotypes for gene: FANCB were set to FANCB-RELATED FANCONI ANEMIA
Fetal anomalies v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to FANCONI ANEMIA, COMPLEMENTATION GROUP A
Fetal anomalies v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FAM58A were set to STAR SYNDROME
Fetal anomalies v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to RAINE SYNDROME
Fetal anomalies v0.0 FAM20A Zornitza Stark gene: FAM20A was added
gene: FAM20A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20A were set to AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME
Fetal anomalies v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 5
Fetal anomalies v0.0 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FAM111A were set to KENNY-CAFFEY SYNDROME
Fetal anomalies v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to TYROSINEMIA TYPE 1
Fetal anomalies v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EZH2 were set to WEAVER SYNDROME 2
Fetal anomalies v0.0 EYA1 Zornitza Stark gene: EYA1 was added
gene: EYA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EYA1 were set to BRANCHIOOTORENAL SYNDROME TYPE 1
Fetal anomalies v0.0 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EXT2 were set to EXOSTOSES, MULTIPLE, TYPE 2
Fetal anomalies v0.0 EXT1 Zornitza Stark gene: EXT1 was added
gene: EXT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EXT1 were set to HEREDITARY MULTIPLE EXOSTOSES TYPE 1; TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2
Fetal anomalies v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1
Fetal anomalies v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME
Fetal anomalies v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME
Fetal anomalies v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to GLUTARIC ACIDURIA TYPE 2C
Fetal anomalies v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to GLUTARIC ACIDURIA TYPE 2B
Fetal anomalies v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to GLUTARIC ACIDURIA TYPE 2A
Fetal anomalies v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to ROBERTS SYNDROME; SC PHOCOMELIA SYNDROME
Fetal anomalies v0.0 ERF Zornitza Stark gene: ERF was added
gene: ERF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ERF were set to Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; COMPLEX CRANIOSYNOSTOSIS
Fetal anomalies v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to COCKAYNE SYNDROME TYPE A
Fetal anomalies v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to COCKAYNE SYNDROME TYPE B; DE SANCTIS-CACCHIONE SYNDROME; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1; UV-SENSITIVE SYNDROME
Fetal anomalies v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC5 were set to 24700531; 32557569; 32052936
Phenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Fetal anomalies v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to PRIMORDIAL DWARFISM; Xeroderma pigmentosum, group F, 278760; XERODERMA PIGMENTOSUM, GROUP F; XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q
Fetal anomalies v0.0 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC3 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B; TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Fetal anomalies v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D; TRICHOTHIODYSTROPHY PHOTOSENSITIVE; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2
Fetal anomalies v0.0 ERCC1 Zornitza Stark gene: ERCC1 was added
gene: ERCC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC1 were set to FANCONI ANEMIA; CEREBROOCULOFACIOSKELETAL SYNDROME 4
Fetal anomalies v0.0 EPHB4 Zornitza Stark gene: EPHB4 was added
gene: EPHB4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPHB4 were set to 27400125
Phenotypes for gene: EPHB4 were set to hydrops fetalis gene
Fetal anomalies v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Fetal anomalies v0.0 EP300 Zornitza Stark gene: EP300 was added
gene: EP300 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EP300 were set to RUBINSTEIN-TAYBI SYNDROME TYPE 2
Fetal anomalies v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to ADAMS OLIVER SYNDROME
Fetal anomalies v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EMD were set to 26247046
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Fetal anomalies v0.0 ELOVL4 Zornitza Stark gene: ELOVL4 was added
gene: ELOVL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELOVL4 were set to ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
Fetal anomalies v0.0 ELN Zornitza Stark gene: ELN was added
gene: ELN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELN were set to ELN-RELATED CUTIS LAXA; SUPRAVALVAR AORTIC STENOSIS
Fetal anomalies v0.0 ELAC2 Zornitza Stark gene: ELAC2 was added
gene: ELAC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY
Fetal anomalies v0.0 EIF4A3 Zornitza Stark gene: EIF4A3 was added
gene: EIF4A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF4A3 were set to RICHIERI-COSTA-PEREIRA SYNDROME
Fetal anomalies v0.0 EIF2B3 Zornitza Stark gene: EIF2B3 was added
gene: EIF2B3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B3 were set to 28597716
Phenotypes for gene: EIF2B3 were set to vanishing white matter disease 603896
Fetal anomalies v0.0 EIF2B2 Zornitza Stark gene: EIF2B2 was added
gene: EIF2B2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 30266093; 28597716
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896
Fetal anomalies v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to WOLCOTT-RALLISON SYNDROME
Fetal anomalies v0.0 EHMT1 Zornitza Stark gene: EHMT1 was added
gene: EHMT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EHMT1 were set to 9Q SUBTELOMERIC DELETION SYNDROME
Fetal anomalies v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY
Fetal anomalies v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EFNB1 were set to CRANIOFRONTONASAL SYNDROME
Fetal anomalies v0.0 EDNRB Zornitza Stark gene: EDNRB was added
gene: EDNRB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EDNRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EDNRB were set to ABCD SYNDROME
Fetal anomalies v0.0 EDNRA Zornitza Stark gene: EDNRA was added
gene: EDNRA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
Fetal anomalies v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA TYPE 1; TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1
Fetal anomalies v0.0 ECEL1 Zornitza Stark gene: ECEL1 was added
gene: ECEL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECEL1 were set to DISTAL ARTHROGRYPOSIS TYPE 5D
Fetal anomalies v0.0 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EBP were set to CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
Fetal anomalies v0.0 EBF3 Zornitza Stark gene: EBF3 was added
gene: EBF3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EBF3 were set to hypotonia, ataxia, and delayed development syndrome MONDO:0015021; Hypotonia, ataxia, and delayed development syndrome OMIM:617330
Fetal anomalies v0.0 DYRK1A Zornitza Stark gene: DYRK1A was added
gene: DYRK1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Fetal anomalies v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to ASPHYXIATING THORACIC DYSTROPHY TYPE 3; SHORT RIB-POLYDACTYLY SYNDROME TYPE 3
Fetal anomalies v0.0 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD; SEVERE ID WITH NEURONAL MIGRATION DISORDER
Fetal anomalies v0.0 DYM Zornitza Stark gene: DYM was added
gene: DYM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to SMITH-MCCORT DYSPLASIA; DYGGVE-MELCHIOR-CLAUSEN SYNDROME
Fetal anomalies v0.0 DVL3 Zornitza Stark gene: DVL3 was added
gene: DVL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DVL3 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Fetal anomalies v0.0 DVL1 Zornitza Stark gene: DVL1 was added
gene: DVL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DVL1 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Fetal anomalies v0.0 DSTYK Zornitza Stark gene: DSTYK was added
gene: DSTYK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DSTYK were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
Fetal anomalies v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSP were set to 30993396
Phenotypes for gene: DSP were set to Arrhythmogenic right ventricular dysplasia 8 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Skin fragility-woolly hair syndrome 607655; Epidermolysis bullosa, lethal acantholytic 609638; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Keratosis palmoplantaris striata II, 612908
Fetal anomalies v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; DPAGT1-CDG
Fetal anomalies v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 28816422
Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Mode of pathogenicity for gene: DOLK was set to Other
Fetal anomalies v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOK7 were set to 30266093
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; ?Fetal akinesia deformation sequence 3, 618389
Fetal anomalies v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME 2
Fetal anomalies v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
Fetal anomalies v0.0 DNMT3A Zornitza Stark gene: DNMT3A was added
gene: DNMT3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNMT3A were set to OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
Fetal anomalies v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia 244400
Fetal anomalies v0.0 DNAH9 Zornitza Stark gene: DNAH9 was added
gene: DNAH9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to 30471717; 30471718
Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus
Fetal anomalies v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644; heterotaxy
Fetal anomalies v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia 611884
Fetal anomalies v0.0 DNAAF4 Zornitza Stark gene: DNAAF4 was added
gene: DNAAF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA
Fetal anomalies v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763
Fetal anomalies v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia 613193
Fetal anomalies v0.0 DMPK Zornitza Stark gene: DMPK was added
gene: DMPK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DMPK were set to DYSTROPHIA MYOTONICA TYPE 1
Fetal anomalies v0.0 DLL4 Zornitza Stark gene: DLL4 was added
gene: DLL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME 6
Fetal anomalies v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1
Fetal anomalies v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to DKC1-RELATED DYSKERATOSIS CONGENITA; DYSKERATOSIS CONGENITA, X-LINKED
Fetal anomalies v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to PERLMAN SYNDROME
Fetal anomalies v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to POSTAXIAL ACROFACIAL DYSOSTOSIS
Fetal anomalies v0.0 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHFR were set to MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
Fetal anomalies v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 31840946
Phenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME
Fetal anomalies v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to DESMOSTEROLOSIS
Fetal anomalies v0.0 DDX3X Zornitza Stark gene: DDX3X was added
gene: DDX3X was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DDX3X were set to 30266093; 26235985; 25533962
Phenotypes for gene: DDX3X were set to Intellectual disability; INTELLECTUAL DIABILITY; Mental retardation, X-linked 102, 300958
Fetal anomalies v0.0 DDX11 Zornitza Stark gene: DDX11 was added
gene: DDX11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME
Fetal anomalies v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE
Fetal anomalies v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DCX were set to LISSENCEPHALY X-LINKED TYPE 1; SUBCORTICAL BAND HETEROTOPIA X-LINKED
Fetal anomalies v0.0 DCHS1 Zornitza Stark gene: DCHS1 was added
gene: DCHS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
Fetal anomalies v0.0 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Fetal anomalies v0.0 DAG1 Zornitza Stark gene: DAG1 was added
gene: DAG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7
Fetal anomalies v0.0 CYP2U1 Zornitza Stark gene: CYP2U1 was added
gene: CYP2U1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA
Fetal anomalies v0.0 CYP21A2 Zornitza Stark gene: CYP21A2 was added
gene: CYP21A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Fetal anomalies v0.0 CYP1B1 Zornitza Stark gene: CYP1B1 was added
gene: CYP1B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Fetal anomalies v0.0 CYP17A1 Zornitza Stark gene: CYP17A1 was added
gene: CYP17A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency; 17,20-lyase deficiency, isolated
Fetal anomalies v0.0 CYP11B1 Zornitza Stark gene: CYP11B1 was added
gene: CYP11B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP11B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010
Fetal anomalies v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11A1 were set to 28425981
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743
Fetal anomalies v0.0 CWC27 Zornitza Stark gene: CWC27 was added
gene: CWC27 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWC27 were set to 28285769
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa, skeletal anomalies and intellectual disability
Fetal anomalies v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M SYNDROME 1
Fetal anomalies v0.0 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE
Fetal anomalies v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to PYCNODYSOSTOSIS
Fetal anomalies v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 10
Fetal anomalies v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSA were set to 7759227
Phenotypes for gene: CTSA were set to GALACTOSIALIDOSIS
Fetal anomalies v0.0 CTNNB1 Zornitza Stark gene: CTNNB1 was added
gene: CTNNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNNB1 were set to 27915094
Phenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Fetal anomalies v0.0 CTCF Zornitza Stark gene: CTCF was added
gene: CTCF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTCF were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
Fetal anomalies v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
Fetal anomalies v0.0 CSNK2A1 Zornitza Stark gene: CSNK2A1 was added
gene: CSNK2A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CSNK2A1 were set to CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062
Fetal anomalies v0.0 CRYGD Zornitza Stark gene: CRYGD was added
gene: CRYGD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYGD were set to CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3
Fetal anomalies v0.0 CRYGC Zornitza Stark gene: CRYGC was added
gene: CRYGC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT
Fetal anomalies v0.0 CRYBB3 Zornitza Stark gene: CRYBB3 was added
gene: CRYBB3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
Fetal anomalies v0.0 CRYBB2 Zornitza Stark gene: CRYBB2 was added
gene: CRYBB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE; CATARACT, CONGENITAL, CERULEAN TYPE, 2
Fetal anomalies v0.0 CRYBB1 Zornitza Stark gene: CRYBB1 was added
gene: CRYBB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYBB1 were set to CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3
Fetal anomalies v0.0 CRYBA4 Zornitza Stark gene: CRYBA4 was added
gene: CRYBA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2
Fetal anomalies v0.0 CRYBA1 Zornitza Stark gene: CRYBA1 was added
gene: CRYBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES
Fetal anomalies v0.0 CRYAA Zornitza Stark gene: CRYAA was added
gene: CRYAA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATARACT, NUCLEAR
Fetal anomalies v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII 610682
Fetal anomalies v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1 272430
Fetal anomalies v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1; CREBBP intellectual disability without typical RTS features
Fetal anomalies v0.0 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB2 were set to VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Fetal anomalies v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to Myopathy due to CPT II deficiency 255110; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649
Fetal anomalies v0.0 COX7B Zornitza Stark gene: COX7B was added
gene: COX7B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Fetal anomalies v0.0 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ9 were set to 30712880
Phenotypes for gene: COQ9 were set to COENZYME Q10 DEFICIENCY
Fetal anomalies v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7
Fetal anomalies v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC SYNDROME 2
Fetal anomalies v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL9A2 were set to STICKLER SYNDROME, TYPE V; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2
Fetal anomalies v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL9A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL9A1 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6; STICKLER SYNDROME TYPE 4
Fetal anomalies v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to DYSTONIA 27; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
Fetal anomalies v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810
Fetal anomalies v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL6A1 were set to COL6A1 associated myopathy
Fetal anomalies v0.0 COL4A3BP Zornitza Stark gene: COL4A3BP was added
gene: COL4A3BP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 COL4A2 Zornitza Stark gene: COL4A2 was added
gene: COL4A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A2 were set to 32732225
Phenotypes for gene: COL4A2 were set to PORENCEPHALY 2
Fetal anomalies v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A1 were set to 30266093; 32732225; 30712878
Phenotypes for gene: COL4A1 were set to PORENCEPHALY 1
Fetal anomalies v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL3A1 were set to 28742248; 24922459; PMID: 28258187; 27168972; 25205403
Phenotypes for gene: COL3A1 were set to HP:0006496; HP:0002126; HP:0001883
Fetal anomalies v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; ACHONDROGENESIS TYPE 2; SPONDYLOPERIPHERAL DYSPLASIA
Fetal anomalies v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta; Ehlers-Danlos syndrome
Fetal anomalies v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A1 were set to OSTEOGENESIS IMPERFECTA TYPE III; CAFFEY DISEASE; OSTEOGENESIS IMPERFECTA TYPE I; OSTEOGENESIS IMPERFECTA TYPE IIA; EHLERS-DANLOS SYNDROME TYPE VIIA; COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA; EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED
Fetal anomalies v0.0 COL18A1 Zornitza Stark gene: COL18A1 was added
gene: COL18A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL18A1 were set to KNOBLOCH SYNDROME TYPE I
Fetal anomalies v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 13; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; WEISSENBACHER-ZWEYMUELLER SYNDROME; STICKLER SYNDROME TYPE 3; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53
Fetal anomalies v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were set to FIBROCHONDROGENESIS; STICKLER SYNDROME, TYPE II
Fetal anomalies v0.0 COL10A1 Zornitza Stark gene: COL10A1 was added
gene: COL10A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL10A1 were set to SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA
Fetal anomalies v0.0 COG8 Zornitza Stark gene: COG8 was added
gene: COG8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG8 were set to 30690882
Phenotypes for gene: COG8 were set to COG8-CDG
Fetal anomalies v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to COG7-CDG
Fetal anomalies v0.0 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG4 were set to 30290151
Phenotypes for gene: COG4 were set to COG4-CDG; Saul-Wilson syndrome, 618150
Fetal anomalies v0.0 COG1 Zornitza Stark gene: COG1 was added
gene: COG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG1 were set to COG1-CDG
Fetal anomalies v0.0 COASY Zornitza Stark gene: COASY was added
gene: COASY was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COASY were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Fetal anomalies v0.0 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP2 were set to CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME
Fetal anomalies v0.0 CNTNAP1 Zornitza Stark gene: CNTNAP1 was added
gene: CNTNAP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 7
Fetal anomalies v0.0 CNOT3 Zornitza Stark gene: CNOT3 was added
gene: CNOT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CNOT3 were set to CNOT3 syndrome; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
Fetal anomalies v0.0 CNOT1 Zornitza Stark gene: CNOT1 was added
gene: CNOT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to 31006513; 31006510
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments
Fetal anomalies v0.0 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA
Fetal anomalies v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600; CLCN7-RELATED OSTEOPETROSIS
Fetal anomalies v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Fetal anomalies v0.0 CHUK Zornitza Stark gene: CHUK was added
gene: CHUK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHUK were set to COCOON SYNDROME
Fetal anomalies v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
Fetal anomalies v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
Fetal anomalies v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE
Fetal anomalies v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT
Fetal anomalies v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Several associated, probably most relevant is lethal multiple pterygium syndrome 253290
Fetal anomalies v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA1 were set to 18252226; 30177536
Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, 253290; MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE
Fetal anomalies v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type 602541
Fetal anomalies v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD7 were set to CHARGE SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME TYPE 5
Fetal anomalies v0.0 CHD4 Zornitza Stark gene: CHD4 was added
gene: CHD4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome MONDO:0014946; Sifrim-Hitz-Weiss syndrome OMIM:617159
Fetal anomalies v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic 254210
Fetal anomalies v0.0 CHAMP1 Zornitza Stark gene: CHAMP1 was added
gene: CHAMP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHAMP1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis 219700
Fetal anomalies v0.0 CFC1 Zornitza Stark gene: CFC1 was added
gene: CFC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CFC1 were set to 11062482; 11799476
Phenotypes for gene: CFC1 were set to Heterotaxy, visceral, 2, autosomal, 605376; CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS
Fetal anomalies v0.0 CFAP53 Zornitza Stark gene: CFAP53 was added
gene: CFAP53 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 26531781; PMID: 25504577
Phenotypes for gene: CFAP53 were set to inverted spleen; midline liver; Dextrocardia; Heterotaxy, visceral, 6, autosomal recessive; Transposition of the great arteries; gut malrotation
Fetal anomalies v0.0 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP83 were set to INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Fetal anomalies v0.0 CEP57 Zornitza Stark gene: CEP57 was added
gene: CEP57 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP57 were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Fetal anomalies v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to JOUBERT SYNDROME 15
Fetal anomalies v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to LEBER CONGENITAL AMAUROSIS TYPE 10; BARDET-BIEDL SYNDROME TYPE 14; JOUBERT SYNDROME TYPE 5; SENIOR-LOKEN SYNDROME TYPE 6; MECKEL SYNDROME TYPE 4
Fetal anomalies v0.0 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Nephronophthisis 15 614845
Fetal anomalies v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to SECKEL SYNDROME TYPE 5; MICROCEPHALY PRIMARY TYPE 4
Fetal anomalies v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to PMID: 2720821; 25361962
Phenotypes for gene: CEP120 were set to Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly
Fetal anomalies v0.0 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, 616781
Fetal anomalies v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to SECKEL SYNDROME TYPE 4; MICROCEPHALY PRIMARY TYPE 6
Fetal anomalies v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to MEIER-GORLIN SYNDROME 4
Fetal anomalies v0.0 CDON Zornitza Stark gene: CDON was added
gene: CDON was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDON were set to HOLOPROSENCEPHALY 11
Fetal anomalies v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to IMAGe Syndrome; BECKWITH-WIEDEMANN SYNDROME
Fetal anomalies v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2
Fetal anomalies v0.0 CDK13 Zornitza Stark gene: CDK13 was added
gene: CDK13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Fetal anomalies v0.0 CDH3 Zornitza Stark gene: CDH3 was added
gene: CDH3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to EEM SYNDROME; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Fetal anomalies v0.0 CDH1 Zornitza Stark gene: CDH1 was added
gene: CDH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome
Fetal anomalies v0.0 CDC6 Zornitza Stark gene: CDC6 was added
gene: CDC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC6 were set to MEIER-GORLIN SYNDROME 5
Fetal anomalies v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC45 were set to Meier-Gorlin Syndrome and Craniosynostosis
Fetal anomalies v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085
Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135; Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
Fetal anomalies v0.0 CCND2 Zornitza Stark gene: CCND2 was added
gene: CCND2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCND2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
Fetal anomalies v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15
Fetal anomalies v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to CILIARY DYSKINESIA, PRIMARY, 14
Fetal anomalies v0.0 CCDC114 Zornitza Stark gene: CCDC114 was added
gene: CCDC114 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC114 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.0 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.0 CCBE1 Zornitza Stark gene: CCBE1 was added
gene: CCBE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
Fetal anomalies v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to MECKEL SYNDROME, TYPE 6; JOUBERT SYNDROME 9; COACH SYNDROME
Fetal anomalies v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Fetal anomalies v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED; MRX WITH/WITHOUT NYSTAGMUS; FG SYNDROME TYPE 4
Fetal anomalies v0.0 CACNA1E Zornitza Stark gene: CACNA1E was added
gene: CACNA1E was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 30849329
Phenotypes for gene: CACNA1E were set to Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias
Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments
Fetal anomalies v0.0 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME
Fetal anomalies v0.0 CA8 Zornitza Stark gene: CA8 was added
gene: CA8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3
Fetal anomalies v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3
Fetal anomalies v0.0 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8orf37 were set to CONE-ROD DYSTROPHY 16
Fetal anomalies v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to JOUBERT SYNDROME
Fetal anomalies v0.0 C21orf2 Zornitza Stark gene: C21orf2 was added
gene: C21orf2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia
Fetal anomalies v0.0 C12orf65 Zornitza Stark gene: C12orf65 was added
gene: C12orf65 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
Fetal anomalies v0.0 C11orf70 Zornitza Stark gene: C11orf70 was added
gene: C11orf70 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C11orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C11orf70 were set to 29727692; 29727693
Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.0 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Fetal anomalies v0.0 BTD Zornitza Stark gene: BTD was added
gene: BTD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BTD were set to BIOTINIDASE DEFICIENCY
Fetal anomalies v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A
Fetal anomalies v0.0 BRPF1 Zornitza Stark gene: BRPF1 was added
gene: BRPF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BRPF1 were set to BRPF1 associated syndromic intellectual disability with ptosis
Fetal anomalies v0.0 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRIP1 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP J
Fetal anomalies v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1
Fetal anomalies v0.0 BRAT1 Zornitza Stark gene: BRAT1 was added
gene: BRAT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRAT1 were set to 23035047
Phenotypes for gene: BRAT1 were set to LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME
Fetal anomalies v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7; CARDIOFACIOCUTANEOUS SYNDROME; LEOPARD SYNDROME TYPE 3
Fetal anomalies v0.0 BMPR1B Zornitza Stark gene: BMPR1B was added
gene: BMPR1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type, OMIM:609441
Fetal anomalies v0.0 BMPER Zornitza Stark gene: BMPER was added
gene: BMPER was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPER were set to DIAPHANOSPONDYLODYSOSTOSIS
Fetal anomalies v0.0 BMP4 Zornitza Stark gene: BMP4 was added
gene: BMP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP4 were set to OROFACIAL CLEFT 11; MICROPHTHALMIA, SYNDROMIC 6
Fetal anomalies v0.0 BMP2 Zornitza Stark gene: BMP2 was added
gene: BMP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Brachydactyly, type A2 112600
Fetal anomalies v0.0 BMP1 Zornitza Stark gene: BMP1 was added
gene: BMP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP1 were set to 28513615
Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta type XIII 614856
Fetal anomalies v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to BLOOM SYNDROME
Fetal anomalies v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2
Fetal anomalies v0.0 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICD2 were set to 27751653; 30054298; 29274205; 28635954
Phenotypes for gene: BICD2 were set to reduced fetal movements; PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); hydrops fetalis; Pterygium
Mode of pathogenicity for gene: BICD2 was set to Other
Fetal anomalies v0.0 BHLHA9 Zornitza Stark gene: BHLHA9 was added
gene: BHLHA9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BHLHA9 were set to ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432; SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE
Fetal anomalies v0.0 BGN Zornitza Stark gene: BGN was added
gene: BGN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BGN were set to 27236923; 27632686
Phenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989; X-Linked Spondyloepimetaphyseal Dysplasia; Severe syndromic form of thoracic aortic aneurysm & dissection; Spondyloepimetaphyseal dysplasia, X-linked, 300106
Fetal anomalies v0.0 BFSP2 Zornitza Stark gene: BFSP2 was added
gene: BFSP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED
Fetal anomalies v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 30712880
Phenotypes for gene: BCS1L were set to GRACILE syndrome, 603358; GRACILE SYNDROME
Fetal anomalies v0.0 BCOR Zornitza Stark gene: BCOR was added
gene: BCOR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2
Fetal anomalies v0.0 BCL11A Zornitza Stark gene: BCL11A was added
gene: BCL11A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BCL11A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 BCAP31 Zornitza Stark gene: BCAP31 was added
gene: BCAP31 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Fetal anomalies v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to BARDET-BIEDL SYNDROME TYPE 9
Fetal anomalies v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to BARDET-BIEDL SYNDROME TYPE 7
Fetal anomalies v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to BARDET-BIEDL SYNDROME TYPE 5
Fetal anomalies v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS4 were set to 28425981
Phenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4
Fetal anomalies v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to BARDET-BIEDL SYNDROME TYPE 2
Fetal anomalies v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12
Fetal anomalies v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10
Fetal anomalies v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 MONDO:0008854; Bardet-Biedl syndrome 1 OMIM:209900
Fetal anomalies v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE
Fetal anomalies v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 29096039
Phenotypes for gene: B3GLCT were set to PETERS-PLUS SYNDROME 261540
Fetal anomalies v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
Fetal anomalies v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1; EHLERS-DANLOS SYNDROME
Fetal anomalies v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE; MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1
Fetal anomalies v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 23035047
Phenotypes for gene: ATP7A were set to SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; MENKES DISEASE; OCCIPITAL HORN SYNDROME
Fetal anomalies v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome 219200
Fetal anomalies v0.0 ATIC Zornitza Stark gene: ATIC was added
gene: ATIC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATIC were set to AICA-RIBOSURIA
Fetal anomalies v0.0 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATAD3A were set to 33845882; 28549128; 28158749; 29053797; 32607449; 32004445; 33575671; 31727539; 28327206; 27640307
Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Harel-Yoon syndrome, OMIM:617183
Mode of pathogenicity for gene: ATAD3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.0 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ASXL1 were set to BOHRING-OPITZ SYNDROME
Fetal anomalies v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I
Fetal anomalies v0.0 ASPM Zornitza Stark gene: ASPM was added
gene: ASPM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Fetal anomalies v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to CANAVAN DISEASE
Fetal anomalies v0.0 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency 615574
Fetal anomalies v0.0 ASCC1 Zornitza Stark gene: ASCC1 was added
gene: ASCC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to 28749478; 26924529; 30327447
Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; hypotonia; contractures; fetal akinesia; arthrogryposis
Fetal anomalies v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY; FARBER LIPOGRANULOMATOSIS
Fetal anomalies v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1; PARTINGTON SYNDROME; MENTAL RETARDATION X-LINKED ARX-RELATED; LISSENCEPHALY X-LINKED TYPE 2
Fetal anomalies v0.0 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Fetal anomalies v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6
Fetal anomalies v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY
Fetal anomalies v0.0 ARMC9 Zornitza Stark gene: ARMC9 was added
gene: ARMC9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30
Fetal anomalies v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23
Fetal anomalies v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to RETINITIS PIGMENTOSA TYPE 55; BARDET-BIEDL SYNDROME TYPE 3
Fetal anomalies v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL13B were set to 25138100; 18674751; 29255182
Phenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291
Fetal anomalies v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
Fetal anomalies v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME
Fetal anomalies v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1
Fetal anomalies v0.0 ARCN1 Zornitza Stark gene: ARCN1 was added
gene: ARCN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARCN1 were set to 27476655
Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164; Microcephalic dwarfism
Fetal anomalies v0.0 AR Zornitza Stark gene: AR was added
gene: AR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME
Fetal anomalies v0.0 AP4E1 Zornitza Stark gene: AP4E1 was added
gene: AP4E1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4E1 were set to Hereditary spastic paraplegia 51, MONDO:0013401; Spastic paraplegia 51, autosomal recessive, OMIM:613744
Fetal anomalies v0.0 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Pettigrew syndrome, OMIM:304340
Fetal anomalies v0.0 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR1 were set to GAPO SYNDROME
Fetal anomalies v0.0 ANOS1 Zornitza Stark gene: ANOS1 was added
gene: ANOS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
Fetal anomalies v0.0 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANKRD11 were set to KBG SYNDROME
Fetal anomalies v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE; CHONDROCALCINOSIS 2
Fetal anomalies v0.0 ANAPC1 Zornitza Stark gene: ANAPC1 was added
gene: ANAPC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1
Fetal anomalies v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY
Fetal anomalies v0.0 AMPD2 Zornitza Stark gene: AMPD2 was added
gene: AMPD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA
Fetal anomalies v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: AMER1 were set to 28425981
Phenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
Fetal anomalies v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2; PARIETAL FORAMINA 2
Fetal anomalies v0.0 ALX3 Zornitza Stark gene: ALX3 was added
gene: ALX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX3 were set to FRONTONASAL DYSPLASIA TYPE 1
Fetal anomalies v0.0 ALX1 Zornitza Stark gene: ALX1 was added
gene: ALX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX1 were set to FRONTONASAL DYSPLASIA TYPE 3
Fetal anomalies v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA
Fetal anomalies v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to ALSTROM SYNDROME
Fetal anomalies v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to ALG8-CDG
Fetal anomalies v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to ALG6-CDG
Fetal anomalies v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG3 were set to 16006436
Phenotypes for gene: ALG3 were set to ALG3-CDG
Fetal anomalies v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G
Fetal anomalies v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to ALG1-CDG
Fetal anomalies v0.0 ALDOA Zornitza Stark gene: ALDOA was added
gene: ALDOA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII
Fetal anomalies v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to PYRIDOXINE-DEPENDENT EPILEPSY
Fetal anomalies v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME
Fetal anomalies v0.0 ALDH1A3 Zornitza Stark gene: ALDH1A3 was added
gene: ALDH1A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH1A3 were set to ANOPHTHALMIA/MICROPHTHALMIA
Fetal anomalies v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; CUTIS LAXA, AUTOSOMAL DOMINANT 3
Fetal anomalies v0.0 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3
Mode of pathogenicity for gene: AKT3 was set to Other
Fetal anomalies v0.0 AKT1 Zornitza Stark gene: AKT1 was added
gene: AKT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT1 were set to 33030203
Phenotypes for gene: AKT1 were set to PROTEUS SYNDROME
Fetal anomalies v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to JOUBERT SYNDROME
Fetal anomalies v0.0 AHDC1 Zornitza Stark gene: AHDC1 was added
gene: AHDC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AHDC1 were set to XIA-GIBBS SYNDROME
Fetal anomalies v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3
Fetal anomalies v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to GLYCOGEN STORAGE DISEASE TYPE III
Fetal anomalies v0.0 AGK Zornitza Stark gene: AGK was added
gene: AGK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to SENGERS SYNDROME
Fetal anomalies v0.0 AFF4 Zornitza Stark gene: AFF4 was added
gene: AFF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME
Fetal anomalies v0.0 ADSL Zornitza Stark gene: ADSL was added
gene: ADSL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY
Fetal anomalies v0.0 ADNP Zornitza Stark gene: ADNP was added
gene: ADNP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28
Fetal anomalies v0.0 ADGRG6 Zornitza Stark gene: ADGRG6 was added
gene: ADGRG6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9
Fetal anomalies v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to POLYMICROGYRIA
Fetal anomalies v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
Fetal anomalies v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050
Fetal anomalies v0.0 ADAMTS17 Zornitza Stark gene: ADAMTS17 was added
gene: ADAMTS17 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS17 were set to 19836009; 22486325; 30712880; 24940034
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, 613195
Fetal anomalies v0.0 ADAMTS10 Zornitza Stark gene: ADAMTS10 was added
gene: ADAMTS10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive 277600
Fetal anomalies v0.0 ACY1 Zornitza Stark gene: ACY1 was added
gene: ACY1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACY1 were set to AMINOACYLASE-1 DEFICIENCY
Fetal anomalies v0.0 ACVR2B Zornitza Stark gene: ACVR2B was added
gene: ACVR2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489
Phenotypes for gene: ACVR2B were set to Heterotaxy; Dextrocardia; polysplenia; Gut malrotation; Double outlet right ventricle; Transposition of the great arteries; asplenia; right-sided spleen
Fetal anomalies v0.0 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTG2 were set to 31070878; 25998219; 30712878
Phenotypes for gene: ACTG2 were set to Fetal Megacystis; Visceral myopathy 155310
Mode of pathogenicity for gene: ACTG2 was set to Other
Fetal anomalies v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME
Fetal anomalies v0.0 ACTC1 Zornitza Stark gene: ACTC1 was added
gene: ACTC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTC1 were set to 24461919
Phenotypes for gene: ACTC1 were set to Atrial septal defect 5 612794
Fetal anomalies v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTB were set to ACTB Haploinsufficiency syndtome; BARAITSER-WINTER SYNDROME
Fetal anomalies v0.0 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to AORTIC ANEURYSM, FAMILIAL THORACIC 6; MOYAMOYA DISEASE 5
Fetal anomalies v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACTA1 were set to 30266093
Phenotypes for gene: ACTA1 were set to Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Fetal anomalies v0.0 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACP5 were set to SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
Fetal anomalies v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470; ADRENOLEUKODYSTROPHY PSEUDONEONATAL
Fetal anomalies v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACE were set to 30058238
Phenotypes for gene: ACE were set to Renal tubular dysgenesis 267430
Fetal anomalies v0.0 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY
Fetal anomalies v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD9 were set to 26475292
Phenotypes for gene: ACAD9 were set to ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Fetal anomalies v0.0 ABHD5 Zornitza Stark gene: ABHD5 was added
gene: ABHD5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME
Fetal anomalies v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Fetal anomalies v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
Fetal anomalies v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 242500
Fetal anomalies v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Triple-A syndrome, MONDO:0009279; Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
Fetal anomalies v0.0 Zornitza Stark Added panel Fetal anomalies
Congenital nystagmus v0.23 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
Congenital nystagmus v0.23 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.23 CNGB3 Zornitza Stark changed review comment from: Well established gene-disease association. The c.1148delC is a common founder variant in the Pingelapese.; to: Well established gene-disease association. The c.1148delC is a common founder variant in the Pingelapese. Nystagmus is a feature.
Congenital nystagmus v0.23 CNGA3 Zornitza Stark Marked gene: CNGA3 as ready
Congenital nystagmus v0.23 CNGA3 Zornitza Stark Gene: cnga3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.23 CNGA3 Zornitza Stark changed review comment from: Well established gene-disease association, over 100 families reported.; to: Well established gene-disease association, over 100 families reported. Characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colours. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent.
Congenital nystagmus v0.23 Zornitza Stark removed gene:CHM from the panel
Congenital nystagmus v0.22 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Congenital nystagmus v0.22 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Congenital nystagmus v0.22 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Leber congenital amaurosis 10, MIM# 611755
Congenital nystagmus v0.21 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Congenital nystagmus v0.20 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.19 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909394, 17554762, 33957996, 31734136; Phenotypes: Leber congenital amaurosis 10, MIM# 611755; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.19 CASK Zornitza Stark Marked gene: CASK as ready
Congenital nystagmus v0.19 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Congenital nystagmus v0.19 CASK Zornitza Stark Phenotypes for gene: CASK were changed from Mental retardation, with or without nystagmus 300422; FG syndrome 4 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD to Mental retardation, with or without nystagmus, MIM# 300422
Congenital nystagmus v0.18 CASK Zornitza Stark Publications for gene: CASK were set to
Congenital nystagmus v0.17 CASK Zornitza Stark reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19377476; Phenotypes: Mental retardation, with or without nystagmus, MIM# 300422; Mode of inheritance: None
Congenital nystagmus v0.17 Zornitza Stark removed gene:CACNA2D4 from the panel
Congenital nystagmus v0.16 CACNA1F Zornitza Stark Marked gene: CACNA1F as ready
Congenital nystagmus v0.16 CACNA1F Zornitza Stark Gene: cacna1f has been classified as Green List (High Evidence).
Congenital nystagmus v0.16 CACNA1F Zornitza Stark Phenotypes for gene: CACNA1F were changed from Aland Island eye disease 300600 XL; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071; Cone-rod dystropy, X-linked, 3, 300476; Cone-rod dystrophy, X-linked, 3 300476 XLR; Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL to Aland Island eye disease, MIM# 300600; Cone-rod dystrophy, X-linked, 3, MIM# 300476
Congenital nystagmus v0.15 CACNA1F Zornitza Stark Publications for gene: CACNA1F were set to
Congenital nystagmus v0.14 CACNA1F Zornitza Stark reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: None; Publications: 17525176, 16505158, 23776498, 24124559; Phenotypes: Aland Island eye disease, MIM# 300600, Cone-rod dystrophy, X-linked, 3, MIM# 300476; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital nystagmus v0.14 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Congenital nystagmus v0.14 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Congenital nystagmus v0.14 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated to Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086
Congenital nystagmus v0.13 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developemental and epileptic encephalopathy 42, MIM# 617106, Episodic ataxia, type 2, MIM# 108500, Migraine, familial hemiplegic, 1, MIM# 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500, Spinocerebellar ataxia 6, MIM# 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9452 CABP4 Zornitza Stark Marked gene: CABP4 as ready
Mendeliome v0.9452 CABP4 Zornitza Stark Gene: cabp4 has been classified as Green List (High Evidence).
Mendeliome v0.9452 CABP4 Zornitza Stark Phenotypes for gene: CABP4 were changed from to Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427
Mendeliome v0.9451 CABP4 Zornitza Stark Publications for gene: CABP4 were set to
Mendeliome v0.9450 CABP4 Zornitza Stark Mode of inheritance for gene: CABP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9449 CABP4 Zornitza Stark reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.13 CABP4 Zornitza Stark Marked gene: CABP4 as ready
Congenital nystagmus v0.13 CABP4 Zornitza Stark Gene: cabp4 has been classified as Green List (High Evidence).
Congenital nystagmus v0.13 CABP4 Zornitza Stark Phenotypes for gene: CABP4 were changed from Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 to Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427
Congenital nystagmus v0.12 CABP4 Zornitza Stark Publications for gene: CABP4 were set to
Congenital nystagmus v0.11 CABP4 Zornitza Stark reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: None
Mendeliome v0.9449 ATF6 Zornitza Stark Marked gene: ATF6 as ready
Mendeliome v0.9449 ATF6 Zornitza Stark Gene: atf6 has been classified as Green List (High Evidence).
Mendeliome v0.9449 ATF6 Zornitza Stark Phenotypes for gene: ATF6 were changed from to Achromatopsia 7, MIM#616517
Mendeliome v0.9448 ATF6 Zornitza Stark Publications for gene: ATF6 were set to
Mendeliome v0.9447 ATF6 Zornitza Stark Mode of inheritance for gene: ATF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9446 ATF6 Zornitza Stark reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26063662, 26029869; Phenotypes: Achromatopsia 7, MIM#616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.11 ATF6 Zornitza Stark Marked gene: ATF6 as ready
Congenital nystagmus v0.11 ATF6 Zornitza Stark Gene: atf6 has been classified as Green List (High Evidence).
Congenital nystagmus v0.11 ATF6 Zornitza Stark reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achromatopsia 7, MIM#616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.11 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Congenital nystagmus v0.11 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.11 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from Hermansky-Pudlak syndrome 2 608233 AR to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Congenital nystagmus v0.10 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Congenital nystagmus v0.9 AP3B1 Zornitza Stark changed review comment from: Well established gene-disease association, oculo-cutaneous albinism and platelet defects.; to: Well established gene-disease association, oculo-cutaneous albinism and platelet defects. Nystagmus is a feature.
Skeletal dysplasia v0.126 Zornitza Stark removed gene:AIPL1 from the panel
Mendeliome v0.9446 AIPL1 Zornitza Stark Marked gene: AIPL1 as ready
Mendeliome v0.9446 AIPL1 Zornitza Stark Gene: aipl1 has been classified as Green List (High Evidence).
Mendeliome v0.9446 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from to Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393
Mendeliome v0.9445 AIPL1 Zornitza Stark Publications for gene: AIPL1 were set to
Mendeliome v0.9444 AIPL1 Zornitza Stark Mode of inheritance for gene: AIPL1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9443 AIPL1 Zornitza Stark reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615133; Phenotypes: Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital nystagmus v0.9 AIPL1 Zornitza Stark Marked gene: AIPL1 as ready
Congenital nystagmus v0.9 AIPL1 Zornitza Stark Gene: aipl1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.9 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from to Leber congenital amaurosis 4, MIM# 604393
Congenital nystagmus v0.8 AIPL1 Zornitza Stark Publications for gene: AIPL1 were set to
Congenital nystagmus v0.7 AIPL1 Zornitza Stark Mode of inheritance for gene: AIPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.6 AIPL1 Zornitza Stark reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615133; Phenotypes: Leber congenital amaurosis 4, MIM# 604393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.11 GNAS-AS1 Zornitza Stark Tag SV/CNV tag was added to gene: GNAS-AS1.
Mendeliome v0.9443 GNAS-AS1 Zornitza Stark Tag SV/CNV tag was added to gene: GNAS-AS1.
Mendeliome v0.9443 GNAS-AS1 Zornitza Stark Marked gene: GNAS-AS1 as ready
Mendeliome v0.9443 GNAS-AS1 Zornitza Stark Gene: gnas-as1 has been classified as Red List (Low Evidence).
Mendeliome v0.9443 GNAS-AS1 Zornitza Stark Phenotypes for gene: GNAS-AS1 were changed from to Pseudohypoparathyroidism type 1b MIM no: 603233
Mendeliome v0.9442 GNAS-AS1 Zornitza Stark Publications for gene: GNAS-AS1 were set to
Mendeliome v0.9441 GNAS-AS1 Zornitza Stark Mode of inheritance for gene: GNAS-AS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.9440 GNAS-AS1 Zornitza Stark Classified gene: GNAS-AS1 as Red List (low evidence)
Mendeliome v0.9440 GNAS-AS1 Zornitza Stark Gene: gnas-as1 has been classified as Red List (Low Evidence).
Mendeliome v0.9439 GNAS-AS1 Zornitza Stark reviewed gene: GNAS-AS1: Rating: RED; Mode of pathogenicity: None; Publications: 22378814, 15592469, 29959430, 25005734; Phenotypes: Pseudohypoparathyroidism type 1b MIM no: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.11 GNAS-AS1 Zornitza Stark Marked gene: GNAS-AS1 as ready
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.11 GNAS-AS1 Zornitza Stark Gene: gnas-as1 has been classified as Red List (Low Evidence).
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.11 GNAS-AS1 Zornitza Stark Phenotypes for gene: GNAS-AS1 were changed from to Pseudohypoparathyroidism type 1b MIM no: 603233
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.10 GNAS-AS1 Zornitza Stark Publications for gene: GNAS-AS1 were set to
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.9 GNAS-AS1 Zornitza Stark Mode of inheritance for gene: GNAS-AS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.8 GNAS-AS1 Zornitza Stark Classified gene: GNAS-AS1 as Red List (low evidence)
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.8 GNAS-AS1 Zornitza Stark Gene: gnas-as1 has been classified as Red List (Low Evidence).
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.7 GNAS-AS1 Zornitza Stark reviewed gene: GNAS-AS1: Rating: RED; Mode of pathogenicity: None; Publications: 22378814, 15592469, 29959430, 25005734; Phenotypes: Pseudohypoparathyroidism type 1b MIM no: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Imprinting disorders v1.3 GNAS-AS1 Zornitza Stark Marked gene: GNAS-AS1 as ready
Imprinting disorders v1.3 GNAS-AS1 Zornitza Stark Gene: gnas-as1 has been classified as Red List (Low Evidence).
Imprinting disorders v1.3 GNAS-AS1 Zornitza Stark Tag SV/CNV tag was added to gene: GNAS-AS1.
Imprinting disorders v1.3 GNAS-AS1 Zornitza Stark Classified gene: GNAS-AS1 as Red List (low evidence)
Imprinting disorders v1.3 GNAS-AS1 Zornitza Stark Gene: gnas-as1 has been classified as Red List (Low Evidence).
Mendeliome v0.9439 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome; Spermatogenic failure 58, MIM# 619585
Mendeliome v0.9438 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776; 32144365; 33531668
Mendeliome v0.9437 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Limited evidence for association with spermatogenic failure: two unrelated individuals with same homozygous missense variant.; Changed publications: 27486776, 32144365, 33531668, 33689014; Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome, Spermatogenic failure 58, MIM# 619585
Interstitial Lung Disease v0.78 RSPH9 Zornitza Stark Marked gene: RSPH9 as ready
Interstitial Lung Disease v0.78 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.78 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from to Ciliary dyskinesia, primary, 12 (MIM#612650)
Interstitial Lung Disease v0.77 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to
Interstitial Lung Disease v0.76 RSPH9 Zornitza Stark Mode of inheritance for gene: RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.75 RTEL1 Zornitza Stark Marked gene: RTEL1 as ready
Interstitial Lung Disease v0.75 RTEL1 Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.75 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
Interstitial Lung Disease v0.74 RTEL1 Zornitza Stark Publications for gene: RTEL1 were set to
Interstitial Lung Disease v0.73 RTEL1 Zornitza Stark Mode of inheritance for gene: RTEL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.72 RTEL1 Zornitza Stark edited their review of gene: RTEL1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.72 RTEL1 Zornitza Stark changed review comment from: Well established gene-disease associations, multiple families for each MOI, mouse model.; to: Well established gene-disease association.
Interstitial Lung Disease v0.72 RTEL1 Zornitza Stark edited their review of gene: RTEL1: Changed publications: 25848748, 25607374, 23959892; Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
Interstitial Lung Disease v0.72 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Interstitial Lung Disease v0.72 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.72 SERPINA1 Zornitza Stark Phenotypes for gene: SERPINA1 were changed from to Emphysema due to AAT deficiency, MIM# 613490
Interstitial Lung Disease v0.71 SERPINA1 Zornitza Stark Mode of inheritance for gene: SERPINA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.70 SERPINA1 Zornitza Stark reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Imprinting disorders v1.2 GNAS-AS1 Anna Le Fevre changed review comment from: Single report of a AD-PHP-Ib kindred with a maternally inherited deletion limited to GNAS-AS1 (Chillambhi et al 2010). Further reports of maternally inherited deletions including regions of both GNAS-AS1 and exon NESP55.

Note, this non-coding RNA is paternally expressed, but causative deletions have been maternally inherited.

Reports of two AD-PHP-Ib kindreds with 4-kb microdeletions comprising the entire NESP55 DMR. These include exon NESP55 (GNAS encoded) and exons 3 and 4 of the GNAS antisense transcript. It remains unknown whether the observed imprinting changes and PTH resistance in these patients result from the loss of NESP55 expression or the loss of the deleted genomic region.

Chillambhi et al reported a AD-PHP-Ib kindred and identified a novel deletion that exclusively affects exons encoding the GNAS-AS. Overlapping with the previously identified deletions by approximately 1.5 kb. Unlike the previously identified deletions associated with AD-PHP-Ib, the novel deletion not only disrupts methylation of three GNAS DMRs (A/B, AS, and XL) after maternal transmission but also appears to partially alter methylation of the NESP55 and the A/B DMRs after paternal transmission, revealing a novel cis-acting mechanism that governs imprinting on both parental alleles.

Rezwan et al reported two further families with 33bp and 40bp deletions intronic to both NESP55 and NESP-AS. These were not definitively causative of the phenotype in the family.
Sources: Literature; to: Single report of a AD-PHP-Ib kindred with a maternally inherited deletion limited to GNAS-AS1 (Chillambhi et al 2010). Further reports of maternally inherited deletions including regions of both GNAS-AS1 and exon NESP55. Although deletions in this region appear to be causative of AD-PHP-Ib, evidence for deletions limited to only GNAS-AS1 is limited to date.

Note, this non-coding RNA is paternally expressed, but causative deletions have been maternally inherited.

Reports of two AD-PHP-Ib kindreds with 4-kb microdeletions comprising the entire NESP55 DMR. These include exon NESP55 (GNAS encoded) and exons 3 and 4 of the GNAS antisense transcript. It remains unknown whether the observed imprinting changes and PTH resistance in these patients result from the loss of NESP55 expression or the loss of the deleted genomic region.

Chillambhi et al reported a AD-PHP-Ib kindred and identified a novel deletion that exclusively affects exons encoding the GNAS-AS. Overlapping with the previously identified deletions by approximately 1.5 kb. Unlike the previously identified deletions associated with AD-PHP-Ib, the novel deletion not only disrupts methylation of three GNAS DMRs (A/B, AS, and XL) after maternal transmission but also appears to partially alter methylation of the NESP55 and the A/B DMRs after paternal transmission, revealing a novel cis-acting mechanism that governs imprinting on both parental alleles.

Rezwan et al reported two further families with 33bp and 40bp deletions intronic to both NESP55 and NESP-AS. These were not definitively causative of the phenotype in the family.
Sources: Literature
Imprinting disorders v1.2 GNAS-AS1 Anna Le Fevre gene: GNAS-AS1 was added
gene: GNAS-AS1 was added to Imprinting disorders. Sources: Literature
Mode of inheritance for gene: GNAS-AS1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: GNAS-AS1 were set to PMID: 22378814; 15592469; 29959430; 25005734
Phenotypes for gene: GNAS-AS1 were set to Pseudohypoparathyroidism type 1b MIM no: 603233
Review for gene: GNAS-AS1 was set to RED
Added comment: Single report of a AD-PHP-Ib kindred with a maternally inherited deletion limited to GNAS-AS1 (Chillambhi et al 2010). Further reports of maternally inherited deletions including regions of both GNAS-AS1 and exon NESP55.

Note, this non-coding RNA is paternally expressed, but causative deletions have been maternally inherited.

Reports of two AD-PHP-Ib kindreds with 4-kb microdeletions comprising the entire NESP55 DMR. These include exon NESP55 (GNAS encoded) and exons 3 and 4 of the GNAS antisense transcript. It remains unknown whether the observed imprinting changes and PTH resistance in these patients result from the loss of NESP55 expression or the loss of the deleted genomic region.

Chillambhi et al reported a AD-PHP-Ib kindred and identified a novel deletion that exclusively affects exons encoding the GNAS-AS. Overlapping with the previously identified deletions by approximately 1.5 kb. Unlike the previously identified deletions associated with AD-PHP-Ib, the novel deletion not only disrupts methylation of three GNAS DMRs (A/B, AS, and XL) after maternal transmission but also appears to partially alter methylation of the NESP55 and the A/B DMRs after paternal transmission, revealing a novel cis-acting mechanism that governs imprinting on both parental alleles.

Rezwan et al reported two further families with 33bp and 40bp deletions intronic to both NESP55 and NESP-AS. These were not definitively causative of the phenotype in the family.
Sources: Literature
Mendeliome v0.9437 SFTPC Zornitza Stark Marked gene: SFTPC as ready
Mendeliome v0.9437 SFTPC Zornitza Stark Gene: sftpc has been classified as Green List (High Evidence).
Mendeliome v0.9437 SFTPC Zornitza Stark Phenotypes for gene: SFTPC were changed from to Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Mendeliome v0.9436 SFTPC Zornitza Stark Publications for gene: SFTPC were set to
Mendeliome v0.9435 SFTPC Zornitza Stark Mode of inheritance for gene: SFTPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9434 SFTPC Zornitza Stark reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11207353, 11991887, 11893657, 15557112, 19443464; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.70 SFTPC Zornitza Stark Marked gene: SFTPC as ready
Interstitial Lung Disease v0.70 SFTPC Zornitza Stark Gene: sftpc has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.70 SFTPC Zornitza Stark Phenotypes for gene: SFTPC were changed from to Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Interstitial Lung Disease v0.69 SFTPC Zornitza Stark Publications for gene: SFTPC were set to
Interstitial Lung Disease v0.68 SFTPC Zornitza Stark Mode of inheritance for gene: SFTPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.67 SFTPC Zornitza Stark reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11207353, 11991887, 11893657, 15557112, 19443464; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9434 SFTPB Zornitza Stark Marked gene: SFTPB as ready
Mendeliome v0.9434 SFTPB Zornitza Stark Gene: sftpb has been classified as Green List (High Evidence).
Mendeliome v0.9434 SFTPB Zornitza Stark Phenotypes for gene: SFTPB were changed from to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Mendeliome v0.9433 SFTPB Zornitza Stark Publications for gene: SFTPB were set to
Mendeliome v0.9432 SFTPB Zornitza Stark Mode of inheritance for gene: SFTPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9431 SFTPB Zornitza Stark reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 8021783, 10378403, 10571948; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.67 SFTPB Zornitza Stark Marked gene: SFTPB as ready
Interstitial Lung Disease v0.67 SFTPB Zornitza Stark Gene: sftpb has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.67 SFTPB Zornitza Stark Phenotypes for gene: SFTPB were changed from to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Interstitial Lung Disease v0.66 SFTPB Zornitza Stark Publications for gene: SFTPB were set to
Interstitial Lung Disease v0.65 SFTPB Zornitza Stark Mode of inheritance for gene: SFTPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.64 SFTPB Zornitza Stark reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 8021783, 10378403, 10571948; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9431 SFTPA2 Zornitza Stark Marked gene: SFTPA2 as ready
Mendeliome v0.9431 SFTPA2 Zornitza Stark Gene: sftpa2 has been classified as Green List (High Evidence).
Mendeliome v0.9431 SFTPA2 Zornitza Stark Phenotypes for gene: SFTPA2 were changed from to Pulmonary fibrosis, idiopathic, MIM# 178500
Mendeliome v0.9430 SFTPA2 Zornitza Stark Publications for gene: SFTPA2 were set to
Mendeliome v0.9429 SFTPA2 Zornitza Stark Mode of inheritance for gene: SFTPA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9428 SFTPA2 Zornitza Stark reviewed gene: SFTPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19100526, 32602668; Phenotypes: Pulmonary fibrosis, idiopathic, MIM# 178500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.64 SFTPA2 Zornitza Stark Marked gene: SFTPA2 as ready
Interstitial Lung Disease v0.64 SFTPA2 Zornitza Stark Gene: sftpa2 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.64 SFTPA2 Zornitza Stark Phenotypes for gene: SFTPA2 were changed from to Pulmonary fibrosis, idiopathic, MIM# 178500
Interstitial Lung Disease v0.63 SFTPA2 Zornitza Stark Publications for gene: SFTPA2 were set to
Interstitial Lung Disease v0.62 SFTPA2 Zornitza Stark Mode of inheritance for gene: SFTPA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.61 SFTPA2 Zornitza Stark reviewed gene: SFTPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19100526, 32602668; Phenotypes: Pulmonary fibrosis, idiopathic, MIM# 178500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.61 SFTPA1 Zornitza Stark Marked gene: SFTPA1 as ready
Interstitial Lung Disease v0.61 SFTPA1 Zornitza Stark Gene: sftpa1 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.61 SFTPA1 Zornitza Stark Phenotypes for gene: SFTPA1 were changed from to Idiopathic pulmonary fibrosis
Interstitial Lung Disease v0.60 SFTPA1 Zornitza Stark Publications for gene: SFTPA1 were set to
Interstitial Lung Disease v0.59 SFTPA1 Zornitza Stark Mode of inheritance for gene: SFTPA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Interstitial Lung Disease v0.58 SFTPA1 Zornitza Stark Classified gene: SFTPA1 as Amber List (moderate evidence)
Interstitial Lung Disease v0.58 SFTPA1 Zornitza Stark Gene: sftpa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9428 SFTPD Zornitza Stark Marked gene: SFTPD as ready
Mendeliome v0.9428 SFTPD Zornitza Stark Gene: sftpd has been classified as Red List (Low Evidence).
Mendeliome v0.9428 SFTPD Zornitza Stark Phenotypes for gene: SFTPD were changed from to Interstitial lung disease
Mendeliome v0.9427 SFTPD Zornitza Stark Publications for gene: SFTPD were set to
Mendeliome v0.9426 SFTPD Zornitza Stark Classified gene: SFTPD as Red List (low evidence)
Mendeliome v0.9426 SFTPD Zornitza Stark Gene: sftpd has been classified as Red List (Low Evidence).
Mendeliome v0.9425 SFTPD Zornitza Stark reviewed gene: SFTPD: Rating: RED; Mode of pathogenicity: None; Publications: 9751757; Phenotypes: Interstitial lung disease; Mode of inheritance: None
Interstitial Lung Disease v0.57 SFTPD Zornitza Stark Marked gene: SFTPD as ready
Interstitial Lung Disease v0.57 SFTPD Zornitza Stark Gene: sftpd has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.57 SFTPD Zornitza Stark Phenotypes for gene: SFTPD were changed from to Interstitial lung disease
Interstitial Lung Disease v0.56 SFTPD Zornitza Stark Publications for gene: SFTPD were set to
Interstitial Lung Disease v0.55 SFTPD Zornitza Stark Classified gene: SFTPD as Red List (low evidence)
Interstitial Lung Disease v0.55 SFTPD Zornitza Stark Gene: sftpd has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.54 SFTPD Zornitza Stark reviewed gene: SFTPD: Rating: RED; Mode of pathogenicity: None; Publications: 9751757; Phenotypes: Interstitial lung disease; Mode of inheritance: None
Hyperammonaemia v0.2 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Hyperammonaemia v0.2 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Hyperammonaemia v0.2 SLC7A7 Zornitza Stark Publications for gene: SLC7A7 were set to
Hyperammonaemia v0.1 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080182, 18716612; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.54 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Interstitial Lung Disease v0.54 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.54 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700
Interstitial Lung Disease v0.53 SLC7A7 Zornitza Stark Publications for gene: SLC7A7 were set to
Mendeliome v0.9425 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Mendeliome v0.9425 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Mendeliome v0.9425 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700
Mendeliome v0.9424 SLC7A7 Zornitza Stark Publications for gene: SLC7A7 were set to
Mendeliome v0.9423 SLC7A7 Zornitza Stark Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9422 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080182, 18716612; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.52 SLC7A7 Zornitza Stark Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.51 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080182, 18716612; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.51 NME8 Zornitza Stark Marked gene: NME8 as ready
Interstitial Lung Disease v0.51 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.51 NME8 Zornitza Stark Phenotypes for gene: NME8 were changed from to Ciliary dyskinesia, primary, 6 MIM#610852
Interstitial Lung Disease v0.50 NME8 Zornitza Stark Publications for gene: NME8 were set to
Interstitial Lung Disease v0.49 NME8 Zornitza Stark Mode of inheritance for gene: NME8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.48 NME8 Zornitza Stark Classified gene: NME8 as Red List (low evidence)
Interstitial Lung Disease v0.48 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.47 SMAD9 Zornitza Stark Marked gene: SMAD9 as ready
Interstitial Lung Disease v0.47 SMAD9 Zornitza Stark Gene: smad9 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.47 SMAD9 Zornitza Stark Phenotypes for gene: SMAD9 were changed from to Pulmonary hypertension, primary, 2 MIM#615342
Interstitial Lung Disease v0.46 SMAD9 Zornitza Stark Publications for gene: SMAD9 were set to
Interstitial Lung Disease v0.45 SMAD9 Zornitza Stark Mode of inheritance for gene: SMAD9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Muscular dystrophy and myopathy_Paediatric v0.94 JAG2 Zornitza Stark Phenotypes for gene: JAG2 were changed from muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566; muscular dystrophy
Muscular dystrophy and myopathy_Paediatric v0.93 JAG2 Zornitza Stark edited their review of gene: JAG2: Changed phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566, muscular dystrophy
Mendeliome v0.9422 JAG2 Zornitza Stark Phenotypes for gene: JAG2 were changed from muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566; muscular dystrophy
Mendeliome v0.9421 JAG2 Zornitza Stark reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9421 STX16 Zornitza Stark Marked gene: STX16 as ready
Mendeliome v0.9421 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Mendeliome v0.9421 STX16 Zornitza Stark Phenotypes for gene: STX16 were changed from to Pseudohypoparathyroidism type 1b MIM#: 603233
Mendeliome v0.9420 STX16 Zornitza Stark Publications for gene: STX16 were set to
Mendeliome v0.9419 STX16 Zornitza Stark Mode of inheritance for gene: STX16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.9418 STX16 Zornitza Stark reviewed gene: STX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 1456170, 15579741, 15800843, 33320452, 32337648, 33247854, 29959430; Phenotypes: Pseudohypoparathyroidism type 1b MIM no: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.7 STX16 Zornitza Stark Marked gene: STX16 as ready
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.7 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.7 STX16 Zornitza Stark Phenotypes for gene: STX16 were changed from to Pseudohypoparathyroidism type 1b MIM#: 603233
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.6 STX16 Zornitza Stark Publications for gene: STX16 were set to
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.5 STX16 Zornitza Stark Mode of inheritance for gene: STX16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 STX16 Zornitza Stark Tag SV/CNV tag was added to gene: STX16.
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 STX16 Zornitza Stark commented on gene: STX16: Multiple reports of a PHP-Ib phenotype.

Caused in most cases by a maternally inherited 3-kb, 4.4-kb or larger deletion involving STX16, which is associated with loss of methylation (LOM) at GNAS exon A/B DMR (also referred to as exon 1A or GNAS A/B:TSS-DMR).

Of PHP1B cases, 15–20% are familial, with an autosomal dominant mode of inheritance (AD-PHP1B) through the maternal lineage. In this familial form, the methylation defect is usually limited to loss of methylation at GNAS A/B:TSS-DMR, secondary to a 3 kb microdeletion on the maternal allele of cis-acting control elements within STX16. Other maternally inherited deletions and duplications have also been identified in some rare familial cases affecting either an isolated GNAS A/B:TSS-DMR or all four DMRs (Nature review, PMID 29959430)

STX16 is not clearly an imprinted gene, but only maternally inherited deletions are associated with this phenotype. Deletions in this gene are thought to disrupt cis-acting regulation of GNAS expression.
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 STX16 Zornitza Stark reviewed gene: STX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 1456170, 15579741, 15800843, 33320452, 32337648, 33247854, 29959430; Phenotypes: Pseudohypoparathyroidism type 1b MIM#: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Calcium and Phosphate disorders v0.35 STX16 Zornitza Stark Mode of inheritance for gene: STX16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Calcium and Phosphate disorders v0.34 STX16 Zornitza Stark edited their review of gene: STX16: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Imprinting disorders v1.1 STX16 Zornitza Stark Marked gene: STX16 as ready
Imprinting disorders v1.1 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Imprinting disorders v1.1 STX16 Zornitza Stark Classified gene: STX16 as Green List (high evidence)
Imprinting disorders v1.1 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Imprinting disorders v1.0 STX16 Zornitza Stark Tag SV/CNV tag was added to gene: STX16.
Imprinting disorders v1.0 STX16 Anna Le Fevre gene: STX16 was added
gene: STX16 was added to Imprinting disorders. Sources: Literature
Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: STX16 were set to PMID: 1456170; 15579741; 15800843; 33320452; 32337648; 33247854; 29959430
Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism type 1b MIM no: 603233
Review for gene: STX16 was set to GREEN
Added comment: Multiple reports of a PHP-Ib phenotype.

Caused in most cases by a maternally inherited 3-kb, 4.4-kb or larger deletion involving STX16, which is associated with loss of methylation (LOM) at GNAS exon A/B DMR (also referred to as exon 1A or GNAS A/B:TSS-DMR).

Of PHP1B cases, 15–20% are familial, with an autosomal dominant mode of inheritance (AD-PHP1B) through the maternal lineage. In this familial form, the methylation defect is usually limited to loss of methylation at GNAS A/B:TSS-DMR, secondary to a 3 kb microdeletion on the maternal allele of cis-acting control elements within STX16. Other maternally inherited deletions and duplications have also been identified in some rare familial cases affecting either an isolated GNAS A/B:TSS-DMR or all four DMRs (Nature review, PMID 29959430)

STX16 is not clearly an imprinted gene, but only maternally inherited deletions are associated with this phenotype. Deletions in this gene are thought to disrupt cis-acting regulation of GNAS expression.
Sources: Literature
Interstitial Lung Disease v0.44 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Interstitial Lung Disease v0.44 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.44 STAT3 Zornitza Stark Phenotypes for gene: STAT3 were changed from to Hyper-IgE recurrent infection syndrome MIM# 147060; Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
Interstitial Lung Disease v0.43 STAT3 Zornitza Stark Publications for gene: STAT3 were set to
Interstitial Lung Disease v0.42 STAT3 Zornitza Stark Mode of inheritance for gene: STAT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.41 STAT3 Zornitza Stark reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17881745, 14566054, 25349174, 25038750, 25359994; Phenotypes: Hyper-IgE recurrent infection syndrome MIM# 147060, Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.41 STRA6 Zornitza Stark Marked gene: STRA6 as ready
Interstitial Lung Disease v0.41 STRA6 Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.41 STRA6 Zornitza Stark Phenotypes for gene: STRA6 were changed from to Microphthalmia, syndromic 9, MIM# 601186
Interstitial Lung Disease v0.40 STRA6 Zornitza Stark Publications for gene: STRA6 were set to
Interstitial Lung Disease v0.39 STRA6 Zornitza Stark Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.38 STRA6 Zornitza Stark reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4218 TAOK1 Zornitza Stark Phenotypes for gene: TAOK1 were changed from Intellectual disability; hypotonia; macrocephaly to Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; Intellectual disability; hypotonia; macrocephaly
Intellectual disability syndromic and non-syndromic v0.4217 TAOK1 Zornitza Stark reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9418 TAOK1 Zornitza Stark Phenotypes for gene: TAOK1 were changed from TAOK1-related neurodevelopmental disorder to Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; TAOK1-related neurodevelopmental disorder
Mendeliome v0.9417 TAOK1 Zornitza Stark edited their review of gene: TAOK1: Changed phenotypes: Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575, TAOK1-related neurodevelopmental disorder
Macrocephaly_Megalencephaly v0.89 TAOK1 Zornitza Stark Phenotypes for gene: TAOK1 were changed from Intellectual disability; macrocephaly to Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; Intellectual disability; macrocephaly
Macrocephaly_Megalencephaly v0.88 TAOK1 Zornitza Stark reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9417 STOX1 Zornitza Stark Marked gene: STOX1 as ready
Mendeliome v0.9417 STOX1 Zornitza Stark Gene: stox1 has been classified as Red List (Low Evidence).
Mendeliome v0.9417 STOX1 Zornitza Stark Phenotypes for gene: STOX1 were changed from to Preeclampsia/eclampsia 4 (MIM#609404)
Mendeliome v0.9416 STOX1 Zornitza Stark Publications for gene: STOX1 were set to
Mendeliome v0.9415 STOX1 Zornitza Stark Classified gene: STOX1 as Red List (low evidence)
Mendeliome v0.9415 STOX1 Zornitza Stark Gene: stox1 has been classified as Red List (Low Evidence).
Mendeliome v0.9414 CHRNA5 Zornitza Stark Marked gene: CHRNA5 as ready
Mendeliome v0.9414 CHRNA5 Zornitza Stark Gene: chrna5 has been classified as Red List (Low Evidence).
Mendeliome v0.9414 CHRNA5 Zornitza Stark Phenotypes for gene: CHRNA5 were changed from to Lung cancer susceptibility 2 (MIM#612052); Nicotine dependence, susceptibility to (MIM#612052)
Mendeliome v0.9413 CHRNA5 Zornitza Stark Classified gene: CHRNA5 as Red List (low evidence)
Mendeliome v0.9413 CHRNA5 Zornitza Stark Gene: chrna5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4217 KIAA0556 Zornitza Stark Marked gene: KIAA0556 as ready
Intellectual disability syndromic and non-syndromic v0.4217 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4217 KIAA0556 Zornitza Stark Classified gene: KIAA0556 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4217 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Mendeliome v0.9412 TBX4 Zornitza Stark edited their review of gene: TBX4: Changed publications: 31761294, 31965066; Changed phenotypes: Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891, Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360
Interstitial Lung Disease v0.38 TBX4 Zornitza Stark Marked gene: TBX4 as ready
Interstitial Lung Disease v0.38 TBX4 Zornitza Stark Gene: tbx4 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.38 TBX4 Zornitza Stark Phenotypes for gene: TBX4 were changed from to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360
Interstitial Lung Disease v0.37 TBX4 Zornitza Stark Publications for gene: TBX4 were set to
Interstitial Lung Disease v0.36 TBX4 Zornitza Stark Mode of inheritance for gene: TBX4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Interstitial Lung Disease v0.35 TBX4 Zornitza Stark reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31761294, 31965066; Phenotypes: Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Interstitial Lung Disease v0.34 TCF21 Zornitza Stark Marked gene: TCF21 as ready
Interstitial Lung Disease v0.34 TCF21 Zornitza Stark Gene: tcf21 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.34 TCF21 Zornitza Stark Phenotypes for gene: TCF21 were changed from to Interstitial lung disease
Interstitial Lung Disease v0.33 TCF21 Zornitza Stark Classified gene: TCF21 as Red List (low evidence)
Interstitial Lung Disease v0.33 TCF21 Zornitza Stark Gene: tcf21 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.32 TERC Zornitza Stark Marked gene: TERC as ready
Interstitial Lung Disease v0.32 TERC Zornitza Stark Gene: terc has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.32 TERC Zornitza Stark Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Interstitial Lung Disease v0.31 TERC Zornitza Stark Publications for gene: TERC were set to
Interstitial Lung Disease v0.30 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.29 TERC Zornitza Stark edited their review of gene: TERC: Changed publications: 34479523
Interstitial Lung Disease v0.29 TERC Zornitza Stark commented on gene: TERC: Interstitial lung disease is a feature.
Interstitial Lung Disease v0.29 TERT Zornitza Stark Marked gene: TERT as ready
Interstitial Lung Disease v0.29 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.29 TERT Zornitza Stark Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
Interstitial Lung Disease v0.28 TERT Zornitza Stark Publications for gene: TERT were set to
Interstitial Lung Disease v0.27 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Interstitial Lung Disease v0.26 TERT Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, interstitial lung disease is a feature.
Interstitial Lung Disease v0.26 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Interstitial Lung Disease v0.26 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.26 TINF2 Zornitza Stark Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
Interstitial Lung Disease v0.25 TINF2 Zornitza Stark Publications for gene: TINF2 were set to
Interstitial Lung Disease v0.24 TINF2 Zornitza Stark Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.23 TINF2 Zornitza Stark edited their review of gene: TINF2: Changed phenotypes: Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
Interstitial Lung Disease v0.23 TINF2 Zornitza Stark changed review comment from: RS is a severe variant of DKC with early bone marrow failure and retinopathy.

Well established gene-disease associations.; to: Well established gene-disease association, interstitial lung disease is a feature.
Interstitial Lung Disease v0.22 ABCA3 Zornitza Stark Marked gene: ABCA3 as ready
Interstitial Lung Disease v0.22 ABCA3 Zornitza Stark Gene: abca3 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.22 ABCA3 Zornitza Stark Phenotypes for gene: ABCA3 were changed from to Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921
Interstitial Lung Disease v0.21 ABCA3 Zornitza Stark Publications for gene: ABCA3 were set to
Interstitial Lung Disease v0.20 ABCA3 Zornitza Stark Mode of inheritance for gene: ABCA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.19 TMEM173 Zornitza Stark Marked gene: TMEM173 as ready
Interstitial Lung Disease v0.19 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.19 TMEM173 Zornitza Stark Phenotypes for gene: TMEM173 were changed from to STING-associated vasculopathy, infantile-onset, MIM# 615934
Interstitial Lung Disease v0.18 TMEM173 Zornitza Stark Publications for gene: TMEM173 were set to
Interstitial Lung Disease v0.17 TMEM173 Zornitza Stark Mode of inheritance for gene: TMEM173 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.16 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Interstitial Lung Disease v0.16 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.16 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, MIM# 191100
Interstitial Lung Disease v0.15 TSC1 Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.14 TSC1 Zornitza Stark reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.14 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Interstitial Lung Disease v0.14 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.14 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254
Interstitial Lung Disease v0.13 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.12 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.12 TTF1 Zornitza Stark Marked gene: TTF1 as ready
Interstitial Lung Disease v0.12 TTF1 Zornitza Stark Gene: ttf1 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.12 TTF1 Zornitza Stark Phenotypes for gene: TTF1 were changed from to Interstitial lung disease
Interstitial Lung Disease v0.11 TTF1 Zornitza Stark Publications for gene: TTF1 were set to
Interstitial Lung Disease v0.10 TTF1 Zornitza Stark Mode of inheritance for gene: TTF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.9 TTF1 Zornitza Stark Classified gene: TTF1 as Red List (low evidence)
Interstitial Lung Disease v0.9 TTF1 Zornitza Stark Gene: ttf1 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.8 TTF1 Zornitza Stark reviewed gene: TTF1: Rating: RED; Mode of pathogenicity: None; Publications: 20203240; Phenotypes: Interstitial lung disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1365 ZNHIT3 Zornitza Stark Marked gene: ZNHIT3 as ready
Genetic Epilepsy v0.1365 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1365 ZNHIT3 Zornitza Stark Classified gene: ZNHIT3 as Green List (high evidence)
Genetic Epilepsy v0.1365 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Optic Atrophy v1.3 ZNHIT3 Zornitza Stark Marked gene: ZNHIT3 as ready
Optic Atrophy v1.3 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1364 ZNHIT3 Zornitza Stark gene: ZNHIT3 was added
gene: ZNHIT3 was added to Genetic Epilepsy. Sources: Expert Review
founder tags were added to gene: ZNHIT3.
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020; 28335020; 31048081
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565
Review for gene: ZNHIT3 was set to GREEN
Added comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model.
Sources: Expert Review
Optic Atrophy v1.3 ZNHIT3 Zornitza Stark Classified gene: ZNHIT3 as Green List (high evidence)
Optic Atrophy v1.3 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Optic Atrophy v1.2 ZNHIT3 Zornitza Stark gene: ZNHIT3 was added
gene: ZNHIT3 was added to Optic Atrophy. Sources: Literature
founder tags were added to gene: ZNHIT3.
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020; 28335020; 31048081
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565
Review for gene: ZNHIT3 was set to GREEN
Added comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model.
Sources: Literature
Microcephaly v1.64 ZNHIT3 Zornitza Stark Marked gene: ZNHIT3 as ready
Microcephaly v1.64 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Microcephaly v1.64 ZNHIT3 Zornitza Stark Classified gene: ZNHIT3 as Green List (high evidence)
Microcephaly v1.64 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Microcephaly v1.63 ZNHIT3 Zornitza Stark gene: ZNHIT3 was added
gene: ZNHIT3 was added to Microcephaly. Sources: Expert Review
founder tags were added to gene: ZNHIT3.
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020; 28335020; 31048081
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565
Review for gene: ZNHIT3 was set to GREEN
Added comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4216 ZNHIT3 Zornitza Stark Tag founder tag was added to gene: ZNHIT3.
Intellectual disability syndromic and non-syndromic v0.4216 ZNHIT3 Zornitza Stark Classified gene: ZNHIT3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4216 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4215 ZNHIT3 Zornitza Stark Classified gene: ZNHIT3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4215 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4214 ZNHIT3 Zornitza Stark Marked gene: ZNHIT3 as ready
Intellectual disability syndromic and non-syndromic v0.4214 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4214 ZNHIT3 Zornitza Stark gene: ZNHIT3 was added
gene: ZNHIT3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020; 28335020; 31048081
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565
Review for gene: ZNHIT3 was set to GREEN
Added comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model.
Sources: Literature
Mendeliome v0.9412 ZNHIT3 Zornitza Stark Marked gene: ZNHIT3 as ready
Mendeliome v0.9412 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Mendeliome v0.9412 ZNHIT3 Zornitza Stark Phenotypes for gene: ZNHIT3 were changed from to PEHO syndrome, MIM# 260565
Mendeliome v0.9411 ZNHIT3 Zornitza Stark Publications for gene: ZNHIT3 were set to
Mendeliome v0.9410 ZNHIT3 Zornitza Stark Mode of inheritance for gene: ZNHIT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9409 ZNHIT3 Zornitza Stark Tag founder tag was added to gene: ZNHIT3.
Mendeliome v0.9409 ZNHIT3 Zornitza Stark reviewed gene: ZNHIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28335020, 28335020, 31048081; Phenotypes: PEHO syndrome, MIM# 260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.8 ZNHIT3 Zornitza Stark Marked gene: ZNHIT3 as ready
Interstitial Lung Disease v0.8 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.8 ZNHIT3 Zornitza Stark Phenotypes for gene: ZNHIT3 were changed from to PEHO syndrome, MIM# 260565
Interstitial Lung Disease v0.7 ZNHIT3 Zornitza Stark Mode of inheritance for gene: ZNHIT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.6 ZNHIT3 Zornitza Stark Classified gene: ZNHIT3 as Red List (low evidence)
Interstitial Lung Disease v0.6 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.5 ZNHIT3 Zornitza Stark reviewed gene: ZNHIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: PEHO syndrome, MIM# 260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.328 HCFC1 Zornitza Stark Mode of inheritance for gene: HCFC1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.327 HCFC1 Zornitza Stark edited their review of gene: HCFC1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9409 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Mendeliome v0.9409 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.164 ADGRG1 Zornitza Stark Tag 5'UTR tag was added to gene: ADGRG1.
Polymicrogyria and Schizencephaly v0.164 ADGRG1 Zornitza Stark changed review comment from: 12 families reported in the original paper.; to: 12 families reported in the original paper.

Note promoter deletion is common.
Mendeliome v0.9409 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from to Polymicrogyria, bilateral frontoparietal, MIM#606854
Mendeliome v0.9408 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to
Genetic Epilepsy v0.1363 ADGRG1 Zornitza Stark changed review comment from: 12 families reported in the original paper. ID and seizures are common features.; to: 12 families reported in the original paper. ID and seizures are common features.

Note promoter deletion is common.
Genetic Epilepsy v0.1363 ADGRG1 Zornitza Stark Tag 5'UTR tag was added to gene: ADGRG1.
Mendeliome v0.9407 ADGRG1 Zornitza Stark Mode of inheritance for gene: ADGRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9406 ADGRG1 Zornitza Stark Tag 5'UTR tag was added to gene: ADGRG1.
Mendeliome v0.9406 ADGRG1 Zornitza Stark reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336, 33299078; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1363 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Genetic Epilepsy v0.1363 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1363 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from to Polymicrogyria, bilateral frontoparietal, MIM#606854
Genetic Epilepsy v0.1362 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to
Genetic Epilepsy v0.1361 ADGRG1 Zornitza Stark Mode of inheritance for gene: ADGRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1360 ADGRG1 Zornitza Stark reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336, 33299078; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.4213 KIAA0556 Paul De Fazio gene: KIAA0556 was added
gene: KIAA0556 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to 26714646; 27245168
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, MIM# 616784
Review for gene: KIAA0556 was set to GREEN
gene: KIAA0556 was marked as current diagnostic
Added comment: 5 individuals from two families reported, supportive mouse model. Individuals were reported to have (global) developmental delay.

New HGNC approved name is KATNIP.
Sources: Literature
Mendeliome v0.9406 CHRNA5 Paul De Fazio reviewed gene: CHRNA5: Rating: RED; Mode of pathogenicity: None; Publications: 20643934, 18385676; Phenotypes: Lung cancer susceptibility 2 (MIM#612052), Nicotine dependence, susceptibility to (MIM#612052); Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9406 STOX1 Paul De Fazio reviewed gene: STOX1: Rating: RED; Mode of pathogenicity: None; Publications: 15806103, 17290274, 30548667, 33301424; Phenotypes: Preeclampsia/eclampsia 4 (MIM#609404); Mode of inheritance: Unknown; Current diagnostic: yes
Genetic Epilepsy v0.1360 GATAD2B Zornitza Stark Marked gene: GATAD2B as ready
Genetic Epilepsy v0.1360 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1360 GATAD2B Zornitza Stark Classified gene: GATAD2B as Amber List (moderate evidence)
Genetic Epilepsy v0.1360 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1359 GATAD2B Zornitza Stark gene: GATAD2B was added
gene: GATAD2B was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATAD2B were set to 32688057
Phenotypes for gene: GATAD2B were set to Mental retardation, autosomal dominant 18, OMIM # 615074
Review for gene: GATAD2B was set to AMBER
Added comment: More than 70 patients reported: - loss-of-function and missense variants - clinical features of hypotonia, intellectual disability, strabismus, cardiac defects, characteristic facies, childhood apraxia of speech, and macrocephaly.

Seizures are a rare feature.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4213 FGF12 Zornitza Stark Marked gene: FGF12 as ready
Intellectual disability syndromic and non-syndromic v0.4213 FGF12 Zornitza Stark Gene: fgf12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4213 FGF12 Zornitza Stark Phenotypes for gene: FGF12 were changed from to Developmental and epileptic encephalopathy 47, MIM# 617166
Intellectual disability syndromic and non-syndromic v0.4212 FGF12 Zornitza Stark Publications for gene: FGF12 were set to
Intellectual disability syndromic and non-syndromic v0.4211 FGF12 Zornitza Stark Mode of inheritance for gene: FGF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4210 FGF12 Zornitza Stark reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32645220, 27164707, 27830185, 27872899; Phenotypes: Developmental and epileptic encephalopathy 47, MIM# 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9406 FGF12 Zornitza Stark Marked gene: FGF12 as ready
Mendeliome v0.9406 FGF12 Zornitza Stark Gene: fgf12 has been classified as Green List (High Evidence).
Mendeliome v0.9406 FGF12 Zornitza Stark Phenotypes for gene: FGF12 were changed from to Developmental and epileptic encephalopathy 47, MIM# 617166
Mendeliome v0.9405 FGF12 Zornitza Stark Publications for gene: FGF12 were set to
Mendeliome v0.9404 FGF12 Zornitza Stark Mode of inheritance for gene: FGF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9403 FGF12 Zornitza Stark reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32645220, 27164707, 27830185, 27872899; Phenotypes: Developmental and epileptic encephalopathy 47, MIM# 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1358 FGF12 Zornitza Stark Marked gene: FGF12 as ready
Genetic Epilepsy v0.1358 FGF12 Zornitza Stark Gene: fgf12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1358 FGF12 Zornitza Stark Phenotypes for gene: FGF12 were changed from to Developmental and epileptic encephalopathy 47, MIM# 617166
Genetic Epilepsy v0.1357 FGF12 Zornitza Stark Publications for gene: FGF12 were set to
Genetic Epilepsy v0.1356 FGF12 Zornitza Stark Mode of inheritance for gene: FGF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1355 FGF12 Zornitza Stark reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32645220, 27164707, 27830185, 27872899; Phenotypes: Developmental and epileptic encephalopathy 47, MIM# 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1355 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Genetic Epilepsy v0.1355 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1355 KIF5A Zornitza Stark Classified gene: KIF5A as Green List (high evidence)
Genetic Epilepsy v0.1355 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Mendeliome v0.9403 KCNAB3 Zornitza Stark Marked gene: KCNAB3 as ready
Mendeliome v0.9403 KCNAB3 Zornitza Stark Gene: kcnab3 has been classified as Red List (Low Evidence).
Mendeliome v0.9403 KCNAB3 Zornitza Stark Classified gene: KCNAB3 as Red List (low evidence)
Mendeliome v0.9403 KCNAB3 Zornitza Stark Gene: kcnab3 has been classified as Red List (Low Evidence).
Mendeliome v0.9402 TBK1 Zornitza Stark Marked gene: TBK1 as ready
Mendeliome v0.9402 TBK1 Zornitza Stark Gene: tbk1 has been classified as Green List (High Evidence).
Mendeliome v0.9402 TBK1 Zornitza Stark Phenotypes for gene: TBK1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, MIM# 616439
Mendeliome v0.9401 TBK1 Zornitza Stark Publications for gene: TBK1 were set to
Mendeliome v0.9400 TBK1 Zornitza Stark Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4210 KCTD13 Zornitza Stark Mode of inheritance for gene: KCTD13 was changed from Unknown to Unknown
Congenital Disorders of Glycosylation v1.20 OSTC Zornitza Stark Marked gene: OSTC as ready
Congenital Disorders of Glycosylation v1.20 OSTC Zornitza Stark Gene: ostc has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.20 OSTC Zornitza Stark Classified gene: OSTC as Red List (low evidence)
Congenital Disorders of Glycosylation v1.20 OSTC Zornitza Stark Gene: ostc has been classified as Red List (Low Evidence).
Mendeliome v0.9399 OSTC Zornitza Stark Marked gene: OSTC as ready
Mendeliome v0.9399 OSTC Zornitza Stark Gene: ostc has been classified as Red List (Low Evidence).
Mendeliome v0.9399 OSTC Zornitza Stark Classified gene: OSTC as Red List (low evidence)
Mendeliome v0.9399 OSTC Zornitza Stark Gene: ostc has been classified as Red List (Low Evidence).
Mendeliome v0.9398 KCNC2 Zornitza Stark Marked gene: KCNC2 as ready
Mendeliome v0.9398 KCNC2 Zornitza Stark Gene: kcnc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9398 KCNC2 Zornitza Stark Publications for gene: KCNC2 were set to PMID:32392612; 31972370
Mendeliome v0.9397 KCNC2 Zornitza Stark Classified gene: KCNC2 as Amber List (moderate evidence)
Mendeliome v0.9397 KCNC2 Zornitza Stark Gene: kcnc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9396 KCTD13 Zornitza Stark Marked gene: KCTD13 as ready
Mendeliome v0.9396 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Mendeliome v0.9396 KCTD13 Zornitza Stark Phenotypes for gene: KCTD13 were changed from to Intellectual disability; seizures
Intellectual disability syndromic and non-syndromic v0.4209 KCTD13 Zornitza Stark Mode of inheritance for gene: KCTD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
Mendeliome v0.9395 KCTD13 Zornitza Stark Publications for gene: KCTD13 were set to PMID: 33409479
Intellectual disability syndromic and non-syndromic v0.4208 KCTD13 Zornitza Stark edited their review of gene: KCTD13: Changed mode of inheritance: Unknown
Mendeliome v0.9394 KCTD13 Zornitza Stark Mode of inheritance for gene: KCTD13 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Mendeliome v0.9393 KCTD13 Zornitza Stark Classified gene: KCTD13 as Red List (low evidence)
Mendeliome v0.9393 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Mendeliome v0.9392 KCTD13 Zornitza Stark reviewed gene: KCTD13: Rating: RED; Mode of pathogenicity: None; Publications: 22596160, 29088697; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1354 MED27 Zornitza Stark Marked gene: MED27 as ready
Genetic Epilepsy v0.1354 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1354 KPNA7 Zornitza Stark Marked gene: KPNA7 as ready
Genetic Epilepsy v0.1354 KPNA7 Zornitza Stark Gene: kpna7 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1354 KPNA7 Zornitza Stark Classified gene: KPNA7 as Red List (low evidence)
Genetic Epilepsy v0.1354 KPNA7 Zornitza Stark Gene: kpna7 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1353 KPNA7 Ain Roesley gene: KPNA7 was added
gene: KPNA7 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KPNA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KPNA7 were set to 24045845; 32179771
Phenotypes for gene: KPNA7 were set to severe neurodevelopmental defects; epilepsy
Penetrance for gene: KPNA7 were set to unknown
Review for gene: KPNA7 was set to RED
gene: KPNA7 was marked as current diagnostic
Added comment: 1 fam with 2 siblings. Functional showed disruptions to CTCF binding
Sources: Literature
Genetic Epilepsy v0.1353 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Genetic Epilepsy v0.1353 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1353 KMT2D Zornitza Stark Publications for gene: KMT2D were set to 33552639; 28404210; 27922244
Genetic Epilepsy v0.1352 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Genetic Epilepsy v0.1352 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1351 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 21882399; Phenotypes: Kabuki syndrome 1 MIM#147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1351 MED27 Zornitza Stark Classified gene: MED27 as Green List (high evidence)
Genetic Epilepsy v0.1351 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1350 MED13L Zornitza Stark Marked gene: MED13L as ready
Genetic Epilepsy v0.1350 MED13L Zornitza Stark Gene: med13l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1350 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Genetic Epilepsy v0.1350 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1350 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from febrile, fever-triggered and afebrile seizures to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918
Genetic Epilepsy v0.1350 MED13L Zornitza Stark Classified gene: MED13L as Green List (high evidence)
Genetic Epilepsy v0.1350 MED13L Zornitza Stark Gene: med13l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1349 MAP1B Zornitza Stark Classified gene: MAP1B as Green List (high evidence)
Genetic Epilepsy v0.1349 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1348 LIG3 Zornitza Stark Marked gene: LIG3 as ready
Genetic Epilepsy v0.1348 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1348 MAP1B Zornitza Stark reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31317654, 30150678, 30214071, 33772511; Phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9392 KCTD13 Daniel Flanagan gene: KCTD13 was added
gene: KCTD13 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KCTD13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCTD13 were set to PMID: 33409479
Review for gene: KCTD13 was set to RED
Added comment: Mouse model and in vitro evidence suggesting the deletion of KCTD13 has a similar metabolic affect as adenylosuccinate lyase deficiency, which has seizures and autistic features.
Sources: Expert list
Genetic Epilepsy v0.1348 LIG3 Zornitza Stark Classified gene: LIG3 as Green List (high evidence)
Genetic Epilepsy v0.1348 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1347 ODC1 Zornitza Stark Marked gene: ODC1 as ready
Genetic Epilepsy v0.1347 ODC1 Zornitza Stark Gene: odc1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1347 ODC1 Zornitza Stark Classified gene: ODC1 as Red List (low evidence)
Genetic Epilepsy v0.1347 ODC1 Zornitza Stark Gene: odc1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1346 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1, MIM# 309800 to Microphthalmia, syndromic 1, MIM# 309800; NAA10-related syndrome; Seizures
Genetic Epilepsy v0.1345 KCTD13 Zornitza Stark Marked gene: KCTD13 as ready
Genetic Epilepsy v0.1345 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1345 NAA10 Zornitza Stark Classified gene: NAA10 as Amber List (moderate evidence)
Genetic Epilepsy v0.1345 NAA10 Zornitza Stark Gene: naa10 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1344 KCTD13 Zornitza Stark Classified gene: KCTD13 as Red List (low evidence)
Genetic Epilepsy v0.1344 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1343 OGT Zornitza Stark Marked gene: OGT as ready
Genetic Epilepsy v0.1343 OGT Zornitza Stark Gene: ogt has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1343 OGT Zornitza Stark Classified gene: OGT as Red List (low evidence)
Genetic Epilepsy v0.1343 OGT Zornitza Stark Gene: ogt has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1342 KCNH1 Zornitza Stark Marked gene: KCNH1 as ready
Genetic Epilepsy v0.1342 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Green List (High Evidence).
Mendeliome v0.9392 KCNC2 Daniel Flanagan gene: KCNC2 was added
gene: KCNC2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KCNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNC2 were set to PMID:32392612; 31972370
Phenotypes for gene: KCNC2 were set to epileptic encephalopathy; spastic tetraplegia; opisthotonos attacks; intellectual disability; West syndrome
Review for gene: KCNC2 was set to AMBER
Added comment: PMID: 31972370. De novo missense variant (p.Val471Leu) identified in a child with early severe developmental and epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks.

PMID: 32392612. De novo missense variant (p.Asp167Tyr) identified in a neurofibromatosis type 1 related West syndrome patient. Functional analysis showed a significant reduction of the mean potassium current and a shift in the voltage dependence of steady-state activation. Maternally inherited NF1 variant (p.T1951Nfs*5) also identified, the mother was "clinically unremarkable".
Sources: Expert list
Genetic Epilepsy v0.1342 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9392 OSTC Belinda Chong gene: OSTC was added
gene: OSTC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSTC were set to PMID: 32267060
Phenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation
Review for gene: OSTC was set to RED
Added comment: A patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.
Patient was homozygous for a canonical splice variant (c.431 + 1G > A), mRNA from patient's fibroblast showed mRNA transcript reduced 80-90%/aberrant splicing - predicting NMD.
GnomAD - 10 hets, 0 hom
Sources: Literature
Sources: Literature
Genetic Epilepsy v0.1342 KCNH1 Zornitza Stark Phenotypes for gene: KCNH1 were changed from seizures; epilepsy; intellectual disability; hypotonia; skeletal abnormalities; nail abnormalities to Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS
Genetic Epilepsy v0.1342 KCTD7 Ain Roesley reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 33767931, 33970744, 22693283, 22748208; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions MMI#611726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.1342 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Genetic Epilepsy v0.1342 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1342 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920; ?Charcot-Marie-Tooth disease, axonal, type 2V - 616491; Seizures to Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920; Seizures
Genetic Epilepsy v0.1341 KCNH1 Zornitza Stark Classified gene: KCNH1 as Green List (high evidence)
Genetic Epilepsy v0.1341 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1340 KCNH1 Zornitza Stark reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS; Mode of inheritance: None
Genetic Epilepsy v0.1340 ODC1 Belinda Chong changed review comment from: Epilepsy appears to be a rare feature of this syndrome.
Sources: Literature; to: Epilepsy not reported.
Sources: Literature
Genetic Epilepsy v0.1340 NAGLU Zornitza Stark Mode of inheritance for gene: NAGLU was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1339 OSGEP Zornitza Stark Marked gene: OSGEP as ready
Genetic Epilepsy v0.1339 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1339 NAGLU Zornitza Stark Classified gene: NAGLU as Green List (high evidence)
Genetic Epilepsy v0.1339 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.19 OSTC Belinda Chong gene: OSTC was added
gene: OSTC was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSTC were set to PMID: 32267060
Phenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation
Review for gene: OSTC was set to RED
Added comment: A patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.
Patient was homozygous for a canonical splice variant (c.431 + 1G > A), mRNA from patient's fibroblast showed mRNA transcript reduced 80-90%/aberrant splicing - predicting NMD.
GnomAD - 10 hets, 0 hom
Sources: Literature
Sources: Literature
Genetic Epilepsy v0.1338 OSGEP Zornitza Stark Classified gene: OSGEP as Green List (high evidence)
Genetic Epilepsy v0.1338 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1337 OGT Belinda Chong changed review comment from: Epilepsy appears to be a rare feature of this disorder.
Sources: Literature; to: Epilepsy not reported
Sources: Literature
Genetic Epilepsy v0.1337 KCNN3 Zornitza Stark Marked gene: KCNN3 as ready
Genetic Epilepsy v0.1337 KCNN3 Zornitza Stark Gene: kcnn3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1337 KCNN3 Zornitza Stark Classified gene: KCNN3 as Red List (low evidence)
Genetic Epilepsy v0.1337 KCNN3 Zornitza Stark Gene: kcnn3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4208 NDUFA8 Zornitza Stark Marked gene: NDUFA8 as ready
Intellectual disability syndromic and non-syndromic v0.4208 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4208 NDUFA8 Zornitza Stark Classified gene: NDUFA8 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4208 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1336 OSTC Zornitza Stark Marked gene: OSTC as ready
Genetic Epilepsy v0.1336 OSTC Zornitza Stark Gene: ostc has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1336 OGT Belinda Chong changed review comment from: Epilepsy appears to be a rare feature of this syndrome.
Sources: Literature; to: Epilepsy appears to be a rare feature of this disorder.
Sources: Literature
Mendeliome v0.9392 TBK1 Lucy Spencer reviewed gene: TBK1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 31000212, 25943890; Phenotypes: Frontotemporal dementia, amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9392 KCNAB3 Daniel Flanagan gene: KCNAB3 was added
gene: KCNAB3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KCNAB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNAB3 were set to PMID: 32990398
Phenotypes for gene: KCNAB3 were set to febrile seizures; afebrile seizure; genetic epilepsy with febrile seizures plus
Review for gene: KCNAB3 was set to RED
Added comment: Missense variant identified in a single Han Chinese family with febrile seizures plus. Three affected carriers and one unaffected carrier. Patch clamp functional studies indicates that the variant accelerates the inactivation of the potassium channels.
Sources: Expert list
Genetic Epilepsy v0.1336 OSTC Zornitza Stark Classified gene: OSTC as Red List (low evidence)
Genetic Epilepsy v0.1336 OSTC Zornitza Stark Gene: ostc has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1335 NDUFA8 Zornitza Stark Marked gene: NDUFA8 as ready
Genetic Epilepsy v0.1335 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1335 NDUFA8 Zornitza Stark Classified gene: NDUFA8 as Amber List (moderate evidence)
Genetic Epilepsy v0.1335 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1334 OTUD5 Zornitza Stark Marked gene: OTUD5 as ready
Genetic Epilepsy v0.1334 OTUD5 Zornitza Stark Gene: otud5 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1334 OTUD5 Zornitza Stark Phenotypes for gene: OTUD5 were changed from X-Linked Intellectual Disability and Congenital Malformation to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056
Genetic Epilepsy v0.1333 KCNC2 Zornitza Stark Marked gene: KCNC2 as ready
Genetic Epilepsy v0.1333 KCNC2 Zornitza Stark Gene: kcnc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1333 KCNC2 Zornitza Stark Classified gene: KCNC2 as Amber List (moderate evidence)
Genetic Epilepsy v0.1333 KCNC2 Zornitza Stark Gene: kcnc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1332 OTUD5 Zornitza Stark Classified gene: OTUD5 as Amber List (moderate evidence)
Genetic Epilepsy v0.1332 OTUD5 Zornitza Stark Gene: otud5 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1331 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
Genetic Epilepsy v0.1331 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1331 OTUD5 Zornitza Stark reviewed gene: OTUD5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056; Mode of inheritance: None
Genetic Epilepsy v0.1331 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from ?Myofibromatosis, infantile 2 - 615293; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310; Lateral meningocele syndrome - 130720 to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310
Genetic Epilepsy v0.1330 NOTCH3 Zornitza Stark Classified gene: NOTCH3 as Red List (low evidence)
Genetic Epilepsy v0.1330 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1329 KCNAB3 Zornitza Stark Marked gene: KCNAB3 as ready
Genetic Epilepsy v0.1329 KCNAB3 Zornitza Stark Gene: kcnab3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1329 KCNAB3 Zornitza Stark Classified gene: KCNAB3 as Red List (low evidence)
Genetic Epilepsy v0.1329 KCNAB3 Zornitza Stark Gene: kcnab3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1328 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Genetic Epilepsy v0.1328 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1328 KCNA1 Zornitza Stark Classified gene: KCNA1 as Green List (high evidence)
Genetic Epilepsy v0.1328 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1327 DAB1 Zornitza Stark Marked gene: DAB1 as ready
Genetic Epilepsy v0.1327 DAB1 Zornitza Stark Gene: dab1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1327 DAB1 Zornitza Stark Classified gene: DAB1 as Red List (low evidence)
Genetic Epilepsy v0.1327 DAB1 Zornitza Stark Gene: dab1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1326 KIF5A Ain Roesley gene: KIF5A was added
gene: KIF5A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 27414745; 33681666; 27463701
Phenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal MIM#617235
Penetrance for gene: KIF5A were set to Complete
Review for gene: KIF5A was set to GREEN
gene: KIF5A was marked as current diagnostic
Added comment: PMID: 27414745
1x de novo with myoclonic seizures

PMID: 33681666
1x de novo with epileptic spasm

PMID: 27463701
2 unrelated patients who presented shortly after birth with nearly continuous nonrhythmic large-amplitude myoclonic jerks associated with intermittent apnea
2x de novo fs
Sources: Literature
Genetic Epilepsy v0.1326 KMT2D Ain Roesley gene: KMT2D was added
gene: KMT2D was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 33552639; 28404210; 27922244
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 MIM#147920
Penetrance for gene: KMT2D were set to Complete
Review for gene: KMT2D was set to GREEN
Added comment: PMID:33552639
1x proband with focal epilepsy. Note: only KDM6A and KMT2D were analysed as Kabuki syndrome was suspected. Parental DNA unavailable for segregation

PMID:28404210
5 out of 14 reported to have epilepsy

PMID:27922244
1x individual
Sources: Literature
Genetic Epilepsy v0.1326 EXOSC8 Zornitza Stark Marked gene: EXOSC8 as ready
Genetic Epilepsy v0.1326 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1326 EXOSC8 Zornitza Stark gene: EXOSC8 was added
gene: EXOSC8 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC8 were set to 24989451; 29656927; 34210538
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, MIM#616081
Review for gene: EXOSC8 was set to RED
Added comment: Typical clinical presentation is with severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants show delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination.

Single family reported with seizures as part of the phenotype.
Sources: Literature
Genetic Epilepsy v0.1325 ELOVL4 Zornitza Stark changed review comment from: 5 unrelated families reported, seizures in at least 4 of the families.
Sources: Expert Review; to: 5 unrelated families reported, seizures in at least 4 of the families.

Note mono-allelic variants cause retinopathy/SCA.
Sources: Expert Review
Genetic Epilepsy v0.1325 ELOVL4 Zornitza Stark Marked gene: ELOVL4 as ready
Genetic Epilepsy v0.1325 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1325 ELOVL4 Zornitza Stark Classified gene: ELOVL4 as Green List (high evidence)
Genetic Epilepsy v0.1325 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1324 ELOVL4 Zornitza Stark gene: ELOVL4 was added
gene: ELOVL4 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELOVL4 were set to 22100072; 24571530; 33652762
Phenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)
Review for gene: ELOVL4 was set to GREEN
Added comment: 5 unrelated families reported, seizures in at least 4 of the families.
Sources: Expert Review
Additional findings_Paediatric v0.261 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Additional findings_Paediatric v0.261 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.261 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from Myoclonic epilepsy to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Additional findings_Paediatric v0.260 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to
Additional findings_Paediatric v0.259 EFHC1 Zornitza Stark Classified gene: EFHC1 as Red List (low evidence)
Additional findings_Paediatric v0.259 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.258 EFHC1 Zornitza Stark reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: 31056551, 28370826, 29750216, 33969125, 33181902; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 1}, 607631, {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1323 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to 31056551; 28370826; 29750216
Genetic Epilepsy v0.1322 EFHC1 Zornitza Stark edited their review of gene: EFHC1: Changed publications: 31056551, 28370826, 29750216, 33969125, 33181902
Genetic Epilepsy v0.1322 MED27 Ain Roesley gene: MED27 was added
gene: MED27 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia MIM#619286
Penetrance for gene: MED27 were set to unknown
Review for gene: MED27 was set to GREEN
Added comment: 9 out of 15 reported to have epilepsy
Sources: Literature
Genetic Epilepsy v0.1322 MED13L Ain Roesley gene: MED13L was added
gene: MED13L was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MED13L were set to 32646507; 29511999; 25712080
Phenotypes for gene: MED13L were set to Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789
Penetrance for gene: MED13L were set to unknown
Review for gene: MED13L was set to GREEN
gene: MED13L was marked as current diagnostic
Added comment: PMID:32646507;
8/18 individuals with missense variants reported to have epileptic seizures

PMID:29511999;
1x individual with fs variant

PMID: 25712080;
1x individual with nonsense variant
Sources: Literature
Genetic Epilepsy v0.1322 MAP1B Ain Roesley gene: MAP1B was added
gene: MAP1B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP1B were set to 33772511
Phenotypes for gene: MAP1B were set to febrile, fever-triggered and afebrile seizures
Penetrance for gene: MAP1B were set to unknown
Review for gene: MAP1B was set to RED
Added comment: 4 affected family members had various combinations of: febrile, fever-triggered and afebrile seizures; photo-sensitivity; comorbid mild developmental delays; obsessive-compulsive behaviors; and poor attention span.
childhood onset, heterozygous fs variant
Sources: Literature
Genetic Epilepsy v0.1322 DNAJC6 Zornitza Stark Publications for gene: DNAJC6 were set to
Genetic Epilepsy v0.1321 DNAJC6 Zornitza Stark edited their review of gene: DNAJC6: Changed publications: 23211418
Hydrocephalus_Ventriculomegaly v0.100 DENND5A Zornitza Stark Marked gene: DENND5A as ready
Hydrocephalus_Ventriculomegaly v0.100 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.100 DENND5A Zornitza Stark Phenotypes for gene: DENND5A were changed from to Epileptic encephalopathy, early infantile, 49, MIM# 617281
Hydrocephalus_Ventriculomegaly v0.99 DENND5A Zornitza Stark Publications for gene: DENND5A were set to
Hydrocephalus_Ventriculomegaly v0.98 DENND5A Zornitza Stark Mode of inheritance for gene: DENND5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.97 DENND5A Zornitza Stark reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Epileptic encephalopathy, early infantile, 49, MIM# 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9392 DENND5A Zornitza Stark Marked gene: DENND5A as ready
Mendeliome v0.9392 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Mendeliome v0.9392 DENND5A Zornitza Stark Phenotypes for gene: DENND5A were changed from to Epileptic encephalopathy, early infantile, 49, MIM# 617281
Mendeliome v0.9391 DENND5A Zornitza Stark Publications for gene: DENND5A were set to
Mendeliome v0.9390 DENND5A Zornitza Stark Mode of inheritance for gene: DENND5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9389 DENND5A Zornitza Stark reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Epileptic encephalopathy, early infantile, 49, MIM# 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1321 DENND5A Zornitza Stark Marked gene: DENND5A as ready
Genetic Epilepsy v0.1321 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1321 DENND5A Zornitza Stark Phenotypes for gene: DENND5A were changed from to Epileptic encephalopathy, early infantile, 49, MIM# 617281
Genetic Epilepsy v0.1320 DENND5A Zornitza Stark Publications for gene: DENND5A were set to
Genetic Epilepsy v0.1319 DENND5A Zornitza Stark Mode of inheritance for gene: DENND5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1318 DENND5A Zornitza Stark reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Epileptic encephalopathy, early infantile, 49, MIM# 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1318 DARS2 Zornitza Stark Marked gene: DARS2 as ready
Genetic Epilepsy v0.1318 DARS2 Zornitza Stark Gene: dars2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1318 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS2 were set to 17384640; 15002045; 16788019; 30352563
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105
Review for gene: DARS2 was set to RED
Added comment: Well established gene-disease association. Affected individuals typically present with slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. Single individual reported with seizures in PMID 30352563.
Sources: Literature
Genetic Epilepsy v0.1317 LIG3 Ain Roesley gene: LIG3 was added
gene: LIG3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG3 were set to 33855352
Phenotypes for gene: LIG3 were set to mitochondrial neurogastrointestinal encephalomyopathy
Penetrance for gene: LIG3 were set to Complete
Review for gene: LIG3 was set to GREEN
gene: LIG3 was marked as current diagnostic
Added comment: 7 affecteds from 3 families
All had severe dysmotility of the gut, leukoencephalopathy and/or progressive cortical atrophy and 1 family with cerebellar atrophy
All had epilepsy, stroke-like episodes, migraine and developmental delay, reminiscent of MELAS.

4 missense (K537N led to splicing defects) and 2 nonsense
molecular defects demonstrated on patients' fibroblasts
KO models done on zebrafish
Sources: Literature
Genetic Epilepsy v0.1317 ODC1 Belinda Chong gene: ODC1 was added
gene: ODC1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ODC1 were set to PMID:30475435; 30239107
Phenotypes for gene: ODC1 were set to Bachmann-Bupp syndrome 619075
Review for gene: ODC1 was set to RED
gene: ODC1 was marked as current diagnostic
Added comment: Epilepsy appears to be a rare feature of this syndrome.
Sources: Literature
Genetic Epilepsy v0.1317 NAA10 Krithika Murali reviewed gene: NAA10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29957440, 34200686; Phenotypes: Microphthalmia, syndromic 1 - 309800, Ogden syndrome - 300855, Seizures; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1317 KCTD13 Daniel Flanagan gene: KCTD13 was added
gene: KCTD13 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: KCTD13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCTD13 were set to PMID: 33409479
Review for gene: KCTD13 was set to RED
Added comment: Mouse model and in vitro evidence suggesting the deletion of KCTD13 has a similar metabolic affect as adenylosuccinate lyase deficiency, which has seizures and autistic features.
Sources: Expert list
Genetic Epilepsy v0.1317 OGT Belinda Chong gene: OGT was added
gene: OGT was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OGT were set to PMID: 28302723; 28584052; 31296563; 31627256; 29769320; 29606577
Phenotypes for gene: OGT were set to Intellectual developmental disorder, X-linked 106 MIM#300997
Review for gene: OGT was set to RED
gene: OGT was marked as current diagnostic
Added comment: Epilepsy appears to be a rare feature of this syndrome.
Sources: Literature
Vascular Malformations_Germline v1.8 GDF2 Bryony Thompson Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5 615506 to Telangiectasia, hereditary hemorrhagic, type 5 615506; pulmonary arteriovenous malformations
Vascular Malformations_Germline v1.7 GDF2 Bryony Thompson Publications for gene: GDF2 were set to 23972370
Hereditary Haemorrhagic Telangiectasia v1.4 GDF2 Bryony Thompson Mode of inheritance for gene: GDF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vascular Malformations_Germline v1.6 GDF2 Bryony Thompson Mode of inheritance for gene: GDF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vascular Malformations_Germline v1.5 GDF2 Bryony Thompson Classified gene: GDF2 as Green List (high evidence)
Vascular Malformations_Germline v1.5 GDF2 Bryony Thompson Gene: gdf2 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v1.4 GDF2 Bryony Thompson reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23972370, 27081547, 32573726, 32992168, 34611981, 33834622, 32669404, 26056270, 23972370, https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 615506, pulmonary arteriovenous malformations; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Haemorrhagic Telangiectasia v1.3 GDF2 Bryony Thompson edited their review of gene: GDF2: Changed phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 615506, pulmonary arteriovenous malformations
Hereditary Haemorrhagic Telangiectasia v1.3 GDF2 Bryony Thompson Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5 615506 to Telangiectasia, hereditary hemorrhagic, type 5 615506; pulmonary arteriovenous malformations
Hereditary Haemorrhagic Telangiectasia v1.2 GDF2 Bryony Thompson Publications for gene: GDF2 were set to 23972370; 27081547; 25674101
Hereditary Haemorrhagic Telangiectasia v1.1 GDF2 Bryony Thompson Classified gene: GDF2 as Green List (high evidence)
Hereditary Haemorrhagic Telangiectasia v1.1 GDF2 Bryony Thompson Gene: gdf2 has been classified as Green List (High Evidence).
Hereditary Haemorrhagic Telangiectasia v1.0 GDF2 Bryony Thompson edited their review of gene: GDF2: Added comment: 4 probands/families with heterozygous variants with features of HHT and supporting in vitro or patient cell assays.
2 probands - PMID: 23972370 - first publication of the HHT gene-disease association describing 3 probands with 3 different missense variants & supporting in vitro functional assays. 1 of the missense variants is present in gnomAD v2.1 at a frequency not expected for the disease (p.Arg333Trp, 115 hets; p.Arg68Leu, 0 hets; p.Pro85Leu, 2 hets)
0 probands - PMID: 27081547 - a suspected HHT case with missense p.Arg317Gln, which is present in 11 hets in gnomAD v2.1
0 probands - PMID: 32573726 - identified 4 GDF2 variants (3 missense and 1 synonymous splice site adjacent without strong splice predictions) in a cohort of HHT cases, 3 had likely pathogenic/pathogenic ENG variants that could explain the phenotype, including a case with GDF2 p.Arg333Trp which was reported as pathogenic in the original publication from 2013
0 probands - PMID: 32992168 - a case with PAVM and no other features of HHT with a heterozygous missense (p.Gly291Ser), which is present in 20 hets in gnomAD v2.1.
1 family - PMID: 34611981 - a suspected HHT case and affected mother had heterozygous missense variant (p.Glu355Gln). Another suspected HHT case had another heterozygous missense variant (p.Val403Ile), but there are 23 hets in gnomAD v2.1. Also, 2 cases with multi-gene deletions including GDF2.
1 family - https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356 - A novel heterozygous GDF2 missense variant was identified in one HHT family from the 100,000 Genomes Project and segregated with disease. The proband was severely affected, having presented in childhood with multiple PAVMs, frequent epistaxis, and typical HHT telangiectasia. Plasma samples form the family showed significantly lower circulating BMP9 levels in affected cars compared to controls

3 homozygous cases with features of HHT, including PAVM:
2 probands - PMID: 33834622 - 2 unrelated paediatric cases with homozygous nonsense variants (p.Gln26Ter, p.Glu279Ter) with facial telangiectases and either pulmonary arterial hypertension or pulmonary arteriovenous malformations (PAVM). Plasma levels of both BMP9 and BMP10 were undetectable. Heterozygous parents did not have any symptoms or clinical signs of HHT.
1 proband - PMID: 32669404 - an 8 yo with epistaxis and diffuse PAVM homozygous for c.1060_1062delinsAG, p.Tyr354ArgfsTer15 (consanguineous family). 7 yo sister homozygous for the same variant had no symptoms, except some telangiectasia. Heterozygous parents had telangiectasia or epistaxis

2 supporting knockout animal models:
PMID: 26056270 - knockout mouse model had imperfect closure of ductus arteriosus (an arterial connection in the foetus that directs blood flow away from the pulmonary circulation)
PMID: 23972370 - BMP9 knockdown experiments in zebrafish exhibited small but significant decreases in both anterior-posterior and dorsal-ventral axes, as well as subtle defects in the maturation of the caudal vein.; Changed rating: GREEN; Changed publications: 23972370, 27081547, 32573726, 32992168, 34611981, 33834622, 32669404, 26056270, 23972370, https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1317 KCNH1 Daniel Flanagan gene: KCNH1 was added
gene: KCNH1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH1 were set to PMID: 33594261
Phenotypes for gene: KCNH1 were set to seizures; epilepsy; intellectual disability; hypotonia; skeletal abnormalities; nail abnormalities
Added comment: 24/27 patients with KCNH1 variants have seizures/epilepsy. These patients also had intellectual disabilities, hypotonia, skeletal abnormalities and nail abnormalities.
Sources: Literature
Genetic Epilepsy v0.1317 NAGLU Krithika Murali gene: NAGLU was added
gene: NAGLU was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 34396902; 25818867; 8650226
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920; ?Charcot-Marie-Tooth disease, axonal, type 2V - 616491; Seizures
Review for gene: NAGLU was set to GREEN
Added comment: The association between bi-allelic variants and Sanfilippo B is well established. The disorder is characterized by the accumulation of heparan sulfate, resulting in progressive neurodegeneration, behavioural problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe. Seizures have been reported in affected individuals.

Two families reported with mono-allelic variants and CMT.
Sources: Expert list, Literature
Genetic Epilepsy v0.1317 OSGEP Belinda Chong gene: OSGEP was added
gene: OSGEP was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSGEP were set to PMID: 28805828; 33333793
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM#617729
Review for gene: OSGEP was set to GREEN
gene: OSGEP was marked as current diagnostic
Added comment: Epilepsy reported in multiple individuals with Galloway-Mowat syndrome 3
Sources: Literature
Genetic Epilepsy v0.1317 KCNN3 Daniel Flanagan gene: KCNN3 was added
gene: KCNN3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN3 were set to PMID: 33594261
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome
Review for gene: KCNN3 was set to RED
Added comment: PMID: 33594261. 0/5 patients with KCNN3 variants had seizures or epilepsy. 1 patient had suspected but not confirmed seizures.
Sources: Expert list
Hereditary Haemorrhagic Telangiectasia v1.0 GDF2 Bryony Thompson Deleted their comment
Genetic Epilepsy v0.1317 OSTC Belinda Chong gene: OSTC was added
gene: OSTC was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSTC were set to PMID: 32267060
Phenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation
Review for gene: OSTC was set to RED
Added comment: A patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.
Patient was homozygous for a canonical splice variant (c.431 + 1G > A), mRNA from patient's fibroblast showed mRNA transcript reduced 80-90%/aberrant splicing - predicting NMD.
GnomAD - 10 hets, 0 hom
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4207 NDUFA8 Krithika Murali gene: NDUFA8 was added
gene: NDUFA8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911; 33153867
Phenotypes for gene: NDUFA8 were set to Mitochondrial complex I deficiency, nuclear type 37- 619272; Epilepsy; Microcephaly; Developmental Delay
Review for gene: NDUFA8 was set to AMBER
Added comment: 3 individuals from 2 unrelated families reported with phenotypic features including microcephaly (1/3), seizures (2/3), developmental delay (3/3) and MRI-B changes (3/3).
Sources: Literature
Genetic Epilepsy v0.1317 NDUFA8 Krithika Murali gene: NDUFA8 was added
gene: NDUFA8 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911; 33153867
Phenotypes for gene: NDUFA8 were set to Mitochondrial complex I deficiency, nuclear type 37 - 619272; Epilepsy; Microcephaly; Developmental Delay
Review for gene: NDUFA8 was set to AMBER
Added comment: Second family reported with pair of affected siblings and homozygous missense variant, some functional data. 1 sibling had seizures.

Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I. Seizures reported.
Sources: Expert list, Literature
Genetic Epilepsy v0.1317 KCNC2 Daniel Flanagan gene: KCNC2 was added
gene: KCNC2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: KCNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNC2 were set to PMID:32392612; 31972370
Phenotypes for gene: KCNC2 were set to epileptic encephalopathy; spastic tetraplegia; opisthotonos attacks; intellectual disability; West syndrome
Review for gene: KCNC2 was set to AMBER
Added comment: PMID: 31972370. De novo missense variant (p.Val471Leu) identified in a child with early severe developmental and epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks.

PMID: 32392612. De novo missense variant (p.Asp167Tyr) identified in a neurofibromatosis type 1 related West syndrome patient. Functional analysis showed a significant reduction of the mean potassium current and a shift in the voltage dependence of steady-state activation. Maternally inherited NF1 variant (p.T1951Nfs*5) also identified, the mother was "clinically unremarkable".
Sources: Expert list
Genetic Epilepsy v0.1317 OTUD5 Belinda Chong gene: OTUD5 was added
gene: OTUD5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to PMID:33748114
Phenotypes for gene: OTUD5 were set to X-Linked Intellectual Disability and Congenital Malformation
Review for gene: OTUD5 was set to AMBER
Added comment: A hemizygous OTUD5 missense variant, c.878A>T, p.Asn293Ile [NM_017602.4], was identified in a family in two brothers with epilepsy and brain magnetic resonance imaging showed a thin corpus callosum and mild ventriculomegaly.
Sources: Literature
Genetic Epilepsy v0.1317 NOTCH3 Krithika Murali gene: NOTCH3 was added
gene: NOTCH3 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH3 were set to 33020014; 30776699; 21414809; 30056822; 17675836
Phenotypes for gene: NOTCH3 were set to ?Myofibromatosis, infantile 2 - 615293; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310; Lateral meningocele syndrome - 130720
Review for gene: NOTCH3 was set to RED
Added comment: CADASIL typically presents with adult-onset migraine, TIA/stroke, cognitive disorders. Seizures noted in 5-10% of patients with CADASIL, usually preceded by stroke. Less than 5 cases described of adult-onset epilepsy as initial presenting symptom of CADASIL. All had characteristic MRI-B changes and review of cases shows that a number of them had preceding migraine or other symptoms.

Not suitable for inclusion in genetic epilepsy panel as seizures are adult-onset, rarely observed, and usually develop as a secondary phenomenon.
Sources: Expert list, Literature
Genetic Epilepsy v0.1317 KCNAB3 Daniel Flanagan gene: KCNAB3 was added
gene: KCNAB3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: KCNAB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNAB3 were set to PMID: 32990398
Phenotypes for gene: KCNAB3 were set to febrile seizures; afebrile seizure; genetic epilepsy with febrile seizures plus
Review for gene: KCNAB3 was set to RED
Added comment: Missense variant identified in a single Han Chinese family with febrile seizures plus. Three affected carriers and one unaffected carrier. Patch clamp functional studies indicates that the variant accelerates the inactivation of the potassium channels.
Sources: Expert list
Genetic Epilepsy v0.1317 KCNA1 Daniel Flanagan gene: KCNA1 was added
gene: KCNA1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to PMID: 32316562
Phenotypes for gene: KCNA1 were set to Epilepsy; seizures; epileptic encephalopathies; episodic ataxia type 1 and epilepsy
Review for gene: KCNA1 was set to GREEN
Added comment: KCNA1 variants reported in patients with episodic ataxia type 1 with epilepsy and seizures. KCNA1 variants also reported in patients with epileptic encephalopathies alone. Epilepsy or seizure-related variants tend to cluster in the S1,S2,S5,S6 transmembrane domains and in the pore domain.
Sources: Expert list
Genetic Epilepsy v0.1317 DAB1 Daniel Flanagan gene: DAB1 was added
gene: DAB1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAB1 were set to PMID: 33928188
Phenotypes for gene: DAB1 were set to epilepsy; developmental delay; cerebellar ataxia; structural brain abnormalities; oral motor difficulty
Review for gene: DAB1 was set to RED
Added comment: WES trio analysis identified compound heterozygous DAB1 canonical splice variants in a child with epilepsy (onset 6 years), developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities. RT-PCR confirms that the first variant (c.307-2A>T) causes a in-frame deletion of 3 amino acids. The second variant (c.67+1G>T) is reported to causes an in-frame deletion of exon 4 (first coding exon) and loss of the ATG initiation site.

New LoF mechanism suggested. Repeat expansion in this gene is known to be associated with disease.
Sources: Expert list
Imprinting disorders v1.0 Zornitza Stark promoted panel to version 1.0
Imprinting disorders v0.40 SGCE Zornitza Stark Phenotypes for gene: SGCE were changed from Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia to Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia; Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044
Imprinting disorders v0.39 SGCE Zornitza Stark Marked gene: SGCE as ready
Imprinting disorders v0.39 SGCE Zornitza Stark Gene: sgce has been classified as Green List (High Evidence).
Imprinting disorders v0.39 SGCE Zornitza Stark Publications for gene: SGCE were set to 25209853; 23237735; 23365103; 30794780; 11528394; 12325078; 17200151
Imprinting disorders v0.38 SGCE Zornitza Stark Publications for gene: SGCE were set to PMID: 25209853; 23237735; 23365103; http://igc.otago.ac.nz/home.html; 30794780
Mendeliome v0.9389 ZAR1 Zornitza Stark Marked gene: ZAR1 as ready
Mendeliome v0.9389 ZAR1 Zornitza Stark Gene: zar1 has been classified as Red List (Low Evidence).
Mendeliome v0.9389 ZAR1 Zornitza Stark gene: ZAR1 was added
gene: ZAR1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ZAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZAR1 were set to 29574422; 31598710; 12539046
Phenotypes for gene: ZAR1 were set to Multi locus imprinting disturbance in offspring
Review for gene: ZAR1 was set to RED
Added comment: Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) with some features of Beckwith Wiedemann Syndrome. Shown to be a maternal effect gene that functions at the oocyte to embryo transition.
Sources: Expert Review
Imprinting disorders v0.36 ZAR1 Zornitza Stark Marked gene: ZAR1 as ready
Imprinting disorders v0.36 ZAR1 Zornitza Stark Gene: zar1 has been classified as Red List (Low Evidence).
Imprinting disorders v0.36 ZAR1 Zornitza Stark Classified gene: ZAR1 as Red List (low evidence)
Imprinting disorders v0.36 ZAR1 Zornitza Stark Gene: zar1 has been classified as Red List (Low Evidence).
Imprinting disorders v0.35 ZAR1 Zornitza Stark reviewed gene: ZAR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9388 UHRF1 Zornitza Stark Marked gene: UHRF1 as ready
Mendeliome v0.9388 UHRF1 Zornitza Stark Gene: uhrf1 has been classified as Red List (Low Evidence).
Mendeliome v0.9388 UHRF1 Zornitza Stark gene: UHRF1 was added
gene: UHRF1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: UHRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UHRF1 were set to 29574422; 28976982
Phenotypes for gene: UHRF1 were set to Multi locus imprinting disturbance in offspring
Review for gene: UHRF1 was set to RED
Added comment: Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and Silver Russell Syndrome phenotype. Maenohara et al demonstrate functions of UHRF1 during the global epigenetic reprogramming of oocytes and early embryos.
Sources: Expert Review
Imprinting disorders v0.35 UHRF1 Zornitza Stark Classified gene: UHRF1 as Red List (low evidence)
Imprinting disorders v0.35 UHRF1 Zornitza Stark Gene: uhrf1 has been classified as Red List (Low Evidence).
Imprinting disorders v0.34 UHRF1 Zornitza Stark reviewed gene: UHRF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Imprinting disorders v0.34 UHRF1 Zornitza Stark Marked gene: UHRF1 as ready
Imprinting disorders v0.34 UHRF1 Zornitza Stark Gene: uhrf1 has been classified as Amber List (Moderate Evidence).
Imprinting disorders v0.34 UHRF1 Zornitza Stark Classified gene: UHRF1 as Amber List (moderate evidence)
Imprinting disorders v0.34 UHRF1 Zornitza Stark Gene: uhrf1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4207 MAGEL2 Zornitza Stark Marked gene: MAGEL2 as ready
Intellectual disability syndromic and non-syndromic v0.4207 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4207 MAGEL2 Zornitza Stark Phenotypes for gene: MAGEL2 were changed from to Schaaf-Yang syndrome, MIM# 615547
Intellectual disability syndromic and non-syndromic v0.4206 MAGEL2 Zornitza Stark Publications for gene: MAGEL2 were set to
Intellectual disability syndromic and non-syndromic v0.4205 MAGEL2 Zornitza Stark Mode of inheritance for gene: MAGEL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.4204 MAGEL2 Zornitza Stark reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24076603, 31397880, 29599419, 30302899; Phenotypes: Schaaf-Yang syndrome, MIM# 615547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.9387 MAGEL2 Zornitza Stark Marked gene: MAGEL2 as ready
Mendeliome v0.9387 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Mendeliome v0.9387 MAGEL2 Zornitza Stark Phenotypes for gene: MAGEL2 were changed from to Schaaf-Yang syndrome, MIM# 615547
Mendeliome v0.9386 MAGEL2 Zornitza Stark Publications for gene: MAGEL2 were set to
Mendeliome v0.9385 MAGEL2 Zornitza Stark Mode of inheritance for gene: MAGEL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.9384 MAGEL2 Zornitza Stark reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24076603, 31397880, 29599419, 30302899; Phenotypes: Schaaf-Yang syndrome, MIM# 615547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Imprinting disorders v0.33 MAGEL2 Zornitza Stark Marked gene: MAGEL2 as ready
Imprinting disorders v0.33 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Imprinting disorders v0.33 MAGEL2 Zornitza Stark Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome; Chitayat-Hall Syndrome to Schaaf-Yang syndrome, MIM# 615547; Chitayat-Hall Syndrome
Imprinting disorders v0.32 MAGEL2 Zornitza Stark Classified gene: MAGEL2 as Green List (high evidence)
Imprinting disorders v0.32 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Imprinting disorders v0.31 MAGEL2 Zornitza Stark reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schaaf-Yang syndrome, MIM# 615547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Imprinting disorders v0.31 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Imprinting disorders v0.31 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Imprinting disorders v0.31 KCNQ1 Zornitza Stark Publications for gene: KCNQ1 were set to PMID 30635621; 32393365; 30778172
Imprinting disorders v0.30 KCNQ1 Zornitza Stark Classified gene: KCNQ1 as Amber List (moderate evidence)
Imprinting disorders v0.30 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9384 L3MBTL1 Zornitza Stark Marked gene: L3MBTL1 as ready
Mendeliome v0.9384 L3MBTL1 Zornitza Stark Gene: l3mbtl1 has been classified as Red List (Low Evidence).
Mendeliome v0.9384 L3MBTL1 Zornitza Stark gene: L3MBTL1 was added
gene: L3MBTL1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: L3MBTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: L3MBTL1 were set to 23543057; 15123827; 30794780
Phenotypes for gene: L3MBTL1 were set to Affected tissue: myeloid lineages; Phenotype resulting from under expression: lymphoid malignancy
Review for gene: L3MBTL1 was set to RED
Added comment: Germline variation in this imprinted gene is not currently associated with disease.

Somatic deletions of 20q are associated with chronic myeloid malignancies. Aziz et al showed that a single heterozygous 20q deletion consistently resulted in the complete loss of expression of the imprinted genes L3MBTL1 and SGK2, indicative of a pathogenetic role for loss of the active paternally inherited locus. Concomitant loss of both L3MBTL1 and SGK2 dysregulated erythropoiesis and megakaryopoiesis.
Sources: Expert Review
Mendeliome v0.9383 KCNQ1OT1 Zornitza Stark Marked gene: KCNQ1OT1 as ready
Mendeliome v0.9383 KCNQ1OT1 Zornitza Stark Gene: kcnq1ot1 has been classified as Red List (Low Evidence).
Imprinting disorders v0.29 L3MBTL1 Zornitza Stark Marked gene: L3MBTL1 as ready
Imprinting disorders v0.29 L3MBTL1 Zornitza Stark Gene: l3mbtl1 has been classified as Red List (Low Evidence).
Imprinting disorders v0.29 L3MBTL1 Zornitza Stark Publications for gene: L3MBTL1 were set to http://igc.otago.ac.nz/home.html; 23543057; PMID: 15123827; 30794780
Imprinting disorders v0.28 L3MBTL1 Zornitza Stark Classified gene: L3MBTL1 as Red List (low evidence)
Imprinting disorders v0.28 L3MBTL1 Zornitza Stark Gene: l3mbtl1 has been classified as Red List (Low Evidence).
Mendeliome v0.9383 KCNQ1OT1 Zornitza Stark gene: KCNQ1OT1 was added
gene: KCNQ1OT1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KCNQ1OT1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: KCNQ1OT1 were set to 22205991; 15372379; 23511928; 30794780; 29377879; 10220444; 32447323; 33177595; 29047350
Phenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome OMIM:130650; Russell-Silver Syndrome
Review for gene: KCNQ1OT1 was set to AMBER
Added comment: Limited evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621). Expression is increased in BWS due to IC2 epimutations or paternal UPD.

Single nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172).
Sources: Expert Review
Imprinting disorders v0.27 KCNQ1OT1 Zornitza Stark Publications for gene: KCNQ1OT1 were set to 22205991; 15372379; 23511928; 30794780; 29377879; 10220444; 32447323; 33177595; 29047350
Imprinting disorders v0.26 KCNQ1OT1 Zornitza Stark Marked gene: KCNQ1OT1 as ready
Imprinting disorders v0.26 KCNQ1OT1 Zornitza Stark Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence).
Imprinting disorders v0.26 KCNQ1OT1 Zornitza Stark Phenotypes for gene: KCNQ1OT1 were changed from Beckwith-Wiedemann syndrome OMIM:130650 to Beckwith-Wiedemann syndrome OMIM:130650; Russell-Silver Syndrome
Imprinting disorders v0.25 KCNQ1OT1 Zornitza Stark Publications for gene: KCNQ1OT1 were set to 22205991; 15372379; 10220444; http://igc.otago.ac.nz/home.html; 23511928; 30794780
Imprinting disorders v0.24 KCNQ1OT1 Zornitza Stark Classified gene: KCNQ1OT1 as Amber List (moderate evidence)
Imprinting disorders v0.24 KCNQ1OT1 Zornitza Stark Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9382 H19 Zornitza Stark Marked gene: H19 as ready
Mendeliome v0.9382 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Mendeliome v0.9382 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: H19 were set to 20007505; 15743916; 23118352; 21863054; 21571108; 18245780; 24916376; 25943194
Phenotypes for gene: H19 were set to Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Affected tissue: all; Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome
Review for gene: H19 was set to RED
Added comment: Methylation changes rather than sequence variation are associated with BWS/RSS.
Sources: Expert Review
Additional findings_Paediatric v0.258 H19 Zornitza Stark Marked gene: H19 as ready
Additional findings_Paediatric v0.258 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.258 H19 Zornitza Stark Classified gene: H19 as Red List (low evidence)
Additional findings_Paediatric v0.258 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.257 H19 Zornitza Stark reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Imprinting disorders v0.23 H19 Zornitza Stark Marked gene: H19 as ready
Imprinting disorders v0.23 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Imprinting disorders v0.23 H19 Zornitza Stark Classified gene: H19 as Red List (low evidence)
Imprinting disorders v0.23 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Imprinting disorders v0.22 H19 Zornitza Stark reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: 20007505, 15743916, 23118352, 21863054, 21571108, 18245780, 24916376, 25943194; Phenotypes: Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation), Affected tissue: all, Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Imprinting disorders v0.22 GNAS Zornitza Stark Marked gene: GNAS as ready
Imprinting disorders v0.22 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Imprinting disorders v0.22 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from Affected tissue: kidney, bone, brain; pseudopseudohypoparathyroidism; Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a to Affected tissue: kidney, bone, brain; pseudopseudohypoparathyroidism; Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a, MIM# 103580; Albright hereditary osteodystrophy
Imprinting disorders v0.21 GNAS Zornitza Stark Publications for gene: GNAS were set to 10980525; 11406605; 12024005; 15800843; 15181091; 9506752; 12024004; 15592469; 15592469; 11788646; 1944469; 2109828; 30794780
Imprinting disorders v0.20 GNAS Zornitza Stark Publications for gene: GNAS were set to 10980525; [11406605; 12024005; 15800843]; 15181091; 9506752; 12024004; http://igc.otago.ac.nz/home.html; 15592469; [15592469; 11788646; 1944469; PMID: 2109828; 30794780
Imprinting disorders v0.19 GNAS Zornitza Stark edited their review of gene: GNAS: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Imprinting disorders v0.19 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 15331575; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580, Albright hereditary osteodystrophy, Pseudohypoparathyroidism Ib, MIM# 603233; Mode of inheritance: None
Hereditary Neuropathy_CMT - isolated v1.10 GBF1 Zornitza Stark Phenotypes for gene: GBF1 were changed from Axonal Neuropathy to Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Axonal Neuropathy
Hereditary Neuropathy_CMT - isolated v1.9 GBF1 Zornitza Stark reviewed gene: GBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9381 GBF1 Zornitza Stark Phenotypes for gene: GBF1 were changed from Axonal Neuropathy to Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Axonal Neuropathy
Mendeliome v0.9380 GBF1 Zornitza Stark reviewed gene: GBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Syndromic Retinopathy v0.179 TMEM218 Zornitza Stark Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele
Syndromic Retinopathy v0.178 TMEM218 Zornitza Stark reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 39, MIM#619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9380 TMEM218 Zornitza Stark Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele
Mendeliome v0.9379 TMEM218 Zornitza Stark reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 39, MIM#619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v1.15 TMEM218 Zornitza Stark Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele
Joubert syndrome and other neurological ciliopathies v1.14 TMEM218 Zornitza Stark reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 39, MIM#619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Imprinting disorders v0.19 MAGEL2 Anna Le Fevre changed review comment from: MAGEL2 is a single-exon gene.
Frameshift mutations may not cause nonsense-mediated decay, but instead a variety of truncated or elongated protein products.
The pathogenicity of haploinsufficiency of the paternal allele is uncertain (ClinGen review 2018). A dominant-negative effect has been suggested. Haploinsufficiency may play a role.
Sources: Literature; to: Multiple reports.

MAGEL2 is a single-exon gene.
Frameshift mutations may not cause nonsense-mediated decay, but instead a variety of truncated or elongated protein products.
The pathogenicity of haploinsufficiency of the paternal allele is uncertain (ClinGen review 2018). A dominant-negative effect has been suggested. Haploinsufficiency may play a role.
Sources: Literature
Mendeliome v0.9379 OOEP Zornitza Stark Marked gene: OOEP as ready
Mendeliome v0.9379 OOEP Zornitza Stark Gene: ooep has been classified as Red List (Low Evidence).
Mendeliome v0.9379 OOEP Zornitza Stark gene: OOEP was added
gene: OOEP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OOEP were set to 29574422
Phenotypes for gene: OOEP were set to Multi locus imprinting disturbance in offspring
Review for gene: OOEP was set to RED
Added comment: Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and a transient neonatal diabetes mellitus phenotype.

This gene encodes part of the subcortical maternal complex (SCMC). Other genes in this group act as 'maternal effect' genes and are associated with early embryonic arrest, recurrent hydatiform mole and MLID in offspring.

As is the case for other genes encoding components of the SCMC, the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.

Functional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo.
Sources: Literature
Imprinting disorders v0.19 OOEP Zornitza Stark Marked gene: OOEP as ready
Imprinting disorders v0.19 OOEP Zornitza Stark Gene: ooep has been classified as Red List (Low Evidence).
Imprinting disorders v0.19 OOEP Zornitza Stark Classified gene: OOEP as Red List (low evidence)
Imprinting disorders v0.19 OOEP Zornitza Stark Gene: ooep has been classified as Red List (Low Evidence).
Imprinting disorders v0.18 OOEP Zornitza Stark reviewed gene: OOEP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9378 ZNF445 Zornitza Stark Marked gene: ZNF445 as ready
Mendeliome v0.9378 ZNF445 Zornitza Stark Gene: znf445 has been classified as Red List (Low Evidence).
Mendeliome v0.9378 ZNF445 Zornitza Stark gene: ZNF445 was added
gene: ZNF445 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZNF445 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF445 were set to 34039421; 30602440; 30846001
Phenotypes for gene: ZNF445 were set to Temple syndrome; Multi locus imprinting disturbance (MLID)
Review for gene: ZNF445 was set to RED
Added comment: Single report (Kagami 2021) of a child with Temple syndrome and MLID found to have a novel homozygous truncating variant in ZNF445.

ZNF445 has been shown to play a critical role in the maintenance of postfertilisation methylation imprints (Takahashi 2019). Mechanism and parent of origin effects remain uncertain.
Sources: Literature
Imprinting disorders v0.18 ZNF445 Zornitza Stark Marked gene: ZNF445 as ready
Imprinting disorders v0.18 ZNF445 Zornitza Stark Gene: znf445 has been classified as Red List (Low Evidence).
Imprinting disorders v0.18 ZNF445 Zornitza Stark Classified gene: ZNF445 as Red List (low evidence)
Imprinting disorders v0.18 ZNF445 Zornitza Stark Gene: znf445 has been classified as Red List (Low Evidence).
Imprinting disorders v0.17 ZNF445 Zornitza Stark reviewed gene: ZNF445: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Imprinting disorders v0.17 TLE6 Zornitza Stark Marked gene: TLE6 as ready
Imprinting disorders v0.17 TLE6 Zornitza Stark Gene: tle6 has been classified as Amber List (Moderate Evidence).
Imprinting disorders v0.17 TLE6 Zornitza Stark Classified gene: TLE6 as Amber List (moderate evidence)
Imprinting disorders v0.17 TLE6 Zornitza Stark Gene: tle6 has been classified as Amber List (Moderate Evidence).
Imprinting disorders v0.16 NLRP7 Zornitza Stark Publications for gene: NLRP7 were set to 19246479; 28916717; 31201414; 16462743; 29574422
Imprinting disorders v0.15 KHDC3L Zornitza Stark Marked gene: KHDC3L as ready
Imprinting disorders v0.15 KHDC3L Zornitza Stark Gene: khdc3l has been classified as Green List (High Evidence).
Imprinting disorders v0.15 KHDC3L Zornitza Stark Phenotypes for gene: KHDC3L were changed from Hydatiform mold recurrent 2 MIM#614293 to Hydatiform mole recurrent 2 MIM#614293
Imprinting disorders v0.14 KHDC3L Zornitza Stark Classified gene: KHDC3L as Green List (high evidence)
Imprinting disorders v0.14 KHDC3L Zornitza Stark Gene: khdc3l has been classified as Green List (High Evidence).
Imprinting disorders v0.13 KCNQ1 Anna Le Fevre changed review comment from: Proposed classification: Amber, pending further evidence.

The KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5 is located within KCNQ1 intron 10.

IC2 corresponds to the promoter of the long noncoding RNA KCNQ1OT1 and is methylated and inactive on the maternal chromosome. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the Beckwith-Wiedemann Syndrome (BWS) patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621).

Pathogenic variants in KCNQ1 are associated with long-QT syndrome (LQTS) and can be inherited on the paternal or maternal allele.

Loss of methylation (LOM) of IC2 has been reported in a small number of individuals with KCNQ1 germline variants which additionally cause LQTS. Valente et al (PMID 30635621) reported three individuals with LQTS, features of BWS and LOM at IC2 and maternally inherited KCNQ1 variants, two of which were demonstrated to affect KCNQ1 transcription upstream of IC2. Essinger et al (PMID 32393365) analysed KCNQ1 in 52 individuals with LOM at IC2 and identified one individual with a splice site variant causing premature transcription termination.

Microdeletions of IC2 variably involving KCNQ1, CDKN1C and KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. LoF in CDKN1C is a known cause of BWS.

Beygo et al (PMID 30778172) demonstrated that disruption of KCNQ1 prevents methylation of IC2 supporting the hypothesis that transcription of KCNQ1 is required for establishing the maternal methylation imprint at IC2.
Sources: Literature; to: Proposed classification: Amber, pending further evidence.

The KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5 is located within KCNQ1 intron 10.

IC2 corresponds to the promoter of the long noncoding RNA KCNQ1OT1 and is methylated and inactive on the maternal chromosome. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the Beckwith-Wiedemann Syndrome (BWS) patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621).

Pathogenic variants in KCNQ1 are associated with long-QT syndrome (LQTS) and can be inherited on the paternal or maternal allele.

Loss of methylation (LOM) of IC2 has been reported in a small number of individuals with KCNQ1 germline variants which additionally cause LQTS. Valente et al (PMID 30635621) reported three individuals with LQTS, features of BWS and LOM at IC2 and maternally inherited KCNQ1 variants, two of which were demonstrated to affect KCNQ1 transcription upstream of IC2. Essinger et al (PMID 32393365) analysed KCNQ1 in 52 individuals with LOM at IC2 and identified one individual with a splice site variant causing premature transcription termination.

Microdeletions of IC2 variably involving KCNQ1, CDKN1C and KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. Maternally inherited LoF variants in CDKN1C are a known cause of BWS.

Beygo et al (PMID 30778172) demonstrated that disruption of KCNQ1 prevents methylation of IC2 supporting the hypothesis that transcription of KCNQ1 is required for establishing the maternal methylation imprint at IC2.
Sources: Literature
Imprinting disorders v0.13 KCNQ1OT1 Anna Le Fevre changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621).

Single nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). ; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621). Expression is increased in BWS due to IC2 epimutations or paternal UPD.

Single nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172).
Imprinting disorders v0.13 KCNQ1OT1 Anna Le Fevre changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C.

Single nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). ; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621).

Single nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172).
Imprinting disorders v0.13 KCNQ1OT1 Anna Le Fevre changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C.

Single nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172). ; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C.

Single nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172).
Imprinting disorders v0.13 KCNQ1OT1 Anna Le Fevre changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. KCNQ1OT1 is maternally imprinted and paternally expressed.

Single nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172).

Genomic analysis of KCNQ1OT1 was not recommended as part of the diagnostic algorithm for suspected BWS in a 2018 international consensus review (PMID 29377879).; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C.

Single nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172).
Imprinting disorders v0.13 KCNQ1 Anna Le Fevre gene: KCNQ1 was added
gene: KCNQ1 was added to Imprinting disorders. Sources: Literature
Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: KCNQ1 were set to PMID 30635621; 32393365; 30778172
Phenotypes for gene: KCNQ1 were set to Beckwith-Wiedemann Syndrome
Penetrance for gene: KCNQ1 were set to unknown
Review for gene: KCNQ1 was set to AMBER
Added comment: Proposed classification: Amber, pending further evidence.

The KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5 is located within KCNQ1 intron 10.

IC2 corresponds to the promoter of the long noncoding RNA KCNQ1OT1 and is methylated and inactive on the maternal chromosome. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the Beckwith-Wiedemann Syndrome (BWS) patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621).

Pathogenic variants in KCNQ1 are associated with long-QT syndrome (LQTS) and can be inherited on the paternal or maternal allele.

Loss of methylation (LOM) of IC2 has been reported in a small number of individuals with KCNQ1 germline variants which additionally cause LQTS. Valente et al (PMID 30635621) reported three individuals with LQTS, features of BWS and LOM at IC2 and maternally inherited KCNQ1 variants, two of which were demonstrated to affect KCNQ1 transcription upstream of IC2. Essinger et al (PMID 32393365) analysed KCNQ1 in 52 individuals with LOM at IC2 and identified one individual with a splice site variant causing premature transcription termination.

Microdeletions of IC2 variably involving KCNQ1, CDKN1C and KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. LoF in CDKN1C is a known cause of BWS.

Beygo et al (PMID 30778172) demonstrated that disruption of KCNQ1 prevents methylation of IC2 supporting the hypothesis that transcription of KCNQ1 is required for establishing the maternal methylation imprint at IC2.
Sources: Literature
Imprinting disorders v0.13 KCNQ1OT1 Anna Le Fevre changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. KCNQ1OT1 is maternally imprinted and paternally expressed.

Single nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LOF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172).

Genomic analysis of KCNQ1OT1 was not recommended as part of the diagnostic algorithm for suspected BWS in a 2018 international consensus review (PMID 29377879).; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. KCNQ1OT1 is maternally imprinted and paternally expressed.

Single nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172).

Genomic analysis of KCNQ1OT1 was not recommended as part of the diagnostic algorithm for suspected BWS in a 2018 international consensus review (PMID 29377879).
Imprinting disorders v0.13 KCNQ1OT1 Anna Le Fevre changed review comment from: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory non-coding RNA KCNQ1OT1 and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. KCNQ1OT1 is maternally imprinted and paternally expressed.

Single nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involved neighboring genes KCNQ1 or CDKN1C. LOF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172).

Genomic analysis of KCNQ1OT1 was not recommended as part of the diagnostic algorithm for suspected BWS in a 2018 international consensus review (PMID 29377879).; to: Proposed classification: Amber, pending further evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. KCNQ1OT1 is maternally imprinted and paternally expressed.

Single nucleotide variants within KCNQ1OT1 have not been definitively association with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LOF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172).

Genomic analysis of KCNQ1OT1 was not recommended as part of the diagnostic algorithm for suspected BWS in a 2018 international consensus review (PMID 29377879).
Imprinting disorders v0.13 KCNQ1OT1 Anna Le Fevre reviewed gene: KCNQ1OT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29377879, 10220444, 32447323, 33177595, 29047350; Phenotypes: Growth restriction, Beckwith-Wiedemann Syndrome, Russell-Silver Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Imprinting disorders v0.13 L3MBTL1 Anna Le Fevre reviewed gene: L3MBTL1: Rating: RED; Mode of pathogenicity: None; Publications: 23543057; Phenotypes: ; Mode of inheritance: None
Imprinting disorders v0.13 ZAR1 Anna Le Fevre gene: ZAR1 was added
gene: ZAR1 was added to Imprinting disorders. Sources: Literature
Mode of inheritance for gene: ZAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZAR1 were set to 29574422; 31598710; 12539046
Phenotypes for gene: ZAR1 were set to Multi locus imprinting disturbance in offspring
Penetrance for gene: ZAR1 were set to unknown
Review for gene: ZAR1 was set to AMBER
Added comment: Proposed classification: Amber, pending further evidence.

Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) with some features of Beckwith Wiedemann Syndrome.

Shown to be a maternal effect gene that functions at the oocyte to embryo transition.
Sources: Literature
Imprinting disorders v0.13 UHRF1 Anna Le Fevre gene: UHRF1 was added
gene: UHRF1 was added to Imprinting disorders. Sources: Literature
Mode of inheritance for gene: UHRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UHRF1 were set to 29574422; 28976982
Phenotypes for gene: UHRF1 were set to Multi locus imprinting disturbance in offspring
Penetrance for gene: UHRF1 were set to unknown
Review for gene: UHRF1 was set to AMBER
Added comment: Proposed classification: Amber, pending further evidence.

Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and Silver Russell Syndrome phenotype.

Maenohara et al demonstrate functions of UHRF1 during the global epigenetic reprogramming of oocytes and early embryos.
Sources: Literature
Imprinting disorders v0.13 OOEP Anna Le Fevre gene: OOEP was added
gene: OOEP was added to Imprinting disorders. Sources: Literature
Mode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OOEP were set to 29574422
Phenotypes for gene: OOEP were set to Multi locus imprinting disturbance in offspring
Penetrance for gene: OOEP were set to unknown
Review for gene: OOEP was set to AMBER
Added comment: Proposed classification: Amber, pending further evidence.

Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and a transient neonatal diabetes mellitus phenotype.

This gene encodes part of the subcortical maternal complex (SCMC). Other genes in this group act as 'maternal effect' genes and are associated with early embryonic arrest, recurrent hydatiform mole and MLID in offspring.

As is the case for other genes encoding components of the SCMC, the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.

Functional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo.
Sources: Literature
Imprinting disorders v0.13 TLE6 Anna Le Fevre gene: TLE6 was added
gene: TLE6 was added to Imprinting disorders. Sources: Literature
Mode of inheritance for gene: TLE6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TLE6 were set to 26537248; 25542835
Phenotypes for gene: TLE6 were set to Pre-implantation embryonic lethality MIM#616814
Penetrance for gene: TLE6 were set to unknown
Review for gene: TLE6 was set to AMBER
Added comment: The first report of a single homozygous missense variant in three women from two families with primary infertility was published in 2015. In 2021, Zheng et al reported six biallelic variants in TLE6 in five patients with embryonic arrest, accompanied by direct cleavage and severe fragmentation at the cleavage stage. A mechanism is proposed.

I am uncertain regarding classification of this gene (amber vs green) due to the low specificity of this phenotype. I am uncertain if the changes seen in the early embryo, such as fragmentation, make this phenotype more specific.

As is the case for other genes encoding components of the subcortical maternal complex (SCMC), the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.

Functional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo.
Sources: Literature
Imprinting disorders v0.13 NLRP7 Anna Le Fevre edited their review of gene: NLRP7: Added comment: There is one report of an individual with recurrent hydatiform mole and biallelic variants in this gene who experienced a single digynic triploid pregnancy presenting as a CHM, whereas other pregnancies were BiCHM (23125094).; Changed publications: 16462743, 28561018, 29574422, 19246479, 22315435, 19066229, 23722513, 23125094
Imprinting disorders v0.13 KHDC3L Anna Le Fevre gene: KHDC3L was added
gene: KHDC3L was added to Imprinting disorders. Sources: Literature
Mode of inheritance for gene: KHDC3L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KHDC3L were set to 23232697; 31847873; 23125094; 21885028
Phenotypes for gene: KHDC3L were set to Hydatiform mold recurrent 2 MIM#614293
Penetrance for gene: KHDC3L were set to unknown
Review for gene: KHDC3L was set to GREEN
Added comment: Biallelic pathogenic variants in the gene have been associated with Biparental complete hydatifom mole (BiCHM) in multiple individuals. There is one report of an individual with recurrent hydatiform mole and biallelic variants in this gene who experienced a single digynic triploid pregnancy presenting as a CHM, whereas other pregnancies were BiCHM (23125094).

Most reported individuals have been found to carry biallelic pathogenic variants in this gene. A minority have been found to carry a heterozygous variant only. A relationship between zygosity and severity of the condition has not been definitively established.

As is the case for other genes encoding components of the subcortical maternal complex (SCMC), the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.

Functional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo.
Sources: Literature
Mendeliome v0.9377 NSRP1 Zornitza Stark Marked gene: NSRP1 as ready
Mendeliome v0.9377 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Mendeliome v0.9377 NSRP1 Zornitza Stark Classified gene: NSRP1 as Green List (high evidence)
Mendeliome v0.9377 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Mendeliome v0.9376 NSRP1 Zornitza Stark gene: NSRP1 was added
gene: NSRP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability
Review for gene: NSRP1 was set to GREEN
Added comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4204 NSRP1 Zornitza Stark Marked gene: NSRP1 as ready
Intellectual disability syndromic and non-syndromic v0.4204 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4204 NSRP1 Zornitza Stark Classified gene: NSRP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4204 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4203 NSRP1 Zornitza Stark reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.62 NSRP1 Zornitza Stark Marked gene: NSRP1 as ready
Microcephaly v1.62 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Microcephaly v1.62 NSRP1 Zornitza Stark Classified gene: NSRP1 as Green List (high evidence)
Microcephaly v1.62 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Microcephaly v1.61 NSRP1 Zornitza Stark reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.17 NSRP1 Zornitza Stark Marked gene: NSRP1 as ready
Cerebral Palsy v1.17 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.17 NSRP1 Zornitza Stark Classified gene: NSRP1 as Green List (high evidence)
Cerebral Palsy v1.17 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.16 NSRP1 Zornitza Stark reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1317 NSRP1 Zornitza Stark Marked gene: NSRP1 as ready
Genetic Epilepsy v0.1317 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1317 NSRP1 Zornitza Stark Classified gene: NSRP1 as Green List (high evidence)
Genetic Epilepsy v0.1317 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1316 NSRP1 Zornitza Stark reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Imprinting disorders v0.13 NLRP2 Zornitza Stark Marked gene: NLRP2 as ready
Imprinting disorders v0.13 NLRP2 Zornitza Stark Gene: nlrp2 has been classified as Green List (High Evidence).
Imprinting disorders v0.13 NLRP2 Zornitza Stark Phenotypes for gene: NLRP2 were changed from Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475 to Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475; Early embryonic arrest; Multi locus imprinting disturbance in offspring
Imprinting disorders v0.12 NLRP2 Zornitza Stark reviewed gene: NLRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Imprinting disorders v0.12 PADI6 Zornitza Stark Marked gene: PADI6 as ready
Imprinting disorders v0.12 PADI6 Zornitza Stark Gene: padi6 has been classified as Green List (High Evidence).
Imprinting disorders v0.12 PADI6 Zornitza Stark Mode of inheritance for gene: PADI6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Imprinting disorders v0.11 NLRP7 Zornitza Stark Marked gene: NLRP7 as ready
Imprinting disorders v0.11 NLRP7 Zornitza Stark Gene: nlrp7 has been classified as Green List (High Evidence).
Imprinting disorders v0.11 NLRP7 Zornitza Stark Mode of inheritance for gene: NLRP7 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9375 ERGIC1 Zornitza Stark Publications for gene: ERGIC1 were set to 28317099; 34037256
Mendeliome v0.9374 ERGIC1 Zornitza Stark Classified gene: ERGIC1 as Green List (high evidence)
Mendeliome v0.9374 ERGIC1 Zornitza Stark Gene: ergic1 has been classified as Green List (High Evidence).
Mendeliome v0.9373 ERGIC1 Zornitza Stark edited their review of gene: ERGIC1: Added comment: Pehlivan et al. 2019 (PMID:31230720) identified the third case of arthrogryposis in a child who harboured a previously unreported homozygous variant (c.782G>A; p.Gly261Asp) in this gene. Parents were heterozygous carriers. Functional studies were not performed.; Changed rating: GREEN; Changed publications: 28317099, 34037256, 31230720
Arthrogryposis v0.303 ERGIC1 Zornitza Stark Publications for gene: ERGIC1 were set to 28317099, 34037256; 31230720
Arthrogryposis v0.302 ERGIC1 Zornitza Stark Publications for gene: ERGIC1 were set to PMID: 28317099, 34037256
Arthrogryposis v0.301 ERGIC1 Zornitza Stark Classified gene: ERGIC1 as Green List (high evidence)
Arthrogryposis v0.301 ERGIC1 Zornitza Stark Gene: ergic1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4203 NSRP1 Krithika Murali gene: NSRP1 was added
gene: NSRP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability
Review for gene: NSRP1 was set to AMBER
Added comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy.
Sources: Literature
Microcephaly v1.61 NSRP1 Krithika Murali gene: NSRP1 was added
gene: NSRP1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability
Review for gene: NSRP1 was set to AMBER
Added comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy.
Sources: Literature
Cerebral Palsy v1.16 NSRP1 Krithika Murali gene: NSRP1 was added
gene: NSRP1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability
Review for gene: NSRP1 was set to AMBER
Added comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy.
Sources: Literature
Genetic Epilepsy v0.1316 NSRP1 Krithika Murali gene: NSRP1 was added
gene: NSRP1 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability
Review for gene: NSRP1 was set to AMBER
Added comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy.
Sources: Expert list, Literature
Imprinting disorders v0.10 NLRP2 Anna Le Fevre reviewed gene: NLRP2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30877238, 28317850, 29574422; Phenotypes: Early embryonic arrest, Multi locus imprinting disturbance in offspring; Mode of inheritance: None
Imprinting disorders v0.10 PADI6 Anna Le Fevre reviewed gene: PADI6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29693651, 33583041, 329228291, 33221824, 27545678; Phenotypes: Pre-implantation embryonic lethality 2 MIM#617234, Multi locus imprinting disturbance in offspring, Recurrent hydatiform mole; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4203 GABRD Zornitza Stark Marked gene: GABRD as ready
Intellectual disability syndromic and non-syndromic v0.4203 GABRD Zornitza Stark Gene: gabrd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4203 GABRD Zornitza Stark Classified gene: GABRD as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4203 GABRD Zornitza Stark Gene: gabrd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4202 GABRD Zornitza Stark gene: GABRD was added
gene: GABRD was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GABRD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRD were set to 15115768; 34633442
Phenotypes for gene: GABRD were set to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060
Review for gene: GABRD was set to GREEN
Added comment: Susceptibility to epilepsy, MIM#613060: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.

PMID 34633442: 10 individuals with 7 unique variants reported in individuals with neurodevelopmental disorders and epilepsy. Six of the variants were demonstrated to be GoF, and those individuals with neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. In contrast, the one individual carrying a loss-of-function variant had normal intelligence, no seizure history but has a diagnosis of autism spectrum disorder and suffering from elevated internalizing psychiatric symptoms.
Sources: Literature
Genetic Epilepsy v0.1316 GABRD Zornitza Stark Marked gene: GABRD as ready
Genetic Epilepsy v0.1316 GABRD Zornitza Stark Gene: gabrd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1316 GABRD Zornitza Stark Classified gene: GABRD as Green List (high evidence)
Genetic Epilepsy v0.1316 GABRD Zornitza Stark Gene: gabrd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1315 GABRD Zornitza Stark gene: GABRD was added
gene: GABRD was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GABRD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRD were set to 15115768; 34633442
Phenotypes for gene: GABRD were set to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060
Review for gene: GABRD was set to GREEN
Added comment: Susceptibility to epilepsy, MIM#613060: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.

PMID 34633442: 10 individuals with 7 unique variants reported in individuals with neurodevelopmental disorders and epilepsy. Six of the variants were demonstrated to be GoF, and those individuals with neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. In contrast, the one individual carrying a loss-of-function variant had normal intelligence, no seizure history but has a diagnosis of autism spectrum disorder and suffering from elevated internalizing psychiatric symptoms.
Sources: Literature
Neurotransmitter Defects v1.5 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060
Neurotransmitter Defects v1.5 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060
Neurotransmitter Defects v1.4 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060
Neurotransmitter Defects v1.3 GABRD Zornitza Stark Publications for gene: GABRD were set to 15115768
Neurotransmitter Defects v1.2 GABRD Zornitza Stark Classified gene: GABRD as Green List (high evidence)
Neurotransmitter Defects v1.2 GABRD Zornitza Stark Gene: gabrd has been classified as Green List (High Evidence).
Neurotransmitter Defects v1.1 GABRD Zornitza Stark changed review comment from: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.; to: Susceptibility to epilepsy, MIM#613060: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.
Neurotransmitter Defects v1.1 GABRD Zornitza Stark edited their review of gene: GABRD: Added comment: 10 individuals with 7 unique variants reported in individuals with neurodevelopmental disorders and epilepsy. Six of the variants were demonstrated to be GoF, and those individuals with neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. In contrast, the one individual carrying a loss-of-function variant had normal intelligence, no seizure history but has a diagnosis of autism spectrum disorder and suffering from elevated internalizing psychiatric symptoms.; Changed rating: GREEN; Changed publications: 15115768, 34633442; Changed phenotypes: Intellectual disability, Epilepsy, Susceptibility to epilepsy, MIM#613060
Mendeliome v0.9373 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from Susceptibility to epilepsy, MIM#613060 to Susceptibility to epilepsy, MIM#613060
Mendeliome v0.9372 GABRD Zornitza Stark Publications for gene: GABRD were set to 15115768
Mendeliome v0.9371 GABRD Zornitza Stark Classified gene: GABRD as Green List (high evidence)
Mendeliome v0.9371 GABRD Zornitza Stark Gene: gabrd has been classified as Green List (High Evidence).
Mendeliome v0.9370 GABRD Zornitza Stark changed review comment from: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.; to: Susceptibility to epilepsy, MIM#613060: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.
Mendeliome v0.9370 GABRD Zornitza Stark edited their review of gene: GABRD: Added comment: 10 individuals with 7 unique variants reported in individuals with neurodevelopmental disorders and epilepsy. Six of the variants were demonstrated to be GoF, and those individuals with neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. In contrast, the one individual carrying a loss-of-function variant had normal intelligence, no seizure history but has a diagnosis of autism spectrum disorder and suffering from elevated internalizing psychiatric symptoms.; Changed rating: GREEN; Changed publications: 15115768, 34633442; Changed phenotypes: Intellectual disability, Epilepsy, Susceptibility to epilepsy, MIM#613060
Imprinting disorders v0.10 NLRP7 Anna Le Fevre reviewed gene: NLRP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16462743, 28561018, 29574422, 19246479, 22315435, 19066229, 23722513; Phenotypes: Biparental complete hydatiform mole, Hydatiform mole, recurrent 1 MIM#231090, Multi locus imprinting disturbance in offspring, reproductive loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.300 ERGIC1 Arina Puzriakova reviewed gene: ERGIC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230720; Phenotypes: Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1314 CXorf56 Zornitza Stark Marked gene: CXorf56 as ready
Genetic Epilepsy v0.1314 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1314 CXorf56 Zornitza Stark Classified gene: CXorf56 as Green List (high evidence)
Genetic Epilepsy v0.1314 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1313 CXorf56 Zornitza Stark gene: CXorf56 was added
gene: CXorf56 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CXorf56 were set to 29374277; 31822863
Phenotypes for gene: CXorf56 were set to Mental retardation, X-linked 107, MIM# 301013
Review for gene: CXorf56 was set to GREEN
Added comment: Four families reported, seizures in males, who tend to be more severe.
Sources: Literature
Genetic Epilepsy v0.1312 CWF19L1 Zornitza Stark Marked gene: CWF19L1 as ready
Genetic Epilepsy v0.1312 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1312 CWF19L1 Zornitza Stark gene: CWF19L1 was added
gene: CWF19L1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 33012273
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, MIM# 616127
Review for gene: CWF19L1 was set to RED
Added comment: Well established gene-disease association, but only single report of epilepsy.
Sources: Literature
Mendeliome v0.9370 NLRP5 Zornitza Stark Phenotypes for gene: NLRP5 were changed from Early embryonic arrest to Early embryonic arrest; Multi locus imprinting disturbance in offspring
Mendeliome v0.9369 NLRP5 Zornitza Stark Publications for gene: NLRP5 were set to 32222962; 31829238; 30877238
Mendeliome v0.9368 NLRP5 Zornitza Stark Mode of inheritance for gene: NLRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9367 NLRP5 Zornitza Stark Classified gene: NLRP5 as Green List (high evidence)
Mendeliome v0.9367 NLRP5 Zornitza Stark Gene: nlrp5 has been classified as Green List (High Evidence).
Mendeliome v0.9366 NLRP5 Zornitza Stark edited their review of gene: NLRP5: Added comment: 'Maternal effect gene'
Part of the subcortical maternal complex

Report of five mothers carrying either monoallelic or biallelic variants in NLRP5, who had both unaffected offspring and offspring with BWS-MLID (Doherty 2015). Report of one family where the mother carried biallelic variants in NLRP5, had one offspring with BWS, one unaffected offspring and multiple miscarriages (Sparago 2019).

Reports of at least three unrelated individuals with recurrent early embryonic arrest carrying biallelic variants in NLRP5. Functional work suggesting protein degradation in affected human cell lines (Mu 2019, Xu 2020).; Changed rating: GREEN; Changed publications: 32222962, 31829238, 30877238, 26323243, 34440388; Changed phenotypes: Early embryonic arrest, Multi locus imprinting disturbance in offspring; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Imprinting disorders v0.10 NLRP5 Zornitza Stark Marked gene: NLRP5 as ready
Imprinting disorders v0.10 NLRP5 Zornitza Stark Gene: nlrp5 has been classified as Green List (High Evidence).
Imprinting disorders v0.10 NLRP5 Zornitza Stark Publications for gene: NLRP5 were set to 26323243; 31201414; 31829238
Imprinting disorders v0.9 NLRP5 Zornitza Stark Mode of inheritance for gene: NLRP5 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4201 TNPO2 Zornitza Stark Phenotypes for gene: TNPO2 were changed from Intellectual disability, neurologic deficits and dysmorphic features to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
Intellectual disability syndromic and non-syndromic v0.4200 TNPO2 Zornitza Stark reviewed gene: TNPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556; Mode of inheritance: None
Genetic Epilepsy v0.1311 TNPO2 Zornitza Stark Phenotypes for gene: TNPO2 were changed from Intellectual disability, neurologic deficits and dysmorphic features to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
Genetic Epilepsy v0.1310 TNPO2 Zornitza Stark edited their review of gene: TNPO2: Changed phenotypes: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
Microcephaly v1.61 TNPO2 Zornitza Stark Phenotypes for gene: TNPO2 were changed from Intellectual disability, neurologic deficits and dysmorphic features to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
Microcephaly v1.60 TNPO2 Zornitza Stark edited their review of gene: TNPO2: Changed phenotypes: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
Mendeliome v0.9366 TNPO2 Zornitza Stark Phenotypes for gene: TNPO2 were changed from Intellectual disability, neurologic deficits and dysmorphic features to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
Mendeliome v0.9365 TNPO2 Zornitza Stark reviewed gene: TNPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556; Mode of inheritance: None
Imprinting disorders v0.8 NLRP5 Anna Le Fevre edited their review of gene: NLRP5: Added comment: Most reported individuals with recurrent early embryonic arrest or mothers of children with MLID have been found to carry biallelic pathogenic variants in this gene. A minority have only been found to carry a heterozygous variant only. A relationship between zygosity and severity of the condition has not been definitively established.

As is the case for other genes encoding components of the subcortical maternal complex (SCMC), the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.

Functional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo.; Changed phenotypes: Early embryonic arrest, Multi locus imprinting disturbance in offspring
Growth failure v1.10 STAT5B Zornitza Stark Mode of inheritance for gene: STAT5B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9365 DSTYK Zornitza Stark changed review comment from: Mono-allelic variants and CAKUT: Multiple families reported, zebrafish model has multiple congenital anomalies including of the GU tract. Established gene-disease association.

Bi-allelic variants and HSP: Three families reported, but all had same intragenic deletion/insertion, suggestive of founder effect.; to: Mono-allelic variants and CAKUT: Multiple families reported, zebrafish model has multiple congenital anomalies including of the GU tract. Disputed gene-disease association as original variants present at relatively high pop frequency as per review by Ain Roesley.

Bi-allelic variants and HSP: Three families reported, but all had same intragenic deletion/insertion, suggestive of founder effect.
Mendeliome v0.9365 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9365 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.90 DSTYK Zornitza Stark Tag disputed tag was added to gene: DSTYK.
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.90 DSTYK Zornitza Stark Classified gene: DSTYK as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.90 DSTYK Zornitza Stark Gene: dstyk has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.89 DSTYK Ain Roesley reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: 23862974; Phenotypes: Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9364 DSTYK Ain Roesley reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: 23862974; Phenotypes: Congenital anomalies of kidney and urinary tract 1, MIM# 610805, Spastic paraplegia 23, MIM# 270750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1310 CPT1A Zornitza Stark Marked gene: CPT1A as ready
Genetic Epilepsy v0.1310 CPT1A Zornitza Stark Gene: cpt1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1310 CPT1A Zornitza Stark Classified gene: CPT1A as Amber List (moderate evidence)
Genetic Epilepsy v0.1310 CPT1A Zornitza Stark Gene: cpt1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1309 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT1A were set to 12189492; 33565078
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, MIM# 255120
Review for gene: CPT1A was set to AMBER
Added comment: Well established gene-disease association.

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycaemia usually occurring after fasting or illness. Onset is in infancy or early childhood.

Case report of presentation with seizures.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4200 KCTD3 Zornitza Stark Marked gene: KCTD3 as ready
Intellectual disability syndromic and non-syndromic v0.4200 KCTD3 Zornitza Stark Gene: kctd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4200 KCTD3 Zornitza Stark Phenotypes for gene: KCTD3 were changed from to Epilepsy; Intellectual disability; Posterior fossa abnormalities
Intellectual disability syndromic and non-syndromic v0.4199 KCTD3 Zornitza Stark Publications for gene: KCTD3 were set to
Intellectual disability syndromic and non-syndromic v0.4198 KCTD3 Zornitza Stark Mode of inheritance for gene: KCTD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4197 KCTD3 Zornitza Stark reviewed gene: KCTD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29406573; Phenotypes: Epilepsy, Intellectual disability, Posterior fossa abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9364 KCTD3 Zornitza Stark Marked gene: KCTD3 as ready
Mendeliome v0.9364 KCTD3 Zornitza Stark Gene: kctd3 has been classified as Green List (High Evidence).
Mendeliome v0.9364 KCTD3 Zornitza Stark Phenotypes for gene: KCTD3 were changed from to Epilepsy; Intellectual disability; Posterior fossa abnormalities
Mendeliome v0.9363 KCTD3 Zornitza Stark Publications for gene: KCTD3 were set to
Genetic Epilepsy v0.1308 KCTD3 Zornitza Stark Marked gene: KCTD3 as ready
Genetic Epilepsy v0.1308 KCTD3 Zornitza Stark Gene: kctd3 has been classified as Green List (High Evidence).
Mendeliome v0.9362 KCTD3 Zornitza Stark Mode of inheritance for gene: KCTD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1308 KCTD3 Zornitza Stark Phenotypes for gene: KCTD3 were changed from to Epilepsy; Intellectual disability; Posterior fossa abnormalities
Mendeliome v0.9361 KCTD3 Zornitza Stark reviewed gene: KCTD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29406573; Phenotypes: Epilepsy, Intellectual disability, Posterior fossa abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1307 KCTD3 Zornitza Stark Publications for gene: KCTD3 were set to
Genetic Epilepsy v0.1306 KCTD3 Zornitza Stark Mode of inheritance for gene: KCTD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1305 KCTD3 Zornitza Stark reviewed gene: KCTD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29406573; Phenotypes: Epilepsy, Intellectual disability, Posterior fossa abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1305 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Genetic Epilepsy v0.1305 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1305 POLR3B Zornitza Stark Classified gene: POLR3B as Green List (high evidence)
Genetic Epilepsy v0.1305 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1304 PPP1CB Zornitza Stark Marked gene: PPP1CB as ready
Genetic Epilepsy v0.1304 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1304 PPP1CB Zornitza Stark Classified gene: PPP1CB as Amber List (moderate evidence)
Genetic Epilepsy v0.1304 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9361 GYPC Zornitza Stark Marked gene: GYPC as ready
Mendeliome v0.9361 GYPC Zornitza Stark Gene: gypc has been classified as Red List (Low Evidence).
Mendeliome v0.9361 GYPC Zornitza Stark Phenotypes for gene: GYPC were changed from to [Blood group, Gerbich] MIM#616089
Mendeliome v0.9360 GYPC Zornitza Stark Publications for gene: GYPC were set to
Mendeliome v0.9359 GYPC Zornitza Stark Mode of inheritance for gene: GYPC was changed from Unknown to Other
Mendeliome v0.9358 GYPC Zornitza Stark Classified gene: GYPC as Red List (low evidence)
Mendeliome v0.9358 GYPC Zornitza Stark Gene: gypc has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1303 SMARCB1 Zornitza Stark Phenotypes for gene: SMARCB1 were changed from Coffin-Siris syndrome and epilepsy to Coffin-Siris syndrome 3, MIM# 614608; Epilepsy
Genetic Epilepsy v0.1302 SMARCB1 Zornitza Stark Classified gene: SMARCB1 as Green List (high evidence)
Genetic Epilepsy v0.1302 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1301 SMARCB1 Zornitza Stark Marked gene: SMARCB1 as ready
Genetic Epilepsy v0.1301 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1301 SMARCB1 Zornitza Stark Publications for gene: SMARCB1 were set to PMID:33006724
Genetic Epilepsy v0.1300 SMARCB1 Zornitza Stark Classified gene: SMARCB1 as Green List (high evidence)
Genetic Epilepsy v0.1300 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1299 SMARCB1 Zornitza Stark reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686; Phenotypes: Coffin-Siris syndrome 3, MIM# 614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1299 SMARCB1 Zornitza Stark Classified gene: SMARCB1 as Red List (low evidence)
Genetic Epilepsy v0.1299 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4197 TARS2 Zornitza Stark Marked gene: TARS2 as ready
Intellectual disability syndromic and non-syndromic v0.4197 TARS2 Zornitza Stark Gene: tars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4197 TARS2 Zornitza Stark Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21 - 615918; Epilepsy; Developmental Delay to Combined oxidative phosphorylation deficiency 21, MIM# 615918; Epilepsy; Developmental Delay
Intellectual disability syndromic and non-syndromic v0.4196 TARS2 Zornitza Stark Classified gene: TARS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4196 TARS2 Zornitza Stark Gene: tars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.653 TARS2 Zornitza Stark Publications for gene: TARS2 were set to 24827421; 26811336; 33153448
Mitochondrial disease v0.652 TARS2 Zornitza Stark Classified gene: TARS2 as Green List (high evidence)
Mitochondrial disease v0.652 TARS2 Zornitza Stark Gene: tars2 has been classified as Green List (High Evidence).
Mendeliome v0.9357 TARS2 Zornitza Stark Publications for gene: TARS2 were set to 24827421; 26811336; 33153448
Mendeliome v0.9356 TARS2 Zornitza Stark Classified gene: TARS2 as Green List (high evidence)
Mendeliome v0.9356 TARS2 Zornitza Stark Gene: tars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1298 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Genetic Epilepsy v0.1298 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1298 SMARCA4 Zornitza Stark Classified gene: SMARCA4 as Red List (low evidence)
Genetic Epilepsy v0.1298 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence).
Arthrogryposis v0.300 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Arthrogryposis v0.300 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Arthrogryposis v0.300 SLC29A3 Zornitza Stark Classified gene: SLC29A3 as Green List (high evidence)
Arthrogryposis v0.300 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Arthrogryposis v0.299 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Arthrogryposis. Sources: Expert Review
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 18940313; 19336477; 22238637
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Review for gene: SLC29A3 was set to GREEN
Added comment: Joint contractures are a feature.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4195 ABHD16A Zornitza Stark reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9355 GYPC Paul De Fazio reviewed gene: GYPC: Rating: RED; Mode of pathogenicity: None; Publications: 29469208; Phenotypes: [Blood group, Gerbich] MIM#616089; Mode of inheritance: Other; Current diagnostic: yes
Genetic Epilepsy v0.1297 SMARCB1 Belinda Chong gene: SMARCB1 was added
gene: SMARCB1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCB1 were set to PMID:33006724
Phenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome and epilepsy
Review for gene: SMARCB1 was set to RED
Added comment: A single 8-year-old male with a p.Arg366Cys mutation of the SMARCB1 gene. Speech impairment and intellectual disability were reported. At the age of 6.3 years, he experienced his first generalized seizure during sleep. CBZ (16 mg/kg/day) was started and later switched to VPA (22 mg/kg/day) that could exert an additional role as a mood stabilizer, from which the hyperactive patient could benefit. Since then, he has been seizure-free. Brain MRI was normal.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4195 TARS2 Krithika Murali gene: TARS2 was added
gene: TARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS2 were set to 33153448; 24827421; 34508595
Phenotypes for gene: TARS2 were set to Combined oxidative phosphorylation deficiency 21 - 615918; Epilepsy; Developmental Delay
Review for gene: TARS2 was set to GREEN
Added comment: 8 cases from 7 unrelated families are reported in the literature with a heterogenous phenotype characterised by either early-onset illness within the first months, of severe hypotonia, failure to thrive, epilepsy and early death, or onset after six months with a milder course and longer survival. Other phenotypic features include developmental delay (at least 3 out of 8 cases), MRI-B abnormalities and more rarely dystonia, regression, hyperhidrosis and hearing impairment.
Sources: Literature
Mitochondrial disease v0.651 TARS2 Krithika Murali reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 - 615918, Epilepsy, Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9355 TARS2 Krithika Murali reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 - 615918, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1297 SMARCA4 Belinda Chong gene: SMARCA4 was added
gene: SMARCA4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA4 were set to 33333793
Phenotypes for gene: SMARCA4 were set to Refractory seizures
Review for gene: SMARCA4 was set to RED
Added comment: A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: Single patient with seizure onset at 3months old (de novo variant c.3595G>A, p.Val199Met).
Sources: Literature
Short QT syndrome v1.3 KCNH2 Zornitza Stark Marked gene: KCNH2 as ready
Short QT syndrome v1.3 KCNH2 Zornitza Stark Gene: kcnh2 has been classified as Green List (High Evidence).
Short QT syndrome v1.3 KCNH2 Zornitza Stark Phenotypes for gene: KCNH2 were changed from to Short QT syndrome
Short QT syndrome v1.2 KCNH2 Zornitza Stark Publications for gene: KCNH2 were set to 34557911
Short QT syndrome v1.1 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Short QT syndrome v1.1 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Short QT syndrome v1.1 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Short QT syndrome 1; bradycardia; atrial fibrillation
Genetic Epilepsy v0.1297 PPP1CB Ain Roesley gene: PPP1CB was added
gene: PPP1CB was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 33333793; 30236064
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506
Penetrance for gene: PPP1CB were set to Complete
Review for gene: PPP1CB was set to AMBER
Added comment: PMID:33333793
1x de novo missense. Apnea, eye gazed deviation, myoclonic seizures

PMID:30236064
1x de novo missense. infant presented with severe intractable epileptic spasms

>20 individuals reported with this syndrome
Sources: Literature
Catecholaminergic Polymorphic Ventricular Tachycardia v0.30 TRDN Zornitza Stark Marked gene: TRDN as ready
Catecholaminergic Polymorphic Ventricular Tachycardia v0.30 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.30 TRDN Zornitza Stark Phenotypes for gene: TRDN were changed from to Triadin knockout syndrome; CPVT; atypical LQTS phenotype
Catecholaminergic Polymorphic Ventricular Tachycardia v0.29 TRDN Zornitza Stark Publications for gene: TRDN were set to
Genetic Epilepsy v0.1297 POLR3B Ain Roesley gene: POLR3B was added
gene: POLR3B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: POLR3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLR3B were set to 33417887
Phenotypes for gene: POLR3B were set to ataxia, spasticity, and demyelinating neuropathy
Penetrance for gene: POLR3B were set to unknown
Review for gene: POLR3B was set to GREEN
Added comment: 3/6 individuals with de novo missense presented with seizures
Sources: Literature
Short QT syndrome v1.0 Zornitza Stark promoted panel to version 1.0
Short QT syndrome v0.13 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Short QT syndrome v0.13 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Short QT syndrome v0.13 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from to Short QT syndrome
Genetic Epilepsy v0.1297 POU3F3 Ain Roesley gene: POU3F3 was added
gene: POU3F3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POU3F3 were set to 31303265; 33645921
Phenotypes for gene: POU3F3 were set to Snijders Blok-Fisher syndrome MIM#618604
Penetrance for gene: POU3F3 were set to unknown
Review for gene: POU3F3 was set to AMBER
Added comment: Seizures a rare feature. Only 3 out of 20 individuals presented with seizures.
Sources: Literature
Incidentalome v0.81 CACNA2D1 Zornitza Stark Marked gene: CACNA2D1 as ready
Incidentalome v0.81 CACNA2D1 Zornitza Stark Gene: cacna2d1 has been classified as Red List (Low Evidence).
Incidentalome v0.81 CACNA2D1 Zornitza Stark Tag disputed tag was added to gene: CACNA2D1.
Incidentalome v0.81 CACNA2D1 Zornitza Stark Mode of inheritance for gene: CACNA2D1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4195 THG1L Zornitza Stark Marked gene: THG1L as ready
Intellectual disability syndromic and non-syndromic v0.4195 THG1L Zornitza Stark Gene: thg1l has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Marked gene: U2AF2 as ready
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Added comment: Comment when marking as ready: Note de novo variants in this gene were found to be enriched in the DDD study, however phenotypic information on the patients not presented.
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Gene: u2af2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Marked gene: U2AF2 as ready
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Gene: u2af2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Classified gene: U2AF2 as Red List (low evidence)
Genetic Epilepsy v0.1297 U2AF2 Zornitza Stark Gene: u2af2 has been classified as Red List (Low Evidence).
Mendeliome v0.9355 SLC4A3 Daniel Flanagan gene: SLC4A3 was added
gene: SLC4A3 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SLC4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC4A3 were set to PMID: 29167417; 34557911
Phenotypes for gene: SLC4A3 were set to Short QT syndrome
Review for gene: SLC4A3 was set to AMBER
Added comment: Moderate evidence for autosomal dominant short QT syndrome 1 by ClinGen /gene curation expert panel (PMID: 34557911). A single missense variant (absent gnomAD) identified in two SQTS families. In family 1, it segregated with SQTS (QTc<370ms) in 23 carriers, and 19 non-carriers had a QTc>370ms. In family 2, it segregated in 4 individuals. Experimental evidence from in vitro and zebrafish models suggests reduced membrane localization of the mutated protein leads to intracellular alkalinization and shortening of the cardiomyocyte action potential duration.
ClinGen expert panel was divided between strong (4 votes) and moderate (5 votes).
Sources: Expert Review
Incidentalome v0.80 CACNA2D1 Zornitza Stark Classified gene: CACNA2D1 as Red List (low evidence)
Incidentalome v0.80 CACNA2D1 Zornitza Stark Gene: cacna2d1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1296 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Genetic Epilepsy v0.1296 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4195 THG1L Zornitza Stark Classified gene: THG1L as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4195 THG1L Zornitza Stark Gene: thg1l has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1296 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Genetic Epilepsy v0.1296 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1296 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6 MIM#611523
Catecholaminergic Polymorphic Ventricular Tachycardia v0.28 CASQ2 Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1295 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Catecholaminergic Polymorphic Ventricular Tachycardia v0.27 TRDN Zornitza Stark Mode of inheritance for gene: TRDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1294 RARS2 Zornitza Stark Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.79 CACNA2D1 Daniel Flanagan reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.12 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Short QT syndrome v0.12 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Red List (Low Evidence).
Short QT syndrome v0.12 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Short QT syndrome v0.12 SCN5A Zornitza Stark Gene: scn5a has been classified as Red List (Low Evidence).
Short QT syndrome v0.12 KCNJ2 Zornitza Stark Publications for gene: KCNJ2 were set to
Short QT syndrome v0.12 CACNA1C Zornitza Stark Classified gene: CACNA1C as Red List (low evidence)
Short QT syndrome v0.12 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Red List (Low Evidence).
Short QT syndrome v0.11 CACNA1C Zornitza Stark Tag disputed tag was added to gene: CACNA1C.
Short QT syndrome v0.11 CACNA2D1 Zornitza Stark Marked gene: CACNA2D1 as ready
Short QT syndrome v0.11 CACNA2D1 Zornitza Stark Gene: cacna2d1 has been classified as Red List (Low Evidence).
Short QT syndrome v0.11 CACNA2D1 Zornitza Stark Tag disputed tag was added to gene: CACNA2D1.
Short QT syndrome v0.11 SCN5A Zornitza Stark Classified gene: SCN5A as Red List (low evidence)
Short QT syndrome v0.11 SCN5A Zornitza Stark Gene: scn5a has been classified as Red List (Low Evidence).
Short QT syndrome v0.10 SCN5A Zornitza Stark Tag disputed tag was added to gene: SCN5A.
Short QT syndrome v0.10 CACNA2D1 Zornitza Stark Classified gene: CACNA2D1 as Red List (low evidence)
Short QT syndrome v0.10 CACNA2D1 Zornitza Stark Gene: cacna2d1 has been classified as Red List (Low Evidence).
Short QT syndrome v0.9 CACNB2 Zornitza Stark Marked gene: CACNB2 as ready
Short QT syndrome v0.9 CACNB2 Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence).
Short QT syndrome v0.9 CACNB2 Zornitza Stark Classified gene: CACNB2 as Red List (low evidence)
Short QT syndrome v0.9 CACNB2 Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence).
Short QT syndrome v0.8 CACNB2 Zornitza Stark Tag disputed tag was added to gene: CACNB2.
Genetic Epilepsy v0.1293 SLC22A5 Zornitza Stark Classified gene: SLC22A5 as Red List (low evidence)
Genetic Epilepsy v0.1293 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Short QT syndrome v0.8 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Short QT syndrome v0.8 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Short QT syndrome v0.8 SLC22A5 Zornitza Stark Classified gene: SLC22A5 as Red List (low evidence)
Short QT syndrome v0.8 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Short QT syndrome v0.7 SLC22A5 Zornitza Stark Tag disputed tag was added to gene: SLC22A5.
Genetic Epilepsy v0.1292 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Genetic Epilepsy v0.1292 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Short QT syndrome v0.7 SLC4A3 Zornitza Stark Marked gene: SLC4A3 as ready
Short QT syndrome v0.7 SLC4A3 Zornitza Stark Gene: slc4a3 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v0.7 SLC4A3 Zornitza Stark Classified gene: SLC4A3 as Amber List (moderate evidence)
Short QT syndrome v0.7 SLC4A3 Zornitza Stark Gene: slc4a3 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v0.6 SLC4A3 Zornitza Stark reviewed gene: SLC4A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Short QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.6 KCNH2 Zornitza Stark Publications for gene: KCNH2 were set to 34557911
Short QT syndrome v0.6 KCNQ1 Zornitza Stark Publications for gene: KCNQ1 were set to 34557911
Genetic Epilepsy v0.1292 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13, MIM# 614932
Short QT syndrome v0.6 KCNJ2 Zornitza Stark Mode of pathogenicity for gene: KCNJ2 was changed from to Other
Short QT syndrome v0.5 KCNJ2 Zornitza Stark Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4194 THG1L Krithika Murali gene: THG1L was added
gene: THG1L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THG1L were set to 33682303
Phenotypes for gene: THG1L were set to Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy; Intellectual Disability
Review for gene: THG1L was set to AMBER
Added comment: 3 individuals from 2 unrelated families of Ashkenazi Jewish descent with compound heterozygous variants ( p.Cys51Trp and p.Val55Ala) presented with profound developmental delays, microcephaly, intractable epilepsy, and cerebellar hypoplasia.

Homozygous variants associated with ataxia phenotype.
Sources: Literature
Short QT syndrome v0.4 KCNH2 Zornitza Stark Publications for gene: KCNH2 were set to
Short QT syndrome v0.4 KCNQ1 Zornitza Stark Publications for gene: KCNQ1 were set to
Genetic Epilepsy v0.1291 PNPT1 Zornitza Stark Classified gene: PNPT1 as Green List (high evidence)
Genetic Epilepsy v0.1291 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1290 SLC22A5 Belinda Chong gene: SLC22A5 was added
gene: SLC22A5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to PMID: 33005244
Phenotypes for gene: SLC22A5 were set to Intractable epilepsy
Review for gene: SLC22A5 was set to RED
Added comment: Two sisters with intractable epilepsy and reversible metabolic cardiomyopathy. Potential mutations in the SLC22A5 gene were investigated within the family, and a nonsense mutation [c.760C>T (p.R254X)] was identified in four family members. The two sisters harboured homozygous mutations, whereas their parents presented heterozygous mutations.

Metabolic disease screening revealed low plasma free carnitine levels (<5 µmol/l) in the two sisters. The plasma free carnitine levels of their parents were normal, and they were asymptomatic. PCD in the two patients was managed using oral levocarnitine.
Sources: Literature
Genetic Epilepsy v0.1290 PNPT1 Zornitza Stark reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM# 614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v0.3 KCNH2 Zornitza Stark Mode of pathogenicity for gene: KCNH2 was changed from to Other
Short QT syndrome v0.3 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 KCNH2 Zornitza Stark Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1290 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Genetic Epilepsy v0.1290 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1290 PHF6 Zornitza Stark Classified gene: PHF6 as Green List (high evidence)
Genetic Epilepsy v0.1290 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1289 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Genetic Epilepsy v0.1289 PGM3 Zornitza Stark Gene: pgm3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1289 PGM3 Zornitza Stark Classified gene: PGM3 as Amber List (moderate evidence)
Genetic Epilepsy v0.1289 PGM3 Zornitza Stark Gene: pgm3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1288 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1288 TARS2 Zornitza Stark Marked gene: TARS2 as ready
Genetic Epilepsy v0.1288 TARS2 Zornitza Stark Gene: tars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1288 TARS2 Zornitza Stark Classified gene: TARS2 as Green List (high evidence)
Genetic Epilepsy v0.1288 TARS2 Zornitza Stark Gene: tars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1287 TBX19 Zornitza Stark Marked gene: TBX19 as ready
Genetic Epilepsy v0.1287 TBX19 Zornitza Stark Gene: tbx19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1287 TBX19 Zornitza Stark Classified gene: TBX19 as Green List (high evidence)
Genetic Epilepsy v0.1287 TBX19 Zornitza Stark Gene: tbx19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1286 THG1L Zornitza Stark Marked gene: THG1L as ready
Genetic Epilepsy v0.1286 THG1L Zornitza Stark Gene: thg1l has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1286 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Genetic Epilepsy v0.1286 TRAPPC12 Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families with consistent phenotype including microcephaly and seizures.
Genetic Epilepsy v0.1286 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1286 THG1L Zornitza Stark Phenotypes for gene: THG1L were changed from Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy to Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy; Intellectual disability
Genetic Epilepsy v0.1285 THG1L Zornitza Stark Classified gene: THG1L as Amber List (moderate evidence)
Genetic Epilepsy v0.1285 THG1L Zornitza Stark Gene: thg1l has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1284 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Genetic Epilepsy v0.1284 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1283 TRPC3 Zornitza Stark Marked gene: TRPC3 as ready
Genetic Epilepsy v0.1283 TRPC3 Zornitza Stark Gene: trpc3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1283 TRPC3 Zornitza Stark Classified gene: TRPC3 as Red List (low evidence)
Genetic Epilepsy v0.1283 TRPC3 Zornitza Stark Gene: trpc3 has been classified as Red List (Low Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 CASQ2 Daniel Flanagan reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 TRDN Daniel Flanagan reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Triadin knockout syndrome, CPVT, atypical LQTS phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.1282 RARS2 Ain Roesley reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536827; Phenotypes: Pontocerebellar hypoplasia, type 6 MIM#611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1282 COLGALT1 Zornitza Stark Marked gene: COLGALT1 as ready
Genetic Epilepsy v0.1282 COLGALT1 Zornitza Stark Gene: colgalt1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1282 COLGALT1 Zornitza Stark Classified gene: COLGALT1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1282 COLGALT1 Zornitza Stark Gene: colgalt1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1281 COLGALT1 Zornitza Stark gene: COLGALT1 was added
gene: COLGALT1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLGALT1 were set to 30412317; 33709034; 31759980
Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3 MIM#618360
Review for gene: COLGALT1 was set to AMBER
Added comment: 3 unrelated families with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy, lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. A null mouse model was embryonic lethal, but had defects in the vascular networks of the embryos.

Refractory seizures part of the presenting phenotype in one family.
Sources: Expert Review
Short QT syndrome v0.1 SCN5A Daniel Flanagan gene: SCN5A was added
gene: SCN5A was added to Short QT syndrome. Sources: Expert Review
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN5A were set to PMID: 34557911
Phenotypes for gene: SCN5A were set to Short QT syndrome
Review for gene: SCN5A was set to RED
Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case with a rare SCN5A variant, however, the expert panel regarded this phenotype as being concordant with Brugada syndrome and not SQTS.
Sources: Expert Review
Short QT syndrome v0.1 CACNA1C Daniel Flanagan gene: CACNA1C was added
gene: CACNA1C was added to Short QT syndrome. Sources: Expert Review
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1C were set to PMID: 34557911
Phenotypes for gene: CACNA1C were set to Short QT syndrome
Review for gene: CACNA1C was set to RED
Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. 5 probands with suggested SQTS phenotype, 3 had Brugada syndrome with a relatively short QT interval, 1 had HCM without a convincing SQTS phenotype, and the 5th had a reported de novo variant that was too frequent in gnomAD to be associated with SQTS.
Sources: Expert Review
Short QT syndrome v0.1 CACNA2D1 Daniel Flanagan gene: CACNA2D1 was added
gene: CACNA2D1 was added to Short QT syndrome. Sources: Expert Review
Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA2D1 were set to PMID: 34557911
Phenotypes for gene: CACNA2D1 were set to Short QT syndrome
Review for gene: CACNA2D1 was set to RED
Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case with cardiac arrest and a short QT interval, variant did not segregate with SQTS and it was present at >1% in the Ashkenazi Jewish population.
Sources: Expert Review
Short QT syndrome v0.1 CACNB2 Daniel Flanagan gene: CACNB2 was added
gene: CACNB2 was added to Short QT syndrome. Sources: Expert Review
Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB2 were set to PMID: 34557911
Phenotypes for gene: CACNB2 were set to Short QT syndrome 1
Review for gene: CACNB2 was set to RED
Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case in which the expert panel concluded the phenotype was Brugada syndrome and not SQTS.
Sources: Expert Review
Short QT syndrome v0.1 SLC22A5 Daniel Flanagan gene: SLC22A5 was added
gene: SLC22A5 was added to Short QT syndrome. Sources: Expert Review
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to PMID: 34557911
Phenotypes for gene: SLC22A5 were set to Short QT syndrome
Review for gene: SLC22A5 was set to RED
Added comment: SLC22A5 association with short QT syndrome is disputed by the ClinGen expert panel / PMID: 34557911. Variants in SLC22A5 cause AR primary systemic carnitine deficiency (PSCD). Short QC has been demonstrated in a carnitine-deficient mouse model as well as in patients with PSCD. However, the QT interval in these patients returns to normal with carnitine supplementation treatment, so true SQTS and SLC22A5 is disputed.
Sources: Expert Review
Genetic Epilepsy v0.1280 CLPB Zornitza Stark Marked gene: CLPB as ready
Genetic Epilepsy v0.1280 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1280 CLPB Zornitza Stark Classified gene: CLPB as Green List (high evidence)
Genetic Epilepsy v0.1280 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1279 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CLPB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLPB were set to 25597510; 34140661
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Review for gene: CLPB was set to GREEN
Added comment: Bi-allelic variants: 3-Methylglutaconic aciduria (MGCA7) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections. More than 10 unrelated families reported.

Mono-allelic variants: six unrelated individuals reported with de novo variants and neutropaenia, epilepsy, developmental issues, and 3-methylglutaconic aciduria.
Sources: Expert Review
Short QT syndrome v0.1 SLC4A3 Daniel Flanagan gene: SLC4A3 was added
gene: SLC4A3 was added to Short QT syndrome. Sources: Expert Review
Mode of inheritance for gene: SLC4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC4A3 were set to PMID: 29167417; 34557911
Phenotypes for gene: SLC4A3 were set to Short QT syndrome
Review for gene: SLC4A3 was set to GREEN
Added comment: Moderate evidence for autosomal dominant short QT syndrome 1 by ClinGen /gene curation expert panel (PMID: 34557911). A single missense variant (absent gnomAD) identified in two SQTS families. In family 1, it segregated with SQTS (QTc<370ms) in 23 carriers, and 19 non-carriers had a QTc>370ms. In family 2, it segregated in 4 individuals. Experimental evidence from in vitro and zebrafish models suggests reduced membrane localization of the mutated protein leads to intracellular alkalinization and shortening of the cardiomyocyte action potential duration.
ClinGen expert panel was divided between strong (4 votes) and moderate (5 votes).
Sources: Expert Review
Genetic Epilepsy v0.1278 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Genetic Epilepsy v0.1278 CLN6 Zornitza Stark Gene: cln6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1278 CLN6 Zornitza Stark Classified gene: CLN6 as Green List (high evidence)
Genetic Epilepsy v0.1278 CLN6 Zornitza Stark Gene: cln6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1277 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN6 were set to 11791207; 11727201; 21549341; 33798445; 33024953
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Review for gene: CLN6 was set to GREEN
Added comment: Well established gene-disease association, seizures are part of the phenotype.
Sources: Expert Review
Short QT syndrome v0.1 KCNJ2 Daniel Flanagan reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34557911; Phenotypes: Short QT syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v0.1276 PNPT1 Ain Roesley gene: PNPT1 was added
gene: PNPT1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPT1 were set to 33158637; 31752325
Penetrance for gene: PNPT1 were set to unknown
Review for gene: PNPT1 was set to GREEN
Added comment: PMID:33158637
1x homozygous (c.1399C > T, p.Pro467Ser) in an individual who presented with a phenotype similar to Aicardi-Goutieres Syndrome. She presented with feeding difficulties and vomiting, muscle weakness, and hyperexcitability, accompanied by a sterile febrile episode. Later developed refractory focal impaired awareness and pharmaco-refractory generalized seizures.

PMID: 31752325
7 presented with seizures (out of 21 for whom clinical info was available)
Sources: Literature
Short QT syndrome v0.1 KCNQ1 Daniel Flanagan changed review comment from: Strong evidence for autosomal dominant short QT syndrome by ClinGen and gene curation expert panel (PMID: 34557911). 9 SQTS probands reported, eight of which had the p.(Val141Met) variant. All 9 probands presented with severe bradycardia in-utero or at birth and in 6 atrial fibrillation. Reviewed as strong because most of the evidence is related to a single variant.; to: Strong evidence for autosomal dominant short QT syndrome by ClinGen and gene curation expert panel (PMID: 34557911). 9 SQTS probands reported, eight of which had the p.(Val141Met) variant. All 9 probands presented with severe bradycardia in-utero or at birth and in 6 atrial fibrillation. Reviewed as strong because most of the evidence is related to a single variant.
Gain of function mechanism reported.
Short QT syndrome v0.1 KCNQ1 Daniel Flanagan reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34557911; Phenotypes: Short QT syndrome 1, bradycardia, atrial fibrillation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v0.1 KCNH2 Daniel Flanagan reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34557911; Phenotypes: Short QT syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v0.1276 PHF6 Ain Roesley gene: PHF6 was added
gene: PHF6 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHF6 were set to 32399860
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome MIM#301900
Penetrance for gene: PHF6 were set to unknown
Review for gene: PHF6 was set to GREEN
Added comment: Epilepsy is part of the phenotypic spectrum for Borjeson-Forssman-Lehmann syndrome (OMIM). At least 18 mutations known to date.
Sources: Literature
Genetic Epilepsy v0.1276 PGM3 Ain Roesley gene: PGM3 was added
gene: PGM3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PGM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PGM3 were set to 33193641
Phenotypes for gene: PGM3 were set to Idiopathic focal epilepsy
Penetrance for gene: PGM3 were set to Incomplete
Review for gene: PGM3 was set to AMBER
Added comment: 4x unrelated families including 2x de novo +2x inherited from unaffected parents. Hence reduced penetrance suggested
3x missense, 1x protein truncating
both missense variants inherited from unaffected parents classified as VUS by ACMG guidelines

no functional studies done
Sources: Literature
Genetic Epilepsy v0.1276 TARS2 Krithika Murali gene: TARS2 was added
gene: TARS2 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS2 were set to 33153448; 24827421; 34508595
Phenotypes for gene: TARS2 were set to Combined oxidative phosphorylation deficiency 21 - 615918; Epilepsy
Review for gene: TARS2 was set to GREEN
Added comment: 8 cases from 7 unrelated families are reported in the literature with early-onset mitochondrial encephalomyopathy and a broad phenotypic spectrum that includes epilepsy.
Sources: Expert list, Literature
Genetic Epilepsy v0.1276 TBX19 Krithika Murali gene: TBX19 was added
gene: TBX19 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX19 were set to 31998673
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency - 201400
Review for gene: TBX19 was set to GREEN
Added comment: Well-established gene-disease association with congenital isolated ACTH deficiency. Affected individuals can present with seizures in conjunction with hypoglycaemia and cholestasis.

Although this gene is not associated with primary epilepsy and is a primary pituitary disorder, early detection and prompt institution of glucocorticoid treatment is vital to lower the risk of recurrent hypoglycemia and uncontrolled epilepsy. As patients can present with seizures, inclusion in this panel may aid timely diagnosis of this rare but treatable disorder.
Sources: Expert list, Literature
Genetic Epilepsy v0.1276 THG1L Krithika Murali gene: THG1L was added
gene: THG1L was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THG1L were set to 33682303
Phenotypes for gene: THG1L were set to Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy
Review for gene: THG1L was set to AMBER
Added comment: 3 individuals from 2 unrelated families of Ashkenazi Jewish descent with compound heterozygous variants ( p.Cys51Trp and p.Val55Ala) presented with profound developmental delays, microcephaly, intractable epilepsy, and cerebellar hypoplasia.
Sources: Expert list, Literature
Genetic Epilepsy v0.1276 TRAPPC12 Krithika Murali reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777934, 32369837; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity - 617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1276 TRPC3 Krithika Murali gene: TRPC3 was added
gene: TRPC3 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPC3 were set to 32135163; 25477146
Phenotypes for gene: TRPC3 were set to ?Spinocerebellar ataxia 41 - 616410
Review for gene: TRPC3 was set to RED
Added comment: Postulated association with adult-onset cerebellar ataxia based on one case with potentially pathogenic variant (Fogel et al Mov Disorder 2015)

Liang et al 2020 Neurosci Letter observed elevated TRPC3 protein expression in focal cortical dysplasia tissue specimens compared with controls.

No formal gene-disease association with epilepsy has been reported.
Sources: Expert list, Literature
Genetic Epilepsy v0.1276 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Genetic Epilepsy v0.1276 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1276 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Amber List (moderate evidence)
Genetic Epilepsy v0.1276 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1275 MAPK8IP3 Elena Savva gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to PMID: 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities MIM#618443
Review for gene: MAPK8IP3 was set to AMBER
Added comment: 5/13 patients had generalized seizures, but for 3/13 it was a single event, 1/13 it was recurrent. All individuals had missense variants.
Sources: Literature
Genetic Epilepsy v0.1275 TSPYL1 Zornitza Stark Marked gene: TSPYL1 as ready
Genetic Epilepsy v0.1275 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1275 TSPYL1 Zornitza Stark Classified gene: TSPYL1 as Green List (high evidence)
Genetic Epilepsy v0.1275 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.95 USP48 Zornitza Stark Marked gene: USP48 as ready
Deafness_IsolatedAndComplex v1.95 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.95 USP48 Zornitza Stark Classified gene: USP48 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.95 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.94 USP48 Zornitza Stark gene: USP48 was added
gene: USP48 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: USP48 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP48 were set to 34059922
Phenotypes for gene: USP48 were set to Nonsyndromic genetic deafness, MONDO:0019497
Review for gene: USP48 was set to GREEN
Added comment: PMID: 34059922 - Bassani et al 2021 - 3 cases reported with variants in USP48 and non syndromic hearing loss. They first analysed 4-generation Italian family with 6 individuals with hearing loss. The only rare variant segregating with the disease was a missense variant in USP48 (NM_032234.7:c.1216G > A, NP_115612.4:p.(Gly406Arg)). The variant is present in GnomAD v2.1.1 with a minor allele frequency (MAF) of 6.7 × 10−5 (17 allele out of 251 304 with no homozygotes). They also observed one hearing individual in the family who was heterozygous for the variant, suggesting incomplete penetrance.
In a Dutch family the found by exome sequencing a missense variant in USP48 (NM_032236.7:c.2215_2216delinsTT, NP_115612.4:p.(Thr739Leu)). The probands mother and uncle were also affected by no sequence data was available for analysis.
In a French family a proband is reported with right profound sensorineural hearing impairment (at 12 months), but normal left hearing (at 6 years old). The patient is heterozygote for a de novo splice variant in USP48 (NM_032236.7:c.3058 + 2 T > C, NP_115612.4:p.?;) which is not found in GnomAD and is predicted to result in a frameshift resulting in either NMD or a truncated protein.
In functional experiments they showed that the two missense variants found in the Italian and Dutch families, and a shortened protein as predicted for the variant found in the French variant, showed an impaired ability to cleave tetra-ubiquitin into tri-, di- and mono-ubiquitin. Using immunohistology, they show that the human USP48 protein is present in fetal inner ear specimens.
In addition zebrafish lacking usp48 showed a significant decrease of auditory response in acoustic startle response assays at 600 and 800 Hz wavelengths.

Overall, borderline Green: one of the variants is present at a high frequency in the normal population. However, even if just two families are considered, supportive functional data including zebrafish model.
Sources: Literature
Deafness_Isolated v1.15 USP48 Zornitza Stark Marked gene: USP48 as ready
Deafness_Isolated v1.15 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Deafness_Isolated v1.15 USP48 Zornitza Stark Classified gene: USP48 as Green List (high evidence)
Deafness_Isolated v1.15 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Deafness_Isolated v1.14 USP48 Zornitza Stark gene: USP48 was added
gene: USP48 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: USP48 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP48 were set to 34059922
Phenotypes for gene: USP48 were set to Nonsyndromic genetic deafness, MONDO:0019497
Review for gene: USP48 was set to GREEN
Added comment: PMID: 34059922 - Bassani et al 2021 - 3 cases reported with variants in USP48 and non syndromic hearing loss. They first analysed 4-generation Italian family with 6 individuals with hearing loss. The only rare variant segregating with the disease was a missense variant in USP48 (NM_032234.7:c.1216G > A, NP_115612.4:p.(Gly406Arg)). The variant is present in GnomAD v2.1.1 with a minor allele frequency (MAF) of 6.7 × 10−5 (17 allele out of 251 304 with no homozygotes). They also observed one hearing individual in the family who was heterozygous for the variant, suggesting incomplete penetrance.
In a Dutch family the found by exome sequencing a missense variant in USP48 (NM_032236.7:c.2215_2216delinsTT, NP_115612.4:p.(Thr739Leu)). The probands mother and uncle were also affected by no sequence data was available for analysis.
In a French family a proband is reported with right profound sensorineural hearing impairment (at 12 months), but normal left hearing (at 6 years old). The patient is heterozygote for a de novo splice variant in USP48 (NM_032236.7:c.3058 + 2 T > C, NP_115612.4:p.?;) which is not found in GnomAD and is predicted to result in a frameshift resulting in either NMD or a truncated protein.
In functional experiments they showed that the two missense variants found in the Italian and Dutch families, and a shortened protein as predicted for the variant found in the French variant, showed an impaired ability to cleave tetra-ubiquitin into tri-, di- and mono-ubiquitin. Using immunohistology, they show that the human USP48 protein is present in fetal inner ear specimens.
In addition zebrafish lacking usp48 showed a significant decrease of auditory response in acoustic startle response assays at 600 and 800 Hz wavelengths.

Overall, borderline Green: one of the variants is present at a high frequency in the normal population. However, even if just two families are considered, supportive functional data including zebrafish model.
Sources: Literature
Mendeliome v0.9355 USP48 Zornitza Stark Marked gene: USP48 as ready
Mendeliome v0.9355 USP48 Zornitza Stark Added comment: Comment when marking as ready: Borderline Green: one of the variants is present at a high frequency in the normal population. However, even if just two families are considered, supportive functional data including zebrafish model.
Mendeliome v0.9355 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Mendeliome v0.9355 USP48 Zornitza Stark Classified gene: USP48 as Green List (high evidence)
Mendeliome v0.9355 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 MARS Zornitza Stark Marked gene: MARS as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 MARS Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is MARS1.
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 MARS Zornitza Stark Gene: mars has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 MARS Zornitza Stark Tag new gene name tag was added to gene: MARS.
Mendeliome v0.9354 MARS Zornitza Stark Marked gene: MARS as ready
Mendeliome v0.9354 MARS Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved gene name is MARS1.
Mendeliome v0.9354 MARS Zornitza Stark Gene: mars has been classified as Green List (High Evidence).
Mendeliome v0.9354 MARS Zornitza Stark Tag new gene name tag was added to gene: MARS.
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Marked gene: MARS as ready
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is MARS1.
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Gene: mars has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Tag new gene name tag was added to gene: MARS.
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Marked gene: MARS as ready
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Gene: mars has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark gene: MARS was added
gene: MARS was added to Chromosome Breakage Disorders. Sources: Literature
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS were set to 33909043
Phenotypes for gene: MARS were set to Trichothiodystrophy, MONDO:0018053
Review for gene: MARS was set to RED
Added comment: Bi-allelic ariants in this gene are associated with interstitial and liver disease.

PMID: 33909043 - Botta et al 2021 - using WES/WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified a homozygous variant in one Italian patient (c.1201G > A (p.Val401Me) that is very rare (gnomAD frequency 0.00001414). Functional studies suggest that the variant affects gene product stability.

Although chromosome breakage is unlikely to be the underlying mechanism, included in this panel for completeness with a Red rating (one individual reported).
Sources: Literature
Mendeliome v0.9354 MARS Zornitza Stark Marked gene: MARS as ready
Mendeliome v0.9354 MARS Zornitza Stark Gene: mars has been classified as Green List (High Evidence).
Mendeliome v0.9354 MARS Zornitza Stark Phenotypes for gene: MARS were changed from to Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy, MONDO:0018053
Mendeliome v0.9353 MARS Zornitza Stark Publications for gene: MARS were set to
Mendeliome v0.9352 MARS Zornitza Stark Mode of inheritance for gene: MARS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9351 MARS Zornitza Stark changed review comment from: Association with CMT: Two families reported. One mutation positive family member was asymptomatic. Second case is proband only testing with no segregation or functional data. Note one of the variants identified in dominant MARS1-associated neuropathy, p.Arg618Cys, has also been reported in AR MARS1-related pulmonary interstiatial/liver disease.; to: Association with CMT and mono-allelic variants: Two families reported. One mutation positive family member was asymptomatic. Second case is proband only testing with no segregation or functional data. Note one of the variants identified in dominant MARS1-associated neuropathy, p.Arg618Cys, has also been reported in AR MARS1-related pulmonary interstiatial/liver disease.
Mendeliome v0.9351 MARS Zornitza Stark changed review comment from: Association with interstitial lung and liver disease: More than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis.

Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis.; to: Association with interstitial lung and liver disease and bi-allelic variants: More than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis.

Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis.
Mendeliome v0.9351 MARS Zornitza Stark changed review comment from: Two families reported. One mutation positive family member was asymptomatic. Second case is proband only testing with no segregation or functional data. Note one of the variants identified in dominant MARS1-associated neuropathy, p.Arg618Cys, has also been reported in AR MARS1-related pulmonary interstiatial/liver disease.; to: Association with CMT: Two families reported. One mutation positive family member was asymptomatic. Second case is proband only testing with no segregation or functional data. Note one of the variants identified in dominant MARS1-associated neuropathy, p.Arg618Cys, has also been reported in AR MARS1-related pulmonary interstiatial/liver disease.
Mendeliome v0.9351 MARS Zornitza Stark edited their review of gene: MARS: Added comment: Association with interstitial lung and liver disease: More than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis.

Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis.; Changed rating: GREEN; Changed publications: 23729695, 24354524, 29655802, 24103465, 25913036; Changed phenotypes: Interstitial lung and liver disease, MIM#615486, Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1274 TSPYL1 Krithika Murali gene: TSPYL1 was added
gene: TSPYL1 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPYL1 were set to 32885560; 15273283; 33075815
Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome - 608800; sudden infant death-dysgenesis of the testes syndrome MONDO:0012124
Review for gene: TSPYL1 was set to GREEN
Added comment: First identified in a large Amish family - lethal disease characterized by sudden infant death from cardiorespiratory arrest with dysgenesis of the testes (Puffenberger et al 2004). Cases in non-Amish families reported with additional phenotypic features noted including epilepsy (Slater et al 2020 and Buyse et al 2020)
Sources: Expert list, Literature
Chromosome Breakage Disorders v1.7 AARS Zornitza Stark Marked gene: AARS as ready
Chromosome Breakage Disorders v1.7 AARS Zornitza Stark Gene: aars has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v1.7 AARS Zornitza Stark Classified gene: AARS as Amber List (moderate evidence)
Chromosome Breakage Disorders v1.7 AARS Zornitza Stark Gene: aars has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v1.6 AARS Zornitza Stark gene: AARS was added
gene: AARS was added to Chromosome Breakage Disorders. Sources: Literature
Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS were set to 33909043
Phenotypes for gene: AARS were set to Trichothiodystrophy, MONDO:0018053
Review for gene: AARS was set to AMBER
Added comment: PMID: 33909043 - Botta et al 2021 - using WES or WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified 2 unrelated cases carrying 4 potentially pathogenic variants in the AARS1 gene (previously known as AARSB). Both patients had very rare compound heterozygous missense variants. In one family there was an older affected sibling but segregation data was not available for either family. Functional studies suggest that the variants affects gene product stability.

Amber rating as 2 families only, and uncertain of underlying mechanism (unlikely chromosome breakage, gene is associated with other disease entities) but included due to phenotypic overlap.
Sources: Literature
Mendeliome v0.9351 AARS Zornitza Stark Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; trichothiodystrophy, MONDO:0018053
Mendeliome v0.9350 AARS Zornitza Stark Publications for gene: AARS were set to 28493438; 25817015; 20045102; 22009580; 22206013; 30373780; 26032230
Intellectual disability syndromic and non-syndromic v0.4194 CELF2 Zornitza Stark Phenotypes for gene: CELF2 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 97, MIM#619561
Genetic Epilepsy v0.1274 CELF2 Zornitza Stark Phenotypes for gene: CELF2 were changed from Developmental and epileptic encephalopathy 97, MIM#619561 to Developmental and epileptic encephalopathy 97, MIM#619561
Intellectual disability syndromic and non-syndromic v0.4193 CELF2 Zornitza Stark edited their review of gene: CELF2: Changed phenotypes: Developmental and epileptic encephalopathy 97, MIM#619561
Genetic Epilepsy v0.1274 CELF2 Zornitza Stark Phenotypes for gene: CELF2 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 97, MIM#619561
Genetic Epilepsy v0.1273 CELF2 Zornitza Stark edited their review of gene: CELF2: Changed phenotypes: Developmental and epileptic encephalopathy 97, MIM#619561
Mendeliome v0.9349 CELF2 Zornitza Stark Phenotypes for gene: CELF2 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 97, MIM#619561
Mendeliome v0.9348 CELF2 Zornitza Stark edited their review of gene: CELF2: Changed phenotypes: Developmental and epileptic encephalopathy 97, MIM#619561
Defects of intrinsic and innate immunity v0.81 SPPL2A Zornitza Stark Phenotypes for gene: SPPL2A were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency 86, MIM#619549; Susceptibility to mycobacteria and Salmonella
Defects of intrinsic and innate immunity v0.80 SPPL2A Zornitza Stark edited their review of gene: SPPL2A: Changed phenotypes: Immunodeficiency 86, MIM#619549, Susceptibility to mycobacteria and Salmonella
Mendeliome v0.9348 SPPL2A Zornitza Stark Phenotypes for gene: SPPL2A were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency 86, MIM#619549; Susceptibility to mycobacteria and Salmonella
Mendeliome v0.9347 SPPL2A Zornitza Stark edited their review of gene: SPPL2A: Changed phenotypes: Immunodeficiency 86, MIM#619549, Susceptibility to mycobacteria and Salmonella
Mendeliome v0.9347 USP48 Eleanor Williams gene: USP48 was added
gene: USP48 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: USP48 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: USP48 were set to 34059922
Phenotypes for gene: USP48 were set to non-syndromic hearing loss; nonsyndromic genetic deafness, MONDO:0019497
Penetrance for gene: USP48 were set to Incomplete
Review for gene: USP48 was set to GREEN
Added comment: PMID: 34059922 - Bassani et al 2021 - 3 cases reported with variants in USP48 and non syndromic hearing loss. They first analysed 4-generation Italian family with 6 individuals with hearing loss. The only rare variant segregating with the disease was a missense variant in USP48 (NM_032234.7:c.1216G > A, NP_115612.4:p.(Gly406Arg)). The variant is present in GnomAD v2.1.1 with a minor allele frequency (MAF) of 6.7 × 10−5 (17 allele out of 251 304 with no homozygotes). They also observed one hearing individual in the family who was heterozygous for the variant, suggesting incomplete penetrance.
In a Dutch family the found by exome sequencing a missense variant in USP48 (NM_032236.7:c.2215_2216delinsTT, NP_115612.4:p.(Thr739Leu)). The probands mother and uncle were also affected by no sequence data was available for analysis.
In a French family a proband is reported with right profound sensorineural hearing impairment (at 12 months), but normal left hearing (at 6 years old). The patient is heterozygote for a de novo splice variant in USP48 (NM_032236.7:c.3058 + 2 T > C, NP_115612.4:p.?;) which is not found in GnomAD and is predicted to result in a frameshift resulting in either NMD or a truncated protein.
In functional experiments they showed that the two missense variants found in the Italian and Dutch families, and a shortened protein as predicted for the variant found in the French variant, showed an impaired ability to cleave tetra-ubiquitin into tri-, di- and mono-ubiquitin. Using immunohistology, they show that the human USP48 protein is present in fetal inner ear specimens.
In addition zebrafish lacking usp48 showed a significant decrease of auditory response in acoustic startle response assays at 600 and 800 Hz wavelengths.
Sources: Literature
Mendeliome v0.9347 MARS Eleanor Williams reviewed gene: MARS: Rating: ; Mode of pathogenicity: None; Publications: 33909043; Phenotypes: trichothiodystrophy, MONDO:0018053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9347 AARS Eleanor Williams changed review comment from: PMID: 33909043 - Botta et al 2021 - using WES or WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified 2 unrelated cases carrying 4 potentially pathogenic variants in the AARS1 gene (previously known as AARSB. Both patients had very rare compound heterozygous missense variants. In one family there was an older affected sibling but segregation data was not available for either family.; to: PMID: 33909043 - Botta et al 2021 - using WES or WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified 2 unrelated cases carrying 4 potentially pathogenic variants in the AARS1 gene (previously known as AARSB. Both patients had very rare compound heterozygous missense variants. In one family there was an older affected sibling but segregation data was not available for either family. Functional studies suggest that the variants affects gene product stability.
Mendeliome v0.9347 AARS Eleanor Williams reviewed gene: AARS: Rating: ; Mode of pathogenicity: None; Publications: 33909043; Phenotypes: trichothiodystrophy, MONDO:0018053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1273 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Genetic Epilepsy v0.1273 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1273 CLN5 Zornitza Stark Classified gene: CLN5 as Green List (high evidence)
Genetic Epilepsy v0.1273 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1272 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN5 were set to 32983231; 15728307; 20157158
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731
Review for gene: CLN5 was set to GREEN
Added comment: Well established gene-disease association, initial presentation with seizures reported.
Sources: Expert Review
Cerebral Palsy v1.16 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Cerebral Palsy v1.16 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Cerebral Palsy v1.16 WDR45 Zornitza Stark Publications for gene: WDR45 were set to PMID: 33528536, 34364746
Additional findings_Paediatric v0.257 AIP Zornitza Stark reviewed gene: AIP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9347 AIP Zornitza Stark Marked gene: AIP as ready
Mendeliome v0.9347 AIP Zornitza Stark Gene: aip has been classified as Green List (High Evidence).
Mendeliome v0.9347 AIP Zornitza Stark Phenotypes for gene: AIP were changed from to Pituitary adenoma predisposition MIM#102200
Mendeliome v0.9346 AIP Zornitza Stark Publications for gene: AIP were set to
Mendeliome v0.9345 AIP Zornitza Stark Mode of inheritance for gene: AIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9344 TTC26 Zornitza Stark Phenotypes for gene: TTC26 were changed from Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Mendeliome v0.9343 TTC26 Zornitza Stark edited their review of gene: TTC26: Changed phenotypes: Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534, Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Ciliopathies v1.12 TTC26 Zornitza Stark Phenotypes for gene: TTC26 were changed from Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Ciliopathies v1.11 TTC26 Zornitza Stark edited their review of gene: TTC26: Changed phenotypes: Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534, Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Cholestasis v0.205 TTC26 Zornitza Stark Phenotypes for gene: TTC26 were changed from Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Cholestasis v0.204 TTC26 Zornitza Stark edited their review of gene: TTC26: Changed phenotypes: Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534, Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Intellectual disability syndromic and non-syndromic v0.4193 AP1G1 Zornitza Stark Phenotypes for gene: AP1G1 were changed from Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy to Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467; Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy
Intellectual disability syndromic and non-syndromic v0.4192 AP1G1 Zornitza Stark edited their review of gene: AP1G1: Changed phenotypes: Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467, Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548, Neurodevelopmental disorder (NDD), Intellectual Disability, Epilepsy
Genetic Epilepsy v0.1271 AP1G1 Zornitza Stark Phenotypes for gene: AP1G1 were changed from Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy to Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467; Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy
Genetic Epilepsy v0.1270 AP1G1 Zornitza Stark reviewed gene: AP1G1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467, Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9343 AP1G1 Zornitza Stark Phenotypes for gene: AP1G1 were changed from Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy to Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467; Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy
Mendeliome v0.9342 AP1G1 Zornitza Stark edited their review of gene: AP1G1: Changed rating: GREEN; Changed phenotypes: Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467, Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9342 CERKL Zornitza Stark Publications for gene: CERKL were set to 33322828; 32865075; 32411380
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.103 CERKL Zornitza Stark Marked gene: CERKL as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.103 CERKL Zornitza Stark Gene: cerkl has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.103 CERKL Zornitza Stark Phenotypes for gene: CERKL were changed from Retinitis pigmentosa 26, 608380 to Retinitis pigmentosa 26, MIM# 608380
Mendeliome v0.9341 CERKL Zornitza Stark edited their review of gene: CERKL: Changed publications: 33322828, 32865075, 32411380, 14681825, 24043777, 28838317, 27208204, 28130426
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.102 CERKL Zornitza Stark Publications for gene: CERKL were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.101 CERKL Zornitza Stark reviewed gene: CERKL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33322828, 32865075, 32411380; Phenotypes: Retinitis pigmentosa 26, MIM# 608380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9341 CERKL Zornitza Stark Marked gene: CERKL as ready
Mendeliome v0.9341 CERKL Zornitza Stark Gene: cerkl has been classified as Green List (High Evidence).
Mendeliome v0.9341 CERKL Zornitza Stark Phenotypes for gene: CERKL were changed from Retinitis pigmentosa 26, MIM# 608380 to Retinitis pigmentosa 26, MIM# 608380
Mendeliome v0.9341 CERKL Zornitza Stark Phenotypes for gene: CERKL were changed from to Retinitis pigmentosa 26, MIM# 608380
Mendeliome v0.9340 CERKL Zornitza Stark Publications for gene: CERKL were set to
Mendeliome v0.9339 CERKL Zornitza Stark Mode of inheritance for gene: CERKL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9338 CERKL Zornitza Stark reviewed gene: CERKL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33322828, 32865075, 32411380; Phenotypes: Retinitis pigmentosa 26, MIM# 608380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9338 AIP Paul De Fazio changed review comment from: Germline variants in AIP cause predisposition to pituitary adenomas which may result in acromegaly.

A 2015 cohort study of 143 patients with pituitary gigantism who consented to genetic testing found 29% had variants in AIP. Age at first symptoms was 9-13 years, age at diagnosis 14-20 years.; to: Germline variants in AIP cause predisposition to pituitary adenomas which may result in acromegaly.

A 2015 cohort study of 143 patients with pituitary gigantism who consented to genetic testing found 29% had variants in AIP. Age at first symptoms was 9-13 years, age at diagnosis 14-20 years.

Many patients have no family history, suggesting low penetrance.
Additional findings_Paediatric v0.257 AIP Paul De Fazio reviewed gene: AIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16728643, 17360484, 26187128; Phenotypes: Pituitary adenoma predisposition MIM#102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.9338 AIP Paul De Fazio reviewed gene: AIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16728643, 17360484, 26187128; Phenotypes: Pituitary adenoma predisposition MIM#102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Cerebral vascular malformations v0.27 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Cerebral vascular malformations v0.27 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.27 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Cerebral Malformation Disorders to Cerebral cavernous malformations 4, MIM#619538
Cerebral vascular malformations v0.26 PIK3CA Zornitza Stark Publications for gene: PIK3CA were set to
Cerebral vascular malformations v0.25 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.15 WDR45 Chirag Patel Classified gene: WDR45 as Green List (high evidence)
Cerebral Palsy v1.15 WDR45 Chirag Patel Gene: wdr45 has been classified as Green List (High Evidence).
Cerebral Palsy v1.15 WDR45 Chirag Patel Classified gene: WDR45 as Green List (high evidence)
Cerebral Palsy v1.15 WDR45 Chirag Patel Gene: wdr45 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.24 PIK3CA Zornitza Stark Classified gene: PIK3CA as Green List (high evidence)
Cerebral vascular malformations v0.24 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Cerebral Palsy v1.15 WDR45 Chirag Patel Classified gene: WDR45 as Green List (high evidence)
Cerebral Palsy v1.15 WDR45 Chirag Patel Gene: wdr45 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.23 PIK3CA Zornitza Stark Tag somatic tag was added to gene: PIK3CA.
Cerebral vascular malformations v0.23 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34496175; Phenotypes: Cerebral cavernous malformations 4, MIM#619538; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.14 WDR45 Chirag Patel gene: WDR45 was added
gene: WDR45 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WDR45 were set to PMID: 33528536, 34364746
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, OMIM # 300894
Review for gene: WDR45 was set to GREEN
Added comment: Established gene for neurodevelopmental/degenerative disorder with spasticity and dystonia. Moreno-De-Luca et al. (2021) reported 4 patients with CP with P/LP variants.
Zahrani et al. (2021) reported 2 patients with dystonic/hypotonic CP with variants.
Sources: Literature
Cerebral Palsy v1.13 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Cerebral Palsy v1.13 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.13 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to PMID: 33528536, 33098801
Cerebral Palsy v1.12 UBE3A Zornitza Stark Marked gene: UBE3A as ready
Cerebral Palsy v1.12 UBE3A Zornitza Stark Gene: ube3a has been classified as Green List (High Evidence).
Cerebral Palsy v1.12 TUBB4A Zornitza Stark Marked gene: TUBB4A as ready
Cerebral Palsy v1.12 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence).
Cerebral Palsy v1.12 TUBB4A Zornitza Stark Publications for gene: TUBB4A were set to PMID: 34531397, 33528536
Cerebral Palsy v1.11 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Cerebral Palsy v1.11 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1270 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Genetic Epilepsy v0.1270 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1270 CACNA1C Zornitza Stark Classified gene: CACNA1C as Green List (high evidence)
Genetic Epilepsy v0.1270 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1269 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1C were set to 34163037
Phenotypes for gene: CACNA1C were set to Neurodevelopmental abnormalities and epilepsy, no OMIM#
Review for gene: CACNA1C was set to GREEN
Added comment: Rodan et al. (2021) reported 25 individuals from 22 families with heterozygous truncating and missense variants in CACNA1C. The individuals presented with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy BUT absence of classic features of Timothy syndrome or long QT syndrome. Functional studies of a subgroup of missense variants demonstrated loss of function, neutral effect, and gain of function on channel function in vitro.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4192 CACNA1C Zornitza Stark Publications for gene: CACNA1C were set to
Intellectual disability syndromic and non-syndromic v0.4191 CACNA1C Zornitza Stark Mode of inheritance for gene: CACNA1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9338 SHANK1 Zornitza Stark Marked gene: SHANK1 as ready
Mendeliome v0.9338 SHANK1 Zornitza Stark Gene: shank1 has been classified as Green List (High Evidence).
Mendeliome v0.9338 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from to Neurodevelopmental disorder, no OMIM#
Mendeliome v0.9337 SHANK1 Zornitza Stark Publications for gene: SHANK1 were set to
Cerebral Palsy v1.11 ZEB2 Chirag Patel Classified gene: ZEB2 as Green List (high evidence)
Cerebral Palsy v1.11 ZEB2 Chirag Patel Gene: zeb2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.11 ZEB2 Chirag Patel Classified gene: ZEB2 as Green List (high evidence)
Cerebral Palsy v1.11 ZEB2 Chirag Patel Gene: zeb2 has been classified as Green List (High Evidence).
Mendeliome v0.9336 SHANK1 Zornitza Stark Mode of inheritance for gene: SHANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9335 SHANK1 Zornitza Stark reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34113010, 22503632, 25188300; Phenotypes: Neurodevelopmental disorder, no OMIM#; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.11 ZEB2 Chirag Patel Classified gene: ZEB2 as Green List (high evidence)
Cerebral Palsy v1.11 ZEB2 Chirag Patel Gene: zeb2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.11 ZEB2 Chirag Patel Classified gene: ZEB2 as Green List (high evidence)
Cerebral Palsy v1.11 ZEB2 Chirag Patel Gene: zeb2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.10 ZEB2 Chirag Patel Classified gene: ZEB2 as Green List (high evidence)
Cerebral Palsy v1.10 ZEB2 Chirag Patel Gene: zeb2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.10 ZEB2 Chirag Patel Classified gene: ZEB2 as Green List (high evidence)
Cerebral Palsy v1.10 ZEB2 Chirag Patel Gene: zeb2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.10 ZEB2 Chirag Patel Classified gene: ZEB2 as Green List (high evidence)
Cerebral Palsy v1.10 ZEB2 Chirag Patel Gene: zeb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4190 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from Autism to Neurodevelopmental disorder, no OMIM#
Intellectual disability syndromic and non-syndromic v0.4189 SHANK1 Zornitza Stark Publications for gene: SHANK1 were set to 22503632; 25188300
Intellectual disability syndromic and non-syndromic v0.4188 SHANK1 Zornitza Stark Mode of inheritance for gene: SHANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.9 ZEB2 Chirag Patel gene: ZEB2 was added
gene: ZEB2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZEB2 were set to PMID: 33528536, 33098801
Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome, OMIM # 235730
Review for gene: ZEB2 was set to GREEN
Added comment: Neurodevelopmental disorder with DD, ID, epilepsy, and dysmorphism.
Moreno-De-Luca et al. (2021) reported 3 patients with CP with P/LP variants.
Zech et al. (2020) reported 1 patient with dystonic CP with de novo variant.
Sources: Literature
Mendeliome v0.9335 GDF11 Zornitza Stark Classified gene: GDF11 as Green List (high evidence)
Mendeliome v0.9335 GDF11 Zornitza Stark Gene: gdf11 has been classified as Green List (High Evidence).
Mendeliome v0.9334 GDF11 Zornitza Stark edited their review of gene: GDF11: Added comment: Ravenscroft et al. (2021) report additional 6 probands who presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). They found de novo and inherited variants in GDF11. gdf11 mutant zebrafish showed craniofacial abnormalities and body segmentation defects that matched some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants are partial LOF variants.; Changed rating: GREEN; Changed publications: 31215115, 34113007
Clefting disorders v0.144 GDF11 Zornitza Stark Publications for gene: GDF11 were set to PubMed: 31215115
Cerebral Palsy v1.8 UBE3A Chirag Patel Classified gene: UBE3A as Green List (high evidence)
Cerebral Palsy v1.8 UBE3A Chirag Patel Gene: ube3a has been classified as Green List (High Evidence).
Cerebral Palsy v1.7 UBE3A Chirag Patel gene: UBE3A was added
gene: UBE3A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: UBE3A were set to PMID: 33528536
Phenotypes for gene: UBE3A were set to Angelman syndrome , OMIM #105830
Review for gene: UBE3A was set to GREEN
Added comment: Neurodevelopmental disorder with DD, ID, epilepsy, and ataxia. Moreno-De-Luca et al. (2021) reported 3 patients with CP with P/LP variants.
Sources: Literature
Genetic Epilepsy v0.1268 PLXNA1 Zornitza Stark Marked gene: PLXNA1 as ready
Genetic Epilepsy v0.1268 PLXNA1 Zornitza Stark Gene: plxna1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1268 PLXNA1 Zornitza Stark Classified gene: PLXNA1 as Green List (high evidence)
Genetic Epilepsy v0.1268 PLXNA1 Zornitza Stark Gene: plxna1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1267 PLXNA1 Zornitza Stark gene: PLXNA1 was added
gene: PLXNA1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLXNA1 were set to 34054129
Phenotypes for gene: PLXNA1 were set to Neurodevelopmental disorder with cerebral and eye anomalies
Review for gene: PLXNA1 was set to GREEN
Added comment: Dworschak et al. (2021) via WES reported 10 patients from 7 families with biallelic (n=7) or de novo (n=3) PLXNA1 variants. Shared phenotypic features include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Seizures were predominantly reported in patients with monoallelic variants. Zebrafish studies showed an embryonic role of plxna1a in the development of the central nervous system and the eye. Biallelic variants in the extracellular Plexin-A1 domains lead to impaired dimerization or lack of receptor molecules, whereas monoallelic variants in the intracellular Plexin-A1 domains might impair downstream signaling through a dominant-negative effect.
Sources: Literature
Mendeliome v0.9334 PLXNA1 Zornitza Stark Marked gene: PLXNA1 as ready
Mendeliome v0.9334 PLXNA1 Zornitza Stark Gene: plxna1 has been classified as Green List (High Evidence).
Mendeliome v0.9334 PLXNA1 Zornitza Stark Classified gene: PLXNA1 as Green List (high evidence)
Mendeliome v0.9334 PLXNA1 Zornitza Stark Gene: plxna1 has been classified as Green List (High Evidence).
Mendeliome v0.9333 PLXNA1 Zornitza Stark gene: PLXNA1 was added
gene: PLXNA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLXNA1 were set to 34054129
Phenotypes for gene: PLXNA1 were set to Neurodevelopmental disorder with cerebral and eye anomalies
Review for gene: PLXNA1 was set to GREEN
Added comment: Dworschak et al. (2021) via WES reported 10 patients from 7 families with biallelic (n=7) or de novo (n=3) PLXNA1 variants. Shared phenotypic features include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Seizures were predominantly reported in patients with monoallelic variants. Zebrafish studies showed an embryonic role of plxna1a in the development of the central nervous system and the eye. Biallelic variants in the extracellular Plexin-A1 domains lead to impaired dimerization or lack of receptor molecules, whereas monoallelic variants in the intracellular Plexin-A1 domains might impair downstream signaling through a dominant-negative effect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4187 PLXNA1 Zornitza Stark Marked gene: PLXNA1 as ready
Intellectual disability syndromic and non-syndromic v0.4187 PLXNA1 Zornitza Stark Gene: plxna1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.6 TUBB2B Chirag Patel reviewed gene: TUBB2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.6 TUBB4A Chirag Patel Classified gene: TUBB4A as Green List (high evidence)
Cerebral Palsy v1.6 TUBB4A Chirag Patel Gene: tubb4a has been classified as Green List (High Evidence).
Cerebral Palsy v1.5 TUBB4A Chirag Patel Classified gene: TUBB4A as Green List (high evidence)
Cerebral Palsy v1.5 TUBB4A Chirag Patel Gene: tubb4a has been classified as Green List (High Evidence).
Cerebral Palsy v1.5 TUBB4A Chirag Patel Classified gene: TUBB4A as Green List (high evidence)
Cerebral Palsy v1.5 TUBB4A Chirag Patel Gene: tubb4a has been classified as Green List (High Evidence).
Cerebral Palsy v1.4 TUBB4A Chirag Patel gene: TUBB4A was added
gene: TUBB4A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4A were set to PMID: 34531397, 33528536
Phenotypes for gene: TUBB4A were set to Dystonia 4, torsion, autosomal dominant, OMIM #128101; Leukodystrophy, hypomyelinating, 6, OMIM # 612438
Review for gene: TUBB4A was set to GREEN
Added comment: Van Eyk et al. (2021) reported 1 patient with dystonic CP with de novo variant. Moreno-De-Luca et al. (2021) reported 6 patients with CP with P/LP variants.
Sources: Literature
Cerebral Palsy v1.3 TUBB2B Chirag Patel Deleted their review
Cerebral Palsy v1.3 TUBB2B Chirag Patel gene: TUBB2B was added
gene: TUBB2B was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB2B were set to PMID: 33528536
Phenotypes for gene: TUBB2B were set to Cortical dysplasia, complex, with other brain malformations 7, OMIM # 610031
Review for gene: TUBB2B was set to RED
Added comment: Moreno-De-Luca et al. (2021) reported 3 patients with cerebral palsy with de novo pathogenic/LP variants BUT primarily presents with cortical malformations
Sources: Literature
Cerebral Palsy v1.2 TCF4 Chirag Patel Classified gene: TCF4 as Green List (high evidence)
Cerebral Palsy v1.2 TCF4 Chirag Patel Gene: tcf4 has been classified as Green List (High Evidence).
Cerebral Palsy v1.1 TCF4 Chirag Patel Classified gene: TCF4 as Green List (high evidence)
Cerebral Palsy v1.1 TCF4 Chirag Patel Gene: tcf4 has been classified as Green List (High Evidence).
Cerebral Palsy v1.1 TCF4 Chirag Patel Classified gene: TCF4 as Green List (high evidence)
Cerebral Palsy v1.1 TCF4 Chirag Patel Gene: tcf4 has been classified as Green List (High Evidence).
Cerebral Palsy v1.0 TCF4 Chirag Patel reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33528536; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4187 CACNA1C Chirag Patel reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34163037; Phenotypes: Neurodevelopmental abnormalities and epilepsy, no OMIM#; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4187 SHANK1 Chirag Patel Classified gene: SHANK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4187 SHANK1 Chirag Patel Gene: shank1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4186 SHANK1 Chirag Patel Classified gene: SHANK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4186 SHANK1 Chirag Patel Gene: shank1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4185 SHANK1 Chirag Patel reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34113010; Phenotypes: Neurodevelopmental disorder, no OMIM#; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.143 GDF11 Chirag Patel Classified gene: GDF11 as Green List (high evidence)
Clefting disorders v0.143 GDF11 Chirag Patel Gene: gdf11 has been classified as Green List (High Evidence).
Clefting disorders v0.142 GDF11 Chirag Patel edited their review of gene: GDF11: Added comment: Ravenscroft et al. (2021) report 6 probands who presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). They found de novo and inherited variants in GDF11. gdf11 mutant zebrafish showed craniofacial abnormalities and body segmentation defects that matched some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants are partial LOF variants.; Changed rating: GREEN; Changed publications: PubMed: 31215115, 34113007; Changed phenotypes: Vertebral hypersegmentation and orofacial anomalies (VHO), OMIM #619122
Intellectual disability syndromic and non-syndromic v0.4185 PLXNA1 Chirag Patel Classified gene: PLXNA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4185 PLXNA1 Chirag Patel Gene: plxna1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4184 PLXNA1 Chirag Patel gene: PLXNA1 was added
gene: PLXNA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLXNA1 were set to PMID: 34054129
Phenotypes for gene: PLXNA1 were set to Neurodevelopmental disorder with cerebral and eye anomalies
Review for gene: PLXNA1 was set to GREEN
Added comment: Dworschak et al. (2021) via WES reported 10 patients from 7 families with biallelic (n=7) or de novo (n=3) PLXNA1 variants. Shared phenotypic features include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Seizures were predominantly reported in patients with monoallelic variants. Zebrafish studies showed an embryonic role of plxna1a in the development of the central nervous system and the eye. Biallelic variants in the extracellular Plexin-A1 domains lead to impaired dimerization or lack of receptor molecules, whereas monoallelic variants in the intracellular Plexin-A1 domains might impair downstream signaling through a dominant-negative effect.
Sources: Literature
Cerebral Palsy v1.0 Zornitza Stark promoted panel to version 1.0
Cerebral Palsy v0.190 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Cerebral Palsy v0.190 TCF4 Zornitza Stark Gene: tcf4 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.190 TCF4 Zornitza Stark Classified gene: TCF4 as Amber List (moderate evidence)
Cerebral Palsy v0.190 TCF4 Zornitza Stark Gene: tcf4 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.189 TCF4 Zornitza Stark gene: TCF4 was added
gene: TCF4 was added to Cerebral Palsy. Sources: Expert Review
Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TCF4 were set to Pitt-Hopkins syndrome, MIM# 610954
Review for gene: TCF4 was set to AMBER
Added comment: Well established gene-disease association. Severe ID, seizures, dysmorphic features, but can be ataxic. Not specifically identified in CP cohorts.
Sources: Expert Review
Cerebral Palsy v0.188 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Cerebral Palsy v0.188 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.188 STXBP1 Zornitza Stark Classified gene: STXBP1 as Green List (high evidence)
Cerebral Palsy v0.188 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.187 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to Cerebral Palsy. Sources: Expert Review
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STXBP1 were set to 29761117
Phenotypes for gene: STXBP1 were set to Developmental and epileptic encephalopathy 4, MIM# 612164
Review for gene: STXBP1 was set to GREEN
Added comment: ID and seizures, though spastic quadriplegia reported, and variants identified as part of CP cohorts.
Sources: Expert Review
Congenital nystagmus v0.4 CRX Zornitza Stark gene: CRX was added
gene: CRX was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CRX was set to
Congenital nystagmus v0.4 GUCY2D Zornitza Stark gene: GUCY2D was added
gene: GUCY2D was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GUCY2D was set to
Congenital nystagmus v0.4 AIPL1 Zornitza Stark gene: AIPL1 was added
gene: AIPL1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: AIPL1 was set to
Congenital nystagmus v0.4 SPATA7 Zornitza Stark gene: SPATA7 was added
gene: SPATA7 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SPATA7 was set to
Congenital nystagmus v0.4 RDH12 Zornitza Stark gene: RDH12 was added
gene: RDH12 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RDH12 was set to
Congenital nystagmus v0.4 RPGRIP1 Zornitza Stark gene: RPGRIP1 was added
gene: RPGRIP1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RPGRIP1 was set to
Congenital nystagmus v0.4 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CEP290 was set to
Congenital nystagmus v0.4 ROM1 Zornitza Stark gene: ROM1 was added
gene: ROM1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ROM1 was set to
Congenital nystagmus v0.4 GDF6 Zornitza Stark gene: GDF6 was added
gene: GDF6 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GDF6 was set to
Congenital nystagmus v0.4 IMPDH1 Zornitza Stark gene: IMPDH1 was added
gene: IMPDH1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: IMPDH1 was set to
Congenital nystagmus v0.4 USP45 Zornitza Stark gene: USP45 was added
gene: USP45 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: USP45 was set to
Congenital nystagmus v0.4 PRPH2 Zornitza Stark gene: PRPH2 was added
gene: PRPH2 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PRPH2 was set to
Congenital nystagmus v0.4 TULP1 Zornitza Stark Source Expert Review Green was added to TULP1.
Source Expert list was added to TULP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital nystagmus v0.4 LRAT Zornitza Stark gene: LRAT was added
gene: LRAT was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: LRAT was set to
Congenital nystagmus v0.4 KCNJ13 Zornitza Stark gene: KCNJ13 was added
gene: KCNJ13 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: KCNJ13 was set to
Congenital nystagmus v0.4 RD3 Zornitza Stark gene: RD3 was added
gene: RD3 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RD3 was set to
Congenital nystagmus v0.4 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CRB1 was set to
Congenital nystagmus v0.4 RPE65 Zornitza Stark Source Expert list was added to RPE65.
Congenital nystagmus v0.4 NMNAT1 Zornitza Stark gene: NMNAT1 was added
gene: NMNAT1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: NMNAT1 was set to
Congenital nystagmus v0.4 RGS9BP Zornitza Stark gene: RGS9BP was added
gene: RGS9BP was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RGS9BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS9BP were set to 19818506; 14702087
Phenotypes for gene: RGS9BP were set to Bradyopsia MIM#608415
Congenital nystagmus v0.4 RGS9 Zornitza Stark gene: RGS9 was added
gene: RGS9 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RGS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS9 were set to 10676965; 29107794; 14702087
Phenotypes for gene: RGS9 were set to Bradyopsia MIM#608415
Congenital nystagmus v0.4 PDE6H Zornitza Stark gene: PDE6H was added
gene: PDE6H was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6H were set to 22901948
Phenotypes for gene: PDE6H were set to Achromatopsia 6 MIM#610024
Congenital nystagmus v0.4 PDE6C Zornitza Stark gene: PDE6C was added
gene: PDE6C was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6C were set to 19615668; 30080950
Phenotypes for gene: PDE6C were set to Cone dystrophy 4, MIM# 613093; Achromatopsia-5
Congenital nystagmus v0.4 GNAT2 Zornitza Stark gene: GNAT2 was added
gene: GNAT2 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNAT2 were set to 32203983; 17251445
Phenotypes for gene: GNAT2 were set to Achromatopsia 4 MIM#613856
Congenital nystagmus v0.4 CNGB3 Zornitza Stark gene: CNGB3 was added
gene: CNGB3 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNGB3 were set to 17265047
Phenotypes for gene: CNGB3 were set to Achromatopsia 3 MIM#262300
Congenital nystagmus v0.4 CNGA3 Zornitza Stark gene: CNGA3 was added
gene: CNGA3 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNGA3 were set to 9662398; 17265047; 11536077
Phenotypes for gene: CNGA3 were set to Achromatopsia 2 MIM#216900
Congenital nystagmus v0.4 ATF6 Zornitza Stark gene: ATF6 was added
gene: ATF6 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATF6 were set to 26029869; 26063662
Phenotypes for gene: ATF6 were set to Achromatopsia 7 MIM#616517
Congenital nystagmus v0.4 ITM2B Zornitza Stark gene: ITM2B was added
gene: ITM2B was added to Congenital nystagmus. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ITM2B were set to ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079
Congenital nystagmus v0.4 TRPM1 Zornitza Stark gene: TRPM1 was added
gene: TRPM1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM1 were set to Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Congenital nystagmus v0.4 SLC24A1 Zornitza Stark gene: SLC24A1 was added
gene: SLC24A1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A1 were set to Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
Congenital nystagmus v0.4 SAG Zornitza Stark gene: SAG was added
gene: SAG was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAG were set to Oguchi disease-1, MIM# 258100
Congenital nystagmus v0.4 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Leber congenital amaurosis 2; Retinitis pigmentosa 20
Congenital nystagmus v0.4 RIMS2 Zornitza Stark gene: RIMS2 was added
gene: RIMS2 was added to Congenital nystagmus. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIMS2 were set to night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970; retinal dysfunction; nystagmus; autism
Congenital nystagmus v0.4 RHO Zornitza Stark gene: RHO was added
gene: RHO was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RHO were set to Night blindness, congenital stationary autosomal dominant 1; Retinitis punctata albescens; Retinitis pigmentosa
Congenital nystagmus v0.4 RDH5 Zornitza Stark gene: RDH5 was added
gene: RDH5 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RDH5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RDH5 were set to Congenital Stationary Night Blindness; Fundus albipunctatus; Fundus albipunctatus, 136880; Achromatopsia, Cone, and Cone-rod Dystrophy
Congenital nystagmus v0.4 PDE6B Zornitza Stark gene: PDE6B was added
gene: PDE6B was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Night blindness, congenital stationary, autosomal dominant 2, 163500; Retinitis pigmentosa
Congenital nystagmus v0.4 NYX Zornitza Stark gene: NYX was added
gene: NYX was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Congenital nystagmus v0.4 LRIT3 Zornitza Stark gene: LRIT3 was added
gene: LRIT3 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIT3 were set to Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
Congenital nystagmus v0.4 GRM6 Zornitza Stark gene: GRM6 was added
gene: GRM6 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM6 were set to Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
Congenital nystagmus v0.4 GRK1 Zornitza Stark gene: GRK1 was added
gene: GRK1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRK1 were set to Oguchi disease-2, 613411
Congenital nystagmus v0.4 GPR179 Zornitza Stark gene: GPR179 was added
gene: GPR179 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
Congenital nystagmus v0.4 GNB3 Zornitza Stark gene: GNB3 was added
gene: GNB3 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB3 were set to Night blindness, congenital stationary, type 1H, MIM# 617024
Congenital nystagmus v0.4 GNAT1 Zornitza Stark gene: GNAT1 was added
gene: GNAT1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GNAT1 were set to Night blindness, congenital stationary, autosomal dominant 3, 610444
Congenital nystagmus v0.4 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CHM were set to Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Congenital nystagmus v0.4 CACNA2D4 Zornitza Stark gene: CACNA2D4 was added
gene: CACNA2D4 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CACNA2D4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CACNA2D4 were set to Congenital Stationary Night Blindness; Retinal cone dystrophy 4, 610478
Congenital nystagmus v0.4 CACNA1F Zornitza Stark Source Royal Melbourne Hospital was added to CACNA1F.
Mode of inheritance for gene CACNA1F was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071; Cone-rod dystropy, X-linked, 3, 300476 for gene: CACNA1F
Congenital nystagmus v0.4 CABP4 Zornitza Stark gene: CABP4 was added
gene: CABP4 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP4 were set to Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
Congenital nystagmus v0.4 MITF Zornitza Stark Added phenotypes Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470 for gene: MITF
Congenital nystagmus v0.4 GNAI3 Zornitza Stark Added phenotypes Auriculocondylar syndrome 1 602483; Ocular Albinism for gene: GNAI3
Congenital nystagmus v0.4 DGUOK Zornitza Stark Added phenotypes Mitochondrial DNA depletion syndrome 3 for gene: DGUOK
Congenital nystagmus v0.4 TULP1 Zornitza Stark Added phenotypes Retinitis pigmentosa 14 600132 AR; Leber congenital amaurosis 15 613843 AR for gene: TULP1
Congenital nystagmus v0.4 MYO5A Zornitza Stark Added phenotypes Griscelli syndrome, type 1 214450 AR for gene: MYO5A
Congenital nystagmus v0.4 MLPH Zornitza Stark Added phenotypes Griscelli syndrome, type 3 609227 AR for gene: MLPH
Congenital nystagmus v0.4 MANBA Zornitza Stark Added phenotypes Mannosidosis, beta 248510 AR for gene: MANBA
Congenital nystagmus v0.4 LAMA1 Zornitza Stark Added phenotypes Poretti-Boltshauser syndrome, OMIM:615960 for gene: LAMA1
Congenital nystagmus v0.4 DTNBP1 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 7 614076 AR for gene: DTNBP1
Congenital nystagmus v0.4 DCT Zornitza Stark Added phenotypes Ocutaneous albinism for gene: DCT
Congenital nystagmus v0.4 BLOC1S6 Zornitza Stark Added phenotypes ?Hermansky-pudlak syndrome 9 614171 AR for gene: BLOC1S6
Congenital nystagmus v0.4 BLOC1S5 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome, MONDO:0019312 for gene: BLOC1S5
Congenital nystagmus v0.4 BLOC1S3 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560 for gene: BLOC1S3
Congenital nystagmus v0.4 AP3D1 Zornitza Stark Added phenotypes ?Hermansky-Pudlak syndrome 10 617050 AR for gene: AP3D1
Congenital nystagmus v0.4 AHR Zornitza Stark Added phenotypes Foveal hypoplasia without albinism; ?Retinitis pigmentosa 85, 618345; Infantile nystagmus for gene: AHR
Congenital nystagmus v0.4 TYRP1 Zornitza Stark Added phenotypes Oculocutaneous Albinism; Albinism, oculocutaneous, type III for gene: TYRP1
Congenital nystagmus v0.4 TYR Zornitza Stark Added phenotypes Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Oculocutaneous Albinism; Albinism, oculocutaneous, type IB for gene: TYR
Congenital nystagmus v0.4 SLC45A2 Zornitza Stark Added phenotypes Oculocutaneous Albinism; Oculocutaneous albinism type IV,606574; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV for gene: SLC45A2
Congenital nystagmus v0.4 SLC38A8 Zornitza Stark Added phenotypes foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218 for gene: SLC38A8
Congenital nystagmus v0.4 SLC24A5 Zornitza Stark Added phenotypes Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI for gene: SLC24A5
Congenital nystagmus v0.4 SETX Zornitza Stark Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR for gene: SETX
Congenital nystagmus v0.4 SACS Zornitza Stark Added phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR for gene: SACS
Congenital nystagmus v0.4 RAB27A Zornitza Stark Added phenotypes Griscelli syndrome, type 2 607624 AR for gene: RAB27A
Congenital nystagmus v0.4 PAX6 Zornitza Stark Added phenotypes Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD for gene: PAX6
Congenital nystagmus v0.4 OCA2 Zornitza Stark Added phenotypes Skin/hair/eye pigmentation 1, blond/brown hair; Albinism, oculocutaneous, type II; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous for gene: OCA2
Congenital nystagmus v0.4 LYST Zornitza Stark Added phenotypes optic neuropathy with progressive vision loss; Chediak-Higashi syndrome; oculo-cutaneous albinism for gene: LYST
Congenital nystagmus v0.4 LRMDA Zornitza Stark Added phenotypes Albinism, oculocutaneous, type VII for gene: LRMDA
Congenital nystagmus v0.4 HPS6 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 6 614075 AR for gene: HPS6
Congenital nystagmus v0.4 HPS5 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 5 for gene: HPS5
Congenital nystagmus v0.4 HPS4 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 4 for gene: HPS4
Congenital nystagmus v0.4 HPS3 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 3 for gene: HPS3
Congenital nystagmus v0.4 HPS1 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 1 for gene: HPS1
Congenital nystagmus v0.4 GPR143 Zornitza Stark Added phenotypes Ocular albinism, type I; Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500 for gene: GPR143
Congenital nystagmus v0.4 FRMD7 Zornitza Stark Added phenotypes Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700 for gene: FRMD7
Congenital nystagmus v0.4 CASK Zornitza Stark Added phenotypes Mental retardation, with or without nystagmus 300422; FG syndrome 4 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD for gene: CASK
Congenital nystagmus v0.4 CACNA1F Zornitza Stark Added phenotypes Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL; Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL for gene: CACNA1F
Congenital nystagmus v0.4 CACNA1A Zornitza Stark Added phenotypes Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated for gene: CACNA1A
Congenital nystagmus v0.4 AP3B1 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 2 608233 AR for gene: AP3B1
Congenital nystagmus v0.3 Zornitza Stark Panel name changed from Albinism or congenital nystagmus to Congenital nystagmus
Genetic Epilepsy v0.1266 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Genetic Epilepsy v0.1266 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1266 TUBGCP6 Zornitza Stark Classified gene: TUBGCP6 as Green List (high evidence)
Genetic Epilepsy v0.1266 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1265 TUBGCP6 Krithika Murali gene: TUBGCP6 was added
gene: TUBGCP6 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP6 were set to 22279524; 33453472
Phenotypes for gene: TUBGCP6 were set to Microcephaly and chorioretinopathy, autosomal recessive, 1 - 251270; Epilepsy
Review for gene: TUBGCP6 was set to GREEN
Added comment: Known association with congenital microcephaly, developmental delay and retinal disorders with epilepsy also reported in some individuals.
Sources: Expert list, Literature
Genetic Epilepsy v0.1265 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Genetic Epilepsy v0.1265 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1265 CLCN2 Zornitza Stark Tag disputed tag was added to gene: CLCN2.
Genetic Epilepsy v0.1265 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CLCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN2 were set to 23707145; 19191339; 20037607; 19710712
Phenotypes for gene: CLCN2 were set to {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
Review for gene: CLCN2 was set to RED
Added comment: Conflicting evidence regarding association with epilepsy syndromes, including one retracted paper.

In 3 of 46 unrelated families with IGE localized to 3q26, Haug et al. (2003) identified 3 mutations in the CLCN2 gene. In a re-evaluation of 2 of the families reported by Haug et al. (2003), Kleefuss-Lie et al. (2009) found discrepancies in the family structure, phenotype, and genetic analysis. On this basis, all but one of the original authors retracted the paper.

Stogmann et al. (2006) did not identify pathogenic mutations in the CLCN2 gene in 61 patients with IGE or 35 patients with temporal lobe epilepsy, suggesting that CLCN2 gene mutations are not a common cause of these disorders.

By sequencing of a large collection of human DNA followed by electrophysiologic analysis, Blanz et al. (2007) concluded that several CLCN2 sequence abnormalities previously found in patients with epilepsy most likely represented benign polymorphisms.

Saint-Martin et al. (2009) identified 2 different heterozygous variants in the CLCN2 gene in affected members of 2 unrelated families with juvenile myoclonic epilepsy (EJM8) and idiopathic generalized epilepsy (EIG11), respectively. In both families, the unaffected father also had the variant, suggesting either reduced penetrance or additional unidentified factors necessary for full phenotypic expression.

Niemeyer et al. (2010) disagreed with the conclusion by Kleefuss-Lie et al. (2009) that some of the work by Haug et al. (2003) had merit. Based on lack of functional consequences of the variants reported by Haug et al. (2003), Niemeyer et al. (2010) asserted that there is no evidence for a role of CLCN2 variants in idiopathic generalized epilepsy.
Sources: Expert Review
Genetic Epilepsy v0.1264 CHRM1 Zornitza Stark Marked gene: CHRM1 as ready
Genetic Epilepsy v0.1264 CHRM1 Zornitza Stark Gene: chrm1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1264 CHRM1 Zornitza Stark gene: CHRM1 was added
gene: CHRM1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHRM1 were set to 34212451; 31981491; 12483218
Phenotypes for gene: CHRM1 were set to Neurodevelopmental disorder; intellectual disability; autism; epilepsy
Review for gene: CHRM1 was set to RED
Added comment: PMID: 34212451 - 2 unrelated cases with de novo missense variants (p.Pro380Leu and p.Phe425Ser), one case with early-onset refractory epilepsy, severe disability, and progressive cerebral and cerebellar atrophy, and the second case with mild dysmorphism, global developmental delay, and moderate intellectual disability. In vitro biochemical analyses of p.Pro380Leu demonstrated a reduction in protein levels, impaired cellular trafficking, and defective activation of intracellular signaling pathways.
PMID: 31981491 - an autism spectrum disorder (no other information on phenotype, except ascertained to have severe neurodevelopmental delay) case with a de novo missense variant p.(Arg210Leu)
PMID: 12483218 - null mouse model assessing memory demonstrated selective cognitive dysfunction.
Sources: Expert Review
Genetic Epilepsy v0.1263 U2AF2 Krithika Murali gene: U2AF2 was added
gene: U2AF2 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: U2AF2 were set to 34112922
Phenotypes for gene: U2AF2 were set to Epilepsy; Developmental Delay; Intellectual Disability
Review for gene: U2AF2 was set to RED
Added comment: Novel gene. De novo variant identified in a child with epilepsy, global developmental delay and dysmorphism (Hiraide et al, J Hum Genetics 2021)
Sources: Expert list, Literature
Genetic Epilepsy v0.1263 UMPS Zornitza Stark Marked gene: UMPS as ready
Genetic Epilepsy v0.1263 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1263 UMPS Zornitza Stark Classified gene: UMPS as Green List (high evidence)
Genetic Epilepsy v0.1263 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.59 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from Intellectual developmental disorder 62, MIM#618793 to Intellectual developmental disorder 62, MIM#618793; Marfanoid features
Aortopathy_Connective Tissue Disorders v1.58 DLG4 Zornitza Stark edited their review of gene: DLG4: Changed phenotypes: Intellectual developmental disorder 62, MIM#618793, Marfanoid features
Aortopathy_Connective Tissue Disorders v1.58 DLG4 Zornitza Stark Marked gene: DLG4 as ready
Aortopathy_Connective Tissue Disorders v1.58 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.58 DLG4 Zornitza Stark Mode of inheritance for gene: DLG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.57 DLG4 Zornitza Stark Publications for gene: DLG4 were set to PMID: 33597769
Aortopathy_Connective Tissue Disorders v1.56 DLG4 Zornitza Stark Classified gene: DLG4 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.56 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.55 DLG4 Zornitza Stark changed review comment from: Marfanoid habits described in multiple affected individuals.; to: Marfanoid habitus described in multiple affected individuals.
Aortopathy_Connective Tissue Disorders v1.55 DLG4 Zornitza Stark reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29460436; Phenotypes: Intellectual developmental disorder 62, MIM#618793; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1262 UMPS Krithika Murali gene: UMPS was added
gene: UMPS was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UMPS were set to 25757096; 33489760
Phenotypes for gene: UMPS were set to Orotic aciduria - 258900; Epilepsy
Review for gene: UMPS was set to GREEN
Added comment: Gene associated with orotic aciduria. Seizures have been reported in some individuals.
Sources: Expert list, Literature
Congenital nystagmus v0.0 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MITF were set to Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470
Congenital nystagmus v0.0 GNAI3 Zornitza Stark gene: GNAI3 was added
gene: GNAI3 was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: GNAI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GNAI3 were set to 27607449
Phenotypes for gene: GNAI3 were set to Auriculocondylar syndrome 1 602483; Ocular Albinism
Congenital nystagmus v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 12210798; 12205643
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3
Congenital nystagmus v0.0 TULP1 Zornitza Stark gene: TULP1 was added
gene: TULP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14 600132 AR; Leber congenital amaurosis 15 613843 AR
Congenital nystagmus v0.0 MYO5A Zornitza Stark gene: MYO5A was added
gene: MYO5A was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to Griscelli syndrome, type 1 214450 AR
Congenital nystagmus v0.0 MLPH Zornitza Stark gene: MLPH was added
gene: MLPH was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLPH were set to Griscelli syndrome, type 3 609227 AR
Congenital nystagmus v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta 248510 AR
Congenital nystagmus v0.0 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to 29167897; 28283601; 32195884; 25105227; 328840387; 33251915
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, OMIM:615960
Congenital nystagmus v0.0 DTNBP1 Zornitza Stark gene: DTNBP1 was added
gene: DTNBP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7 614076 AR
Congenital nystagmus v0.0 DCT Zornitza Stark gene: DCT was added
gene: DCT was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCT were set to 33100333
Phenotypes for gene: DCT were set to Ocutaneous albinism
Congenital nystagmus v0.0 BLOC1S6 Zornitza Stark gene: BLOC1S6 was added
gene: BLOC1S6 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to ?Hermansky-pudlak syndrome 9 614171 AR
Congenital nystagmus v0.0 BLOC1S5 Zornitza Stark gene: BLOC1S5 was added
gene: BLOC1S5 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S5 were set to 32565547
Phenotypes for gene: BLOC1S5 were set to Hermansky-Pudlak syndrome, MONDO:0019312
Congenital nystagmus v0.0 BLOC1S3 Zornitza Stark gene: BLOC1S3 was added
gene: BLOC1S3 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S3 were set to 16385460; 32687635; 22709368
Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560
Congenital nystagmus v0.0 AP3D1 Zornitza Stark gene: AP3D1 was added
gene: AP3D1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3D1 were set to ?Hermansky-Pudlak syndrome 10 617050 AR
Congenital nystagmus v0.0 AHR Zornitza Stark gene: AHR was added
gene: AHR was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHR were set to 28851966; 31009037; 23301081
Phenotypes for gene: AHR were set to Foveal hypoplasia without albinism; ?Retinitis pigmentosa 85, 618345; Infantile nystagmus
Congenital nystagmus v0.0 TYRP1 Zornitza Stark gene: TYRP1 was added
gene: TYRP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to Oculocutaneous Albinism; Albinism, oculocutaneous, type III
Congenital nystagmus v0.0 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Oculocutaneous Albinism; Albinism, oculocutaneous, type IB
Congenital nystagmus v0.0 SLC45A2 Zornitza Stark gene: SLC45A2 was added
gene: SLC45A2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Oculocutaneous Albinism; Oculocutaneous albinism type IV,606574; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV
Congenital nystagmus v0.0 SLC38A8 Zornitza Stark gene: SLC38A8 was added
gene: SLC38A8 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC38A8 were set to 32744312; 24045842; 29345414; 24290379
Phenotypes for gene: SLC38A8 were set to foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218
Congenital nystagmus v0.0 SLC24A5 Zornitza Stark gene: SLC24A5 was added
gene: SLC24A5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC24A5 were set to 23364476 - case report of patient of Chinese origin; 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism; 26686029 case identified in a cohort South-Italian origin; 27129268 - functional data to support the phenotypic effects of variants reported
Phenotypes for gene: SLC24A5 were set to Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI
Congenital nystagmus v0.0 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR
Congenital nystagmus v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type 270550 AR
Congenital nystagmus v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2 607624 AR
Congenital nystagmus v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD
Congenital nystagmus v0.0 OCA2 Zornitza Stark gene: OCA2 was added
gene: OCA2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Skin/hair/eye pigmentation 1, blond/brown hair; Albinism, oculocutaneous, type II; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous
Congenital nystagmus v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.; 9215679; 10482950; 8896560
Phenotypes for gene: LYST were set to optic neuropathy with progressive vision loss; Chediak-Higashi syndrome; oculo-cutaneous albinism
Congenital nystagmus v0.0 LRMDA Zornitza Stark gene: LRMDA was added
gene: LRMDA was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRMDA were set to PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism; PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11; 23395477
Phenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII
Congenital nystagmus v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6 614075 AR
Congenital nystagmus v0.0 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS5 were set to 12548288; 18182080; 27593200; 26785811; 28296950
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5
Congenital nystagmus v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS4 were set to 11836498; 15108212
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4
Congenital nystagmus v0.0 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS3 were set to 11455388; 11590544
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3
Congenital nystagmus v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS1 were set to 9705234; 10971344; 9497254; 7573033
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1
Congenital nystagmus v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GPR143 were set to 21541274; 26061757; 26160353; 21423867
Phenotypes for gene: GPR143 were set to Ocular albinism, type I; Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500
Congenital nystagmus v0.0 FRMD7 Zornitza Stark gene: FRMD7 was added
gene: FRMD7 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FRMD7 were set to 17013395; 17397053; 18431453; 17846367; 21303855; 24688117
Phenotypes for gene: FRMD7 were set to Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700
Congenital nystagmus v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus 300422; FG syndrome 4 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD
Congenital nystagmus v0.0 CACNA1F Zornitza Stark gene: CACNA1F was added
gene: CACNA1F was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CACNA1F were set to Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL; Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL
Congenital nystagmus v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 19182766
Phenotypes for gene: CACNA1A were set to Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated
Congenital nystagmus v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 AR
Congenital nystagmus v0.0 Zornitza Stark Added panel Albinism or congenital nystagmus
Aortopathy_Connective Tissue Disorders v1.55 DLG4 Elena Savva gene: DLG4 was added
gene: DLG4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLG4 were set to PMID: 33597769
Phenotypes for gene: DLG4 were set to Intellectual developmental disorder 62, MIM#618793
Review for gene: DLG4 was set to GREEN
Added comment: PMID: 33597769 - joint laxity reported in 13/38 patients, most patient variants were de novo PTCs
Sources: Literature
Mendeliome v0.9332 HNRNPD Zornitza Stark Phenotypes for gene: HNRNPD were changed from Developmental disorders to Neurodevelopmental disorder
Mendeliome v0.9331 HNRNPD Zornitza Stark Publications for gene: HNRNPD were set to 33057194
Mendeliome v0.9330 HNRNPD Zornitza Stark Classified gene: HNRNPD as Green List (high evidence)
Mendeliome v0.9330 HNRNPD Zornitza Stark Gene: hnrnpd has been classified as Green List (High Evidence).
Mendeliome v0.9329 HNRNPD Zornitza Stark reviewed gene: HNRNPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 33874999; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4183 HNRNPD Zornitza Stark Publications for gene: HNRNPD were set to 33057194
Intellectual disability syndromic and non-syndromic v0.4182 HNRNPD Zornitza Stark Phenotypes for gene: HNRNPD were changed from Developmental disorders to Neurodevelopmental disorder
Intellectual disability syndromic and non-syndromic v0.4181 HNRNPD Zornitza Stark Classified gene: HNRNPD as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4181 HNRNPD Zornitza Stark Gene: hnrnpd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4180 HNRNPD Ee Ming Wong reviewed gene: HNRNPD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33874999; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9329 EHHADH Zornitza Stark Mode of inheritance for gene: EHHADH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9328 UNC13B Zornitza Stark Marked gene: UNC13B as ready
Mendeliome v0.9328 UNC13B Zornitza Stark Gene: unc13b has been classified as Red List (Low Evidence).
Mendeliome v0.9328 UNC13B Zornitza Stark gene: UNC13B was added
gene: UNC13B was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: UNC13B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UNC13B were set to 33876820
Phenotypes for gene: UNC13B were set to Epilepsy
Review for gene: UNC13B was set to RED
Added comment: No OMIM human disease association. Gene encodes a presynaptic protein Munc13-2 highly expressed in the brain (predominantly cerebral cortex).

Variant interpretation data in human epilepsy cohort somewhat conflicting and restricted to a single study. Conflicting data esp regarding MOI, and evidence for pathogenicity of several of the variants is limited.

Wang et al, Brain, 2021 - trio-based whole-exome sequencing identified UNC13B in 12 individuals affected by partial epilepsy and/or febrile seizures from 8 unrelated families. Identified:
x1 de novo nonsense variant, absent in gnomad, damaging in silicos
x1 de novo splice site, absent in gnomad, damaging in silicos
x1 splice site variant present in unaffected mother (low frequency in gnomad)
x2 compound het in one individual - more severe phenotype postulated (x1 variant present in contro cohortl, the other variant present in low frequency in gnomad)
x1 missense variant - in Han Chinese major depressive disorders study, not in gnomad
x1 missense variant - highly conserved residue, not in gnomad
x2 other missense variant - highly conserved residue, low frequency in gnomad
Latter 4 missense variants cosegregated with affected individuals in the families

In Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila

De novo UNC13B variants previously reported in bipolar disorder and autism spectrum disorder
Sources: Expert Review
Genetic Epilepsy v0.1262 UNC13B Zornitza Stark edited their review of gene: UNC13B: Changed rating: RED
Genetic Epilepsy v0.1262 UNC13B Zornitza Stark Mode of inheritance for gene: UNC13B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1261 UNC13B Zornitza Stark Marked gene: UNC13B as ready
Genetic Epilepsy v0.1261 UNC13B Zornitza Stark Added comment: Comment when marking as ready: Agree data is conflicting esp regarding MOI, and evidence for pathogenicity of several of the variants is limited.
Genetic Epilepsy v0.1261 UNC13B Zornitza Stark Gene: unc13b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1261 UNC13B Zornitza Stark Classified gene: UNC13B as Red List (low evidence)
Genetic Epilepsy v0.1261 UNC13B Zornitza Stark Gene: unc13b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1260 UNC13B Krithika Murali changed review comment from: No OMIM human disease association. Gene encodes a presynaptic protein Munc13-2 highly expressed in the brain (predominantly cerebral cortex).

Variant interpretation data in human epilepsy cohort somewhat conflicting and restricted to a single study. Wang et al, Brain, 2021 - trio-based whole-exome sequencing identified UNC13B in 12 individuals affected by partial epilepsy and/or febrile seizures from 8 unrelated families. Identified:
x1 de novo nonsense variant, absent in gnomad, damaging in silicos
x1 de novo splice site, absent in gnomad, damaging in silicos
x1 de novo splice site in unaffected mother (low frequency in gnomad)
x2 compound het in one individual - more severe phenotype postulated (x1 variant present in contro cohortl, the other variant present in low frequency in gnomad)
x1 missense variant - in Han Chinese major depressive disorders study, not in gnomad
x1 missense variant - highly conserved residue, not in gnomad
x2 other missense variant - highly conserved residue, low frequency in gnomad
Latter 4 missense variants cosegregated with affected individuals in the families

In Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila

De novo UNC13B variants previously reported in bipolar disorder and autism spectrum disorder
Sources: Expert list, Literature; to: No OMIM human disease association. Gene encodes a presynaptic protein Munc13-2 highly expressed in the brain (predominantly cerebral cortex).

Variant interpretation data in human epilepsy cohort somewhat conflicting and restricted to a single study. Wang et al, Brain, 2021 - trio-based whole-exome sequencing identified UNC13B in 12 individuals affected by partial epilepsy and/or febrile seizures from 8 unrelated families. Identified:
x1 de novo nonsense variant, absent in gnomad, damaging in silicos
x1 de novo splice site, absent in gnomad, damaging in silicos
x1 splice site variant present in unaffected mother (low frequency in gnomad)
x2 compound het in one individual - more severe phenotype postulated (x1 variant present in contro cohortl, the other variant present in low frequency in gnomad)
x1 missense variant - in Han Chinese major depressive disorders study, not in gnomad
x1 missense variant - highly conserved residue, not in gnomad
x2 other missense variant - highly conserved residue, low frequency in gnomad
Latter 4 missense variants cosegregated with affected individuals in the families

In Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila

De novo UNC13B variants previously reported in bipolar disorder and autism spectrum disorder
Sources: Expert list, Literature
Genetic Epilepsy v0.1260 UNC13B Krithika Murali gene: UNC13B was added
gene: UNC13B was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: UNC13B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UNC13B were set to 33876820
Phenotypes for gene: UNC13B were set to Epilepsy
Penetrance for gene: UNC13B were set to unknown
Review for gene: UNC13B was set to RED
Added comment: No OMIM human disease association. Gene encodes a presynaptic protein Munc13-2 highly expressed in the brain (predominantly cerebral cortex).

Variant interpretation data in human epilepsy cohort somewhat conflicting and restricted to a single study. Wang et al, Brain, 2021 - trio-based whole-exome sequencing identified UNC13B in 12 individuals affected by partial epilepsy and/or febrile seizures from 8 unrelated families. Identified:
x1 de novo nonsense variant, absent in gnomad, damaging in silicos
x1 de novo splice site, absent in gnomad, damaging in silicos
x1 de novo splice site in unaffected mother (low frequency in gnomad)
x2 compound het in one individual - more severe phenotype postulated (x1 variant present in contro cohortl, the other variant present in low frequency in gnomad)
x1 missense variant - in Han Chinese major depressive disorders study, not in gnomad
x1 missense variant - highly conserved residue, not in gnomad
x2 other missense variant - highly conserved residue, low frequency in gnomad
Latter 4 missense variants cosegregated with affected individuals in the families

In Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila

De novo UNC13B variants previously reported in bipolar disorder and autism spectrum disorder
Sources: Expert list, Literature
Mitochondrial disease v0.651 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Mitochondrial disease v0.651 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.651 VARS2 Zornitza Stark Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917
Mitochondrial disease v0.650 VARS2 Zornitza Stark Publications for gene: VARS2 were set to
Mitochondrial disease v0.649 VARS2 Zornitza Stark Mode of inheritance for gene: VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.648 VARS2 Zornitza Stark reviewed gene: VARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24827421, 25058219, 29137650, 29314548, 31064326, 31623496; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9327 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Mendeliome v0.9327 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Mendeliome v0.9327 VARS2 Zornitza Stark Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917
Mendeliome v0.9326 VARS2 Zornitza Stark Publications for gene: VARS2 were set to
Mendeliome v0.9325 VARS2 Zornitza Stark Mode of inheritance for gene: VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9324 VARS2 Zornitza Stark reviewed gene: VARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24827421, 25058219, 29137650, 29314548, 31064326, 31623496; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1260 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Genetic Epilepsy v0.1260 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1260 VARS2 Zornitza Stark Classified gene: VARS2 as Green List (high evidence)
Genetic Epilepsy v0.1260 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1259 VARS2 Krithika Murali gene: VARS2 was added
gene: VARS2 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS2 were set to 27502409; 29137650; 31064326; 31623496
Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917; Epilepsy
Review for gene: VARS2 was set to GREEN
Added comment: Established gene associated with mitochondrial disorder. Heterogeneous clinical features reported including seizures, epilepsy, encephalopathy, microcephaly, global developmental delay, hypotonia, ataxia, dystonic movements, limb spasticity, hypertrophic cardiomyopathy, hyperlactaemia and MRI-B abnormalities.
Sources: Expert list, Literature
Genetic Epilepsy v0.1259 ZDHHC15 Zornitza Stark Marked gene: ZDHHC15 as ready
Genetic Epilepsy v0.1259 ZDHHC15 Zornitza Stark Gene: zdhhc15 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1259 ZDHHC15 Zornitza Stark Classified gene: ZDHHC15 as Red List (low evidence)
Genetic Epilepsy v0.1259 ZDHHC15 Zornitza Stark Gene: zdhhc15 has been classified as Red List (Low Evidence).
Mendeliome v0.9324 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159; Childhood idiopathic epilepsy and sinus arrhythmia
Mendeliome v0.9323 CHD4 Zornitza Stark Publications for gene: CHD4 were set to 31388190
Mendeliome v0.9322 CHD4 Zornitza Stark reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 34109749; Phenotypes: Childhood idiopathic epilepsy and sinus arrhythmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1258 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM# 617159 to Sifrim-Hitz-Weiss syndrome, MIM# 617159; Childhood idiopathic epilepsy and sinus arrhythmia
Genetic Epilepsy v0.1257 CHD4 Zornitza Stark Publications for gene: CHD4 were set to 27479907; 27616479
Genetic Epilepsy v0.1256 CHD4 Zornitza Stark Classified gene: CHD4 as Green List (high evidence)
Genetic Epilepsy v0.1256 CHD4 Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1255 CHD4 Zornitza Stark edited their review of gene: CHD4: Added comment: New publication, PMID 34109749: 8 individuals from 4 families with childhood idiopathic epilepsy and sinus arrhythmia. This may be a distinct gene-disease association as the variants were located outside of the typical domains associated with SHW syndrome (central regions from SNF2-like region to DUF1087 domain).; Changed rating: GREEN; Changed publications: 27479907, 27616479, 34109749; Changed phenotypes: Sifrim-Hitz-Weiss syndrome, MIM# 617159, Childhood idiopathic epilepsy and sinus arrhythmia
Genetic Epilepsy v0.1255 CCM2 Zornitza Stark Marked gene: CCM2 as ready
Genetic Epilepsy v0.1255 CCM2 Zornitza Stark Gene: ccm2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1255 CCM2 Zornitza Stark gene: CCM2 was added
gene: CCM2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCM2 were set to 32702807
Phenotypes for gene: CCM2 were set to Cerebral cavernous malformations-2, MIM#603284
Review for gene: CCM2 was set to RED
Added comment: Rare reports of presentation with seizures following bleeding.
Sources: Expert Review
Genetic Epilepsy v0.1254 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Genetic Epilepsy v0.1254 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1254 CARS2 Zornitza Stark Classified gene: CARS2 as Green List (high evidence)
Genetic Epilepsy v0.1254 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1253 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS2 were set to 25361775; 25787132; 30139652
Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, MIM# 616672
Review for gene: CARS2 was set to GREEN
Added comment: Three families reported with supportive functional data, epilepsy is a feature.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4180 BPTF Zornitza Stark Publications for gene: BPTF were set to 28942966; 33522091
Intellectual disability syndromic and non-syndromic v0.4180 BPTF Zornitza Stark Publications for gene: BPTF were set to 28942966
Genetic Epilepsy v0.1252 BPTF Zornitza Stark Marked gene: BPTF as ready
Genetic Epilepsy v0.1252 BPTF Zornitza Stark Gene: bptf has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1252 BPTF Zornitza Stark Classified gene: BPTF as Green List (high evidence)
Genetic Epilepsy v0.1252 BPTF Zornitza Stark Gene: bptf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4179 BPTF Zornitza Stark commented on gene: BPTF: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.
Genetic Epilepsy v0.1251 BPTF Zornitza Stark gene: BPTF was added
gene: BPTF was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BPTF were set to 33522091; 28942966
Phenotypes for gene: BPTF were set to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Review for gene: BPTF was set to GREEN
Added comment: Over 30 individuals reported, mostly de novo, some inherited variants. Reported features include seizures.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4179 BPTF Zornitza Stark edited their review of gene: BPTF: Changed publications: 28942966, 33522091
Mendeliome v0.9322 BCL11A Zornitza Stark Marked gene: BCL11A as ready
Mendeliome v0.9322 BCL11A Zornitza Stark Gene: bcl11a has been classified as Green List (High Evidence).
Mendeliome v0.9322 BCL11A Zornitza Stark Phenotypes for gene: BCL11A were changed from to Dias-Logan syndrome, MIM# 617101
Mendeliome v0.9321 BCL11A Zornitza Stark Publications for gene: BCL11A were set to
Mendeliome v0.9320 BCL11A Zornitza Stark Mode of inheritance for gene: BCL11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9319 BCL11A Zornitza Stark reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453576, 32903878; Phenotypes: Dias-Logan syndrome, MIM# 617101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4179 BCL11A Zornitza Stark Marked gene: BCL11A as ready
Intellectual disability syndromic and non-syndromic v0.4179 BCL11A Zornitza Stark Gene: bcl11a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4179 BCL11A Zornitza Stark Phenotypes for gene: BCL11A were changed from to Dias-Logan syndrome, MIM# 617101
Intellectual disability syndromic and non-syndromic v0.4178 BCL11A Zornitza Stark Publications for gene: BCL11A were set to
Genetic Epilepsy v0.1250 ZDHHC15 Krithika Murali gene: ZDHHC15 was added
gene: ZDHHC15 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: ZDHHC15 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZDHHC15 were set to 34345675; 15915161; 26290131; 32989326
Phenotypes for gene: ZDHHC15 were set to Mental retardation X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy
Review for gene: ZDHHC15 was set to RED
Added comment: 1 reported case of an 18 yo M with hypotonic cerebral palsy, focal-onset epilepsy, cortical visual impairment, intellectual disability, autism spectrum disorder, anxiety, and aggressive behaviors with hemizygous p.H158R variant shown to affect protein function in yeast complementation assay (Lewis et al Neurology Genetics 2021 PMID 34345675).

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Other background info:

Protein function of x4 ZDHHC15 variants assessed by Lewis et al. x2 variants identified through Jin et al Nat Genet 2020 (PMID 32989326) - maternally inherited p.H158R and p.L13P. x1 identified through Gene Matcher p.S330P and x1 through GeneDx maternally inherited p.K115R. Only p.H158R variant shown to affect protein function. In Drosophilia model LoF variants caused flight and co-ordinated movement defects supporting role in motor dysfunction.

Conflicting evidence for ID phenotype

1 case with intellectual disability and balanced translocation with breakpoints near the ZDHHC15 gene - functional studies showing absence of ZDHHC15 transcript variants. This patient showed skewed lyonization, with 100% inactivation of the normal X chromosome. PMID: 15915161

1 case with NO intellectual disability and balanced translocation with breakpoints in the ZDHHC15 gene - functional studies showing no gene expression in the patient's peripheral blood (PMID 26290131)
Sources: Expert list, Literature
Intellectual disability syndromic and non-syndromic v0.4177 BCL11A Zornitza Stark Mode of inheritance for gene: BCL11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4176 BCL11A Zornitza Stark reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453576, 32903878; Phenotypes: Dias-Logan syndrome, MIM# 617101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1250 BCL11A Zornitza Stark Marked gene: BCL11A as ready
Genetic Epilepsy v0.1250 BCL11A Zornitza Stark Gene: bcl11a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1250 BCL11A Zornitza Stark gene: BCL11A was added
gene: BCL11A was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11A were set to 27453576; 32903878
Phenotypes for gene: BCL11A were set to Dias-Logan syndrome, MIM# 617101
Review for gene: BCL11A was set to RED
Added comment: Epilepsy appears to be a rare feature of this syndrome.
Sources: Expert Review
Mendeliome v0.9319 CFAP221 Zornitza Stark Marked gene: CFAP221 as ready
Mendeliome v0.9319 CFAP221 Zornitza Stark Gene: cfap221 has been classified as Red List (Low Evidence).
Mendeliome v0.9319 CFAP221 Zornitza Stark gene: CFAP221 was added
gene: CFAP221 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP221 were set to 31636325
Phenotypes for gene: CFAP221 were set to Primary ciliary dyskinesia
Review for gene: CFAP221 was set to RED
Added comment: WES in 1 family with 3 siblings with clinical symptoms of PCD identified compound heterozygous loss-of-function variants in CFAP221, which segregated with disease. No functional studies. Nasal epithelial cells from 1 of the subjects demonstrated slightly reduced beat frequency, however, waveform analysis revealed that the CFAP221 defective cilia beat in an aberrant circular pattern. A candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal.
Sources: Literature
Ciliary Dyskinesia v1.13 CFAP221 Zornitza Stark Marked gene: CFAP221 as ready
Ciliary Dyskinesia v1.13 CFAP221 Zornitza Stark Gene: cfap221 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v1.13 CFAP221 Chirag Patel gene: CFAP221 was added
gene: CFAP221 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP221 were set to PMID: 31636325
Phenotypes for gene: CFAP221 were set to Primary ciliary dyskinesia
Review for gene: CFAP221 was set to RED
Added comment: WES in 1 family with 3 siblings with clinical symptoms of PCD identified compound heterozygous loss-of-function variants in CFAP221, which segregated with disease. No functional studies. Nasal epithelial cells from 1 of the subjects demonstrated slightly reduced beat frequency, however, waveform analysis revealed that the CFAP221 defective cilia beat in an aberrant circular pattern. A candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal.
Sources: Literature
Mendeliome v0.9318 DAB1 Zornitza Stark Mode of inheritance for gene: DAB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9317 DAB1 Zornitza Stark Phenotypes for gene: DAB1 were changed from to Spinocerebellar ataxia 37 MIM#615945; Ataxia and intellectual disability
Mendeliome v0.9316 DAB1 Zornitza Stark Publications for gene: DAB1 were set to
Mendeliome v0.9315 DAB1 Zornitza Stark Mode of pathogenicity for gene: DAB1 was changed from to None
Mendeliome v0.9314 DAB1 Zornitza Stark Mode of inheritance for gene: DAB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9313 DAB1 Zornitza Stark Classified gene: DAB1 as Red List (low evidence)
Mendeliome v0.9313 DAB1 Zornitza Stark Gene: dab1 has been classified as Red List (Low Evidence).
Mendeliome v0.9312 DAB1 Zornitza Stark reviewed gene: DAB1: Rating: RED; Mode of pathogenicity: None; Publications: 33928188; Phenotypes: Ataxia, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.293 DAB1 Zornitza Stark Marked gene: DAB1 as ready
Ataxia - paediatric v0.293 DAB1 Zornitza Stark Gene: dab1 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.293 DAB1 Zornitza Stark Classified gene: DAB1 as Red List (low evidence)
Ataxia - paediatric v0.293 DAB1 Zornitza Stark Gene: dab1 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.292 DAB1 Zornitza Stark reviewed gene: DAB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4176 SNIP1 Zornitza Stark Publications for gene: SNIP1 were set to 22279524
Intellectual disability syndromic and non-syndromic v0.4175 SNIP1 Zornitza Stark changed review comment from: Three Amish individuals with same homozygous variant, founder effect.; to: Four Amish individuals with same homozygous variant, founder effect.
Intellectual disability syndromic and non-syndromic v0.4175 SNIP1 Zornitza Stark edited their review of gene: SNIP1: Changed publications: 22279524, 34570759
Callosome v0.327 SNIP1 Zornitza Stark Publications for gene: SNIP1 were set to 22279524
Callosome v0.326 SNIP1 Zornitza Stark Tag founder tag was added to gene: SNIP1.
Callosome v0.326 SNIP1 Zornitza Stark changed review comment from: Three Amish individuals with same homozygous variant, founder effect.; to: Four Amish individuals with same homozygous variant, founder effect.
Callosome v0.326 SNIP1 Zornitza Stark edited their review of gene: SNIP1: Changed publications: 22279524, 34570759
Mendeliome v0.9312 SNIP1 Zornitza Stark Tag founder tag was added to gene: SNIP1.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.195 PANX1 Zornitza Stark changed review comment from: Two unrelated families, some functional data. However, clinical presentation is with infertility rather than POI/POF.; to: Two unrelated families with balletic variants, some functional data. Four with mono-allelic variants. However, clinical presentation is with infertility rather than POI/POF.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.195 PANX1 Zornitza Stark edited their review of gene: PANX1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9312 ERBB4 Zornitza Stark Marked gene: ERBB4 as ready
Mendeliome v0.9312 ERBB4 Zornitza Stark Gene: erbb4 has been classified as Green List (High Evidence).
Mendeliome v0.9312 ERBB4 Zornitza Stark Phenotypes for gene: ERBB4 were changed from to Amyotrophic lateral sclerosis 19, MIM# MIM#615515; Intellectual disability
Mendeliome v0.9311 ERBB4 Zornitza Stark Publications for gene: ERBB4 were set to
Mendeliome v0.9310 ERBB4 Zornitza Stark Mode of inheritance for gene: ERBB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9309 ERBB4 Zornitza Stark reviewed gene: ERBB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24119685, 28889094, 33603162; Phenotypes: Amyotrophic lateral sclerosis 19, MIM# MIM#615515, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4175 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Intellectual disability syndromic and non-syndromic v0.4175 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4175 ERBB4 Zornitza Stark Phenotypes for gene: ERBB4 were changed from to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.4174 ERBB4 Zornitza Stark Tag SV/CNV tag was added to gene: ERBB4.
Leukodystrophy - paediatric v0.236 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from PMID: 34403372 to Neurological disorder
Congenital Heart Defect v0.131 WLS Zornitza Stark Marked gene: WLS as ready
Congenital Heart Defect v0.131 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Congenital Heart Defect v0.131 WLS Zornitza Stark Classified gene: WLS as Green List (high evidence)
Congenital Heart Defect v0.131 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4174 LONP1 Zornitza Stark Phenotypes for gene: LONP1 were changed from CODAS syndrome, MIM#600373; Mitochondrial cytopathy to CODAS syndrome, MIM#600373; Mitochondrial cytopathy
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.89 WLS Zornitza Stark Marked gene: WLS as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.89 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4174 LONP1 Zornitza Stark Phenotypes for gene: LONP1 were changed from to CODAS syndrome, MIM#600373; Mitochondrial cytopathy
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.89 WLS Zornitza Stark Classified gene: WLS as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.89 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4173 LONP1 Zornitza Stark Publications for gene: LONP1 were set to
Anophthalmia_Microphthalmia_Coloboma v1.9 WLS Zornitza Stark Marked gene: WLS as ready
Anophthalmia_Microphthalmia_Coloboma v1.9 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.9 COX20 Zornitza Stark Marked gene: COX20 as ready